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intellectual disability, autosomal dominant 34 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Intellectual disability and Global developmental delay; and common findings: Bilateral tonic-clonic seizure, Epicanthus, Upslanted palpebral fissure, and Hearing loss (hearing impairment) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Bilateral tonic-clonic seizure, Cerebral visual impairment, Intellectual disability
Arms and legs	2	Short foot, 2-3 toe syndactyly
Eyes	2	Cerebral visual impairment, Bilateral ptosis
Muscles	2	Axial hypotonia, Myopathic facies
Ears	1	Hearing loss (hearing impairment)
Head and neck	1	Secondary microcephaly

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intellectual disability, autosomal dominant 34

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intellectual disability, autosomal dominant 34

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team