1p36 deletion syndrome
|
(Orphanet:1606)
|
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY
|
(OMIM:616034)
|
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA
|
(OMIM:616271)
|
3-methylglutaconic aciduria type 1
|
(Orphanet:67046)
|
3-phosphoserine phosphatase deficiency
|
(Orphanet:79350)
|
ADAMS-OLIVER SYNDROME 2
|
(OMIM:614219)
|
AICARDI-GOUTIERES SYNDROME 1
|
(OMIM:225750)
|
AICARDI-GOUTIERES SYNDROME 2
|
(OMIM:610181)
|
AICARDI-GOUTIERES SYNDROME 4
|
(OMIM:610333)
|
AICARDI-GOUTIERES SYNDROME 7
|
(OMIM:615846)
|
ALG1-CDG
|
(Orphanet:79327)
|
ALG3-CDG
|
(Orphanet:79321)
|
ASPARAGINE SYNTHETASE
|
(OMIM:108370)
|
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS
|
(OMIM:616192)
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
Alpers syndrome
|
(Orphanet:726)
|
Alpha-N-acetylgalactosaminidase deficiency type 2
|
(Orphanet:79280)
|
Alpha-mannosidosis
|
(Orphanet:61)
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
Amelo-cerebro-hypohidrotic syndrome
|
(Orphanet:1946)
|
Argininemia
|
(Orphanet:90)
|
Aspartylglucosaminuria
|
(Orphanet:93)
|
Autosomal recessive chorioretinopathy-microcephaly
|
(Orphanet:2518)
|
Autosomal recessive deafness-onychodystrophy syndrome
|
(Orphanet:79500)
|
Autosomal recessive spastic ataxia with leukoencephalopathy
|
(Orphanet:314603)
|
Autosomal recessive spastic paraplegia type 15
|
(Orphanet:100996)
|
Autosomal recessive spastic paraplegia type 32
|
(Orphanet:171622)
|
Autosomal recessive spastic paraplegia type 46
|
(Orphanet:320391)
|
Autosomal recessive spastic paraplegia type 49
|
(Orphanet:320385)
|
Beta-mannosidosis
|
(Orphanet:118)
|
Beta-propeller protein-associated neurodegeneration
|
(Orphanet:329284)
|
CADDS
|
(Orphanet:369942)
|
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
|
(OMIM:601088)
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4
|
(OMIM:615268)
|
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2
|
(OMIM:612900)
|
CLN1 disease
|
(Orphanet:228329)
|
CLN2 disease
|
(Orphanet:228349)
|
CLN3 disease
|
(Orphanet:228346)
|
CLN4A disease
|
(Orphanet:228340)
|
CLN7 disease
|
(Orphanet:228366)
|
CLN8 disease
|
(Orphanet:228354)
|
CLN9 disease
|
(Orphanet:228357)
|
COCKAYNE SYNDROME A
|
(OMIM:216400)
|
COCKAYNE SYNDROME B
|
(OMIM:133540)
|
COG4-CDG
|
(Orphanet:263501)
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY
|
(OMIM:616266)
|
CYSTINOSIS, NEPHROPATHIC
|
(OMIM:219800)
|
Carbamoylphosphate synthetase deficiency
|
(Orphanet:147)
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
Carpenter syndrome
|
(Orphanet:65759)
|
Cerebellar ataxia - hypogonadism
|
(Orphanet:1173)
|
Cerebrotendinous xanthomatosis
|
(Orphanet:909)
|
Cockayne syndrome
|
(Orphanet:191)
|
Combined oxidative phosphorylation defect type 14
|
(Orphanet:319519)
|
Congenital cataract-hearing loss-severe developmental delay syndrome
|
(Orphanet:300313)
|
Congenital cataracts - facial dysmorphism - neuropathy
|
(Orphanet:48431)
|
Congenital neuronal ceroid lipofuscinosis
|
(Orphanet:168486)
|
Constitutional megaloblastic anemia with severe neurologic disease
|
(Orphanet:319651)
|
Costello syndrome
|
(Orphanet:3071)
|
Cystinosis
|
(Orphanet:213)
|
Cystinuria
|
(Orphanet:214)
|
Cystinuria type B
|
(Orphanet:93613)
|
Dihydropteridine reductase deficiency
|
(Orphanet:226)
|
Dihydropyrimidine dehydrogenase deficiency
|
(Orphanet:1675)
|
Dravet syndrome
|
(Orphanet:33069)
|
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
|
(OMIM:615924)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
|
(OMIM:614558)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
|
(OMIM:615473)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
(OMIM:616211)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
(OMIM:616339)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
|
(OMIM:612164)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
(OMIM:613477)
|
Early myoclonic encephalopathy
|
(Orphanet:1935)
|
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
|
(Orphanet:352654)
|
Emanuel syndrome
|
(Orphanet:96170)
|
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
|
(Orphanet:319678)
|
FADD-related immunodeficiency
|
(Orphanet:306550)
|
Familial encephalopathy with neuroserpin inclusion bodies
|
(Orphanet:85110)
|
Fatal infantile lactic acidosis with methylmalonic aciduria
|
(Orphanet:17)
|
Fine-Lubinsky syndrome
|
(Orphanet:1272)
|
Free sialic acid storage disease, infantile form
|
(Orphanet:309324)
|
Frontotemporal dementia with motor neuron disease
|
(Orphanet:275872)
|
Fucosidosis
|
(Orphanet:349)
|
Fumaric aciduria
|
(Orphanet:24)
|
GCS1-CDG
|
(Orphanet:79330)
|
GM1 gangliosidosis type 2
|
(Orphanet:79256)
|
GORDON HOLMES SYNDROME
|
(OMIM:212840)
|
Galloway-Mowat syndrome
|
(Orphanet:2065)
|
Gaucher disease type 2
|
(Orphanet:77260)
|
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
|
(OMIM:614207)
|
