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optic atrophy-intellectual disability syndrome

Disease Summary
Associated Targets (2)
Tbio

1

Tdark

1


Explore Associated Targets
Mondo Description Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Uniprot Description An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.
Mondo Term and Equivalent IDs
MONDO:0014320:  optic atrophy-intellectual disability syndrome
Orphanet:401777: 
UMLS:C3810363: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found