Conditions / Syndrome
infantile liver failure syndrome 1
info · Syndrome
An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.
Signs and symptoms
- Hepatic steatosis
- Microcephaly
- Abnormality of the coagulation cascade
- Seizure
- Global developmental delay
- Hypotonia
- Hepatomegaly
- Generalized hypotonia
- Failure to thrive
- Anemia