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Disorders for which GeneDx offers tests
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- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
- 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency
- 3-Methylglutaconic Aciduria Type I
- 46,XY Disorder of Sex Development
- 46,XY Gonadal Dysgenesis (SRY-related)
- 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)
- 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related)
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- Achalasia-Addisonianism-Alacrima
- Achromatopsia
- Acro-Renal-Ocular syndrome
- Acyl-CoA dehydrogenase 9 (ACAD9) deficiency
- AD nocturnal frontal lobe epilepsy (ADNFLE)
- Adenosine Deaminase Deficiency
- Adenosuccinate lyase def (MR and ASD)
- Adenylosuccinate Lyase Deficiency
- Adrenal Hypoplasia Congenita (AHC), X-linked
- Agammaglobulinemia, X-linked
- Aicardi-Goutieres Syndrome
- Alagille syndrome
- Alexander Disease
- Allgrove Syndrome
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Alport Syndrome
- Anauxetic Dysplasia
- Androgen Insensitivity Syndrome (AIS)
- Angelman syndrome (AS)
- Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
- Aniridia
- Anophthalmia
- Anterior Segment Dysgenesis
- Antley-Bixler Syndrome (ABS)
- APECED
- Ar Pitt-Hopkins-like MR, AR focal epilepsy (Amish)
- Arginase Deficiency
- Argininosuccinic Aciduria
- Aromatase Deficiency
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Aspartylglucosaminuria
- Ataxia with Oculomotor Apraxia 1(AOA1)
- Atypical Rett Syndrome
- Autism Spectrum Disorders
- Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A
- Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA)
- Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB)
- Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy
- Autoimmune Polyglandular Syndrome
- Autosomal recessive mental retardation with ovarian failure
- Autosomal recessive primary microcephaly
- Axenfeld-Rieger Syndrome
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- Bannayan-Riley-Ruvalcaba Syndrome
- Barth syndrome
- Basal cell nevus syndrome
- Benign Familial Infantile Seizures (BFIS)
- Benign Familial Neonatal Seizures (BFNS)
- Benign Familial Neonatal-Infantile Seizures (BFNIS)
- Best Vitelliform Macular Dystrophy
- Bestrophinopathy, Autosomal Recessive
- Beta-Ketothiolase Deficiency
- Biotinidase Deficiency
- Birt-Hogg-Dube Syndrome
- Bjornstad Syndrome
- Blackfan-Diamond Syndrome
- Bloom Syndrome
- Bothnia retinal dystrophy
- Branchiootic Syndrome
- Branchiootorenal syndrome
- Brugada Syndrome (BrS)
- Bruton type agammaglobulinemia
- Bullous Ichthyosiform Erythroderma
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- Campomelic Dysplasia (CD)
- Canavan Disease
- Cardio-Facio-Cutaneous Syndrome
- Carney Complex
- Carnitine Acylcarnitine Translocase Deficiency
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II (CPT2) Deficiency
- Carrier/Mutation-Specific Testing
- Cartilage-Hair Hypoplasia
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Cerebral Cavernous Malformation (CCM)
- Chanarin-Dorfman syndrome
- CHARGE Syndrome
- Cherubism
- Chondrodysplasia Punctata (CDPX1), X-Linked Recessive
- Choroideremia
- Chromosomal Abnormalities
- Chronic Granulomatous Disease (CGD)
- Chronic Infantile Neurologic Cutaneous and Articular Syndrome
- Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
- Chronic Progressive External Ophthalmoplegia (CPEO)
- Chuvash Type Polycythemia
- Citrin deficiency
- Classic Citrullinemia
- Clefting Syndrome
- Clouston Syndrome
- Cobalamin Metabolism and Related Disorders
- Coffin-Lowry Syndrome (CLS)
- Cohen Syndrome
- Collodion Baby
- Combined Malonic and Methylmalonic Aciduria (CMAMMA)
- Combined OXPHOS Deficiency
- Combined Saposin Deficiency
- Complex I Deficiency
- Complex II Deficiency (MT-C2D)
- Complex III Deficiency
- Complex IV(Cytochrome C Oxidase) Deficiency
- Complex V (ATP Synthesis) Deficiency
