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megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


GARD Rare
Mondo Description Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
Mondo Term and Equivalent IDs
MONDO:0019375:  megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
DC:0000669: 
GARD:0010341: 
OMIMPS:603387: 
Orphanet:83473: 
SCTID:722036008: