Features include always present findings: Feeding difficulties, Global developmental delay, Clinodactyly of the 5th finger, and Brachydactyly and others; and common findings: Short foot, Strabismus, Seizure, and Short palpebral fissure and others. 47 total HPO annotations.

HNRNPR encodes heterogeneous nuclear ribonucleoprotein R (633 aa). Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP).

Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities is associated with mutations in the HNRNPR gene on chromosome 1.

HNRNPR is classified as a druggable target with score 0.0.

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

Phenotype severity distribution: 5 always present features, 27 common features.

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

No clinical trials have been registered for neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities.

6 publications have been identified in PubMed for neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

• Peter B (2026). [PMID: 40891523](https://pubmed.ncbi.nlm.nih.gov/40891523/). *Am J Med Genet A*. [Case Report / Case Series]

• Abdel-Hamid MS (2026). [PMID: 41571908](https://pubmed.ncbi.nlm.nih.gov/41571908/). *J Hum Genet*. [Case Report / Case Series]

• Liu H (2025). [PMID: 39847329](https://pubmed.ncbi.nlm.nih.gov/39847329/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

• Jee YH (2025). [PMID: 40129681](https://pubmed.ncbi.nlm.nih.gov/40129681/). *Genet Med Open*. [Case Report / Case Series]

• Politano D (2024). [PMID: 38326731](https://pubmed.ncbi.nlm.nih.gov/38326731/). *Am J Med Genet A*. [Review / Meta-Analysis]