Features include: Cerebellar vermis hypoplasia, Narrow forehead, Strabismus, and Thick eyebrow and 18 more.

FRMD4A encodes FERM domain containing 4A (1,039 aa). Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4B in epithelial polarization. Highest expression in Artery Tibial (19.8 TPM) and Adipose Subcutaneous (19.7 TPM).

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome is associated with mutations in the FRMD4A gene on chromosome 10.

The FRMD4A protein participates in Keratinocyte stem cell differentiates into transit amplifying cell in the basal layer of interfollicular epidermis pathway.

FRMD4A is classified as a druggable target with score 0.0.

Genetic testing for FRMD4A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome.

120 publications have been identified in PubMed for severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (15%), and Case Report / Case Series (6%).