RAB23-related Carpenter syndrome
MONDO:0008710Mondo
Findings
No curated finding names RAB23-related Carpenter syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
Definition from the Mondo Disease Ontology (MONDO:0008710), read 2026-09-29. CC BY 4.0.
Features
62 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.
- Abnormal pinna morphologyHPOHP:0000377
- Agenesis of permanent teethHPOHP:0006349
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Aplasia/Hypoplasia of the middle phalanges of the handHPOHP:0009843
- Aplasia/Hypoplasia of the middle phalanges of the toesHPOHP:0010194
- Atrial septal defectHPOHP:0001631
- BrachycephalyHPOHP:0000248
- BrachydactylyHPOHP:0001156
- Cerebral atrophyHPOHP:0002059
- Clinodactyly of the 5th fingerHPOHP:0004209
- Complete duplication of proximal phalanx of the thumbHPOHP:0009608
- Conductive hearing impairmentHPOHP:0000405
Show the remaining 50
- Coronal craniosynostosisHPOHP:0004440
- Coxa valgaHPOHP:0002673
- CryptorchidismHPOHP:0000028
- Depressed nasal bridgeHPOHP:0005280
- Deviation of fingerHPOHP:0004097
- Duplication of the proximal phalanx of the halluxHPOHP:0010093
- EpicanthusHPOHP:0000286
- External genital hypoplasiaHPOHP:0003241
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.
- RAB23HGNC:14263
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: RAB23-related Carpenter syndrome
- Also called
- Carpenter syndrome 1Carpenter syndrome caused by mutation in RAB23Carpenter syndrome type 1RAB23 Carpenter syndrome