בדיקת ZER4Family – בדיקת סקר גנטי מורחב

3MC syndrome 2

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-methylglutaconic aciduria, type III – Costeff

3-methylglutaconic aciduria, type IX

Abetalipoproteinemia ABL

 Achromatopsia-2 – total color blindness

 Achromatopsia-3,macular degeneration, juvenile

 Acrodermatitis enteropathica

 Acyl-CoA dehydrogenase, very long-chain, VLCAD deficiency

 Adams-Oliver syndrome 4

 Adenosine deaminase 2 deficency

 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

 Adrenocorticotropic hormone deficiency

 Afibrinogenemia congenital

 Aicardi Goutieres syndrome

 Aicardi-Goutieres syndrome 2

 Al Kaissi syndrome

 Alacrima, achalasia, and mental retardation syndrome

 Albinism, oculocutaneous, type IA (OCA1A)

 Albinism, oculocutaneous, type II

 Albinism, oculocutaneous, type IV

 Alkaptonuria

 Alport Syndrome, COL4A3-Related

 Alport syndrome, COL4A4-Related

 Alport syndrome, COL4A5-Related

 Alstrom syndrome

 Amelogenesis imperfecta, type IG (enamel-renal syndrome)

 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

 Argininosuccinic aciduria

 Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome

 Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome 2

 Arthrogryposis, mental retardation, and seizures

 Arthropathy, progressive pseudorheumatoid, of childhood

 Asparagine synthetase deficiency

 Aspartylglucosaminuria

 Ataxia Telangiectasia like disorder

 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

 Ataxia-tyelangiectasia

 ATPase deficiency, nuclear encoded

 Autoimmune polyendocrinopathy syndrome , type I (APS-1) with or without reversible metaphyseal dysplasia

 Autoinflammation, lipodystrophy, and dermatosis syndrome

 Autosomal Recessive Hereditary Lymphedema

Bardet-Biedl syndrome 1

 Bardet-Biedl syndrome 10

 Bardet-Biedl syndrome 11

 Bardet-Biedl syndrome 2

 Bardet-Biedl syndrome 3

 Bardet-Biedl syndrome 4

 Bardet-Biedl syndrome 7

 Bardet-Biedl syndrome 9

 Bare lymphocyte syndrome, type II (SCID)

 Bartter Syndrome, Gitelman Variant

 Bartter syndrome, type 3 and Gitelman syndrome

 Bartter syndrome, type 4a infantile variant with sensorineuronal deafness

 Basel-Vanagaite-Smirin-Yosef syndrome

 Beta-ureidopropionase deficiency

 Bietti crystalline corneoretinal dystrophy

 Bilateral Frontoparietal Polymicrogyria (BFPP)

