Term Name: Teebi hypertelorism syndrome 1
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 )

Relationships
is a type of: autosomal dominant disease Teebi hypertelorism syndrome