Alopecia-intellectual disability syndrome

Orpha code: 2850OMIM code: 613930

Definition

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
Classification

Disease

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

No additional description.

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