/growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Rare Disease

MONDO:0014911

Also Known As

GRIDHHGrowth retardation, intellectual developmental disorder, hypotonia, and hepatopathygrowth retardation, impaired intellectual development, hypotonia, and hepatopathygrowth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH

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.