Mondo Description Human HOXA1 syndromes is characterised 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.
Uniprot Description Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.
Disease Ontology Description An autosomal recessive disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050682
GARD:0008333
OMIM:601536
Orphanet:69739
SCTID:720518006
UMLS:C1832215
MONDO:0011099
High level summary of knowledge for a disease, including descriptions and datasource references.