Features include always present findings: Sparse hair; and very common findings: Nevus flammeus of the forehead, Inability to walk, and Severe global developmental delay. 77 total HPO annotations.

MED25 encodes mediator complex subunit 25 (747 aa). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Highest expression in Testis (183.1 TPM) and Adrenal Gland (101.3 TPM).

Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome is associated with mutations in the MED25 gene on chromosome 19.

MED25 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 0.0.

Genetic testing for MED25 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 3 very common features, 24 common features.

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

No clinical trials have been registered for congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome.

129 publications have been identified in PubMed for congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (6%).