Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

syndromic X-linked intellectual disability Abidi type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability Abidi type

MONDO:0010285

Also known as:MRXSABintellectual disability, X-linked syndromic, Abidi typemental retardation, X-linked syndromic, Abidi type

Overview

X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.

ResearchLimited published research (1 article)

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 very common findings: Intellectual disability, Microcephaly, Sloping forehead, and Short stature and others; and common findings: Hearing loss (hearing impairment). 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Microcephaly, Non-midline cleft of the upper lip

Prognosis

Phenotype severity distribution: 5 very common features, 1 common feature.

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 syndromic X-linked intellectual disability Abidi type.

1 publication has been identified in PubMed for syndromic X-linked intellectual disability Abidi type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Artes MH (2026). [PMID: 41714361](https://pubmed.ncbi.nlm.nih.gov/41714361/). *EMBO Rep*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300262

Orphanet

European rare disease database

Orphanet:85273

GARD

Genetic and Rare Diseases Info Center

GARD:9157

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

syndromic X-linked intellectual disability Abidi type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features