Meier-Gorlin syndrome 5
MONDO:0013432Mondo
Findings
No curated finding names Meier-Gorlin syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013432), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Birth length less than 3rd percentileHPOHP:0003561
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Elbow dislocationHPOHP:0003042
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient · Infantile onset
- Gastroesophageal refluxHPO
Show the remaining 15
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
- MicrotiaHPOHP:0008551
- 1 of 1 reported patient
- Mild global developmental delay
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.
- CDC6HGNC:1744
- Definitive · G2P · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: Meier-Gorlin syndrome 5
- Also called
- CDC6 Meier-Gorlin syndromeMeier-Gorlin syndrome caused by mutation in CDC6Meier-Gorlin syndrome type 5