alopecia-intellectual disability syndrome 1
MONDO:0021035Mondo
Findings
No curated finding names alopecia-intellectual disability syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- AlopeciaHPOHP:0001596
- 7 of 7 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 7 of 7 reported patients
- Alopecia universalisHPOHP:0002289
- 3 of 7 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.
- AHSGHGNC:349
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: alopecia-intellectual disability syndrome 1
- Also called
- alopecia-mental retardation syndrome 1APMR1