1q44 microdeletion syndrome
Engelsk navn: 1q44 microdeletion syndrome
Engelske synonym: Del(1)(q44),Monosomy 1q44
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 238769
Klassifiseringsnivå: DisorderICD-10: Q93.5