human HOXA1 syndromes
Findings
No curated finding names human HOXA1 syndromes yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0011099), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Sensorineural hearing impairmentHPOHP:0000407
- 26 of 29 reported patients
- Internal carotid artery hypoplasiaHPOHP:0005290
- 3 of 4 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 21 of 29 reported patients
- Central hypoventilationHPOHP:0007110
- 11 of 29 reported patients
- SeizureHPOHP:0001250
- 5 of 29 reported patients
- Duane anomalyHPOHP:0009921
- Horizontal supranuclear gaze palsyHPOHP:0007817
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.
- HOXA1HGNC:5099
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: human HOXA1 syndromes
- Also called
- ABSDAthabascan brainstem dysgenesis syndromeAthabaskan brainstem dysgenesis syndromeNavajo brainstem syndrome