X-linked complicated corpus callosum dysgenesis

Disease Export to PDF
Name:
X-linked complicated corpus callosum dysgenesis
Description:
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.
ORPHAcode:
1497
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14