Ringkromosom 22 syndrom
Også kjent som: Ring chromosome 22
Engelsk navn: Ring chromosome 22 syndrome
Engelske synonym: Ring 22,Ring chromosome 22,r(22) syndrome
Definisjon
Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.
Fra Orphanet
ORPHA: 1446
Klassifiseringsnivå: Disorder
ICD-10: Q93.2
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
