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

Rare Disease

MONDO:0014886

Also known as:

MRT55intellectual disability, autosomal recessive 55intellectual disability, autosomal recessive type 55

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Companies Active in severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

2 companies

Organizations with orphan designations or approved therapies for this disease

Eton Pharmaceuticals, Inc.

Other

Designated

Insmed Incorporated