XomeDxSlice Tool

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Phenotypes
Absent speech

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADSL22q13.1100%gene with protein product608222Abnormal facial shape; Absent speech; Aggressive behavior; Anteverted nares; Autism; Autosomal recessive inheritance; Brachycephaly; Brisk reflexes; Cerebellar atrophy; Cerebral atrophy; Cerebral hypomyelination; CNS hypomyelination; Delayed speech and language development; Flat occiput; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Hyperactivity; Hypointensity of cerebral white matter on MRI; Inability to walk; Inappropriate laughter; Infantile onset; Intellectual disability; Long philtrum; Low-set ears; Microcephaly; Myoclonus; Nystagmus; Opisthotonus; Poor eye contact; Prominent metopic ridge; Seizures; Self-mutilation; Severe global developmental delay; Short nose; Skeletal muscle atrophy; Smooth philtrum; Strabismus; Thin upper lip vermilion; Wide mouth
ALG1113q14.3100%gene with protein product613666Absent speech; Autosomal recessive inheritance; Feeding difficulties; Global developmental delay; Infantile onset; Neonatal hypotonia; Opisthotonus; Seizures; Strabismus; Temperature instability; Type I transferrin isoform profile; Vomiting
AP3B215q25.2100%gene with protein product602166Absent speech; Autosomal recessive inheritance; Dyskinesia; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Poor eye contact; Rod-cone dystrophy
BCL11B14q32.299.98%gene with protein product606558ZNF856BAbsent speech; Autosomal dominant inheritance; Congenital onset; Generalized hypotonia; Global developmental delay; Hirsutism; Hypertelorism; Inflammatory abnormality of the skin; Intellectual disability; Micrognathia; Natal tooth; Pulmonary artery stenosis; Seizures; Severe combined immunodeficiency; Short palpebral fissure; Spastic tetraplegia; Umbilical hernia; Wormian bones
C2CD311q13.4100%gene with protein product615944Abnormal facial shape; Absent speech; Aplasia of the epiglottis; Autosomal recessive inheritance; Bifid tongue; Cleft palate; Congenital onset; Hamartoma of tongue; Hypoplasia of the corpus callosum; Increased number of teeth; Intellectual disability; Intellectual disability, severe; Lobulated tongue; Microcephaly; Micropenis; Molar tooth sign on MRI; Postaxial polydactyly; Telecanthus; Trigonocephaly; Upslanted palpebral fissure
CASKXp11.499.74%gene with protein product300172TNRC8Abnormally large globe; Absent speech; Broad forehead; Broad nasal tip; Cataract; Cerebellar hypoplasia; Cerebral cortical atrophy; Decreased body weight; Dilated fourth ventricle; Epicanthus; Gait disturbance; Generalized hypotonia; Global developmental delay; High palate; Hyperreflexia; Hypertelorism; Hypohidrosis; Intellectual disability; Intellectual disability, moderate; Long philtrum; Macrotia; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia of the trunk; Myopia; Nystagmus; Oval face; Postnatal growth retardation; Progressive microcephaly; Prominent nasal bridge; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short nose; Short stature; Spasticity; Strabismus; Visual impairment; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance
CHMP1A16q24.3100%gene with protein product164010PRSM1, PCOLN3Absent speech; Astigmatism; Autosomal recessive inheritance; Cerebellar hypoplasia; Chorea; Congenital onset; Esotropia; Generalized hypotonia; Global developmental delay; Hypermetropia; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Muscular hypotonia of the trunk; Myopia; Pes cavus; Poor speech; Postnatal microcephaly; Spasticity; Talipes equinovarus; Talipes valgus
CLIC2Xq2899.94%gene with protein product300138Absent speech; Cardiomegaly; Congestive heart failure; Contractures of the large joints; Global developmental delay; Intellectual disability, profound; Macroorchidism; Macrotia; Seizures; X-linked recessive inheritance
CLP111q12.1100%gene with protein product608757Absent speech; Autosomal recessive inheritance; Cerebral cortical atrophy; Congenital onset; Cortical gyral simplification; Cryptorchidism; Delayed myelination; Encephalopathy; Esotropia; Global developmental delay; Growth delay; High palate; Highly arched eyebrow; Hyperreflexia; Hypoplasia of the corpus callosum; Long eyelashes; Long palpebral fissure; Microcephaly; Nystagmus; Poor eye contact; Progressive microcephaly; Proptosis; Short nose; Spasticity; Thin upper lip vermilion; Underdeveloped nasal alae; Ventriculomegaly; Wide nasal bridge
