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- Bdedd3eeabf51bd1e7724aecdd30d124d hasDbXref "Orphanet:2101" @default.
- Bdedd3eeabf51bd1e7724aecdd30d124d type Axiom @default.
- Bdedd3eeabf51bd1e7724aecdd30d124d annotatedProperty IAO_0000115 @default.
- Bdedd3eeabf51bd1e7724aecdd30d124d annotatedSource MONDO_0009313 @default.
- Bdedd3eeabf51bd1e7724aecdd30d124d annotatedTarget "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." @default.