Cole-Carpenter syndrome 2
Findings
No curated finding names Cole-Carpenter syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.
Definition from the Mondo Disease Ontology (MONDO:0014573), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
18 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.
- Abnormally high-pitched voiceHPOHP:0001620
- 5 of 5 reported patients
- Frontal bossingHPOHP:0002007
- 6 of 6 reported patients
- MicroretrognathiaHPOHP:0000308
- 5 of 5 reported patients
- Midface retrusionHPOHP:0011800
- 3 of 3 reported patients
- Narrow iliac wingHPOHP:0002868
- 1 of 1 reported patient
- OsteopeniaHPOHP:0000938
- 7 of 7 reported patients
- Pectus excavatumHPOHP:0000767
Show the remaining 6
- HydrocephalusHPOHP:0000238
- 5 of 6 reported patients
- HypotoniaHPOHP:0001252
- 4 of 5 reported patients
- MacrocephalyHPOHP:0000256
- 4 of 5 reported patients
- Wormian bonesHPOHP:0002645
- 3 of 5 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 2 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 0 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.
- SEC24DHGNC:10706
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Cole-Carpenter syndrome 2
- Also called
- Cole-Carpenter syndrome caused by mutation in SEC24DCole-Carpenter syndrome type 2SEC24D Cole-Carpenter syndrome