Teebi hypertelorism syndrome 1 (DOID:0080698)
Alliance: disease page
Synonyms: Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1
Alt IDs: OMIM:145420, ORDO:1519
Definition: A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.