braddock-carey syndrome 2
MONDO:0859570Mondo
Findings
No curated finding names braddock-carey syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- MegakaryocytopeniaHPOHP:0005548
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Pierre-Robin sequenceHPOHP:0000201
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
Show the remaining 1
- Wide mouthHPOHP:0000154
- 1 of 1 reported patient
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.
- KIF15HGNC:17273
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of