Athabaskan brainstem dysgenesis syndrome

Orpha code: 69739OMIM code: 601536

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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