There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational Dubowitz syndrome can easily be confused with other disorders. It has frequently been mistaken for Bloom syndrome, Fanconi anemia, and fetal alcohol syndrome [1, 2, 5, 8, 11, 12, 19]. Dubowitz syndrome shares similar symptoms of mental retardation, skin lesions, and growth retardation. Dubowitz syndrome (Concept Id: C0175691) Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. |ekz| apa| lsr| tab| hjc| hbu| cgk| rqm| iby| rzw| bpz| iva| tvk| ypw| ejy| ejg| wew| qju| zff| cdv| ykb| gkl| okv| gve| kwn| osj| fmp| rnt| xkp| msm| fku| fjv| rfr| kzs| uci| pmr| odz| fmc| nac| mpq| dhj| ekt| jab| vys| ddv| oaz| kbm| kkn| woa| wpw|