Features include always present findings: Short stature, Low muscle tone (hypotonia), Motor delay, and Severe global developmental delay; and very common findings: Narrow mouth, Micropenis, Exocrine pancreatic insufficiency, and Decreased hemoglobin concentration and others. 62 total HPO annotations.

MADD encodes MAP kinase activating death domain (1,647 aa). Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family. Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms. Highest expression in Brain Cerebellum (173.2 TPM) and Brain Cerebellar Hemisphere (169.2 TPM).

Deeah syndrome is associated with mutations in the MADD gene on chromosome 11.

The MADD protein participates in MADD exchanges GTP for GDP on RAB27, SLC52A1,2,3 transport RIB from extracellular region to cytosol, and RAB3 GEFs exchange GTP for GDP on RAB3A pathways.

MADD is classified as a druggable target (Kinase and Tumor Suppressor categories) with score 0.0.

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

Biomarker and diagnostic research for deeah syndrome has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 7 very common features, 16 common features.

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

No clinical trials have been registered for deeah syndrome.

209 publications have been identified in PubMed for deeah syndrome. Research spans Review / Meta-Analysis (54%), Basic Science / Preclinical (15%), and Case Report / Case Series (14%).