X-linked complicated corpus callosum dysgenesis

Orpha code: 1497OMIM code: 304100

Definition

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.

Disease data
Classification

Clinical subtype

ORPHA code
1497
OMIM code
304100
ICD10 code
Q04.8
ICD11 code
LD20.Y

No additional description.

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