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- B431060941f02595925418eac280d4da6 hasDbXref "Orphanet:541423" @default.
- B431060941f02595925418eac280d4da6 type Axiom @default.
- B431060941f02595925418eac280d4da6 annotatedProperty IAO_0000115 @default.
- B431060941f02595925418eac280d4da6 annotatedSource MONDO_0014911 @default.
- B431060941f02595925418eac280d4da6 annotatedTarget "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." @default.