Autosomal recessive frontotemporal pachygyria

Orpha code: 329329OMIM code:

Definition

A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.

Disease data
Classification

Malformation syndrome

ORPHA code
329329
OMIM code
-
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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