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- B16a907e4022ed6afe1d019a4cc5df34b hasDbXref "Orphanet:423894" @default.
- B16a907e4022ed6afe1d019a4cc5df34b type Axiom @default.
- B16a907e4022ed6afe1d019a4cc5df34b annotatedProperty IAO_0000115 @default.
- B16a907e4022ed6afe1d019a4cc5df34b annotatedSource MONDO_0018507 @default.
- B16a907e4022ed6afe1d019a4cc5df34b annotatedTarget "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." @default.