megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Findings
No curated finding names megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014408), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- MegalencephalyHPOHP:0001355
- 12 of 12 reported patients
- PolymicrogyriaHPOHP:0002126
- 12 of 12 reported patients
- Postaxial hand polydactylyHPOHP:0001162
- 11 of 12 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 10 of 11 reported patients
- VentriculomegalyHPOHP:0002119
- 10 of 12 reported patients
- Thick corpus callosumHPO
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.
- CCND2HGNC:1583
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- Also called
- CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromemegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2