Macrogyria

Symptom Information:

Symptom ID: HPO:0007227
Synonyms:
Macrogyria (disorder) [Orphanet:42600]
Macrogyria [OMIM:Macrogyria]
Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect [Orphanet:42600]
Pachygyria [Orphanet:42600]
Pachygyria [MedDRA:10048910]
Macrogyria [MedDRA:10048910]
Pachygyria (1 patient) [OMIM:Pachygyria (1 patient)]
Pachygyria (less common) [OMIM:Pachygyria (less common)]
Pachygyria (posterior-to-anterior gradient) [OMIM:Pachygyria (posterior-to-anterior gradient)]
Pachygyria (rare) [OMIM:Pachygyria (rare)]
Quality:
Cross references:
Orphanet:42600 "Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect" [Orphanet:42600]
OMIM: "Macrogyria" [OMIM:Macrogyria]
OMIM: "Pachygyria (1 patient)" [OMIM:Pachygyria (1 patient)]
OMIM: "Pachygyria (less common)" [OMIM:Pachygyria (less common)]
OMIM: "Pachygyria (posterior-to-anterior gradient)" [OMIM:Pachygyria (posterior-to-anterior gradient)]
OMIM: "Pachygyria (rare)" [OMIM:Pachygyria (rare)]
Is a (Direct Parents):
HPO         Abnormal cortical gyration
Orphanet Structural anomalies of the nervous system
MedDRA Cerebral disorders congenital
Orphanet Pachygyria
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebral disorders congenital(MedDRA:10052634)
          Macrogyria(HPO:0007227)
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

Kapur-Toriello syndrome (Orphanet:2328)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
MELAS (Orphanet:550)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Malonic aciduria (Orphanet:943)
Marshall-Smith syndrome (Orphanet:561)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked intellectual deficit, Najm type (Orphanet:163937)