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Features include common findings: Cyclopia, Proboscis, Cleft lip, and Ventricular septal defect and others; and sometimes findings: Absent septum pellucidum, Alobar holoprosencephaly, Bilateral tonic-clonic seizure, and Anteverted nares and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 5 | Median cleft upper lip, Cleft lip, Macrocephaly |
PLCH1 function has not been fully characterized.
Holoprosencephaly 14 is associated with mutations in the PLCH1 gene on chromosome 3.
Genetic testing for PLCH1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 common features.
No clinical trials have been registered for holoprosencephaly 14.
11 publications have been identified in PubMed for holoprosencephaly 14. Research spans Review / Meta-Analysis (36%), Case Report / Case Series (27%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 4 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC
Online Mendelian Inheritance in Man
Brain and nerves |
4 |
Bilateral tonic-clonic seizure, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly) |
Muscles | 2 | Shrinkage of the cerebellum (cerebellar atrophy), Generalized hypotonia |
Heart and blood vessels | 2 | Aortic valve atresia, Ventricular septal defect |
3 |
27% |
Laboratory research | 2 | 18% |
Clinical study results | 1 | 9% |
Disease patterns and progression | 1 | 9% |
Salman MS (2026). [PMID: 41607206](https://pubmed.ncbi.nlm.nih.gov/41607206/). *The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques*. [Basic Science / Preclinical]
An J (2026). [PMID: 40801429](https://pubmed.ncbi.nlm.nih.gov/40801429/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Li YF (2026). [PMID: 42002830](https://pubmed.ncbi.nlm.nih.gov/42002830/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Tan A (2026). [PMID: 41338047](https://pubmed.ncbi.nlm.nih.gov/41338047/). *Journal of plastic, reconstructive & aesthetic surgery : JPRAS*. [Review / Meta-Analysis]
Lust EER (2025). [PMID: 39067498](https://pubmed.ncbi.nlm.nih.gov/39067498/). *American journal of obstetrics and gynecology*. [Clinical Trial Publication]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta obstetricia et gynecologica Scandinavica*. [Case Report / Case Series]
Gaudioso F (2025). [PMID: 41562894](https://pubmed.ncbi.nlm.nih.gov/41562894/). *Medical sciences (Basel, Switzerland)*. [Review / Meta-Analysis]
Lim Y (2025). [PMID: 40532601](https://pubmed.ncbi.nlm.nih.gov/40532601/). *Ecotoxicology and environmental safety*. [Basic Science / Preclinical]
Karim JN (2024). [PMID: 38547384](https://pubmed.ncbi.nlm.nih.gov/38547384/). *Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology*. [Review / Meta-Analysis]
Xu T (2024). [PMID: 39058883](https://pubmed.ncbi.nlm.nih.gov/39058883/). *Medicine*. [Review / Meta-Analysis]