COG416q22.1100%gene with protein product606976Abnormal protein O-linked glycosylation; Abnormality of the coagulation cascade; Absent speech; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Cirrhosis; Complex febrile seizures; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive in infancy; Feeding difficulties; Frontotemporal cerebral atrophy; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Growth delay; Hepatosplenomegaly; Hypercholesterolemia; Hyperreflexia; Intermittent diarrhea; Irritability; Limb hypertonia; Microcephaly; Muscular hypotonia of the trunk; Nystagmus; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Sloping forehead; Thick hair; Thrombocytopenia; Type II transferrin isoform profile
COG416q22.1100%gene with protein product606976Abnormal protein O-linked glycosylation; Abnormality of the coagulation cascade; Absent speech; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Cirrhosis; Complex febrile seizures; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive in infancy; Feeding difficulties; Frontotemporal cerebral atrophy; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Growth delay; Hepatosplenomegaly; Hypercholesterolemia; Hyperreflexia; Intermittent diarrhea; Irritability; Limb hypertonia; Microcephaly; Muscular hypotonia of the trunk; Nystagmus; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Sloping forehead; Thick hair; Thrombocytopenia; Type II transferrin isoform profile
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
DNM19q34.11100%gene with protein product602377DNMAbnormality of brainstem morphology; Absent speech; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Difficulty walking; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Inability to walk; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
EARS216p12.2100%gene with protein product612799Absent speech; Autosomal recessive inheritance; Bradykinesia; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Developmental regression; Dysplastic corpus callosum; Dystonia; Failure to thrive; Global developmental delay; Hypoplasia of the corpus callosum; Increased serum lactate; Infantile onset; Lactic acidosis; Leukoencephalopathy; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Seizures; Spastic tetraparesis; Visual impairment
ERLIN28p11.23100%gene with protein product611605C8orf2, SPFH2, SPG18Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Absent speech; Autosomal recessive inheritance; Babinski sign; Dysphagia; Gait disturbance; Gait imbalance; High palate; Hyperreflexia; Kyphosis; Loss of speech; Lower limb muscle weakness; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Scoliosis; Skeletal muscle atrophy; Slow progression; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Strabismus; Upper limb spasticity
EXOSC39p13.2100%gene with protein product606489Abnormality of the foot; Absent speech; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar cyst; Cerebral atrophy; Congenital onset; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Growth delay; Hip dislocation; Hyperreflexia; Muscular hypotonia of the trunk; Nystagmus; Oculomotor apraxia; Poor head control; Progressive microcephaly; Respiratory insufficiency; Skeletal muscle atrophy; Spasticity; Strabismus; Tongue atrophy; Tongue fasciculations; Variable expressivity
FGF123q28-q29100%gene with protein product601513FGF12BAbsent speech; Autosomal dominant inheritance; Cerebellar atrophy; Chronic constipation; Developmental regression; Epileptic encephalopathy; Feeding difficulties; Hypsarrhythmia; Inability to walk; Limb ataxia; Multifocal epileptiform discharges; Muscular hypotonia of the trunk; Poor speech; Status epilepticus; Variable expressivity
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
FRRS1L9q31.399.99%gene with protein product604574C9orf4Absent speech; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Choreoathetosis; Developmental regression; Epileptic encephalopathy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Myoclonus; Rigidity; Spasticity
