Distal 7q11.23 microdeletion syndrome

Orpha code: 254351OMIM code: 613729

Definicja

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Distal del(7)(q11.23)
Dystalna del(7)(q11.23)
Dystalna monosomia 7q11.23
Distal monosomy 7q11.23
Kod ORPHA
254351
Kod OMIM
613729
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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