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microcephaly 29, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 29, primary, autosomal recessive

MONDO:0031060

Also known as:MCPH29

Overview

GeneticsAutosomal recessive · PDCD6IP (chr 3)

OnsetCONGENITAL

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: Strabismus, Thick eyebrow, Seizure, and Deeply set eye and others; and common findings: Hypoplastic philtrum, Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, and High forehead and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Global developmental delay, Ataxia

Genetic Landscape

PDCD6IP function has not been fully characterized.

Microcephaly 29, primary, autosomal recessive is associated with mutations in the PDCD6IP gene on chromosome 3.

Diagnosis

Genetic testing for PDCD6IP is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 7 common features.

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620047

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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microcephaly 29, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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