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Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
Growth retardation, intellectual developmental disorder and hepatopathy syndrome
GRIDHH
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.
syndroom van groeiretardatie, verstandelijke beperking en hepatopathie
syndroom van groeiachterstand, mentale retardatie en aandoening van lever
syndroom van groeiretardatie, verstandelijke handicap en hepatopathie
GRIDDH
Id154361000146108
StatusPrimitive
Finding siteLiver structure
OccurrenceNeonatal
Associated morphologyGrowth retardation
Pathological processPathological developmental process