Distal monosomy 4q
Engelsk navn: Distal deletion 4q
Engelske synonym: Distal monosomy 4q,Monosomy 4qter,Telomeric deletion 4q
Definisjon
A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.
Fra Orphanet
ORPHA: 96145
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
Mer informasjon
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