Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 (MPPH1)

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1(来自ICD-11)

别称:

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome

Mpph

Meg-Pmg-Megacc Syndrome

Mpph Syndrome

Mpph1

Megalencephaly, Mega Corpus Callosum, and Complete Lack of Motor Development

Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome

Megalencephaly Mega Corpus Callosum and Complete Lack of Motor Development

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 1

Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome

Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome

Megalencephaly-Polymicrogyria-Mega Corpus Callosum Syndrome

Meg-Pmg-Poly-Hyd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1, also known as megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, is related to megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, and has symptoms including seizures An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 is PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2). Affiliated tissues include brain and tongue, and related phenotypes are hydrocephalus and ventriculomegaly

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