| Disease ID | Source | Name | Description |
| 616483 | OMIM | Infantile liver failure syndrome 2 (ILFS2) | A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. The disease is caused by variants affecting the gene represented in this entry. |
| 614800 | OMIM | Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) | An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. The disease is caused by variants affecting the gene represented in this entry. |