Microcephaly
Gene: CASK
XLD. 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, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism. Over 20 unrelated individuals reported.Created: 4 Sep 2020, 11:04 a.m. | Last Modified: 4 Sep 2020, 11:04 a.m.
Panel Version: 0.476
Mode of inheritance
Other
Phenotypes
Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Publications
Gene: cask has been classified as Green List (High Evidence).
Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Publications for gene: CASK were set to
Mode of inheritance for gene: CASK was changed from Unknown to Other
gene: CASK was added gene: CASK was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CASK was set to Unknown