Disease association ontology term - MONDO:0014911 - growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Term summary
- ID
- MONDO:0014911
- Name
- growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- Ontology or CV name
- Disease association
- Definition
- 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.
