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GENATLAS PHENOTYPE
last update : 04-04-2013
Symbol DEL9Q21
Location 9q21.13
Name chromosome 9q21 microdeletions
Corresponding gene RORB
Main clinical features significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip, PMID:23279911
Genetic determination chromosomal
Prevalence 13 cases
Function/system disorder
Type MCA/MR
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
  deletion haploinsufficiency deletions with different breakpoints and of variable lengths;the 750 kb smallest overlapping deleted region includes four genes
Remark(s) RORB is a strong candidate for a neurological phenotype