isolated megalencephaly
MONDO:0017089Mondo
Findings
No curated finding names isolated megalencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A megalencephaly (disease) that is not part of a larger syndrome.
Definition from the Mondo Disease Ontology (MONDO:0017089), read 2026-09-29. CC BY 4.0.
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.
- Abnormal cranial suture/fontanelle morphologyHPOHP:0000235
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Pointed chinHPOHP:0000307
- Very frequent (80% to 99% of cases)
- Prominent occiputHPOHP:0000269
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Truncal obesityHPOHP:0001956
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
- Long penisHPOHP:0000040
- Frequent (30% to 79% of cases)
- MacroorchidismHPOHP:0000053
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: isolated megalencephaly
- Also called
- isolated macrencephalyisolated megalencephaly (disease)nonsyndromic megalencephaly (disease)