Features include always present findings: Delayed speech and language development and Global developmental delay; and very common findings: Motor delay. 27 total HPO annotations.

BPTF encodes bromodomain PHD finger transcription factor (3,046 aa). Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Highest expression in Brain Cerebellum (36.6 TPM) and Brain Cerebellar Hemisphere (35.0 TPM).

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies is associated with mutations in the BPTF gene on chromosome 17.

BPTF is classified as a druggable target (Transcription Factor category) with score 0.0.

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

Phenotype severity distribution: 2 always present features, 1 very common feature, 8 common features.

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

No clinical trials have been registered for neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

4 publications have been identified in PubMed for neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

• Ünsel-Bolat G (2025). [PMID: 40415676](https://pubmed.ncbi.nlm.nih.gov/40415676/). *Dev Neurobiol*. [Case Report / Case Series]

• Ferretti A (2025). [PMID: 40614698](https://pubmed.ncbi.nlm.nih.gov/40614698/). *Pediatr Neurol*. [Case Report / Case Series]

• Horsthemke B (2024). [PMID: 38854642](https://pubmed.ncbi.nlm.nih.gov/38854642/). *Med Genet*. [Review / Meta-Analysis]

• Ferretti A (2024). [PMID: 38936258](https://pubmed.ncbi.nlm.nih.gov/38936258/). *Pediatr Neurol*. [Case Report / Case Series]