isolated exencephaly
MONDO:0035402Mondo
Findings
No curated finding names isolated exencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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 brain morphologyHPOHP:0012443
- Frequent (30% to 79% of cases)
- Abnormal calvaria morphologyHPOHP:0002683
- Frequent (30% to 79% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
- HoloprosencephalyHPOHP:0001360
- Frequent (30% to 79% of cases)
- Hypoplasia of the frontal boneHPOHP:0005466
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Abnormal facial skeleton morphologyHPOHP:0011821
- Occasional (5% to 29% of cases)
- Anterior pituitary hypoplasiaHPOHP:0010627
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
Show the remaining 2
- Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
- Posterior pituitary agenesisHPOHP:0011756
- Occasional (5% to 29% of cases)
Where it sits
- A kind of