 Biotinidase deficiency

 Birk Volodarsky PMR Synderome Hypotonia and psychomotor developmental delay

 Birk-Landau-Perez cerebro-renal syndrome

 Bloom syndrome

 Brachydactyly type A2

 Brittle cornea syndrome 1

Canavan Disease

 Carbamoylphosphate synthetase I deficiency

 Cardio-Cutaneous Syndrome DCM

 Cardiomyopathy, dilated – Lethal Congenital Arthrogryposis

 Cardiomyopathy, dilated , 1GG neonatal isolated

 Carnitine deficiency, systemic primary

 Carnitine palmitoyltransferase 1 deficiency

 Carnitine-acylcarnitine translocase deficiency – CACT

 Cerebellar ataxia and developmental delay

 Cerebral creatine deficiency syndrome 3

 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome – CEDNIK Syndrome

 Cerebrotendinous xanthomatosis

 Ceroid lipofuscinosis, neuronal, 1

 Ceroid lipofuscinosis, neuronal, 2

 Ceroid lipofuscinosis, neuronal, 5

 Ceroid lipofuscinosis, neuronal, 6

 Ceroid lipofuscinosis, neuronal, 7

 Chanarin-Dorfman syndrome

 Cholestasis, progressive familial intrahepatic 1

 Cholestasis, progressive familial intrahepatic type 2

 Choreoacanthocytosis

 Chronic granulomatous disease due to deficiency of NCF-1

 Chronic granulomatous disease due to deficiency of NCF-2

 Chronic granulomatous disease, X-linked

 Chronic granulomatous disease,autosomal, due to deficiency of CYBA

 Chudley-McCullough syndrome

 Ciliary dyskinesia, primary, 1, with or without situs inversus

 Ciliary dyskinesia, primary, 12

 Ciliary dyskinesia, primary, 16

 Ciliary dyskinesia, primary, 20

 Ciliary dyskinesia, primary, 26

 Ciliary dyskinesia, primary, 27

 Ciliary dyskinesia, primary, 29

 Ciliary dyskinesia, primary, 3, with or without situs inversus (CILD3/PCD)

 Ciliary dyskinesia, primary, 7, with or without situs inversus

 Ciliary dyskinesia, primary, 9, with or without situs inversus

 Citrullinemia,classic

 Cleft lip/palate ectodermal dysplasia, CLPED1 (Zlotogora-Ogur syndrome)

 Cockayne syndrome, type A

 Cockayne syndrome, type B

 Coenzyme Q10 deficiency, primary, 7

 Cohen syndrome

 Combined D-2- and L-2-hydroxyglutaric aciduria

 Combined malonic and methylmalonic aciduria

 Combined oxidative phosphorylation deficiency 24 (COXPD24)

 Cone-rod dystrophy 13

 Cone-rod dystrophy 18

 Cone-rod dystrophy 3

 cone-rod dystrophy 9

 Congenital chloride diarhhea (CLD)

 Congenital disorder of deglycosylation

 Congenital disorder of glycosylation

 Congenital disorder of glycosylation Ia

 Congenital disorder of glycosylation, type If

 Congenital disorder of glycosylation, type IIc

 Congenital disorder of glycosylation, type IId

 Congenital disorder of glycosylation, type Im

 Congenital disorder of glycosylation, type It

 Congenital myopathy

 Congenital recessive ichthyoses (CRI)

 Congenital surfactant deficiency (Surfactant metabolism dysfunction, pulmonary, 3)

 CPT deficiency, hepatic, type II

 Cutis laxa, Autosomal Recessive, type IIA

 Cystic fibrosis

 Cystinosis,CTNS-related

Deafness, autosomal recessive

 Deafness, autosomal recessive 15

 Deafness, Autosomal Recessive 16

 Deafness, autosomal recessive 1A

 Deafness, Autosomal Recessive 1B

 Deafness, Autosomal Recessive 22

 Deafness, Autosomal Recessive 28

 Deafness, Autosomal Recessive 3

 Deafness, Autosomal Recessive 59

 Deafness, Autosomal Recessive 7

 Deafness, Autosomal Recessive 76

 Deafness, Autosomal Recessive 77

 Deafness, Autosomal Recessive 8/10

 Deafness, Autosomal Recessive 9

 Desmosterolosis

 Developmental delay, cognitive impairment, and atopic atrophy

 Diabetes insipidus, nephrogenic

 Diaphanospondylodysostosis

 Diarrhea 7, congenital

 Dihydrolipoamide Dehydrogenase Deficiency

 Dysautonomia, familial

 Dyserythropoietic anemia, congenital, type Ia

 Dyserythropoietic anemia, congenital, type II

 Dyskeratosis congenita

 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

 Dystrophic epidermolysis bullosa, Autosomal Recessive,COL7A1-Related

Early infantile epileptic encephalopathy 15

 Ectodermal dysplasia

 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, Autosomal Recessive

 Ehlers Danlos syndrome, type VIIC

 Encephalopathy, fatal

 Epidermolysis bullosa simplex

 Epidermolysis bullosa simplex, Autosomal Recessive 2

 Epidermolysis bullosa, junctional

 Epidermolysis bullosa, junctional, Herlitz type

 Epidermolysis bullosa, junctional, non-Herlitz type

 Epidermolysis bullosa, junctional, with pyloric atresia – Carmi syndrome

 Epilepsy, progressive myoclonic 1B

 Epilepsy, progressive myoclonic 2A (Lafora)

