| CALFAN SYNDROME | |
| LOW Γ-GLUTAMYL-TRANSFERASE CHOLESTASIS, ACUTE LIVER FAILURE AND NEURODEGENERATION | |
|
616719
OMIM = Online Mendelian Inheritance of Men | |
new disease? biallelic SCYL1 variant | |
| Laboratory findings | Bilirubin normal/inc (serum) gamma-Glutamyl transferase (GGT) dec (serum) Phosphatase, alkaline normal/inc (serum) Transaminases (ASAT/ALAT) normal/inc (serum) |
| Symptoms | ataxia cerebellar atrophy or hypoplasia cholestasis failure to thrive hepatomegaly (large liver) intrauterine growth retardation liver failure microcephaly (<2 SD for age) muscle weakness onset, childhood onset, infancy peripheral neuropathy short stature speech development, delayed, abnormal splenomegaly (large spleen) |