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severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (MRT55) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Seizure, Global developmental delay, Coarse facial features, and Failure to thrive in infancy; and common findings: Microcephaly, Brain shrinkage (cerebral atrophy), Profound intellectual disability, and Low muscle tone (hypotonia) and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	20	Brain shrinkage (cerebral atrophy), Seizure, Profound intellectual disability
Kidneys and urinary system	5	Protein in the urine (proteinuria), Decreased glomerular filtration rate, Chronic kidney disease
Muscles	4	Brain shrinkage (cerebral atrophy), Low muscle tone (hypotonia), Cerebral cortical atrophy
Head and neck	3	Microcephaly, Coarse facial features, Progressive microcephaly
Eyes	3	Strabismus, Visual impairment, Nystagmus
Growth and development	1	Failure to thrive in infancy
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Digestive system	1	Difficulty swallowing (dysphagia)

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severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

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severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

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