Features include always present findings: Exaggerated startle response, Cessation of head growth, Coarse facial features, and Abnormal cortical gyration and others; and very common findings: Small joint hypermobilty, Low muscle tone (hypotonia), Thin corpus callosum, and Hypoplasia of the corpus callosum and others. 64 total HPO annotations.

PLAA function has not been fully characterized.

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies is associated with mutations in the PLAA gene on chromosome 9.

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

Phenotype severity distribution: 25 always present features, 6 very common features, 12 common features.

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

No clinical trials have been registered for neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.

8 publications have been identified in PubMed for neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Review / Meta-Analysis (25%).

Recent Publications

• Mencacci NE (2026). [PMID: 42012897](https://pubmed.ncbi.nlm.nih.gov/42012897/). *J Clin Invest*. [Basic Science / Preclinical]

• Idkaidak S (2025). [PMID: 40110277](https://pubmed.ncbi.nlm.nih.gov/40110277/). *Annals of medicine and surgery (2012)*. [Case Report / Case Series]

• German HM (2025). [PMID: 41001736](https://pubmed.ncbi.nlm.nih.gov/41001736/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Case Report / Case Series]

• Das A (2025). [PMID: 40560612](https://pubmed.ncbi.nlm.nih.gov/40560612/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]