Athabaskan brainstem dysgenesis syndrome

Orpha code: 69739OMIM code: 601536

Definition

A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.

Disease data
Classification

Disease

Synonyms
ABSD
ABSD
Zespół pnia mózgu Navajo
Athabascan brainstem dysgenesis syndrome
Navajo brainstem syndrome
ORPHA code
69739
OMIM code
601536
ICD10 code
G96.8
ICD11 code
-

No additional description.

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