| Disease ID | Source | Name | Description |
| 615879 | OMIM | Tatton-Brown-Rahman syndrome (TBRS) | An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. The disease is caused by variants affecting the gene represented in this entry. |
| 601626 | OMIM | Leukemia, acute myelogenous (AML) | A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. The disease is caused by variants affecting the gene represented in this entry. |
| 618724 | OMIM | Heyn-Sproul-Jackson syndrome (HESJAS) | An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections. The disease is caused by variants affecting the gene represented in this entry. |