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neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

MONDO:0060490

Also known as:NMIHBA

Overview

A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.

GeneticsAutosomal recessive · PRUNE1 (chr 1)

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: Inability to walk, Profound intellectual disability, Low muscle tone (hypotonia), and Microcephaly and others; and very common findings: Overactive reflexes (hyperreflexia), Skeletal muscle atrophy, Spastic tetraparesis, and Joint contracture and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Clonus, Inability to walk, Cerebral cortical atrophy

Genetic Landscape

PRUNE1 function has not been fully characterized.

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies is associated with mutations in the PRUNE1 gene on chromosome 1.

Diagnosis

Genetic testing for PRUNE1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 5 very common features, 7 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 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.

5 publications have been identified in PubMed for neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Abdel-Ghafar SF (2026). [PMID: 41025723](https://pubmed.ncbi.nlm.nih.gov/41025723/). *Clinical genetics*. [Case Report / Case Series]
Booth KTA (2025). [PMID: 39918047](https://pubmed.ncbi.nlm.nih.gov/39918047/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Politano D (2025). [PMID: 40112685](https://pubmed.ncbi.nlm.nih.gov/40112685/). *Brain & development*. [Review / Meta-Analysis]
Idkaidak S (2025). [PMID: 40110277](https://pubmed.ncbi.nlm.nih.gov/40110277/). *Annals of medicine and surgery (2012)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617481

Orphanet

European rare disease database

Orphanet:544469

GARD

Genetic and Rare Diseases Info Center

GARD:17985

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 microcephaly, hypotonia, and variable brain anomalies

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

Questions for Your Care Team

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