Symptomatic form of fragile X syndrome in female carrier

Engelsk navn: Symptomatic form of fragile X syndrome in female carriers


A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).

Fra Orphanet

ORPHA: 449291
Klassifiseringsnivå: Disorder
ICD-10: Q99.2

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