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Phenotypes
Hypercalciuria

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADCY101q24.2100%gene with protein product605205Calcium oxalate nephrolithiasis; Hypercalciuria; Osteopenia; Renal calcium wasting
ALPL1p36.12100%gene with protein product171760HOPSAbnormality of the dentition; Abnormality of the foot; Abnormality of the voice; Anemia; Anorexia; Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bowing of the legs; Carious teeth; Chondrocalcinosis; Constipation; Craniosynostosis; Death in infancy; Decreased calvarial ossification; Disproportionate short-limb short stature; Dolichocephaly; Elevated plasma pyrophosphate; Elevated urine pyrophosphate; Failure to thrive; Fever; Frontal bossing; Generalized hypotonia; Hypercalcemia; Hypercalciuria; Increased susceptibility to fractures; Intracranial hemorrhage; Irritability; Low alkaline phosphatase; Metaphyseal cupping; Micromelia; Myopathy; Nephrocalcinosis; Osteomalacia; Pathologic fracture; Phosphoethanolaminuria; Platyspondyly; Polyhydramnios; Premature loss of permanent teeth; Premature loss of primary teeth; Proptosis; Rachitic rosary; Recurrent fractures; Recurrent respiratory infections; Rickets; Seizures; Short lower limbs; Short ribs; Short stature; Skin dimple over apex of long bone angulation; Stillbirth; Unossified vertebral bodies; Vertebral clefting; Vomiting; Waddling gait; Widely patent fontanelles and sutures
AMMECR1Xq2399.99%gene with protein product300195Abnormality of the hair; Anteverted nares; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Elliptocytosis; Flat face; Glomerulopathy; Hearing impairment; Hypercalciuria; Intellectual disability; Intellectual disability, severe; Malar flattening; Micrognathia; Microscopic hematuria; Muscular hypotonia; Proteinuria; Renal insufficiency; Sensorineural hearing impairment; Talipes; Tapered finger; Thick vermilion border; Thin vermilion border; X-linked recessive inheritance
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
BAZ1B7q11.23100%gene with protein product605681WBSCR9, WBSCR10Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CDKN1C11p15.487.26%gene with protein product600856BWCR, BWSAccelerated skeletal maturation; Adrenal hypoplasia; Adrenocortical carcinoma; Adrenocortical cytomegaly; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Diastasis recti; Enlarged kidney; Epiphyseal dysplasia; Frontal bossing; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Hydronephrosis; Hypercalcemia; Hypercalciuria; Hypogonadism; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Metaphyseal dysplasia; Micromelia; Micropenis; Midface retrusion; Muscular hypotonia; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Postnatal growth retardation; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Short nose; Short stature; Vesicoureteral refluxDisorders of Sex Development
CFTR7q31.299.41%gene with protein product602421CF, ABCC7Abdominal pain; Abnormal enzyme/coenzyme activity; Absent vas deferens; Asthma; Autosomal recessive inheritance; Azoospermia; Biliary cirrhosis; Bronchiectasis; Chronic lung disease; Cor pulmonale; Decreased antibody level in blood; Decreased testicular size; Elevated C-reactive protein level; Elevated sweat chloride; Exocrine pancreatic insufficiency; Failure to thrive; Heterogeneous; Hypercalciuria; Immunodeficiency; Increased circulating gonadotropin level; Leukocytosis; Malabsorption; Male infertility; Meconium ileus; Non-obstructive azoospermia; Obstructive azoospermia; Pulmonary fibrosis; Rectal prolapse; Recurrent bronchopulmonary infections; Recurrent pancreatitis; Recurrent pneumonia; Recurrent respiratory infectionsMale Infertility
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
CLDN163q28100%gene with protein product603959Abdominal pain; Astigmatism; Autosomal recessive inheritance; Chronic kidney disease; Failure to thrive; Feeding difficulties in infancy; Hematuria; Hypercalciuria; Hypermagnesiuria; Hypermetropia; Hyperuricemia; Hypocitraturia; Hypomagnesemia; Juvenile onset; Myopia; Nephrocalcinosis; Nephrolithiasis; Nystagmus; Polydipsia; Polyuria; Recurrent urinary tract infections; Renal calcium wasting; Renal magnesium wasting; Renal tubular acidosis; Seizures; Strabismus; Tetany
