MEGF8-related Carpenter syndrome
Findings
No curated finding names MEGF8-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 MEGF8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013998), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
64 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.
- EpicanthusHPOHP:0000286
- 4 of 5 reported patients
- HypertelorismHPOHP:0000316
- 4 of 5 reported patients
- Short digitHPOHP:0011927
- 4 of 5 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 4 of 5 reported patients
- Low-set earsHPOHP:0000369
- 3 of 5 reported patients
- Preaxial polydactylyHPOHP:0100258
- 3 of 5 reported patients
- CryptorchidismHPOHP:0000028
Show the remaining 52
- Depressed nasal bridgeHPOHP:0005280
- 2 of 5 reported patients
- DextrocardiaHPOHP:0001651
- 2 of 5 reported patients · Congenital onset
- 2 of 5 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 5 reported patients
- Hitchhiker thumbHPOHP:0001234
- 2 of 5 reported patients
- HypotoniaHPOHP:0001252
- 2 of 5 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 5 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.
- MEGF8HGNC:3233
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: MEGF8-related Carpenter syndrome
- Also called
- Carpenter syndrome 2Carpenter syndrome caused by mutation in MEGF8Carpenter syndrome type 2MEGF8 Carpenter syndrome