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  2. MICPCH syndrome

MICPCH syndrome

Definition:

Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly, and pontine and cerebellar hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN.

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