holoprosencephaly 7
MONDO:0012562Mondo
Findings
No curated finding names holoprosencephaly 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012562), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
42 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.
- MacrotiaHPOHP:0000400
- 3 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 12 reported patients
- Absent nasal septal cartilageHPOHP:0005273
- 2 of 4 reported patients
- Alobar holoprosencephalyHPOHP:0006988
- 2 of 4 reported patients
- HoloprosencephalyHPOHP:0001360
- 4 of 8 reported patients
- MicrophthalmiaHPOHP:0000568
Show the remaining 30
- Bilateral cleft lipHPOHP:0100336
- 2 of 8 reported patients
- Cleft palateHPOHP:0000175
- 1 of 4 reported patients
- Cranial asymmetryHPOHP:0000267
- 1 of 4 reported patients
- Flat faceHPOHP:0012368
- 1 of 4 reported patients
- HypertelorismHPOHP:0000316
- 1 of 4 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 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.
- PTCH1HGNC:9585
- Definitive · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: holoprosencephaly 7
- Also called
- holoprosencephaly caused by mutation in PTCH1holoprosencephaly type 7HPE7PTCH1 holoprosencephaly