Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
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.
Also known as GRIDHH, growth retardation, impaired intellectual development, hypotonia, and hepatopathy, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH — per MONDO