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infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

MONDO:0013351

Also known as:microcephaly, postnatal progressive, with seizures and brain atrophypostnatal progressive microcephaly, seizures, and brain atrophy

Overview

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.

GeneticsAutosomal recessive · MED17 (chr 11)

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 always present findings: Hypertonia, Clonus, Difficulty swallowing (dysphagia), and Hypsarrhythmia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Clonus, Difficulty swallowing (dysphagia), Hypoplasia of the brainstem

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.

MED17 encodes mediator complex subunit 17 (651 aa). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Highest expression in Ovary (16.3 TPM) and Cervix Endocervix (14.8 TPM).

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is associated with mutations in the MED17 gene on chromosome 11.

MED17 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 0.0.

Diagnosis

Genetic testing for MED17 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 always present 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 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly.

3 publications have been identified in PubMed for infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Micale L (2026). [PMID: 42202558](https://pubmed.ncbi.nlm.nih.gov/42202558/). *Mol Genet Metab*. [Gene Therapy / Novel Therapeutics]
Aughey GN (2025). [PMID: 39692517](https://pubmed.ncbi.nlm.nih.gov/39692517/). *Brain : a journal of neurology*. [Case Report / Case Series]
Aughey G (2024). [PMID: 38746364](https://pubmed.ncbi.nlm.nih.gov/38746364/). *medRxiv : the preprint server for health sciences*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613668

Orphanet

European rare disease database

Orphanet:402364

GARD

Genetic and Rare Diseases Info Center

GARD:10995

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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infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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