hypotrichosis 7
MONDO:0011452Mondo
Findings
No curated finding names hypotrichosis 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.
Definition from the Mondo Disease Ontology (MONDO:0011452), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- ComedoHPOHP:0025249
- 1 of 1 reported patient
- Sparse axillary hairHPOHP:0002215
- 3 of 3 reported patients
- Sparse body hairHPOHP:0002231
- 3 of 3 reported patients
- Sparse eyebrowHPOHP:0045075
- 3 of 3 reported patients
- Sparse eyelashesHPOHP:0000653
- 3 of 3 reported patients
- Sparse hairHPOHP:0008070
- 3 of 3 reported patients
- Sparse scalp hairHPOHP:0002209
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.
- LIPHHGNC:18483
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: hypotrichosis 7
- Also called
- hypotrichosis caused by mutation in LIPHhypotrichosis type 7hypotrichosis, localized, autosomal recessive 2HYPT7LAH2LIPH hypotrichosistotal Mari type hypotrichosis,woolly hair, autosomal recessive 2 with or without hypotrichosiswooly hair, autosomal recessive 2 with or without hypotrichosis