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
|
(Orphanet:289290)
|
Hypotonia-cerebral atrophy-hyperglycinemia syndrome
|
(Orphanet:363424)
|
Infantile neuroaxonal dystrophy
|
(Orphanet:35069)
|
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
|
(Orphanet:2958)
|
Intellectual deficit, X-linked, Brooks type
|
(Orphanet:3056)
|
Intellectual disability-developmental delay-contractures syndrome
|
(Orphanet:3454)
|
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
|
(Orphanet:369837)
|
Isolated CoQ-cytochrome C reductase deficiency
|
(Orphanet:1460)
|
Ito hypomelanosis
|
(Orphanet:435)
|
Keratosis follicularis - dwarfism - cerebral atrophy
|
(Orphanet:2339)
|
Knobloch syndrome
|
(Orphanet:1571)
|
Late infantile neuronal ceroid lipofuscinosis
|
(Orphanet:168491)
|
Lathosterolosis
|
(Orphanet:46059)
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
|
(OMIM:613925)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
(OMIM:614255)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
|
(OMIM:615802)
|
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
|
(OMIM:616171)
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY
|
(OMIM:615760)
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
|
(OMIM:615157)
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
|
(OMIM:615838)
|
MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
|
(OMIM:600333)
|
MPDU1-CDG
|
(Orphanet:79323)
|
Macrocephaly - spastic paraplegia - dysmorphism
|
(Orphanet:2429)
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
McLeod neuroacanthocytosis syndrome
|
(Orphanet:59306)
|
Methylcobalamin deficiency type cblE
|
(Orphanet:2169)
|
Methylcobalamin deficiency type cblG
|
(Orphanet:2170)
|
Methylmalonic acidemia with homocystinuria, type cblJ
|
(Orphanet:369955)
|
Mevalonic aciduria
|
(Orphanet:29)
|
Micro syndrome
|
(Orphanet:2510)
|
Microcephalic primordial dwarfism due to ZNF335 deficiency
|
(Orphanet:329228)
|
Microcephaly-capillary malformation syndrome
|
(Orphanet:294016)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
(Orphanet:1933)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
|
(Orphanet:369897)
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
|
(Orphanet:279934)
|
Mitochondrial DNA depletion syndrome, myopathic form
|
(Orphanet:254875)
|
Multiple sulfatase deficiency
|
(Orphanet:585)
|
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1
|
(OMIM:600462)
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
|
(OMIM:256600)
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
|
(OMIM:610217)
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IE
|
(OMIM:614116)
|
Nasu-Hakola disease
|
(Orphanet:2770)
|
Neurological conditions associated with aminoacylase 1 deficiency
|
(Orphanet:137754)
|
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
|
(OMIM:600329)
|
Orofaciodigital syndrome type 4
|
(Orphanet:2753)
|
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
|
(OMIM:614886)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
|
(OMIM:614678)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
|
(OMIM:612389)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
|
(OMIM:613811)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
|
(OMIM:615851)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3
|
(OMIM:609286)
|
Paroxysmal exertion-induced dyskinesia
|
(Orphanet:98811)
|
Pelizaeus-Merzbacher-like due to GJC2 mutation
|
(Orphanet:280282)
|
Peters-plus syndrome
|
(Orphanet:709)
|
Phosphoenolpyruvate carboxykinase 1 deficiency
|
(Orphanet:79316)
|
Pontocerebellar hypoplasia type 3
|
(Orphanet:97249)
|
Pontocerebellar hypoplasia type 6
|
(Orphanet:166073)
|
Pontocerebellar hypoplasia type 7
|
(Orphanet:284339)
|
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
|
(Orphanet:276432)
|
Progressive epilepsy-intellectual deficit, Finnish type
|
(Orphanet:1947)
|
Progressive myoclonic epilepsy type 3
|
(Orphanet:263516)
|
Propionic acidemia
|
(Orphanet:35)
|
Pyruvate dehydrogenase E1-alpha deficiency
|
(Orphanet:79243)
|
Recombinant 8 syndrome
|
(Orphanet:96167)
|
Renal tubulopathy - encephalopathy - liver failure
|
(Orphanet:254902)
|
Renpenning syndrome
|
(Orphanet:3242)
|
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
|
(Orphanet:3085)
|
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY
|
(OMIM:616084)
|
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
|
(OMIM:602613)
|
SLC35A2-CDG
|
(Orphanet:356961)
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
|
(Orphanet:369939)
|
Steinert myotonic dystrophy
|
(Orphanet:273)
|
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
|
(Orphanet:308386)
|
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
|
(Orphanet:308393)
|
VERHEIJ SYNDROME
|
(OMIM:615583)
|
WARBURG MICRO SYNDROME 1
|
(OMIM:600118)
|
Wolfram syndrome 1
|
(OMIM:222300)
|
Zunich-Kaye syndrome
|
(Orphanet:3474)
|