Features include always present findings: Intellectual disability; and very common findings: Delayed speech and language development. 59 total HPO annotations.

ZMIZ1 function has not been fully characterized.

Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies is associated with mutations in the ZMIZ1 gene on chromosome 10.

Genetic testing for ZMIZ1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 common features.

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

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

Recent Publications

• Rogan S (2026). [PMID: 41039966](https://pubmed.ncbi.nlm.nih.gov/41039966/). *Am J Med Genet A*. [Case Report / Case Series]

• Zou J (2026). [PMID: 41918386](https://pubmed.ncbi.nlm.nih.gov/41918386/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

• De Rosa A (2026). [PMID: 41981097](https://pubmed.ncbi.nlm.nih.gov/41981097/). *Pediatr Res*. [Basic Science / Preclinical]

• Wan L (2025). [PMID: 40044118](https://pubmed.ncbi.nlm.nih.gov/40044118/). *Hum Mol Genet*. [Case Report / Case Series]

• Li S (2025). [PMID: 41354990](https://pubmed.ncbi.nlm.nih.gov/41354990/). *Pediatr Res*. [Basic Science / Preclinical]