Term Name: | Teebi hypertelorism syndrome 1 |
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Synonyms: | Opitz GBBB syndrome type II, SPECC1L-related hypertelorism syndrome, Teebi hypertelorism syndrome-1 |
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. |
Ontology: | Human Disease [DOID:0080698] ( DOID:0080698 ) |