Teebi hypertelorism syndrome 1

Term ID

DOID:0080698

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. (3)

References

• MIM:145420
• ORDO:1519

Ontology

Human Disease   ( DOID:0080698 )