megalencephaly-polydactyly syndrome
MONDO:0958279Mondo
Findings
No curated finding names megalencephaly-polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 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.
- Abnormal facial shapeHPOHP:0001999
- 2 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Diaphragmatic eventrationHPOHP:0009110
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HydronephrosisHPOHP:0000126
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Laterally extended eyebrowHPOHP:0011230
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
Show the remaining 26
- Meckel diverticulumHPOHP:0002245
- 1 of 1 reported patient
- MegalencephalyHPOHP:0001355
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- NeuroblastomaHPOHP:0003006
- 2 of 2 reported patients
- Postaxial polydactylyHPOHP:0100259
- 3 of 3 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
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.
- MYCNHGNC:7559
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of