- Cone-Rod Dystrophy, Autosomal Dominant
- Cone-Rod Dystrophy, Autosomal Recessive
- Congenital Amegakaryocytic Thrombocytopenia (CAMT)
- Congenital Heart Disorder due to Micro Del/Dup Syndrome
- Congenital Insensitivity to Pain (CIP)
- Congenital Insensitivity to Pain with Anhidrosis
- Congenital Nystagmus, X-linked
- Congenital Stationary Night Blindness, Autosomal Dominant
- Congenital Stationary Night Blindness, Autosomal Recessive
- Congenital Stationary Night Blindness, X-Linked
- CopyDx/MLPA Testing
- COQ10 Deficiency
- Cornelia de Lange Syndrome
- Costello Syndrome
- Cowden Syndrome
- Craniofrontonasal syndrome
- CRASH Syndrome
- Creatine Deficiency Syndromes
- Cutis Laxa, Autosomal Dominant
- Cyclic Neutropenia
- Cytochrome P450 Oxidoreductase (POR) Deficiency
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- Danon Disease
- Darier Disease
- Deafness-Dystonia-Optic Neuronopathy (DDON) Syndrome
- Dent Disease
- Dent Disease 2
- Developmental Eye Disorders
- DFNB4 Nonsyndromic Hearing Loss and Deafness
- Diabetes and Hearing Loss
- Diamond-Blackfan Anemia
- DiGeorge syndrome
- Dihydrolipoamide Dehydrogenase Deficiency
- Dihydropteridine Reductase (DHPR) Deficiency
- Dilated Cardiomyopathy (DCM)
- Dopa-Responsive Dystonia
- Duane-Radial Ray syndrome
- Dyskeratosis Congenita
- Dystrophic Epidermolysis Bullosa (DEB)
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- Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
- Ectodermal Dysplasia
- Ectrodactyly
- Ehlers-Danlos Syndrome
- Enhanced S-Cone Syndrome
- Epidermolysis Bullosa (EB)
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa, Junctional Type
- Epidermolysis Bullosa, Junctional with Muscular Dystrophy
- Epidermolysis Bullosa, Junctional with Pyloric Atresia
- Epidermolytic Ichthyosis
- Epidermolytic Palmoplantar Keratoderma (EPPK)
- Epilepsy and Mental Retardation Limited to Females
- Epilepsy with Variable Learning and Behavioral Disorders
- Erythrokeratodermia Variabilis (EKV)
- Ethylmalonic Encephalopathy
- ExonArray Testing
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- Fabry Disease
- Familial Amyloid Polyneuropathy
- Familial Cold Autoinflammatory Syndrome
- Familial Cold Urticaria syndrome
- Familial Cutaneous Malignant Melanoma
- Familial Exudative Vitreoretinopathy
- Familial Hemiplegic Migraine (sometimes a/w seizures)
- Familial Hibernian Fever
- Familial Hypocalciuric Hypercalcemia (FHH)
- Familial Isolated Hyperparathyroidism (FIHP)
- Familial Isolated Hypoparathyroidism (FIH)
- Familial Mediterranean Fever
- Familial Medullary Thyroid Cancer
- Familial Multiple Mole and Melanoma Syndrome
- Fatty Acid Oxidation Disorders
- Feingold Syndrome
- Ferguson-Smith Disease
- Focal Dermal Hypoplasia
- Foveomacular Vitelliform Dystrophy, Adult-onset
- Fragile X Syndrome
- Fragile X type E
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
- Free Sialic Acid Storage Disorders
- Fructose-1,6-Bisphosphatase Deficiency
- Fucosidosis
- Fumarate Hydratase Deficiency
- Fundus Albipunctatus
- Fundus Flavimaculatus
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- Galactokinase deficiency
- Galactosemia
- Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Glaucoma, Juvenile Open Angle
- Glaucoma, Primary Congenital
- Glaucoma, Primary Open Angle
- Glucose Transporter Type I Deficiency Syndrome
- Glutaric Aciduria Type I
- Glutaric Aciduria Type II
- Glycerol Kinase Deficiency
- Glycogen Storage Disease 1a
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type V (GSD V)
- Glycogen Storage Disease, Type 0
- GM1-Gangliosidosis
- Goldmann-Favre Syndrome
- Goltz Syndrome
- Gorlin Syndrome
- Gracile Syndrome
- Greig Cephalopolysyndactyly Syndrome
- GTP Cyclohydrolase I Deficiency
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- Hailey-Hailey disease
- Harlequin Ichthyosis
- Hawkinsinuria
- Hay-Wells Syndrome
- Hereditary Angioedema (HAE) Type I-II
- Hereditary Angioedema (HAE) Type III
