KDM5C-related syndromic X-linked intellectual disability

Disease Export to PDF
Name:
KDM5C-related syndromic X-linked intellectual disability
Description:
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.
ORPHAcode:
85279
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14