17p11.2 microduplication syndrome
|
(Orphanet:1713)
|
AICARDI-GOUTIERES SYNDROME 3
|
(OMIM:610329)
|
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES
|
(OMIM:300887)
|
ASPARAGINE SYNTHETASE
|
(OMIM:108370)
|
ASPARAGINE SYNTHETASE DEFICIENCY
|
(OMIM:615574)
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
Aicardi syndrome
|
(Orphanet:50)
|
Allan-Herndon-Dudley syndrome
|
(Orphanet:59)
|
Alpers syndrome
|
(Orphanet:726)
|
Bohring-Opitz syndrome
|
(Orphanet:97297)
|
CEREBROOCULOFACIOSKELETAL SYNDROME 1
|
(OMIM:214150)
|
COFS syndrome
|
(Orphanet:1466)
|
CONGENITAL DISORDER OF DEGLYCOSYLATION
|
(OMIM:615273)
|
Congenital ichthyosis - intellectual deficit - spastic quadriplegia
|
(Orphanet:352333)
|
Constitutional megaloblastic anemia with severe neurologic disease
|
(Orphanet:319651)
|
D,L-2-hydroxyglutaric aciduria
|
(Orphanet:356978)
|
D-2-@HYDROXYGLUTARIC ACIDURIA 1
|
(OMIM:600721)
|
D-glyceric aciduria
|
(Orphanet:941)
|
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY
|
(OMIM:614520)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
|
(OMIM:615473)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
(OMIM:616211)
|
Early myoclonic encephalopathy
|
(Orphanet:1935)
|
Glutaryl-CoA dehydrogenase deficiency
|
(Orphanet:25)
|
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
Hypotonia with lactic acidemia and hyperammonemia
|
(Orphanet:137908)
|
Intellectual disability-developmental delay-contractures syndrome
|
(Orphanet:3454)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
|
(OMIM:616158)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
|
(OMIM:615599)
|
Microcephalic primordial dwarfism due to ZNF335 deficiency
|
(Orphanet:329228)
|
Microcephaly-capillary malformation syndrome
|
(Orphanet:294016)
|
Microphthalmia with linear skin defects syndrome
|
(Orphanet:2556)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
|
(Orphanet:369897)
|
Monosomy 18q
|
(Orphanet:1600)
|
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
|
(Orphanet:300496)
|
Neurological conditions associated with aminoacylase 1 deficiency
|
(Orphanet:137754)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 10
|
(OMIM:615803)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
|
(OMIM:613811)
|
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
|
(Orphanet:65288)
|
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
|
(Orphanet:306558)
|
Progressive myoclonic epilepsy with dystonia
|
(Orphanet:352596)
|
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
(Orphanet:88618)
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
(Orphanet:255182)
|
RETT SYNDROME, CONGENITAL VARIANT
|
(OMIM:613454)
|
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
|
(OMIM:614498)
|
Recombinant 8 syndrome
|
(Orphanet:96167)
|
SLC35A2-CDG
|
(Orphanet:356961)
|
Spondyloepimetaphyseal dysplasia, Bieganski type
|
(Orphanet:168448)
|
Thrombocytopenia - absent radius
|
(Orphanet:3320)
|
WEBB-DATTANI SYNDROME
|
(OMIM:615926)
|
X-linked creatine transporter deficiency
|
(Orphanet:52503)
|
XIA-GIBBS SYNDROME
|
(OMIM:615829)
|