Lissencephaly

Symptom Information:

Symptom ID: HPO:0001339
Synonyms:
Agyria [HPO:0001339]
Agyria [Orphanet:42600]
Lissencephaly (disorder) [Orphanet:42600]
Agyria (disorder) [Orphanet:42600]
Lissencephaly [Orphanet:42600]
Agyria [OMIM:Agyria]
Lissencephaly [OMIM:Lissencephaly]
Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect [Orphanet:42600]
Lissencephaly [MedDRA:10048911]
Agyria [MedDRA:10048911]
Agyria (WWS) [OMIM:Agyria (WWS)]
Agyria (posterior-to-anterior gradient) [OMIM:Agyria (posterior-to-anterior gradient)]
Lissencephaly (anterior to posterior decreasing gradient of severity, more prominent in anterior brain regions) [OMIM:Lissencephaly (anterior to posterior decreasing gradient of severity, more prominent in anterior brain regions)]
Lissencephaly (anterior to posterior increasing gradient of severity and more prominent in posterior brain regions) [OMIM:Lissencephaly (anterior to posterior increasing gradient of severity and more prominent in posterior brain regions)]
Lissencephaly (reported in 1 patient) [OMIM:Lissencephaly (reported in 1 patient)]
Quality:
Cross references:
Orphanet:42600 "Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect" [Orphanet:42600]
OMIM: "Agyria" [OMIM:Agyria]
OMIM: "Lissencephaly" [OMIM:Lissencephaly]
OMIM: "Agyria (WWS)" [OMIM:Agyria (WWS)]
OMIM: "Agyria (posterior-to-anterior gradient)" [OMIM:Agyria (posterior-to-anterior gradient)]
OMIM: "Lissencephaly (anterior to posterior decreasing gradient of severity, more prominent in anterior brain regions)" [OMIM:Lissencephaly (anterior to posterior decreasing gradient of severity, more prominent in anterior brain regions)]
OMIM: "Lissencephaly (anterior to posterior increasing gradient of severity and more prominent in posterior brain regions)" [OMIM:Lissencephaly (anterior to posterior increasing gradient of severity and more prominent in posterior brain regions)]
OMIM: "Lissencephaly (reported in 1 patient)" [OMIM:Lissencephaly (reported in 1 patient)]
UMLS:C0266463 "Lissencephaly" [HPO:0001339]
UMLS:C0266463 "Lissencephaly" [Orphanet:42600]
UMLS:C1879312 "Agyria" [Orphanet:42600]
Is a (Direct Parents):
Orphanet Structural anomalies of the nervous system
HPO         Type III lissencephaly
Orphanet Pachygyria
HPO         Abnormal cortical gyration
MedDRA Cerebral disorders congenital
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)
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)