X-linked complicated corpus callosum dysgenesis

Orpha code: 1497OMIM code: 304100

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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