Features include always present findings: Poor head control, Hypoplasia of the brainstem, Agenesis of corpus callosum, and Cutis gyrata of scalp and others. 29 total HPO annotations.

NDE1 encodes nudE neurodevelopment protein 1 (335 aa). Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex.

NDE1-related microhydranencephaly is associated with mutations in the NDE1 gene on chromosome 16.

NDE1 is classified as a druggable target with score 0.0.

Genetic testing for NDE1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for NDE1-related microhydranencephaly has been reported in the published literature.

Phenotype severity distribution: 15 always present features.

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

No clinical trials have been registered for NDE1-related microhydranencephaly.

2 publications have been identified in PubMed for NDE1-related microhydranencephaly. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).

Recent Publications

• Xiong GJ (2024). [PMID: 38568173](https://pubmed.ncbi.nlm.nih.gov/38568173/). *J Cell Biol*. [Review / Meta-Analysis]

• Zhao Y (2024). [PMID: 39473442](https://pubmed.ncbi.nlm.nih.gov/39473442/). *Front Genet*. [Diagnostic / Biomarker]