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

Orpha code: 488613OMIM code: 616973

Definition

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
Classification

Malformation syndrome

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

No additional description.

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