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.
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
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
SPBC8D2.06