Term Name: | Bamforth-Lazarus syndrome |
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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 ) |