Xq25 microduplication syndrome

Engelsk navn: Xq25 microduplication syndrome
Engelske synonym: Dup(X)(q25),Xq25 microtriplication


A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.

Fra Orphanet

ORPHA: 521258
Klassifiseringsnivå: Disorder
ICD-10: Q98.8

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