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ASPARAGINE SYNTHETASE DEFICIENCY
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(OMIM:615574)
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ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION
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(OMIM:270500)
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ATAXIA-OCULOMOTOR APRAXIA 3
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(OMIM:615217)
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Adult-onset autosomal dominant leukodystrophy
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(Orphanet:99027)
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Alport syndrome
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(Orphanet:63)
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Ataxia - hypogonadism - choroidal dystrophy
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(Orphanet:1180)
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Ataxia-telangiectasia-like disorder
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(Orphanet:251347)
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Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
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(Orphanet:93114)
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Autosomal dominant progressive external ophthalmoplegia
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(Orphanet:254892)
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Autosomal dominant progressive nephropathy with hypertension
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(Orphanet:88659)
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Autosomal dominant spastic paraplegia type 10
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(Orphanet:100991)
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Autosomal dominant spastic paraplegia type 12
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(Orphanet:100993)
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Autosomal dominant spastic paraplegia type 13
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(Orphanet:100994)
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Autosomal dominant spastic paraplegia type 36
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(Orphanet:320365)
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Autosomal dominant spastic paraplegia type 4
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(Orphanet:100985)
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Autosomal dominant spastic paraplegia type 6
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(Orphanet:100988)
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Autosomal dominant spastic paraplegia type 8
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(Orphanet:100989)
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Autosomal recessive Alport syndrome
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(Orphanet:88919)
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Autosomal recessive axonal neuropathy with neuromyotonia
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(Orphanet:324442)
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Autosomal recessive deafness-onychodystrophy syndrome
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(Orphanet:79500)
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Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
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(Orphanet:363543)
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Autosomal recessive limb-girdle muscular dystrophy type 2L
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(Orphanet:206549)
|
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Autosomal recessive limb-girdle muscular dystrophy type 2O
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(Orphanet:206564)
|
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Autosomal recessive spastic paraplegia type 11
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(Orphanet:2822)
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Autosomal recessive spastic paraplegia type 14
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(Orphanet:100995)
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Autosomal recessive spastic paraplegia type 15
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(Orphanet:100996)
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Autosomal recessive spastic paraplegia type 18
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(Orphanet:209951)
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Autosomal recessive spastic paraplegia type 26
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(Orphanet:101006)
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Autosomal recessive spastic paraplegia type 35
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(Orphanet:171629)
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Autosomal recessive spastic paraplegia type 46
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(Orphanet:320391)
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Autosomal recessive spastic paraplegia type 48
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(Orphanet:306511)
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Autosomal recessive spastic paraplegia type 54
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(Orphanet:320380)
|
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Autosomal recessive spastic paraplegia type 5A
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(Orphanet:100986)
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BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
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(OMIM:615483)
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BROWN-VIALETTO-VAN LAERE SYNDROME 2
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(OMIM:614707)
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Bilateral striopallidodentate calcinosis
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(Orphanet:1980)
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Biliary atresia
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(Orphanet:30391)
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C3 glomerulonephritis
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(Orphanet:329931)
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CLN13 disease
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(Orphanet:352709)
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Cerebellar ataxia-deafness-narcolepsy syndrome
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(Orphanet:314404)
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Charcot-Marie-Tooth disease type 4B3
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(Orphanet:363981)
|
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Charcot-Marie-Tooth disease type 4G
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(Orphanet:99953)
|
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Choreoacanthocytosis
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(Orphanet:2388)
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Coats plus syndrome
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(Orphanet:313838)
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Combined oxidative phosphorylation defect type 7
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(Orphanet:254930)
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Combined oxidative phosphorylation defect type 8
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(Orphanet:319504)
|
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Congenital cataract-hearing loss-severe developmental delay syndrome
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(Orphanet:300313)
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Congenital muscular dystrophy due to LMNA mutation
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(Orphanet:157973)