GABRD1p36.3399.97%gene with protein product137163Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GNAO116q1399.93%gene with protein product139311Absent speech; Autosomal dominant inheritance; Cerebral atrophy; Delayed myelination; Epileptic encephalopathy; Generalized tonic seizures; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia
GNS12q14.399.7%gene with protein product607664Absent speech; Anteverted nares; Asymmetric septal hypertrophy; Autosomal recessive inheritance; Cellular metachromasia; Coarse facial features; Coarse hair; Depressed nasal bridge; Diarrhea; Drooling; Dysarthria; Dysostosis multiplex; Dysphagia; Flexion contracture; Frontal bossing; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Low-set ears; Ovoid thoracolumbar vertebrae; Progressive; Prominent forehead; Recurrent upper respiratory tract infections; Seizures; Short neck; Sleep disturbance; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thickened ribs; Wide mouth
GPT216q11.2100%gene with protein product138210Absent speech; Autosomal recessive inheritance; Drooling; Dysarthria; Encephalopathy; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Intellectual disability; Postnatal microcephaly; Progressive
GRIN2B12p13.1100%gene with protein product138252NMDAR2BAbnormality of skin morphology; Absent speech; Autosomal dominant inheritance; Behavioral abnormality; Developmental regression; EEG abnormality; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypsarrhythmia; Infantile spasms; Intellectual disability; Myoclonus; Seizures; Variable expressivity
IFIH12q24.299.95%gene with protein product606951Absent speech; Aortic arch calcification; Aortic valve calcification; Aortic valve stenosis; Arrhinencephaly; Atopic dermatitis; Autosomal dominant inheritance; Basal ganglia calcification; Broad forehead; Cardiomegaly; Carious teeth; Cerebral atrophy; Congestive heart failure; Coxa valga; Cutaneous photosensitivity; Decreased body weight; Dystonia; Expanded metacarpals with widened medullary cavities; Expanded metatarsals with widened medullary cavities; Expanded phalanges with widened medullary cavities; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Genu valgum; Glaucoma; Global developmental delay; Hemiplegia/hemiparesis; High anterior hairline; Hip dislocation; Hip subluxation; Hypoplasia of the maxilla; Hypoplasia of the tooth germ; Hypoplastic distal radial epiphyses; Incomplete penetrance; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Irritability; Mitral valve calcification; Muscle weakness; Muscular hypotonia of the trunk; Myopia; Onycholysis; Osteolytic defects of the phalanges of the hand; Osteoporosis; Pes cavus; Porencephalic cyst; Recurrent respiratory infections; Shallow acetabular fossae; Short stature; Smooth philtrum; Spastic tetraparesis; Spasticity; Subvalvular aortic stenosis; Talipes equinovarus; Tendon rupture; Unerupted tooth; Variable expressivity; Vasculitis; Waddling gaitAutoimmune Disorders
ISCA214q24.3100%gene with protein product615317HBLD1Abnormality of the periventricular white matter; Absent speech; Autosomal recessive inheritance; Leukodystrophy; Optic atrophy; Spasticity
KCNAB21p36.31100%gene with protein product601142Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
KIF5C2q23.1-q23.210.14%gene with protein product604593Absent speech; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Congenital onset; Cortical dysplasia; Fetal akinesia sequence; Global developmental delay; Hypoplasia of the corpus callosum; Intrauterine growth retardation; Microcephaly; Polymicrogyria; Seizures; Spastic tetraplegia; Variable expressivity
KLHL15Xp22.11100%gene with protein product300980Absent speech; Anteverted nares; Coarse facial features; Cryptorchidism; Global developmental delay; Intellectual disability; Micropenis; Polymicrogyria; Seizures; Ventriculomegaly; Wide mouth; X-linked recessive inheritance
