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

Features include always present findings: Moderate intellectual disability, Macroorchidism, Blepharophimosis, and Narrow palpebral fissure and others; and very common findings: Coarse facial features, Everted lower lip vermilion, Delayed speech and language development, and Palpebral edema. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Moderate intellectual disability, Delayed speech and language development, Seizure
Head and neck	3	Coarse facial features, Thick lower lip vermilion, Everted lower lip vermilion
Ears	1	Bilateral sensorineural hearing impairment

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syndromic X-linked intellectual disability Shashi type

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syndromic X-linked intellectual disability Shashi type

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team