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microcephalic primordial dwarfism due to ZNF335 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephalic primordial dwarfism due to ZNF335 deficiency

MONDO:0014043

Also known as:microcephalic primordial dwarfism, Walsh typeMCPH10microcephaly 10, primary, autosomal recessive

Overview

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

GeneticsAutosomal recessive · ZNF335 (chr 20)

OnsetCONGENITAL

ResearchLimited published research (4 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 always present findings: Severe global developmental delay and Primary microcephaly; and very common findings: Simplified gyral pattern, Microcephaly, Abnormal cerebellum morphology, and Abnormal cerebral morphology and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Brain shrinkage (cerebral atrophy), Scarring in the brain (gliosis), Severe global developmental delay

Genetic Landscape

ZNF335 function has not been fully characterized.

Microcephalic primordial dwarfism due to ZNF335 deficiency is associated with mutations in the ZNF335 gene on chromosome 20.

Diagnosis

Genetic testing for ZNF335 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 9 very common features.

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

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 microcephalic primordial dwarfism due to ZNF335 deficiency.

4 publications have been identified in PubMed for microcephalic primordial dwarfism due to ZNF335 deficiency. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Jiang Q (2026). [PMID: 41970958](https://pubmed.ncbi.nlm.nih.gov/41970958/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Yeter B (2025). [PMID: 41153337](https://pubmed.ncbi.nlm.nih.gov/41153337/). *Genes (Basel)*. [Basic Science / Preclinical]
Wang J (2024). [PMID: 39344621](https://pubmed.ncbi.nlm.nih.gov/39344621/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Luo S (2024). [PMID: 38818167](https://pubmed.ncbi.nlm.nih.gov/38818167/). *Heliyon*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615095

Orphanet

European rare disease database

Orphanet:329228

GARD

Genetic and Rare Diseases Info Center

GARD:17498

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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microcephalic primordial dwarfism due to ZNF335 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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