human HOXA1 syndromes
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
ABDS
related
ABSD
exact
Athabascan brainstem dysgenesis syndrome
exact
Athabaskan brainstem dysgenesis
related
Athabaskan brainstem dysgenesis syndrome
exact
BSAS
related
Bosley Salih Alorainy syndrome
related
Navajo brainstem syndrome
exact