Intellectual disability-strabismus syndrome

Orpha code: 363528OMIM code: 615286

Definicja

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Disease data
Klasyfikacja

Disease

Kod ORPHA
363528
Kod OMIM
615286
Kod ICD10
H50.8
Kod ICD11
-

No additional description.

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