CLDN191p34.2100%gene with protein product610036Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Autosomal recessive inheritance; Chorioretinal coloboma; Chronic kidney disease; Hematuria; Hypercalciuria; Hypermagnesiuria; Hypomagnesemia; Inguinal hernia; Macular coloboma; Myopia; Nephrocalcinosis; Nephrolithiasis; Nephropathy; Nystagmus; Recurrent urinary tract infections; Renal calcium wasting; Renal magnesium wasting; Tapetoretinal degeneration
CLIP27q11.23100%gene with protein product603432WBSCR4, CYLN2, WBSCR3Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
CYP24A120q13.299.7%gene with protein product126065CYP24Abnormality of the eye; Aortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Dehydration; Elfin facies; Failure to thrive; Generalized hypotonia; Hypercalciuria; Infantile hypercalcemia; Intellectual disability; Lethargy; Nephrocalcinosis; Polyuria; Pulmonic stenosis; Thick lower lip vermilion; Vomiting; Weight loss
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
GCM26p24.2100%gene with protein product603716GCMBAutosomal dominant inheritance; Cataract; Cerebral calcification; Chondrocalcinosis; Congenital hypoparathyroidism; Elevated circulating parathyroid hormone level; Generalized osteoporosis; Hypercalcemia; Hypercalciuria; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalcemic seizures; Hypoparathyroidism; Hypophosphatemia; Infantile hypercalcemia; Male infertility; Nephrocalcinosis; Osteopenia; Parathyroid adenoma; Parathyroid agenesis; Primary hyperparathyroidism; Seizures; Tetany
GCM26p24.2100%gene with protein product603716GCMBAutosomal dominant inheritance; Cataract; Cerebral calcification; Chondrocalcinosis; Congenital hypoparathyroidism; Elevated circulating parathyroid hormone level; Generalized osteoporosis; Hypercalcemia; Hypercalciuria; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalcemic seizures; Hypoparathyroidism; Hypophosphatemia; Infantile hypercalcemia; Male infertility; Nephrocalcinosis; Osteopenia; Parathyroid adenoma; Parathyroid agenesis; Primary hyperparathyroidism; Seizures; Tetany
GNA1119p13.399.98%gene with protein product139313HHC2Abdominal pain; Abnormal pattern of respiration; Abnormality of the fingernails; Alopecia; Anxiety; Arrhythmia; Choroidal melanoma; Ciliary body melanoma; Cortical myoclonus; Depressivity; Dry skin; EMG abnormality; Emotional lability; Fatigable weakness; Hypercalciuria; Hypermagnesiuria; Hyperphosphatemia; Hypocalcemia; Hypomagnesemia; Hypotension; Iris melanoma; Nephrocalcinosis; Paresthesia; Retinal detachment; Visual loss
GTF2I7q11.2358.64%gene with protein product601679WBSCR6Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
GTF2IRD17q11.23100%gene with protein product604318WBSCR11Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
KCNJ111q24.3100%gene with protein product600359Abnormally large globe; Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Frontal bossing; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hyposthenuria; Impaired platelet aggregation; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Macrocephaly; Macrotia; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polydipsia; Polyhydramnios; Polyuria; Premature birth; Prominent forehead; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Triangular face; Vomiting
LIMK17q11.2399.5%gene with protein product601329Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
MAGED2Xp11.21100%gene with protein product300470Fetal polyuria; Hypercalciuria; Hypochloremia; Hypokalemia; Hyponatremia; Increased circulating renin level; Medullary nephrocalcinosis; Polyhydramnios; Polyuria; Premature birth; X-linked recessive inheritance
