Alopecia-intellectual disability syndrome

Orpha code: 2850OMIM code: 613930

Definicja

An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

Disease data
Klasyfikacja

Disease

Synonimy
Perniola-Krajewska-Carnevale syndrome
Zespół Perniola, Krajewskiej i Carnevale
Kod ORPHA
2850
Kod OMIM
613930
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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