Features include always present findings: Talipes valgus, Open bite, Low muscle tone (hypotonia), and Gastroesophageal reflux and others; and very common findings: Short stature. 58 total HPO annotations.

HNRNPH1 encodes heterogeneous nuclear ribonucleoprotein H1 (449 aa). This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm.

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects is associated with mutations in the HNRNPH1 gene on chromosome 5.

The HNRNPH1 protein participates in FGFR2 alternative splicing pathway.

HNRNPH1 is classified as a druggable target with score 26.1.

Genetic testing for HNRNPH1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 37 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 craniofacial dysmorphism and skeletal defects.

31 publications have been identified in PubMed for neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (13%).