Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

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

0 clinical trials for this condition and its sub-types, 0 tagged with Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy itself.