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severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

MONDO:0019786

Overview

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.

ResearchLimited published research (2 articles)

Prognosis

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 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia.

2 publications have been identified in PubMed for severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Erdogan EN (2025). [PMID: 40317680](https://pubmed.ncbi.nlm.nih.gov/40317680/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]
Lazea C (2024). [PMID: 38791606](https://pubmed.ncbi.nlm.nih.gov/38791606/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:94066

GARD

Genetic and Rare Diseases Info Center

GARD:19247

Questions for Your Care Team

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severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team