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- Bf1918b74406e1f3376dec4c5cdcc40a9 hasDbXref "Orphanet:2479" @default.
- Bf1918b74406e1f3376dec4c5cdcc40a9 type Axiom @default.
- Bf1918b74406e1f3376dec4c5cdcc40a9 annotatedProperty IAO_0000115 @default.
- Bf1918b74406e1f3376dec4c5cdcc40a9 annotatedSource MONDO_0009577 @default.
- Bf1918b74406e1f3376dec4c5cdcc40a9 annotatedTarget "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." @default.