Teebi hypertelorism syndrome 2
MONDO:0030674Mondo
Findings
No curated finding names Teebi hypertelorism syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypertelorismHPOHP:0000316
- 19 of 19 reported patients
- Broad nasal tipHPOHP:0000455
- 18 of 19 reported patients
- Thick eyebrowHPOHP:0000574
- 17 of 19 reported patients
- Chin with horizontal creaseHPOHP:0011823
- 16 of 19 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 16 of 19 reported patients
- Short noseHPOHP:0003196
- 15 of 19 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 13 of 19 reported patients
- High palateHPOHP:0000218
- 12 of 19 reported patients
- Wide anterior fontanelHPOHP:0000260
- 10 of 19 reported patients
- HypospadiasHPOHP:0000047
- 4 of 8 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 7 of 19 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 19 reported patients
Show the remaining 12
- Intellectual disabilityHPOHP:0001249
- 7 of 19 reported patients
- ProptosisHPOHP:0000520
- 5 of 19 reported patients
- PtosisHPOHP:0000508
- 5 of 19 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 18 reported patients
- Delayed eruption of teethHPOHP:0000684
- 3 of 19 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 19 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDH11HGNC:1750
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · ClinGen · Autosomal dominant · 2024
- Moderate · G2P · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
1 name
Resolves to: Teebi hypertelorism syndrome 2
- Also called
- TBHS2