Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Orpha code: 263410OMIM code:

Definition

A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.

Disease data
Classification

Disease

ORPHA code
263410
OMIM code
-
ICD10 code
E88.8
ICD11 code
-

No additional description.

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