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- Bf405627b1584d9a41438f34bc55dc04e hasDbXref "Orphanet:2101" @default.
- Bf405627b1584d9a41438f34bc55dc04e type Axiom @default.
- Bf405627b1584d9a41438f34bc55dc04e annotatedProperty IAO_0000115 @default.
- Bf405627b1584d9a41438f34bc55dc04e annotatedSource MONDO_0009313 @default.
- Bf405627b1584d9a41438f34bc55dc04e 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.