Bilateral frontoparietal polymicrogyria
|
(Orphanet:101070)
|
Bohring-Opitz syndrome
|
(Orphanet:97297)
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
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(OMIM:615763)
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CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
|
(OMIM:615771)
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Cobblestone lissencephaly without muscular or ocular involvement
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(Orphanet:352682)
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Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
|
(Orphanet:1369)
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Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
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(Orphanet:300570)
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Dysequilibrium syndrome
|
(Orphanet:1766)
|
Fowler syndrome
|
(Orphanet:221126)
|
Freeman-Sheldon syndrome
|
(Orphanet:2053)
|
Fumaric aciduria
|
(Orphanet:24)
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Galloway-Mowat syndrome
|
(Orphanet:2065)
|
Goldberg-Shprintzen megacolon syndrome
|
(Orphanet:66629)
|
Joubert syndrome
|
(Orphanet:475)
|
Joubert syndrome 1
|
(OMIM:213300)
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Joubert syndrome 2
|
(OMIM:608091)
|
Joubert syndrome 21
|
(OMIM:615636)
|
Joubert syndrome with oculorenal defect
|
(Orphanet:2318)
|
Lissencephaly due to LIS1 mutation
|
(Orphanet:95232)
|
Lissencephaly due to TUBA1A mutation
|
(Orphanet:171680)
|
Lissencephaly type 3 - metacarpal bone dysplasia
|
(Orphanet:86822)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
|
(OMIM:614563)
|
MICROHYDRANENCEPHALY
|
(OMIM:605013)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1
|
(OMIM:236670)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12
|
(OMIM:615249)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13
|
(OMIM:615287)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2
|
(OMIM:613150)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3
|
(OMIM:253280)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4
|
(OMIM:253800)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5
|
(OMIM:613153)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7
|
(OMIM:614643)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6
|
(OMIM:608840)
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
Moebius syndrome
|
(Orphanet:570)
|
Muscle-eye-brain disease
|
(Orphanet:588)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
|
(OMIM:612389)
|
Polymicrogyria with optic nerve hypoplasia
|
(Orphanet:250972)
|
Pontocerebellar hypoplasia type 3
|
(Orphanet:97249)
|
Pontocerebellar hypoplasia type 4
|
(Orphanet:166063)
|
Pontocerebellar hypoplasia type 8
|
(Orphanet:324569)
|
Wolfram syndrome 1
|
(OMIM:222300)
|