Optic atrophy‑intellectual disability syndrome

Engelsk navn: Optic atrophy-intellectual disability syndrome
Engelske synonym: BBSOAS,Bosch-Boonstra-Schaaf optic atrophy syndrome


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.

Fra Orphanet

ORPHA: 401777
Klassifiseringsnivå: Disorder
ICD-10: H47.2

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