- Hereditary Inclusion Body Myopathy (HIBM)
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- Hereditary Multiple Exostoses (HME)
- Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
- Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN 4)
- Herlitz Junctional Epidermolysis Bullosa
- Hermansky-Pudlak Syndrome
- Heterotaxy
- Hidrotic ectodermal dysplasia
- Hirschsprung Disease
- HMG-CoA Lyase Deficiency
- Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency
- Holoprosencephaly
- Holt-Oram syndrome
- Homocystinuria due to Cystathionine Beta-Synthase Deficiency
- HOXD13-Associated Limb Abnormalities
- Hoyeraal-Hreidarsson Syndrome (HHS)
- Hydrocephalus, X-linked
- Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency
- Hyper-IgD Syndrome
- Hyper-IgE Syndrome (HIES)
- Hyperammonemia Related Disorders
- Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus
- Hyperparathyroidism-Jaw Tumor Syndrome
- Hypertrophic Cardiomyopathy (HCM)
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (HUPRA) Syndrome
- Hypo-/Anhidrotic Ectodermal Dysplasia
- Hypocalcemia, Autosomal Dominant (ADH)
- Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
- Hypophosphatemic Rickets, X-linked
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- Ichthyosis Follicularis with Atrichia and Photophobia (IFAP)
- Ichthyosis Vulgaris
- Ichthyosis, Congenital Recessive
- Immunodeficiency Syndrome with Hyper-IgM
- Incontinentia Pigmenti (IP)
- Infantile Parkinsonism, Autosomal Recessive
- Infantile Spasm Syndrome-2, X-linked
- Inherited Erythromelalgia (IEM)
- Invasive Pneumococcal Disease
- IRAK4 Deficiency
- Iris Hypoplasia
- Isobutyryl-CoA Dehydrogenase Deficiency
- Isovaleric Acidemia
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- Jensen Syndrome
- JME Generalized idiopathic epilepsy, Episodic ataxia
- Jobs Syndrome
- Juvenile mvoclonic epilepsy
- Juvenile Myoclonic Epilepsy
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT)
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- Kabuki syndrome (KS)
- Kallmann Syndrome
- KBG Syndrome
- Kearns-Sayre Syndrome (KSS)
- Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
- Keratosis Follicularis Spinulosa Decalvans (KFSD)
- Krabbe Disease
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- Lactic acidosis
- Lafora Disease
- Lamellar Ichthyosis Type 1
- Lamellar Ichthyosis Type 2
- Leber Congenital Amaurosis, Autosomal Dominant
- Leber Congenital Amaurosis, Autosomal Recessive
- Lebers Hereditary Optic Neuropathy (LHON)
- Left Ventricular Noncompaction (LVNC)
- Leigh Syndrome
- LEOPARD Syndrome
- Leukocyte Adhesion Deficiency Type 1
- Li-Fraumeni Syndrome (LFS)
- LIG4 Syndrome
- Limb-Mammary Syndrome
- Loeys-Dietz syndrome (LDS)
- Long QT Syndrome (LQTS)
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)
- Lysosomal Acid Lipase Deficiency
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- Macular Dystrophy, Autosomal Dominant
- Macular Dystrophy, Autosomal Recessive
- Macular Dystrophy, Stargardt-Like
- Majeed Syndrome
- Malonyl-CoA Decarboxylase Deficiency
- Maple Syrup Urine Disease (MSUD)
- Maple Syrup Urine Disease, Type III
- Marfan Syndrome/LDS/Related Disorders
- Maroteaux-Lamy Syndrome
- MASA Syndrome
- Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
- Maternally Inherited Diabetes and Deafness (MIDD)
- Maternally Inherited Diabetes Mellitus (MIDM)
- Maturity-Onset Diabetes of the Young (MODY)
- McArdle Disease
- Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
- Menkes disease
- Metachondromatosis
- Metachromatic Leukodystrophy
- Metaphyseal Dysplasia without Hypotrichosis
- Methionine Adenosyltransferase I/III Deficiency
- Methylglutaconic Aciduria
- Methylmalonic Acidemia
- Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type
- Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
- Microphthalmia
- Microphthalmia, Lenz Syndrome
- Mitis Junctional Epidermolysis Bullosa
