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GAPO syndrome | RareConnect | RareConnect.io

/multiple congenital anomalies/dysmorphic syndrome-intellectual disability

/ectodermal dysplasia syndrome

/GAPO syndrome

GAPO syndrome

Rare Disease

MONDO:0009263

Also Known As

Growth delay-alopecia-pseudoanodontia-optic atrophy syndromegapo syndromeGrowth retardation, alopecia, pseudoanodontia and optic atrophyGrowth retardation, alopecia, pseudoanodontia, and optic atrophy

Definition

A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:230740 ↗

Orphanet

Orphanet:2067 ↗

GARD

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