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intellectual disability, autosomal recessive 47 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Global developmental delay and Intellectual disability; and very common findings: Poor speech and Delayed speech and language development. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Poor speech, Delayed speech and language development, Focal impaired awareness seizure
Muscles	1	Generalized hypotonia
Heart and blood vessels	1	Mitral valve prolapse

Age of onset: adolescence.

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intellectual disability, autosomal recessive 47

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intellectual disability, autosomal recessive 47

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