Zespół Whitego i Suttona

Kod Orpha: 468678Kod OMIM: 616364

Definicja

A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

Dane
Klasyfikacja

Choroba

Synonimy
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Kod ORPHA
468678
Kod OMIM
616364
Kod ICD10
Q87.0
Kod ICD11
-

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