Meier-Gorlin syndrome 4
MONDO:0013431Mondo
Findings
No curated finding names Meier-Gorlin syndrome 4 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 CDT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013431), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 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.
- Low-set earsHPOHP:0000369
- 7 of 7 reported patients
- MicrotiaHPOHP:0008551
- 7 of 7 reported patients
- Patellar aplasiaHPOHP:0006443
- 7 of 7 reported patients
- Thick lower lip vermilionHPOHP:0000179
- 6 of 7 reported patients
- Short statureHPOHP:0004322
- 5 of 7 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 2 of 3 reported patients
- Slender long boneHPOHP:0003100
Show the remaining 4
- Hypoplasia of the maxillaHPOHP:0000327
- 3 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 7 reported patients
- Narrow mouthHPOHP:0000160
- 2 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 7 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.
- CDT1HGNC:24576
- 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
3 names
Resolves to: Meier-Gorlin syndrome 4
- Also called
- CDT1 Meier-Gorlin syndromeMeier-Gorlin syndrome caused by mutation in CDT1Meier-Gorlin syndrome type 4