Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 06-02-2010

Symbol	ABSD
Location	7p15.2
Name	Athabaskan brainstem dysgenesis syndrome
Other name(s)	Navajo brainstem syndrome Bosley-Salih-Alorainy syndrome
Corresponding gene	HOXA1
Other symbol(s)	BSAS, ABDS
Main clinical features	bilateral Duane syndrome with congenital horizontal gaze palsy, deafness, and central hypoventilation, global developmental delay and seizures, malformations of the cerebral vasculature, autism, congenital cardiac defects and lack of cranial nerve VII palsy
Genetic determination	autosomal recessive
Function/system disorder
Type	malformation

Gene product

Name	homeobox A1

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		truncated protein	homozygous mutations

Remark(s)