Monosomy 12p

Også kjent som: Distal monosomy 12p
Engelsk navn: Distal deletion 12p
Engelske synonym: 12p13.33 microdeletion syndrome,Del(12)(p13.33),Distal monosomy 12p


Definisjon

A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.

Fra Orphanet

ORPHA: 280325
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

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