Hoxha-Aliu syndrome
MONDO:0958005Mondo
Findings
No curated finding names Hoxha-Aliu syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
64 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 fifth metatarsalHPOHP:0008079
- 1 of 1 reported patient
- Absent toe phalanx flexion creaseHPOHP:6000891
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Broad footHPOHP:0001769
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Contracture of the proximal interphalangeal joint of the 4th fingerHPOHP:0009276
- 1 of 1 reported patient
- Deep-set nailsHPOHP:0001814
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
Show the remaining 52
- Flat foreheadHPOHP:0004425
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- Hypoplastic fingernailHPOHP:0001804
- 2 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
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.
- ERI1HGNC:23994
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of