| Term Name: | Bamforth-Lazarus syndrome |
|---|---|
| Synonyms: | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE |
| Definition: | A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. |
| Ontology: | Human Disease [DOID:0050655] ( DOID:0050655 ) |