holoprosencephaly 14
MONDO:0030886Mondo
Findings
No curated finding names holoprosencephaly 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
34 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.
- Cleft lipHPOHP:0410030
- 3 of 4 reported patients
- HoloprosencephalyHPOHP:0001360
- 3 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 3 of 4 reported patients
- CyclopiaHPOHP:0009914
- 2 of 4 reported patients
- ProboscisHPOHP:0012806
- 2 of 4 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 4 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 4 reported patients
- Absent septum pellucidumHPOHP:0001331
- 1 of 4 reported patients
- Alobar holoprosencephalyHPOHP:0006988
- 1 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 4 reported patients
- Aortic valve atresiaHPOHP:0010883
- 1 of 4 reported patients
- Aqueductal stenosisHPOHP:0002410
- 1 of 4 reported patients
Show the remaining 22
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- Cleft palateHPOHP:0000175
- 1 of 4 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 4 reported patients
- Double outlet right ventricleHPOHP:0001719
- 1 of 4 reported patients
- EEG abnormalityHPOHP:0002353
- 1 of 4 reported patients
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.
- PLCH1HGNC:29185
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: holoprosencephaly 14
- Also called
- HPE14