1q41q42 microdeletion syndrome


Engelsk navn: 1q41q42 microdeletion syndrome
Engelske synonym: Del(1)(q41q42),Monosomy 1q41q42


Definisjon

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.

Fra Orphanet

ORPHA: 250999
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

Mer informasjon


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