Lissencephaly
Symptom Information:
Symptom ID: | HPO:0001339 | |||||||||||||||
Synonyms: |
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Is a (Whole tree): |
HPO:
MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Neurological disorders congenital(MedDRA:10029299) Cerebral disorders congenital(MedDRA:10052634) Lissencephaly(HPO:0001339) |
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Database Frequency: | 30 / 7739 | |||||||||||||||
Resource: |
All diseases associated with this symptom:
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
Baraitser-Winter syndrome | (Orphanet:2995) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | (OMIM:615411) |
Cobblestone lissencephaly without muscular or ocular involvement | (Orphanet:352682) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Craniotelencephalic dysplasia | (Orphanet:1528) |
LISSENCEPHALY 6 WITH MICROCEPHALY | (OMIM:616212) |
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA | (OMIM:616342) |
Leprechaunism | (Orphanet:508) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Lissencephaly due to LIS1 mutation | (Orphanet:95232) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
MELAS | (Orphanet:550) |
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS | (OMIM:604317) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
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) |
Microlissencephaly | (Orphanet:1083) |
Miller-Dieker syndrome | (Orphanet:531) |
Neu-Laxova syndrome | (Orphanet:2671) |
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | (OMIM:614883) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |