15q24 microdeletion syndrome
|
(Orphanet:94065)
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17p11.2 microduplication syndrome
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(Orphanet:1713)
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2p15p16.1 microdeletion syndrome
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(Orphanet:261349)
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2q23.1 microdeletion syndrome
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(Orphanet:228402)
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2q37 microdeletion syndrome
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(Orphanet:1001)
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5q14.3 microdeletion syndrome
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(Orphanet:228384)
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Adenylosuccinate lyase deficiency
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(Orphanet:46)
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Adrenomyeloneuropathy
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(Orphanet:139399)
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CHARGE syndrome
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(Orphanet:138)
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CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME
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(OMIM:613603)
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Christianson syndrome
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(Orphanet:85278)
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D-glyceric aciduria
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(Orphanet:941)
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Developmental delay with autism spectrum disorder and gait instability
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(Orphanet:329195)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
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(OMIM:300672)
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Epileptic encephalopathy with continuous spike-and-wave during sleep
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(Orphanet:725)
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FRAXE intellectual deficit
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(Orphanet:100973)
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Female restricted epilepsy with intellectual deficit
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(Orphanet:101039)
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Fragile X syndrome
|
(Orphanet:908)
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Hyperprolinemia type 1
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(Orphanet:419)
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Intellectual deficit, X-linked, Cantagrel type
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(Orphanet:85277)
|
LUBS X-LINKED MENTAL RETARDATION SYNDROME
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(OMIM:300260)
|
Landau-Kleffner syndrome
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(Orphanet:98818)
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Lissencephaly due to LIS1 mutation
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(Orphanet:95232)
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MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES
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(OMIM:613670)
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
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(OMIM:614563)
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
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(OMIM:611091)
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MENTAL RETARDATION, X-LINKED 21
|
(OMIM:300143)
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MENTAL RETARDATION, X-LINKED 72
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(OMIM:300271)
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MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
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(OMIM:300676)
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Maternal hyperphenylalaninemia
|
(Orphanet:2209)
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Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
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(Orphanet:329332)
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Monosomy 22q13
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(Orphanet:48652)
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NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
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(OMIM:610217)
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Phenylketonuria
|
(Orphanet:716)
|
Pitt-Hopkins-like syndrome 2
|
(OMIM:614325)
|
Renpenning syndrome
|
(Orphanet:3242)
|
SCHAAF-YANG SYNDROME
|
(OMIM:615547)
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Syndromic X-linked intellectual deficit due to JARID1C mutation
|
(Orphanet:85279)
|
Temtamy syndrome
|
(Orphanet:1777)
|
VELOCARDIOFACIAL SYNDROME
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(OMIM:192430)
|
Wiedemann-Steiner syndrome
|
(Orphanet:319182)
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X-linked cerebral adrenoleukodystrophy
|
(Orphanet:139396)
|
X-linked intellectual deficit - cerebellar hypoplasia
|
(Orphanet:137831)
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