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

Mer informasjon


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