Intellectual disability-strabismus syndrome

Orpha code: 363528OMIM code: 615286

Definition

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
Classification

Disease

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

No additional description.

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