MCOLN119p13.2100%gene with protein product605248Abnormality of abdomen morphology; Abnormality of ganglioside metabolism; Abnormality of mucopolysaccharide metabolism; Absent speech; Aplasia/Hypoplasia of the abdominal wall musculature; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral dysmyelination; Corneal opacity; Decreased light- and dark-adapted electroretinogram amplitude; Developmental stagnation; Dysplastic corpus callosum; Dystonia; EEG abnormality; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Muscular hypotonia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Photophobia; Progressive retinal degeneration; Retinopathy; Spastic tetraplegia; Strabismus
MCOLN119p13.2100%gene with protein product605248Abnormality of abdomen morphology; Abnormality of ganglioside metabolism; Abnormality of mucopolysaccharide metabolism; Absent speech; Aplasia/Hypoplasia of the abdominal wall musculature; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral dysmyelination; Corneal opacity; Decreased light- and dark-adapted electroretinogram amplitude; Developmental stagnation; Dysplastic corpus callosum; Dystonia; EEG abnormality; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Muscular hypotonia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Photophobia; Progressive retinal degeneration; Retinopathy; Spastic tetraplegia; Strabismus
MDH27q11.23100%gene with protein product154100Absent speech; Adrenal pheochromocytoma; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral hemorrhage; Chest pain; Constipation; Delayed myelination; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epileptic encephalopathy; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Feeding difficulties; Flushing; Global developmental delay; Glomerulosclerosis; Hypercalcemia; Hypertensive retinopathy; Hypoplasia of the corpus callosum; Inability to walk; Increased CSF lactate; Increased serum lactate; Nausea; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Poor head control; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Seizures; Sinus tachycardia; Skeletal muscle atrophy; Strabismus; Weight loss
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MFF2q36.3100%gene with protein product614785C2orf33Absent speech; Autosomal recessive inheritance; Cerebellar atrophy; Dysphagia; External ophthalmoplegia; Global developmental delay; Hyperreflexia; Hypsarrhythmia; Inability to walk; Infantile onset; Microcephaly; Optic atrophy; Peripheral neuropathy; Progressive; Seizures; Severe muscular hypotonia; Spasticity; Visual impairment
MFSD2A1p34.2100%gene with protein product614397MFSD2Abnormal cortical bone morphology; Absent speech; Agenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Generalized hypotonia; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Inability to walk; Intellectual disability, severe; Microcephaly; Pachygyria; Progressive; Progressive microcephaly; Seizures; Short stature; Sloping forehead; Spastic gait; Spastic tetraparesis; Talipes equinovarus; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
MID2Xq22.3100%gene with protein product300204Absent speech; Congenital onset; Global developmental delay; Hyperactivity; Intellectual disability; Poor speech; Strabismus; X-linked recessive inheritance
MPDU117p13.1100%gene with protein product604041Abnormality of vision; Absent speech; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Cognitive impairment; Congenital onset; Dry skin; Erythroderma; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Hyperkeratosis; Microcephaly; Muscular hypotonia; Nystagmus; Optic atrophy; Scaling skin; Seizures; Strabismus
NACC119p13.13100%gene with protein product610672BTBD14BAbsent speech; Autosomal dominant inheritance; Broad nasal tip; Cataract; Cerebral atrophy; Delayed myelination; Difficulty walking; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Intellectual disability; Irritability; Microcephaly; Poor head control; Scoliosis; Seizures; Spasticity; Stereotypy
