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

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
1
7
49

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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