Alopecia-intellectual disability syndrome

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Name:
Alopecia-intellectual disability syndrome
Description:
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.
ORPHAcode:
2850
Synonyms:
Perniola-Krajewska-Carnevale syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14