 Epilepsy, pyridoxine-dependent

 Epileptic encephalopathy, early infantile, 18

 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE

 Exfoliative ichthyosis, Autosomal Recessive, ichthyosis bullosa of Siemens-like

Factor VII deficiency

 Familial neurohypophyseal diabetes insipidus

 Fanconi Anemia

 Fanconi Anemia – complementation group G

 Fanconi anemia, complementation group A

 Fanconi anemia, complementation group C

 Fanconi-Bickel syndrome

 Folate malabsorption, hereditary

 Fructose intolerance

 Fumarase deficiency, leiomyomatosis and renal cell cancer

Galactosemia

 Gaucher disease, , type I

 Giant axonal neuropathy 1

 Glanzmann thrombasthenia, ITGA2B-related

 Glanzmann thrombasthenia, ITGB3-related

 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset

 Glucocorticoid deficiency 4

 Glutaric acidemia IIC

 Glutaricaciduria type I

 Glycine encephalopathy and non-ketoic hyperglycinemia, GLDC-related

 Glycine encephalopathy, AMT-related

 Glycogen storage disease Ia – GDS1a

 Glycogen storage disease Ib

 Glycogen storage disease III

 Glycogen storage disease IXc

 GM1-gangliosidosis, type I

 Goldberg-Shprintzen megacolon syndrome

 Gray platelet syndrome

 Griscelli syndrome, type 2

 Griscelli syndrome, type 3

 Growth hormone deficiency, isolated, type IA

 Growth hormone deficiency, isolated, type IB

 Growth retardation, developmental delay, coarse facies, and early death

 Gyrate atrophy of choroid and retina with or without ornithinemia

Haim-Munk syndrome

 Hemoglobipathies (Including sickle-cell anemia and beta thalassemia, Hb C, D, E, O)

 Hemolytic anemia & immune-mediated polyneuropathy, CD59-related

 Hemolytic uremic syndrome, complement factor H deficiency

 Hemophagocytic lymphohistiocytosis, familial, 3

 Hereditary inclusion body myopathy (HIBM)

 Hermansky-Pudlak syndrome 1

 Hermansky-Pudlak syndrome 3

 Hermansky-Pudlak syndrome 6

 Histiocytosis-lymphadenopathy plus syndrome

 HMG-CoA lyase deficiency

 Homocystinuria due to MTHFR deficiency

 Homocystinuria, thrombosis, hyperhomocysteinemic

 Hydrocephalus, nonsyndromic, Autosomal Recessive

 Hyperekplexia, hereditary 1, autosomal dominant or recessive

 Hyper-IgD syndrome

 Hyper-IgE recurrent infection syndrome, autosomal recessive

 Hyperinsulinemic hypoglycemia, familial, 1 (PHHI/HHF1)

 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

 Hyperoxaluria, primary, type I

 Hyperoxaluria, primary, type II

 Hyperoxaluria, primary, type III

 Hyperphosphatasia with mental retardation syndrome 4

 Hypertophic Cardiomyopathy

 Hypertrophic osteoarthropathy, primary, Autosomal Recessive 2

 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis

 Hypoaldosteronism, congenital, due to CMO II deficiency

 Hypomagnesemia 1, intestinal

 Hypomyelination and developmental delay

 Hypoparathyroidism retardation dysmorphism syndrome

 Hypophosphatasia, infantile

 Hypothyroidism, congenital, nongoitrous, 1

 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (HPFR2)

 Hypotonia-cystinuria syndrome

Ichthyosis, congenital, Autosomal Recessive 1

Ichthyosis, congenital, Autosomal Recessive 4A

Immunodeficiency, common variable, 8, with autoimmunity

Immunodeficiency-centromeric instability-facial anomalies syndrome-2

Infantile cerebellar-retinal degeneration

Infantile neuroaxonal dystrophy 1 (INAD)

Infantile neurodegenerative disorder – Early onset progressive encephalopathy (PEBAT)

Inflammatory bowel disease 28, early onset, autosomal recessive

Insensitivity to pain, congenital, with anhidrosis (CIPA)

