| Metadata | |
|---|---|
| ID | DOID:0080698 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/25412741/, https://pubmed.ncbi.nlm.nih.gov/30472488/, https://pubmed.ncbi.nlm.nih.gov/31953237/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Opitz GBBB syndrome type II [EXACT] SPECC1L-related hypertelorism syndrome [EXACT] Teebi hypertelorism syndrome-1 [EXACT] |
| Parent Relationships |