holoprosencephaly
Findings
No curated finding names holoprosencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
Definition from the Mondo Disease Ontology (MONDO:0016296), read 2026-09-29. CC BY 4.0.
Features
93 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal nervous system morphologyHPOHP:0012639
- Very frequent (80% to 99% of cases)
- Bilateral cleft lipHPOHP:0100336
- Very frequent (80% to 99% of cases)
- HoloprosencephalyHPOHP:0001360
- Very frequent (80% to 99% of cases)
- Median cleft palateHPOHP:0009099
- Very frequent (80% to 99% of cases)
- Median cleft upper lipHPOHP:0000161
- Very frequent (80% to 99% of cases)
- Solitary median maxillary central incisorHPOHP:0006315
- Very frequent (80% to 99% of cases)
- AnophthalmiaHPOHP:0000528
- Frequent (30% to 79% of cases)
- AnosmiaHPOHP:0000458
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Choanal atresiaHPOHP:0000453
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Show the remaining 81
- CyclopiaHPOHP:0009914
- Frequent (30% to 79% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Frequent (30% to 79% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Genes
4 genes
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.
- DISP1HGNC:19711
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal dominant · 2022
- Limited · Illumina · Semidominant · 2021
- GAS1HGNC:4165
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
- PTCH1HGNC:9585
- Limited · Illumina · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2025
- SCN7AHGNC:10594
- · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (17)
- alobar holoprosencephaly
- chromosome 1q41-q42 deletion syndrome
- holoprosencephaly 1
- holoprosencephaly 10
- holoprosencephaly 11
- holoprosencephaly 12 with or without pancreatic agenesis
- holoprosencephaly 13, X-linked
- holoprosencephaly 14
- holoprosencephaly 2
- holoprosencephaly 3
- holoprosencephaly 4
- holoprosencephaly 6
- holoprosencephaly 7
- holoprosencephaly 8
- lobar holoprosencephaly
- microform holoprosencephaly
- semilobar holoprosencephaly
Other names
2 names
Resolves to: holoprosencephaly
- Also called
- holoprosencephaly sequenceHPE