|
skos:definition |
JABL: A syndrome of multiple abnormalities comprising obstructive liver disease with cholestasis, hydroureter and hydronephrosis, cleft lip and palate, retinal pigmentation, and gastrointestinal obstructive disorders. Mental development is usually normal or moderately retarded. Initial growth delay is a constant feature. This and Kabuki make-up syndrome share many common characteristics.
|