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Congenital muscular dystrophy, Ullrich type
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(Orphanet:75840)
|
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Corpus callosum agenesis - neuronopathy
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(Orphanet:1496)
|
|
Craniodiaphyseal dysplasia
|
(Orphanet:1513)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 28
|
(OMIM:608641)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 2A
|
(OMIM:600101)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 33
|
(OMIM:614211)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 51
|
(OMIM:613558)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 64
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(OMIM:614152)
|
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DEAFNESS, AUTOSOMAL DOMINANT 9
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(OMIM:601369)
|
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DPM1-CDG
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(Orphanet:79322)
|
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Diaphyseal medullary stenosis - bone malignancy
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(Orphanet:85182)
|
|
Diffuse panbronchiolitis
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(Orphanet:171700)
|
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Distal hereditary motor neuropathy type 1
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(Orphanet:139518)
|
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Distal hereditary motor neuropathy, Jerash type
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(Orphanet:139552)
|
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Distal myopathy with early respiratory muscle involvement
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(Orphanet:34521)
|
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Dystonia 16
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(Orphanet:210571)
|
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EPILEPSY, PROGRESSIVE MYOCLONIC, 1B
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(OMIM:612437)
|
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EPILEPSY, PROGRESSIVE MYOCLONIC, 5
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(OMIM:613832)
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
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(OMIM:614959)
|
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Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
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(Orphanet:352654)
|
|
Early-onset spastic ataxia-neuropathy syndrome
|
(Orphanet:313772)
|
|
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
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(OMIM:614131)
|
|
Familial Dupuytren contracture
|
(Orphanet:79142)
|
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Familial amyloid polyneuropathy
|
(Orphanet:85447)
|
|
Familial dysautonomia
|
(Orphanet:1764)
|
|
Familial idiopathic steroid-resistant nephrotic syndrome
|
(Orphanet:656)
|
|
Familial juvenile hyperuricemic nephropathy type 1
|
(Orphanet:209886)
|
|
Farber lipogranulomatosis
|
(Orphanet:333)
|
|
Gray platelet syndrome
|
(Orphanet:721)
|
|
Hereditary myoclonus - progressive distal muscular atrophy
|
(Orphanet:2590)
|
|
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
|
(Orphanet:289290)
|
|
Hypomyelination with atrophy of basal ganglia and cerebellum
|
(Orphanet:139441)
|
|
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
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(Orphanet:363412)
|
|
Hypotonia-speech impairment-severe cognitive delay syndrome
|
(Orphanet:371364)
|
|
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
|
(OMIM:614700)
|
|
INTERSTITIAL NEPHRITIS, KARYOMEGALIC
|
(OMIM:614817)
|
|
Immunoglobulin-mediated membranoproliferative glomerulonephritis
|
(Orphanet:329903)
|
|
Infantile dystonia-parkinsonism
|
(Orphanet:238455)
|
|
Infantile-onset ascending hereditary spastic paralysis
|
(Orphanet:293168)
|
|
Juvenile hyaline fibromatosis
|
(Orphanet:2028)
|
|
LUBS X-LINKED MENTAL RETARDATION SYNDROME
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(OMIM:300260)
|
|
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
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(Orphanet:137639)
|
|
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
|
(Orphanet:314051)
|
|
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
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(OMIM:606369)
|
|
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
|
(OMIM:613668)
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
(OMIM:613662)
|
|
Melorheostosis
|
(Orphanet:2485)
|
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
|
(Orphanet:255235)
|
|
Mitochondrial DNA depletion syndrome, myopathic form
|
(Orphanet:254875)
|
|
Mitochondrial neurogastrointestinal encephalomyopathy
|
(Orphanet:298)
|
|
Mohr-Tranebjaerg syndrome
|
(Orphanet:52368)
|
|
Multiple system atrophy
|
(Orphanet:102)
|
|
Myosclerosis
|
(Orphanet:289380)
|
|
NEPHROTIC SYNDROME, TYPE 3
|
(OMIM:610725)
|
|
NEPHROTIC SYNDROME, TYPE 9
|
(OMIM:615573)
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
|
(OMIM:610217)
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
|
(OMIM:615643)
|
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
|
(OMIM:613115)
|
|
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
|
(OMIM:613708)
|
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IE
|
(OMIM:614116)
|
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
|
(OMIM:614213)
|
|
Navajo neurohepatopathy
|
(Orphanet:255229)
|
|
Neuroferritinopathy
|
(Orphanet:157846)
|
|
Oculopharyngeal muscular dystrophy
|
(Orphanet:270)
|
|
PARKINSON DISEASE 20, EARLY-ONSET
|
(OMIM:615530)
|
|
PARKINSON DISEASE, LATE-ONSET
|
(OMIM:168600)
|
|
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
(OMIM:614369)
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2
|
(OMIM:609283)
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3
|
(OMIM:609286)
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4
|
(OMIM:610131)
|
|
PULMONARY HYPERTENSION, PRIMARY, 2
|
(OMIM:615342)
|
|
Pelizaeus-Merzbacher-like disease
|
(Orphanet:280270)
|
|
Pontocerebellar hypoplasia type 1
|
(Orphanet:2254)
|
|
Pontocerebellar hypoplasia type 3
|
(Orphanet:97249)
|
|
Pontocerebellar hypoplasia type 6
|
(Orphanet:166073)
|
|
Progressive external ophthalmoplegia - myopathy - emaciation
|
(Orphanet:352447)
|
|
Progressive myoclonic epilepsy type 3
|
(Orphanet:263516)
|
|
Progressive myoclonic epilepsy type 6
|
(Orphanet:280620)
|
|
Progressive myoclonic epilepsy with dystonia
|
(Orphanet:352596)
|
|
Progressive osseous heteroplasia
|
(Orphanet:2762)
|
|
Proximal spinal muscular atrophy type 3
|
(Orphanet:83419)
|
|
Riboflavin transporter deficiency
|
(Orphanet:97229)
|
|
Richards-Rundle syndrome
|
(Orphanet:1399)
|
|
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE
|
(OMIM:611302)
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
|
(OMIM:615705)
|
|
Sanfilippo syndrome type D
|
(Orphanet:79272)
|
|
Severe X-linked mitochondrial encephalomyopathy
|
(Orphanet:238329)
|
|
Sneddon syndrome
|
(Orphanet:820)
|
|
Spinocerebellar ataxia type 17
|
(Orphanet:98759)
|
|
Spinocerebellar ataxia type 3
|
(Orphanet:98757)
|
|
Spinocerebellar ataxia type 36
|
(Orphanet:276198)
|
|
Spinocerebellar ataxia type 6
|
(Orphanet:98758)
|
|
Spinocerebellar ataxia with axonal neuropathy type 2
|
(Orphanet:64753)
|
|
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
|
(Orphanet:308386)
|
|
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
|
(Orphanet:308393)
|
|
TREMOR, HEREDITARY ESSENTIAL, 1
|
(OMIM:190300)
|
|
Triple A syndrome
|
(Orphanet:869)
|
|
X-linked Alport syndrome
|
(Orphanet:88917)
|
|
X-linked cerebral adrenoleukodystrophy
|
(Orphanet:139396)
|
|
X-linked myopathy with postural muscle atrophy
|
(Orphanet:178461)
|