MEN111q13100%gene with protein product613733Abnormality of hair density; Abnormality of the pancreatic islet cells; Abnormality of the thyroid gland; Adenoma sebaceum; Adrenocortical adenoma; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Angiofibromas; Autosomal dominant inheritance; Cafe-au-lait spot; Carcinoid tumor; Chondrocalcinosis; Confetti-like hypopigmented macules; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Diarrhea; Dyspareunia; Easy fatigability; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Fatigue; Female hypogonadism; Fluctuations in consciousness; Galactorrhea; Generalized muscle weakness; Generalized osteoporosis; Glucagonoma; Growth hormone excess; Gynecomastia; Headache; Hypercalcemia; Hypercalciuria; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Hyperphosphaturia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypophosphatemia; Hypotension; Impotence; Increased body weight; Increased circulating cortisol level; Infantile hypercalcemia; Insulinoma; Male hypogonadism; Nephrocalcinosis; Nonketotic hypoglycemia; Osteopenia; Osteoporosis; Pallor; Palpitations; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Polyphagia; Primary hyperparathyroidism; Progressive visual loss; Prolactinoma; Reactive hypoglycemia; Recurrent hypoglycemia; Secondary growth hormone deficiency; Seizures; Subcutaneous lipoma; Thyroid adenoma; Transient global amnesia; Tremor; Vomiting; Zollinger-Ellison syndromeEctodermal Dysplasia
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
RFC27q11.2399.93%gene with protein product600404Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
SLC12A115q21.1100%gene with protein product600839Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalcemia; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hypomagnesemia; Hyposthenuria; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polyhydramnios; Polyuria; Premature birth; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Vomiting
SLC34A15q35.399.99%gene with protein product182309NPT2, SLC17A2Autosomal dominant inheritance; Autosomal recessive inheritance; Elevated alkaline phosphatase of bone origin; Generalized aminoaciduria; Glycosuria; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Increased susceptibility to fractures; Medullary nephrocalcinosis; Muscle weakness; Nephrolithiasis; Osteopenia; Osteoporosis; Proximal tubulopathy; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature
SLC34A15q35.399.99%gene with protein product182309NPT2, SLC17A2Autosomal dominant inheritance; Autosomal recessive inheritance; Elevated alkaline phosphatase of bone origin; Generalized aminoaciduria; Glycosuria; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Increased susceptibility to fractures; Medullary nephrocalcinosis; Muscle weakness; Nephrolithiasis; Osteopenia; Osteoporosis; Proximal tubulopathy; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature
SLC34A39q34.399.97%gene with protein product609826Abnormality of abdomen morphology; Autosomal recessive inheritance; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Calcium nephrolithiasis; Deformed rib cage; Delayed epiphyseal ossification; Difficulty standing; Difficulty walking; Elevated alkaline phosphatase; Enlargement of the ankles; Enlargement of the costochondral junction; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Generalized hypotonia; Growth delay; Hypercalciuria; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Metaphyseal irregularity; Muscle weakness; Osteomalacia; Recurrent fractures; Renal phosphate wasting; Renal tubular dysfunction; Rickets; Short stature; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
SLC34A39q34.399.97%gene with protein product609826Abnormality of abdomen morphology; Autosomal recessive inheritance; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Calcium nephrolithiasis; Deformed rib cage; Delayed epiphyseal ossification; Difficulty standing; Difficulty walking; Elevated alkaline phosphatase; Enlargement of the ankles; Enlargement of the costochondral junction; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Generalized hypotonia; Growth delay; Hypercalciuria; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Metaphyseal irregularity; Muscle weakness; Osteomalacia; Recurrent fractures; Renal phosphate wasting; Renal tubular dysfunction; Rickets; Short stature; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
TBL27q11.23100%gene with protein product605842Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge


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