Bosley-Salih-Alorainy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BSAS, INCLUDED
NAVAJO BRAINSTEM SYNDROME BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED
ABDS
Number of Symptoms 5
OrphanetNr: 69737
OMIM Id: 601536
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000496) Abnormality of eye movement hallmark [HPO:skoehler] 79 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(HPO:0002194) Delayed gross motor development 37 / 7739
4
(HPO:0009145) Abnormality of cerebral artery 1 / 7739
5
(HPO:0002363) Abnormality of brainstem morphology obligate [HPO:skoehler] 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Athabaskan Brainstem Dysgenesis

Several Native American tribes, including the Navajo, are of Athabaskan descent. It is thought that the Athabaskans were relatively recent immigrants to North America, coming across the Bering Strait approximately 4,000 years ...

Molecular genetics OMIM Because the HOXA cluster falls in the BSAS haploidentical region, and because of similarities between the BSAS phenotype and the pathology of the Hoxa1 -/- mouse,Tischfield et al. (2005) analyzed the HOXA1 gene for mutations causing BSAS. Affected ...