- Mitochondrial DNA depletion syndrome
- Mitochondrial DNA Depletion/Multiple Deletion
- Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
- Mitochondrial Encephalopathy
- Mitochondrial Myopathy (MM)
- Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
- Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
- Mitochondrial Phosphate Carrier Deficiency
- Mitochondrial Super-Complex Deficiency
- Mitochondrial Trifunctional Protein (MTP) Deficiency
- Mohr-Tranebjaerg Syndrome
- Morquio B Disease
- Morquio Syndrome A
- Mowat-Wilson Syndrome
- MR-hyperekplexia
- Muckle-Wells Syndrome
- Mucolipidosis I
- Mucolipidosis IV
- Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID
- Mucopolysaccharidosis Type IVA
- Mucopolysaccharidosis Type IVB
- Mucopolysaccharidosis VI (MPSVI)
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
- Multiple Endocrine Neoplasia 2A
- Multiple Endocrine Neoplasia 2B
- Multiple Endocrine Neoplasia Type 1
- Multiple Epiphyseal Dysplasia (MED)
- Multiple Sulfatase Deficiency
- Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
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- N-Acetylglutamate Synthase Deficiency (NAGS)
- Nemaline Myopathy
- Neonatal Onset Multisystem Inflammatory Disease
- Neonatal Severe Primary Hyperparathyroidism (NSHPT)
- Netherton Syndrome
- Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
- Neuronal Ceroid Lipofuscinoses (NCL)
- Neuronal ceroid lipofuscinosis (classic juvenile)
- Neuronal ceroid lipofuscinosis (congential)
- Neuronal ceroid lipofuscinosis (Finnish variant, late infantile)
- Neuronal ceroid lipofuscinosis (Finnish, Northern epilepsy)
- Neuronal ceroid lipofuscinosis (late infantile/early juvenile)
- Neuronal Ceroid-Lipofuscinosis 2 (CLN2)
- Neutral lipid storage disease with ichthyosis (NLSD)
- Neutropenia, X-linked
- Neutrophil Immunodeficiency Syndrome
- Nevoid basal cell carcinoma syndrome
- Newfoundland Rod-Cone Dystrophy
- Niemann-Pick Disease, Type C
- Niemann-Pick Disease, Types A and B
- Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
- Non-Bullous Congenital Ichthyosiform Erythroderma
- Non-epidermolytic Palmoplantar Keratoderma (NEPPK)
- Non-Herlitz Junctional Epidermolysis Bullosa
- Nonsyndromic autosomal recessive mental retardation
- Nonsyndromic X-Linked Mental Retardation
- Nonsyndromic X-Linked mental retardation/ ATRX
- Nonsyndromic X-Linked Mental Retardation/ Fried Syndrome
- Nonsyndromic X-Linked Mental Retardation/ West/ Proud/ Partington/ XLAG
- Nonsyndromic X-Linked Mental Retardation/ XLMR-optic atrophy
- Noonan Syndrome
- Noonan-Like Syndrome
- Norrie Disease
- NSARMR and ARMR with RP
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- Oculo Facio Cardio Dental Syndrome
- Odonto-onycho-dermal dysplasia (OODD)
- Ohtahara Syndrome
- Omenn Syndrome
- Open Spine/Abdominal Wall Defects
- Optic Atrophy
- Oral-Facial-Digital syndrome Type 1
- Ornithine Transcarbamylase (OTC) Deficiency
- Osteopetrosis Type 1, Autosomal Dominant
- Osteoporosis-Pseudoglioma Syndrome
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- Pachyonychia Congenita type 1 (PC1)
- Pachyonychia Congenita type 2 (PC2)
- Pallister Hall syndrome (PHS)
- Parathyroid Carcinoma
- Paroxysmal Extreme Pain Disorder (PEPD)
- Paroxysmal Kinesigenic Dyskinesia (PKD)
- Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA)
- Partial Epilepsy with Auditory Features, Autosomal Dominant
- Pearson Syndrome
- Pendred Syndrome
- Permanent Neonatal Diabetes (PND)
- Peter’s Anomaly
- Peutz-Jeghers Syndrome
- Phenylketonuria
- Pneumothorax, Primary Spontaneous
- Pompe Disease
- Pontocerebellar Hypoplasia Type 6
- Popliteal Pterygium Syndrome
- Prader-Willi syndrome (PWS)
- Premature Ovarian Failure (FMR1-Associated)
- Premature Ovarian Failure (POF)
- Primary AR microcephaly
- Primary/Systemic Carnitine Deficiency
- Progressive External Ophthalmoplegia (PEO)
- Progressive Myoclonic Epilepsy
- Progressive Neurodevelopmental Syndrome in Males
