semilobar holoprosencephaly
MONDO:0700419Mondo
Findings
No curated finding names semilobar holoprosencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
Definition from the Mondo Disease Ontology (MONDO:0700419), read 2026-09-29. CC BY 4.0.
Features
72 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.
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypotelorismHPOHP:0000601
- Very frequent (80% to 99% of cases)
- Poor suckHPOHP:0002033
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal brainstem morphologyHPOHP:0002363
- Frequent (30% to 79% of cases)
- Abnormal central motor functionHPOHP:0011442
- Frequent (30% to 79% of cases)
- Abnormal hypothalamus physiologyHPOHP:0012285
- Frequent (30% to 79% of cases)
- Abnormal morphology of the olfactory bulbHPOHP:0040327
- Frequent (30% to 79% of cases)
- Abnormal pattern of respirationHPOHP:0002793
- Frequent (30% to 79% of cases)
Show the remaining 60
- Abnormality of the autonomic nervous systemHPOHP:0002270
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
- Aplasia of the falx cerebriHPOHP:0010654
- Frequent (30% to 79% of cases)
- Aspiration pneumoniaHPOHP:0011951
- Frequent (30% to 79% of cases)
Where it sits
- A kind of