Features include always present findings: Intellectual disability, Delayed speech and language development, Global developmental delay, and Delayed gross motor development; and common findings: Strabismus, Seizure, Ataxia, and Aggressive behavior and others. 29 total HPO annotations.

FRMPD4 encodes FERM and PDZ domain containing 4 (1,322 aa). Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate Highest expression in Brain Frontal Cortex BA9 (10.9 TPM) and Brain Cortex (7.8 TPM).

Intellectual disability, X-linked 104 is associated with mutations in the FRMPD4 gene on chromosome X.

FRMPD4 is classified as a druggable target with score 0.0.

Genetic testing for FRMPD4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 104 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 11 common features.

No clinical trials have been registered for intellectual disability, X-linked 104.

15 publications have been identified in PubMed for intellectual disability, X-linked 104. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (20%).