Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy (MCPHSBA)

Alias:
Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive Microcephaly
Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive Microcephal
Postnatal Progressive Microcephaly, Seizures, and Brain Atrophy
Mcphsba
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy, is also known as infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly. An important gene associated with Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy is MED17 (Mediator Complex Subunit 17). Affiliated tissues include brain, and related phenotypes are seizure and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
4
1

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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