growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
GRIDHH
exact
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
exact
growth retardation, impaired intellectual development, hypotonia, and hepatopathy
exact
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH
exact
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
SPBC8D2.06