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neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

MONDO:0859141

Overview

GeneticsAutosomal recessive · EXOC2 (chr 6)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Bitemporal hollowing, Sloping forehead, Upslanted palpebral fissure, and Long philtrum and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Hypoplasia of the brainstem, Seizure, Depressed nasal tip

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EXOC2 encodes exocyst complex component 2 (924 aa). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane Highest expression in Testis (26.9 TPM) and Nerve Tibial (22.5 TPM).

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia is associated with mutations in the EXOC2 gene on chromosome 6.

The EXOC2 protein participates in Insulin secretory granule docks at the plasma membrane pathway.

EXOC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for EXOC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 34 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia.

3 publications have been identified in PubMed for neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Sure A (2025). [PMID: 40711401](https://pubmed.ncbi.nlm.nih.gov/40711401/). *Ophthalmic Surg Lasers Imaging Retina*. [Case Report / Case Series]
Upadhyai P (2025). [PMID: 40395934](https://pubmed.ncbi.nlm.nih.gov/40395934/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Chai Y (2024). [PMID: 39344623](https://pubmed.ncbi.nlm.nih.gov/39344623/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619306

GARD

Genetic and Rare Diseases Info Center

GARD:18545

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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