20p13 microdeletion syndrome
Engelsk navn: 20p13 microdeletion syndrome
Engelske synonym: 20p subtelomeric deletion syndrome,Del(20)(p13),Monosomy 20p13
Definisjon
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
Fra Orphanet
ORPHA: 313781
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
Mer informasjon
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