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PIGN18q21.3398.85%gene with protein product606097Abnormal cardiac septum morphology; Absent speech; Agenesis of corpus callosum; Amblyopia; Anal atresia; Anal stenosis; Anteverted nares; Aplasia/Hypoplasia of the nipples; Atrial septal defect; Autosomal recessive inheritance; Broad forehead; Cerebral atrophy; Cerebral cortical atrophy; Choreoathetosis; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Congenital onset; Corneal opacity; Cryptorchidism; Cupped ear; Depressed nasal bridge; Epicanthus; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic fingernail; Hyporeflexia; Intellectual disability; Large fleshy ears; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Median cleft lip; Micrognathia; Multicystic kidney dysplasia; Narrow forehead; Non-midline cleft lip; Nystagmus; Open mouth; Overfolded helix; Patent ductus arteriosus; Polyhydramnios; Posteriorly rotated ears; Pulmonary hypoplasia; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short neck; Short nose; Spasticity; Tented upper lip vermilion; Tetralogy of Fallot; Thickened nuchal skin fold; Thin vermilion border; Tremor; Variable expressivity; Wide intermamillary distance; Wide mouth; Wide nasal bridge
PIGV1p36.11100%gene with protein product610274Abnormally large globe; Absent speech; Autosomal recessive inheritance; Generalized hypotonia; Highly arched eyebrow; Intellectual disability, severe; Long palpebral fissure; Malar flattening; Mandibular prognathia; Midface retrusion; Plagiocephaly; Posteriorly rotated ears; Short philtrum; Small nail; Tapered finger; Tented upper lip vermilion; Thin upper lip vermilion; Upslanted palpebral fissure
PNPT12p16.199.1%gene with protein product610316DFNB70Absent speech; Autosomal recessive inheritance; Choreoathetosis; Decreased nerve conduction velocity; Dyskinesia; Dystonia; Growth delay; Hearing impairment; Hyporeflexia; Severe muscular hypotonia; Skeletal muscle atrophy
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PRDM161p36.32100%gene with protein product605557Abnormal left ventricle morphology; Absent speech; Agenesis of corpus callosum; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congestive heart failure; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dilated cardiomyopathy; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Left ventricular noncompaction; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
PRPS1Xq22.399.96%gene with protein product311850DFN2Abnormal nerve conduction velocity; Absent speech; Areflexia; Areflexia of lower limbs; Ataxia; Childhood onset; Death in infancy; Decreased nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Drooling; Dysphagia; Gait disturbance; Generalized hypotonia; Global developmental delay; Gout; Growth delay; Hearing impairment; Hyperuricosuria; Immunodeficiency; Impaired pain sensation; Intellectual disability; Motor delay; Muscle mounding; Muscle weakness; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Onion bulb formation; Optic atrophy; Peripheral neuropathy; Pes cavus; Polyneuropathy; Progressive muscle weakness; Progressive visual loss; Recurrent infections; Recurrent upper respiratory tract infections; Renal insufficiency; Respiratory insufficiency; Segmental peripheral demyelination/remyelination; Seizures; Sensorineural hearing impairment; Sensory neuropathy; Skeletal muscle hypertrophy; Spinal cord posterior columns myelin loss; Tetraplegia; Uric acid nephrolithiasis; Variable expressivity; Visual impairment; Visual loss; X-linked recessive inheritance
PURA5q31.399.62%gene with protein product600473Absent speech; Autosomal dominant inheritance; CNS hypomyelination; Delayed myelination; Feeding difficulties; Global developmental delay; High palate; Intellectual disability; Muscular hypotonia; Myoclonus; Myopathic facies; Neonatal hypotonia; Nystagmus; Open mouth; Prominent forehead; Respiratory insufficiency; Seizures; Strabismus; Variable expressivity
PYCR21q42.1299.31%gene with protein product616406Abnormal cortical bone morphology; Absent speech; Agenesis of corpus callosum; Anteverted nares; Arachnodactyly; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebral cortical atrophy; CNS hypomyelination; Downslanted palpebral fissures; Failure to thrive; Global developmental delay; Hearing impairment; Heterotopia; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Inability to walk; Intellectual disability, severe; Leukodystrophy; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Muscular hypotonia of the trunk; Narrow forehead; Pachygyria; Progressive; Progressive microcephaly; Short nose; Short stature; Skeletal muscle atrophy; Sloping forehead; Smooth philtrum; Spasticity; Thick vermilion border; Thin upper lip vermilion; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
