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Teebi hypertelorism syndrome 1
Summary
- Synonym
-
- 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.
- Super Class
- Teebi hypertelorism syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080698
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
