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intellectual disability, X-linked 101 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 101

MONDO:0010489

Also known as:MID2 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 101, X-linked recessiveintellectual disability, X-linked type 101

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.

GeneticsX-linked · MID2 (chr X)

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: Global developmental delay, Hyperactivity, and Intellectual disability; and common findings: Poor speech, Strabismus, Long face, and Seizure and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Poor speech, Seizure, Global developmental delay

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.

MID2 encodes midline 2 (735 aa). E3 ubiquitin ligase that plays a role in microtubule stabilization. Highest expression in Skin Sun Exposed Lower leg (13.8 TPM) and Uterus (13.2 TPM).

Intellectual disability, X-linked 101 is associated with mutations in the MID2 gene on chromosome X.

MID2 is classified as a druggable target (B30 2 Spry Domain, Druggable Genome, and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for MID2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 101 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 5 common 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 intellectual disability, X-linked 101.

13 publications have been identified in PubMed for intellectual disability, X-linked 101. Research spans Basic Science / Preclinical (46%), Case Report / Case Series (15%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	6	46%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300928

GARD

Genetic and Rare Diseases Info Center

GARD:22694

Questions for Your Care Team

→Should female family members consider carrier screening for MID2?
→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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intellectual disability, X-linked 101

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, X-linked 101

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications