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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
rareAny megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.
- Identifiers
- MONDO:0011313 OMIM:603387
- Causal genes
- PIK3R2
- Part of
- PIK3R2-related overgrowth spectrumMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Also known as
- megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1 · megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2 · MPPH1 · PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
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