holoprosencephaly 4
Findings
No curated finding names holoprosencephaly 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.
Definition from the Mondo Disease Ontology (MONDO:0007734), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Absent nasal septal cartilageHPOHP:0005273
- 1 of 1 reported patient
- Aplasia of the olfactory tractHPOHP:0020128
- 1 of 1 reported patient
- Aplasia of the premaxillaHPOHP:0010757
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Depressed nasal tipHPOHP:0000437
- 1 of 1 reported patient
- Diabetes insipidusHPOHP:0000873
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
Show the remaining 1
- Semilobar holoprosencephalyHPOHP:0002507
- 1 of 2 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.
- TGIF1HGNC:11776
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: holoprosencephaly 4
- Also called
- holoprosencephaly caused by mutation in TGIF1holoprosencephaly type 4HPE4TGIF1 holoprosencephaly