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 )

Relationships
is a type of: hypothyroidism