RARS26q1599.36%gene with protein product611524RARSLAbsent speech; Apnea; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Death in childhood; Deeply set eye; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperreflexia; Increased CSF lactate; Increased serum lactate; Lower limb spasticity; Narrow forehead; Narrow palate; Poor head control; Poor suck; Progressive; Progressive microcephaly; Prominent nasal bridge; Seizures; Upper limb spasticity; Variable expressivity
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; Wide nasal bridge
SETBP118q12.399.32%gene with protein product611060Abnormality of the nasopharynx; Absent speech; Anteverted nares; Aplasia/Hypoplasia of the pubic bone; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicornuate uterus; Brachycephaly; Broad ribs; Cerebral atrophy; Choanal stenosis; Coarse facial features; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Facial hemangioma; Failure to thrive; Hepatoblastoma; High forehead; High palate; Hydronephrosis; Hydroureter; Hyperconvex nail; Hypertelorism; Hypertrichosis; Hypoplasia of first ribs; Hypoplasia of the corpus callosum; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic nipples; Hypospadias; Hypsarrhythmia; Increased density of long bones; Intellectual disability; Long clavicles; Long face; Low-set ears; Macroglossia; Malar flattening; Metopic suture patent to nasal root; Micropenis; Midface retrusion; Motor delay; Narrow palate; Opisthotonus; Pointed chin; Postaxial hand polydactyly; Postnatal growth retardation; Prominent forehead; Ptosis; Sacrococcygeal teratoma; Sclerosis of skull base; Scrotal hypoplasia; Seizures; Shallow orbits; Short 1st metacarpal; Short distal phalanx of finger; Short neck; Short nose; Short sternum; Single transverse palmar crease; Sloping forehead; Synophrys; Talipes equinovarus; Thickened cortex of long bones; Thin upper lip vermilion; Tibial bowing; Ureteral stenosis; Ventriculomegaly; Wide distal femoral metaphysis; Widely patent fontanelles and sutures; Wormian bonesDisorders of Sex Development
SIK121q22.3100%gene with protein product605705SNF1LKAbnormality of skin morphology; Absent speech; Autosomal dominant inheritance; Developmental regression; Dysphagia; Epileptic encephalopathy; Eyelid myoclonias; Feeding difficulties; Focal tonic seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Hypsarrhythmia; Infantile spasms; Lethargy; Muscular hypotonia; Myoclonus; Poor suck; Recurrent respiratory infections; Respiratory distress
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SLC16A2Xq13.299.93%gene with protein product300095DXS128, AHDS, MRX22Abnormal conjugate eye movement; Abnormality of the neck; Absent speech; Aphasia; Ataxia; Athetosis; Babinski sign; Bilateral single transverse palmar creases; Biparietal narrowing; Bowel incontinence; Clonus; Congenital onset; Delayed CNS myelination; Drooling; Dysarthria; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Hallux valgus; Hyperreflexia; Hypoplasia of the musculature; Hypoplasia of the zygomatic bone; Hypothyroidism; Inability to walk; Increased thyroid-stimulating hormone level; Intellectual disability, progressive; Intellectual disability, severe; Irritability; Joint stiffness; Leukodystrophy; Macrotia; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Open mouth; Pectus excavatum; Pes planus; Prominent antihelix; Scoliosis; Severe global developmental delay; Skeletal muscle atrophy; Spastic paraplegia; Spastic tetraplegia; Stahl ear; Underfolded superior helices; Upslanted palpebral fissure; Urinary incontinence; X-linked dominant inheritance
SLC25A122q31.1100%gene with protein product603667Absent speech; Autosomal recessive inheritance; Cerebral hypomyelination; Epileptic encephalopathy; Global developmental delay; Hyperreflexia; Infantile onset; Poor eye contact; Seizures; Severe muscular hypotonia; Spasticity
