Intellectual disability-developmental delay-contractures syndrome


Engelsk navn: Intellectual disability-developmental delay-contractures syndrome
Engelske synonym: Foot contractures-muscle atrophy-oculomotor apraxia syndrome,Wieacker-Wolff syndrome


Definisjon

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

Fra Orphanet

ORPHA: 3454
Klassifiseringsnivå: Disorder
ICD-10: G71.8

Mer informasjon


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