1q44 microdeletion syndrome
Engelsk navn: 1q44 microdeletion syndrome
Engelske synonym: Del(1)(q44),Monosomy 1q44
Definisjon
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Fra Orphanet
ORPHA: 238769
Klassifiseringsnivå: Disorder
ICD-10: Q93.5