Features include always present findings: Poor head control, Inability to walk, Hypoplasia of the brainstem, and Low muscle tone (hypotonia) and others; and common findings: Autistic behavior and Bilateral talipes equinovarus. 20 total HPO annotations.

MFSD2A encodes MFSD2 lysolipid transporter A, lysophospholipid (543 aa). Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function. Highest expression in Skin Not Sun Exposed Suprapubic (125.2 TPM) and Skin Sun Exposed Lower leg (86.5 TPM).

Microcephaly 15, primary, autosomal recessive is associated with mutations in the MFSD2A gene on chromosome 1.

The MFSD2A protein participates in MFSD2A transports LPC from extracellular region to plasma membrane and SPNS2,MFSD2B transport S1P from cytosol to extracellular region pathways.

MFSD2A is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 0.0.

Genetic testing for MFSD2A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 12 always present features, 2 common features.

No clinical trials have been registered for microcephaly 15, primary, autosomal recessive.

14 publications have been identified in PubMed for microcephaly 15, primary, autosomal recessive. Research spans Case Report / Case Series (54%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (15%).