Ring chromosome 18
Også kjent som: Ringkromosom 18 syndrom
Engelsk navn: Ring chromosome 18 syndrome
Engelske synonym: Ring 18,Ring chromosome 18
Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 1442
Klassifiseringsnivå: DisorderICD-10: Q93.2
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