SLC2A11p34.2100%gene with protein product138140GLUT1, GLUT, HTLVR, CSEAbnormal erythrocyte morphology; Absence seizures; Absent speech; Ataxia; Autosomal dominant inheritance; Cataract; Choreoathetosis; Confusion; Cyanosis; Delayed myelination; Delayed speech and language development; Dysarthria; Dystonia; EEG abnormality; Encephalopathy; Extrapyramidal dyskinesia; Generalized hyperreflexia; Global developmental delay; Headache; Hemiparesis; Hemolytic anemia; Hepatomegaly; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoglycorrhachia; Inability to walk; Infantile onset; Intellectual disability; Jaundice; Lethargy; Microcephaly; Muscle stiffness; Nystagmus; Paralysis; Paresthesia; Paroxysmal dyskinesia; Paroxysmal involuntary eye movements; Progressive microcephaly; Seizures; Short stature; Spasticity; Splenomegaly; Status epilepticus; Torsion dystoniaHemolytic Anemia
SLC33A13q25.3199.87%gene with protein product603690ACATN, SPG42Absent speech; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral atrophy; CNS hypomyelination; Congenital cataract; Decreased serum ceruloplasmin; Generalized hypotonia; Global developmental delay; Hearing impairment; Infantile onset; Lower limb hyperreflexia; Muscle weakness; Nystagmus; Pes cavus; Progressive; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SMARCA29p24.398.93%gene with protein product600014SNF2L2Abnormal hair pattern; Abnormality of the metacarpal bones; Absence seizures; Absent eyebrow; Absent speech; Aggressive behavior; Alopecia; Anteverted nares; Aphasia; Autosomal dominant inheritance; Blepharophimosis; Brachydactyly; Broad distal phalanx of finger; Broad philtrum; Clubbing of toes; Cryptorchidism; Curly eyelashes; Dysphasia; Echolalia; Eczema; Epileptic spasms; Everted lower lip vermilion; Excessive wrinkled skin; Failure to thrive; Global developmental delay; High, narrow palate; Highly arched eyebrow; Hypotrichosis; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint dislocation; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Mutism; Narrow nasal bridge; Poor speech; Prominent interphalangeal joints; Sandal gap; Scoliosis; Seizures; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Smooth philtrum; Sparse scalp hair; Specific learning disability; Status epilepticus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Triangular face; Wide intermamillary distance; Wide mouth; Wide nasal base
SMARCE117q21.299.74%gene with protein product603111Abnormality of cardiovascular system morphology; Abnormality of the dentition; Absent speech; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Arachnodactyly; Atrial septal defect; Autosomal dominant inheritance; Cerebellar hypoplasia; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Dystrophic toenail; Elbow dislocation; Feeding difficulties; Feeding difficulties in infancy; Generalized hirsutism; Global developmental delay; Hearing impairment; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Microcephaly; Muscular hypotonia; Nystagmus; Ptosis; Recurrent infections; Recurrent respiratory infections; Sandal gap; Scoliosis; Seizures; Short distal phalanx of finger; Short philtrum; Short stature; Slow-growing hair; Sparse scalp hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thin upper lip vermilion; Wide mouth; Wide nasal bridge; Wide nose
SPATA54q28.1100%gene with protein product613940Absent speech; Autosomal recessive inheritance; EEG abnormality; Feeding difficulties; Global developmental delay; Intellectual disability; Intellectual disability, severe; Limb hypertonia; Microcephaly; Muscular hypotonia of the trunk; Seizures; Sensorineural hearing impairment; Spasticity
ST3GAL52p11.2100%gene with protein product604402SIAT9Absent speech; Autosomal recessive inheritance; Choreoathetosis; Cortical visual impairment; Developmental regression; Developmental stagnation at onset of seizures; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hypermelanotic macule; Hyporeflexia of upper limbs; Irritability; Lower limb hyperreflexia; Myoclonus; Optic atrophy; Status epilepticus; Visual loss; Vomiting
