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- B9411666bbe83eeb171996bd3a3b3e8fc hasDbXref "https://clinicalgenome.org/affiliation/40006/" @default.
- B9411666bbe83eeb171996bd3a3b3e8fc type Axiom @default.
- B9411666bbe83eeb171996bd3a3b3e8fc annotatedProperty IAO_0000115 @default.
- B9411666bbe83eeb171996bd3a3b3e8fc annotatedSource MONDO_0100154 @default.
- B9411666bbe83eeb171996bd3a3b3e8fc annotatedTarget "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features." @default.