GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation.
Verloes
A
A
Lesenfants
S
S
Jamar
M
M
Dideberg
V
V
Herens
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D005192:Family Health; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009006:Monosomy; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy