Microcephaly

Gene: CASK

Green List (high evidence)

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

• 21954287
• 19165920
• 21735175