Insensitivity to pain, congenital, with anhidrosis (CIPA)

Isovaleric academia

Jalili syndrome

Joubert syndrome

Joubert syndrome (JBTS)

Joubert syndrome 2 (MKS2)

Joubert syndrome type 6 (MSK3)

Joubert syndrome-3

Kindler syndrome

Kohlschutter-Tonz syndrome

Krabbe disease

Laron dwarfism

 Laryngoonychocutaneous Syndrome

 Leber congenital amaurosis 1 , Cone-rod dystrophy 6

 Leber congenital amaurosis 13

 Leber congenital amaurosis 2

 Leber congenital amaurosis 4

 Leber congenital amaurosis 5

 Leber congenital amaurosis 8

 Leigh syndrome

 Leigh syndrome related to USMG5

 Leigh syndrome, due to COX deficiency

 Leprechaunism, Donohue syndrome

 Lethal congenital contractural syndrome 2

 Lethal congenital contractural syndrome 3

 Lethal congenital contracture syndrome 4

 Lethal congenital contracture syndrome 7

 Leukodystrophy and acquired microcephaly with or without dystonia

 Leukodystrophy, early onset spastic paraparesis, acquired microcephaly, optic atrophy and risk of early death

 Leukodystrophy, hypomyelinating, 3

 Leukodystrophy, hypomyelinating, 4, HLD4 (HSP60)

 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

 LIFT, Liver failure infantile transient

 Limb-girdle muscular dystrophy

 Lissencephaly 7 with cerebellar hypoplasia

 Long-Chain hydroxylacyl-CoA dehydrogenase deficiency (LCHAD)

 Lymphoproliferative syndrome

Macrocephaly, alopecia, cutis laxa, and scoliosis

 Mandibuloacral dysplasia with type B lipodystrophy

 Maple syrup urine disease, type Ia

 Maple syrup urine disease, type Ib

 Maple syrup urine disease, type II

 Meckel syndrome 1

 Meckel syndrome 11

 Meckel syndrome 4

 Meckel syndrome 5

 Meckel syndrome 8

 Medium-chain Acyl-CoA dehydrogenase deficiency

 Megalencephalic leukoencephalopathy with subcortical cysts

 Mental retardation, Autosomal Recessive 13

 Mental retardation, Autosomal Recessive 15

 Mental retardation, Autosomal Recessive 3 – MRT3

 Mental retardation, Autosomal Recessive 3 – MRT3

 Mental retardation, Autosomal Recessive 40

 Metachromatic leukodystrophy – MLD

 Methylmalonic acidemia, mut(0) type

 Methylmalonic aciduria and homocystinuria, cblC type

 Microcephalic osteodysplastic primordial dwarfism, type II

 Microcephaly 9, primary, Autosomal Recessive

 Microcephaly intellectual disability and dysmorphism

 Microcephaly, postnatal progressive, with seizures and brain atrophy ((ICCA)

 Microcephaly, primary, Autosomal Recessive

 Microcephaly, primary, Autosomal Recessive

 Microcephaly, seizures, spasticity, and brain calcification (MISSBC)

 Microcephaly, short stature, and impaired glucose metabolism

 Microphthalmia

 Microphthalmia, isolated 8

 Minicore myopathy with external ophthalmoplegia

 Mitochondrial complex I deficiency – NDUFA11 gene

 Mitochondrial complex I deficiency – NDUFAF5 gene

 Mitochondrial complex I deficiency – NDUFS6 gene

 Mitochondrial complex I deficiency-NDUFS2 gene

 Mitochondrial complex III deficiency, nuclear type 4

 Mitochondrial DNA depletion syndrome (hepatocerebral type)

 Mitochondrial DNA depletion syndrome 1 (MNGIE type)

 Mitochondrial DNA depletion syndrome 2 (myopathic type)

