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- B9077768c5c29d571b2e8aba7c2b2bfd9 hasDbXref "Orphanet:2479" @default.
- B9077768c5c29d571b2e8aba7c2b2bfd9 type Axiom @default.
- B9077768c5c29d571b2e8aba7c2b2bfd9 annotatedProperty IAO_0000115 @default.
- B9077768c5c29d571b2e8aba7c2b2bfd9 annotatedSource MONDO_0009577 @default.
- B9077768c5c29d571b2e8aba7c2b2bfd9 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.