Disease #00844 (MPPH-1 (megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1)), OMIM:603387)

Official abbreviation MPPH-1
Name megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1)
OMIM ID 603387
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PIK3R2
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00034521 - - - M no Italy - - 0 yes - MPPH-1 MPPH syndrome PIK3R2 PIK3R2 1 1 Norine Voisin
00056046 - PubMed: Riviere 2012, Journal: Riviere 2012 2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues) M no - European >16y 0 - - MPPH-1 mild developmental delay particularly involving speech, later diagnosed with Asperger syndrome; 18m-third ventriculostomy for progressive ventriculomegaly (HP:0002119), no seizures; 12.5y MRI-brain striking megalencephaly (HP:0001355), bilateral perisylvian polymicrogyria (HP:0002126), borderline cerebellar tonsillar ectopia, moderately thick corpus callosum, no vascular malformations, no digital anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159)) MUC4, PIK3R2, RREB1, UNC80, ZNF717 MUC4, PIK3R2, RREB1, UNC80, ZNF717 8 3 Johan den Dunnen
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