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

intellectual disability, autosomal recessive 43 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Delayed speech and language development, Short stature, Delayed ability to walk, and Profound intellectual disability and others; and common findings: Highly arched eyebrow, Microcephaly, Strabismus, and Dorsal hirsutism and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Delayed speech and language development, Profound intellectual disability, Global developmental delay
Head and neck	2	Microcephaly, Thin upper lip vermilion
Eyes	1	Strabismus
Growth and development	1	Short stature
Muscles	1	Low muscle tone (hypotonia)

Kisho

intellectual disability, autosomal recessive 43

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

intellectual disability, autosomal recessive 43

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team