 Mitochondrial DNA depletion syndrome 5

 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

 Mitochondrial DNA depletion syndrome 8

 Mitochondrial encephalomyopathy complex I deficiency

 Mitochondrial muscle myopathy

 Mitochondrial myopathy and sideroblastic anemia 1

 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

 Molybdenum cofactor deficiency A

 Molybdenum cofactor deficiency Type B

 Mucociliary clearance disorder

 Mucolipidosis III alpha/beta

 Mucolipidosis III gamma

 Mucolipidosis type IV – ML4

 Mucopolysaccharidisis type IIIA (Sanfilippo A)

 Mucopolysaccharidosis Type IH – Hurler syndrome

 Mucopolysaccharidosis type IIIB (Sanfilippo B)

 Multiple congenital anomalies-hypotonia-seizures syndrome 1

 Multiple congenital anomalies-hypotonia-seizures syndrome 3

 Multiple sulfatase deficiency

 Muscular dystrophy, congenital, due to partial LAMA2 deficiency

 Muscular dystrophy, limb-girdle, type 2A

 Muscular dystrophy, limb-girdle, type 2B

 Muscular dystrophy, limb-girdle, type 2C

 Muscular dystrophy-dystroglycanopathy

 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 – Walker Warburg syndrome

 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9

 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)

 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8)

 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5

 Myasthenia gravis, congenital

 Myasthenic syndrome, congenital, 4B, fast-channel

 Myasthenic syndrome, congenital, 5

 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

 Myopathy, congenital, progressive, with scoliosis

 Myopathy, myofibrillar, 7

 Myopia, high, with cataract and vitreoretinal degeneration

 Myotonia congenita, Autosomal Recessive

 Myotonia congenita,Autosomal Recessive

Nemaline myopathy 2

 Nemaline myopathy 5, Amish type

 Nemaline myopathy 8, Autosomal Recessive

 Nephronophthisis 2, infantile

 Nephrotic syndrome

 Nephrotic syndrome type 1

 Nephrotic syndrome, type 8

 Netherton syndrome

 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

 Neurodevelopmental, Cardiac, and Renal Syndrome

 Neuronal ceroid lipofuscinosis type 8, including northern epilepsy

 Neuronopathy, distal hereditary motor, type VI

 Neutropenia, severe congenital 4, Autosomal Recessive

 Neutropenia, severe congenital, 5, Autosomal Recessive

 Niemann-Pick disease type B, SMPD1-related

 Niemann-Pick disease type C1

 Night blindness, congenital stationary (complete), 1C, Autosomal Recessive

Omodysplasia 1

 Ornithine transcarbamylase deficiency

 Osteogenesis imperfecta, type IX

 Osteogenesis imperfecta, type VII

 Osteogenesis imperfecta, type XI

 Osteogenesis imperfecta, type XIV

 Osteopetrosis, Autosomal Recessive 1

 Osteopetrosis, Autosomal Recessive 8

 Otospondylomegaepiphyseal dysplasia (ZW)

Parkinson disease, early onset

 Pendred syndrome

 Periventricular heterotopia with microcephaly

 Peroxisome biogenesis disorder 1A (Zellweger)

 Peroxisome biogenesis disorder 4B (Zellweger syndrome)

 Peroxisome biogenesis disorder 5A (Zellweger)

 Phenylketonuria

 Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency

 Phosphoglycerate dehydrogenase deficiency

 Polyarteritis nodosa, childhood-onset

 Polycystic kidney & hepatic disease, PKHD1-related

 Pompe (Glycogen storage disease type II)

 Pontocerebellar hypoplasia type 1A

 Pontocerebellar hypoplasia type 2D

 Pontocerebellar hypoplasia, type 1B

 Pontocerebellar hypoplasia, type 1C

 Pontocerebellar hypoplasia, type 2E (PCCA2)

 Pontocerebellar hypoplasia, type 6

 Prolidase deficiency

 Propionic acidemia, PCCA-related

 Propionic acidemia, PCCB-related

 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

 Proximal myopathy and ophthalmoplegia

 Pseudohypoaldosteronism type I – SCNN1A gene

 Pseudohypoaldosteronism type I – SCNN1B gene

 Pycnodysostosis

Refsum disease

 Renal tubular acidosis (RTA), proximal, with ocular abnormalities and mental retardation

 Retinitis pigmentosa 1

 Retinitis pigmentosa 14

 Retinitis pigmentosa 25

 Retinitis pigmentosa 26

 Retinitis pigmentosa 27

 Retinitis pigmentosa 28

 Retinitis pigmentosa 36

 Retinitis pigmentosa 38

 Retinitis pigmentosa 43

 Retinitis pigmentosa 45

 Retinitis pigmentosa 49

 Retinitis pigmentosa 54

 Retinitis pigmentosa 57

 Retinitis pigmentosa 59

 Retinitis pigmentosa 62

 Retinitis pigmentosa 64

 Retinitis pigmentosa 69

 Retinitis pigmentosa 73

 Retinitis pigmentosa with intellectual disability

 Retinitis pigmentosa-40

 Rhizomelic chondrodysplasia punctata type 1

 Rickets, vitamin D-resistant, type IIA

 Roberts-SC phocomelia syndrome

Sandhoff disease, infantile, juvenile, and adult forms

 Schimke immunoosseous dysplasia

 SCID, autosomal recessive, T-negative/B-positive type

 SESAME syndrome

 Severe combined immudeficiency, B cell-negative, RAG1-related

 Severe combined immudeficiency, B cell-negative, RAG2-related

 Severe combined immudeficiency, B cell-negative, RAG2-related

 Severe combined immunodeficiency due to ADA deficiency

 Severe combined immunodeficiency, Athabascan type

 Severe congenital neutropenia type 3 (SCN3), a.k.a. Kostmann disease

 Short stature, developmental delay, and congenital heart defects

 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

 Sialic acid storage disorder, infantile (ISSD)

 Smith Lemli Opitz syndrome

 Spastic ataxia 2, Autosomal Recessive

 Spastic paraplegia 11, Autosomal Recessive

 Spastic paraplegia 35, Autosomal Recessive

 Spastic paraplegia 47, Autosomal Recessive

 Spastic paraplegia 49, Autosomal Recessive

 Spastic paraplegia 53, Autosomal Recessive

 Spastic paraplegia 55, Autosomal Recessive

 Spastic paraplegia 5A, Autosomal Recessive

 Spastic paraplegia 74, Autosomal Recessive

 Spastic paraplegia, complicated

 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

 Spinal muscular atrophy-1

 Spondylocostal dysostosis 1, Autosomal Recessive

 Spondyloenchondrodysplasia with immune dysregulation

 Spondyloepimetaphyseal dysplasia

 Spondyloepimetaphyseal dysplasia (Shohat-type)

 Spondylometaepiphyseal dysplasia, short limb-hand type

 Striatonigral degeneration, Infantile Bilateral Striatal Necrosis (IBSN)

 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome-LIFR related

Tay-Sachs disease

 Thiamine-responsive megaloblastic anemia syndrome

 Thrombocytopenia, congenital amegakaryocytic

 Thyrosinemia type III

 Tumoral calcinosis, familial, normophosphatemic

 Tumoral calcinosis, hyperphosphatemic, familial

 Tyrosinemia, type I

Urbach-Wiethe disease

 Usher Syndrome Type ID

 Usher syndrome, type 1B

 Usher syndrome, type 1C

 Usher syndrome, type 1F

 Usher syndrome, type 1G

 Usher syndrome, type 2A

 Usher syndrome, type 2C

 Usher syndrome, type 3A

 Usher syndrome, type IV

Ventricular tachycardia, catecholaminergic polymorphic, 2

 Ventriculomegaly with cystic kidney disease

 Vici syndrome

 Vitroretinal vascular malformations, congenital

Walker-Warburg Syndrome, type A, 1

 Walker-Warburg Syndrome, type A, 2

 Warsaw breakage syndrome

 Werner syndrome

 Wilson disease

 Wolfram-like syndrome, Autosomal Dominant

 Wolman disease

 Woodhouse-Sakati syndome

Xeroderma pigmentosum, group C

 Xeroderma pigmentosum, group D

 Xeroderma pigmentosum/Cockayne

 X-linked adrenoleukodystrophy