Laryngeal abductor paralysis-intellectual disability syndrome

Orpha code: 2375OMIM code: 308850

Definicja

A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Plott syndrome
Zespół plotta
Kod ORPHA
2375
Kod OMIM
308850
Kod ICD10
J38.0
Kod ICD11
-

No additional description.

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