mental retardation, X-linked CASK-related (MRXCASK, includes MICPCH syndrome)

Introduction

MICPCH syndrome is severe form

Pathology

• congenital or postnatal microcephaly (MICPCH syndrome)
• disproportionate brainstem & cerebellar hypoplasia

Genetics

• associated with defects in CASK

Clinical manifestations

• variable
• severe phenotype consisting of severe intellectual deficit (MICPCH syndrome)
• milder phenotype consists of mental retardation alone or associated with nystagmus

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/300749