Disease #04139 (MPPH2 (megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 2 (MPPH-2)), OMIM:615937)

Official abbreviation MPPH2
Name megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 2 (MPPH-2)
OMIM ID 615937
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene AKT3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00056045 - PubMed: Riviere 2012, Journal: Riviere 2012 - F - - - >02y05m - - - MPPH2 2y5m OFC +6; no overgrowth (-HP:0001548), no asymmetry, no vascular malformations, no polydactyly (-HP:0010442), no syndactyly (-HP:0001159), connective tissue dysplasia (skin laxity, joint hypermobility, thick doughy subcutaneous tissue), hydrocephalus (HP:0000238), ventriculomegaly (HP:0002119), no cerebellar tonsillar ectopia, polymicrogyria (HP:0002126) AKT3 AKT3 1 1 Johan den Dunnen
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