Intellectual disability, X-linked, MICPCH syndrome is one of several diseases associated with defects in the human CASK gene; this disease exhibits X-linked dominant inheritance. Severe mutations and deletions of CASK are typically implicated in this disease. See the human disease model report for 'intellectual disability, X-linked, CASK-related' (FBhh0000867) for information on experimental results using Drosophila models of this and related diseases.
[updated Aug. 2018 by FlyBase; FBrf0222196]
Intellectual disability is characterized by impairments in intellectual functioning and adaptive behavior; symptoms must be present before a child becomes 18 years old (http://medical-dictionary.thefreedictionary.com/mental+retardation; 2016.01.19).
Intellectual disability can be subdivided into syndromic forms, characterized by cognitive impairment accompanied by dysmorphic features, malformations or neurological abnormalities, and nonsyndromic forms, characterized by cognitive impairment without additional features (Basel-Vanagaite, 2008; DOI: 10.1002/9780470015902.a0021454).
[INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH](https://omim.org/entry/300749)
[CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK](https://omim.org/entry/300172)
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, axial hypotonia with or without hypertonia, and distinctive facial dysmorphism (summary by Moog et al., 2011; pubmed:21954287). [from MIM:300749; 2018.08.14]
MICPCH syndrome is caused by heterozygous mutation or deletion in the CASK gene, typically resulting in complete loss of function. [from MIM:300749 and MIM:300422; 2018.08.14]
The CASK gene encodes a calcium/calmodulin-dependent serine protein kinase that is a member of the membrane-associated guanylate kinase (MAGUK) protein family. MAGUKs are scaffolding proteins associated with intercellular junctions (summary by Atasoy et al., 2007; pubmed:17287346) [from MIM:300172; 2018.08.14]