STXBP19q34.11100%gene with protein product602926Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; Clinodactyly of the 5th finger; Cutaneous photosensitivity; Developmental regression; EEG abnormality; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Febrile seizures; Fine hair; Focal clonic seizures; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hearing impairment; Hypoplasia of the corpus callosum; Hypsarrhythmia; Impaired horizontal smooth pursuit; Infantile encephalopathy; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Microcephaly; Muscular hypotonia; Myoclonus; Neonatal onset; Nephrolithiasis; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Seizures; Severe global developmental delay; Spastic paraplegia; Spastic tetraplegia; Spasticity; Status epilepticus; Thick vermilion border; Tremor; Underdeveloped nasal alae; Variable expressivity; Ventriculomegaly; Wide mouth; Wide nose
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TELO216p13.3100%gene with protein product611140Abnormality of movement; Absent speech; Ataxia; Autosomal recessive inheritance; Congenital onset; Generalized hypotonia; Global developmental delay; Hearing impairment; Kyphoscoliosis; Microcephaly; Pectus excavatum; Spasticity
TMEM23116q23.199.51%gene with protein product614949Abnormal chorioretinal morphology; Absent speech; Aggressive behavior; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Global developmental delay; Hypertelorism; Intellectual disability; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Respiratory insufficiency; Retinal dystrophy; Sclerocornea; Self-mutilation; Sloping forehead; Tachypnea; TalipesHeterotaxy
UBA53q22.199.42%gene with protein product610552UBE1DC1Absent speech; Athetosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Delayed myelination; Dysarthria; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hypoplasia of the corpus callosum; Intellectual disability, severe; Irritability; Limb ataxia; Mask-like facies; Nystagmus; Poor eye contact; Postnatal microcephaly; Progressive; Seizures; Short stature; Spasticity
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
UQCRQ5q31.1100%gene with protein product612080Abnormality of extrapyramidal motor function; Absent speech; Ataxia; Athetosis; Autosomal recessive inheritance; Dystonia; Generalized hypotonia; Global developmental delay; Hyperreflexia; Increased serum lactate; Intellectual disability; Intellectual disability, severe
VPS1111q23.3100%gene with protein product608549Absent speech; Autosomal recessive inheritance; Central hypotonia; Cerebellar atrophy; Cerebral hypomyelination; Constipation; Cortical visual impairment; Delayed myelination; Developmental stagnation; Dysautonomia; Flexion contracture; Focal seizures with impairment of consciousness or awareness; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Muscular hypotonia of the trunk; Neurogenic bladder; Optic atrophy; Poor speech; Postnatal microcephaly; Reduced visual acuity; Severe global developmental delay; Spasticity; Temperature instability; Ventriculomegaly
WDR45Xp11.23100%gene with protein product300526WDRX1Abnormality of eye movement; Absent speech; Bradykinesia; Cerebellar atrophy; Cerebral atrophy; Dementia; Dysautonomia; Dystonia; Frontal release signs; Global developmental delay; Intellectual disability; Neurodegeneration; Parkinsonism; Poor speech; Rigidity; Spastic paraparesis; Tremor; X-linked dominant inheritance
ZDHHC15Xq13.3100%gene with protein product300576Abnormal facial shape; Absent speech; Cubitus valgus; Epicanthus; Global developmental delay; High palate; Intellectual disability, mild; Low posterior hairline; Macrodontia; Obesity; Seizures; Severe muscular hypotonia; Short 5th finger; Short foot; Short nose; Small hand; X-linked dominant inheritance; X-linked inheritance
ZEB22q22.3100%gene with protein product605802ZFHX1BAbdominal distention; Abnormality of metabolism/homeostasis; Abnormality of the abdominal wall; Abnormality of the rib cage; Absent speech; Atrial septal defect; Autosomal dominant inheritance; Broad eyebrow; Delayed eruption of teeth; Drooling; Generalized hypotonia; Happy demeanor; Hypoplasia of the corpus callosum; Intellectual disability, moderate; Motor delay; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pulmonary artery sling; Pulmonary artery stenosis; Pulmonic stenosis; Supernumerary nipple; Ventricular septal defect; Vomiting; Widely spaced teeth


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome