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microcephaly 19, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 19, primary, autosomal recessive

MONDO:0054716

Also known as:MCPH19primary autosomal recessive microcephaly 19

Overview

GeneticsAutosomal recessive · COPB2 (chr 3)

ResearchLimited published research (2 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: Decreased body weight, Microcephaly, Failure to thrive in infancy, and Delayed CNS myelination and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Severe global developmental delay, Extra-axial cerebrospinal fluid accumulation, Cerebral visual impairment

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.

COPB2 encodes coat protein complex I subunit beta 2 (906 aa). The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Highest expression in Cells Cultured fibroblasts (216.1 TPM) and Cells EBV-transformed lymphocytes (113.2 TPM).

Microcephaly 19, primary, autosomal recessive is associated with mutations in the COPB2 gene on chromosome 3.

COPB2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for COPB2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present 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 microcephaly 19, primary, autosomal recessive.

2 publications have been identified in PubMed for microcephaly 19, primary, autosomal recessive. Research spans Basic Science / Preclinical (100%).

Recent Publications

Maeda M (2025). [PMID: 40047103](https://pubmed.ncbi.nlm.nih.gov/40047103/). *Traffic (Copenhagen, Denmark)*. [Basic Science / Preclinical]
Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617800

GARD

Genetic and Rare Diseases Info Center

GARD:16253

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 19, primary, autosomal recessive

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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