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

Findings

No curated finding names severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary skin disorder
• hyperpigmentation of the skin
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Also called

intellectual disability, autosomal recessive 55intellectual disability, autosomal recessive type 55mental retardation, autosomal recessive 55mental retardation, autosomal recessive type 55MRT55neurodevelopmental disorder with microcephaly and gray scleraeneurodevelopmental disorder with microcephaly and grey sclerae