Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Orpha code: 488613OMIM code: 616973

Definicja

A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
488613
Kod OMIM
616973
Kod ICD10
F84.8
Kod ICD11
-

No additional description.

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