Meier-Gorlin syndrome 7
MONDO:0014894Mondo
Findings
No curated finding names Meier-Gorlin syndrome 7 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 CDC45 gene.
Definition from the Mondo Disease Ontology (MONDO:0014894), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
50 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.
- Thin eyebrowHPOHP:0045074
- 15 of 15 reported patients
- CraniosynostosisHPOHP:0001363
- 14 of 15 reported patients
- Progressive microcephalyHPOHP:0000253
- 12 of 13 reported patients
- MicrotiaHPOHP:0008551
- 13 of 15 reported patients
- Short statureHPOHP:0004322
- 10 of 13 reported patients
- Decreased body weightHPOHP:0004325
- 9 of 12 reported patients
- Aplasia/Hypoplasia of the patellaHPOHP:0006498
Show the remaining 38
- CryptorchidismHPOHP:0000028
- 1 of 7 reported patients
- MicropenisHPOHP:0000054
- 1 of 7 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 15 reported patients
- Cleft palateHPOHP:0000175
- 2 of 15 reported patients
- Dislocated radial headHPOHP:0003083
- 2 of 15 reported patients
- Low-set earsHPOHP:0000369
- 2 of 15 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.
- CDC45HGNC:1739
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Meier-Gorlin syndrome 7
- Also called
- CDC45 Meier-Gorlin syndromeMeier-Gorlin syndrome 7; MGORS7Meier-Gorlin syndrome caused by mutation in CDC45Meier-Gorlin syndrome type 7MGORS7