- Propionic Acidemia
- Proteus Syndrome/Proteus-like Syndrome
- Pseudo-Vitamin D-Deficiency Rickets
- Pseudoachondroplasia (PSACH)
- Pseudoxanthoma Elasticum (PXE)
- PTEN associated Macrocephaly/Autism Syndrome
- PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome
- Purine Nucleoside Phosphorylase Deficiency
- Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
- Pyridoxine Dependent Seizures
- Pyruvate Carboxylase Deficiency
- Pyruvate dehydrogenase complex deficiency
- Pyruvate Dehydrogenase E1-Alpha Deficiency
- Pyruvate Dehydrogenase E1-Beta Deficiency
- Pyruvate Metabolism
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- Renal-Coloboma Syndrome / Papillorenal Syndrome
- Reticular Dysgenesis
- Retinitis Pigmentosa, Autosomal Dominant (adRP)
- Retinitis Pigmentosa, Autosomal Recessive (arRP)
- Retinitis Pigmentosa, X-linked
- Retinitis Punctata Albescens
- Retinoschisis, Juvenile X-Linked
- Rett syndrome
- Rickets, Hypophosphatemic, Autosomal Dominant
- Rickets, Hypophosphatemic, Autosomal Recessive
- Rieger Syndrome
- Rubinstein-Taybi Syndrome (RSTS)
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- Salla Disease
- Sandhoff Disease
- Sanfilippo Syndrome A, B, C and D
- Saposin A Deficiency
- Saposin B Deficiency
- Saposin C Deficiency
- Schopf-Schulz-Passarge Syndrome (SSPS)
- Sensorineural Hearing Loss (SNHL)
- Septo-Optic Dysplasia
- Severe Combined Immune Deficiency (SCID)
- Severe Combined Immune Deficiency (SCID), ADA Type
- Severe Combined Immune Deficiency (SCID), DCLRE1C Type
- Severe Combined Immune Deficiency (SCID), IL7R Type
- Severe Combined Immune Deficiency (SCID), JAK3 Type
- Severe Combined Immune Deficiency (SCID), RAG Type
- Severe Combined Immune Deficiency (XSCID), X-linked
- Severe Combined Immune Deficiency with Radiation Sensitivity
- Severe Congenital Neutropenia
- Short QT Syndrome (SQTS)
- Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
- Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
- Shwachman-Diamond Syndrome (SDS)
- Sialidosis
- Sideroblastic Anemia
- Simpson-Golabi-Behmel Syndrome (SGBS)
- Sjogren Larsson Syndrome (SLS)
- Small Fiber Neuropathy (SFN)
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome (SMS)
- Sotos Syndrome
- Spastic Paraplegia 7
- Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
- Split Hand - Split Foot Malformation
- Spondylometaepiphyseal Dysplasia, Menger Type
- Stargardt Disease
- Steatocystoma Multiplex
- Sudden Cardiac Arrest
- Sudden Unexplained Death
- Superficial Epidermolytic Ichthyosis
- Supravalvular Aortic Stenosis
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- Tay-Sachs Disease
- Testicular Feminization Syndrome (TFM)
- Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
- Thrombocytopenia, X-linked
- TNF Receptor-Associated Periodic Syndrome
- Townes-Brocks Syndrome
- Transthyretin Amyloidosis
- Treacher Collins Syndrome (TCS)
- Triphalangeal Thumb Polydatcyly
- Triple-A Syndrome
- Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) / Familial Hibernian Fever / Autosomal Dominant Familial Periodic Fever
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type I
- Tyrosinemia type II
- Tyrosinemia type III
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- Uniparental Disomy
- Unna-Thost disease
- Unverricht-Lundborg Disease (Baltic Myoclonus)
- Unverricht-Lundborg disease (progressive myoclonic epilepsy)
- Urea Cycle Disorders
- Usher Syndrome
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- Van Buchem Disease Type 2
- Van der Woude Syndrome
- Velocardiofacial syndrome
- Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
- Vitreoretinochoroidopathy, Autosomal Dominant
- Vohwinkel syndrome
- Von Hippel-Lindau syndrome
- Vorner syndrome
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- Wermer syndrome
- West Syndrome
- White Sponge Nevus
- Williams-Beuren syndrome
- Wiskott-Aldrich syndrome
- Wolff-Parkinson-White Syndrome
- Wolfram Syndrome
