Ring chromosome 1

Også kjent som: Ringkromosom 1 syndrom
Engelsk navn: Ring chromosome 1 syndrome
Engelske synonym: Ring 1,Ring chromosome 1,r(1) syndrome


Definisjon

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

Fra Orphanet

ORPHA: 1437
Klassifiseringsnivå: Disorder
ICD-10: Q93.2

Mer informasjon


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