Pharos: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (1 associated targets)

Disease Summary

Associated Targets (1)

Tbio

1

Uniprot Description

A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Mondo Term and Equivalent IDs

MONDO:0014886: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

OMIM:617051: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55

Orphanet:488627:

UMLS:C4310745: