Ringkromosom 11 syndrom

Også kjent som: Ring chromosome 11
Engelsk navn: Ring chromosome 11 syndrome
Engelske synonym: RC11,Ring 11,Ring chromosome 11,r(11) syndrome


Definisjon

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.

Fra Orphanet

ORPHA: 96175
Klassifiseringsnivå: Disorder
ICD-10: Q93.2

Mer informasjon


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