Features include always present findings: Microcephaly, Global developmental delay, and Spasticity; and common findings: Difficulty swallowing (dysphagia), Delayed speech and language development, and Abnormal pyramidal sign. 17 total HPO annotations.

ADD3 encodes adducin 3 (706 aa). Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping. Binds to calmodulin (Probable). Highest expression in Nerve Tibial (184.5 TPM) and Thyroid (89.2 TPM).

Cerebral palsy, spastic quadriplegic, 3 is associated with mutations in the ADD3 gene on chromosome 10.

ADD3 is classified as a druggable target (Kinase category) with score 2.6.

4 pathogenic variants reported in ADD3 in ClinVar, including hotspot variant NP_001112.2:p.Gly367Asp (2-star review).

Genetic testing for ADD3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cerebral palsy, spastic quadriplegic, 3 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 3 common features.

No clinical trials have been registered for cerebral palsy, spastic quadriplegic, 3.

15 publications have been identified in PubMed for cerebral palsy, spastic quadriplegic, 3. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (20%), and Clinical Trial Publication (13%).