All individuals with variants in gene REV3L

4 entries on 1 page. Showing entries 1 - 4.
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00361928 Pat5 PubMed: Tomas-Roca 2015 - M - - - - - - - MBS see paper; ..., right upper facial palsy, right lower facial palsy; left upper facial palsy, left lower facial palsy; abduction palsy (both eyes); tongue malformations; swallowing difficulties; palatal weakness; dysarthria; language delay; epincanthic folds; flat nasal bridge; ectrodactyly; rib deformities; anisomelia; Poland anomaly; motor retardation; clumsy motor performance; hypotonia; hearing loss; cardiac defect 1 1 Johan den Dunnen
00361931 Pat11 PubMed: Tomas-Roca 2015 - F - - - - - - - MBS see paper; ..., right upper facial palsy, right lower facial palsy; left upper facial palsy, left lower facial palsy; abduction palsy (both eyes); horizontal gaze palsy; lagophthalmos; swallowing difficulties; dental defects; motor retardation 1 1 Johan den Dunnen
00361932 Pat12 PubMed: Tomas-Roca 2015 - F - - - - - - - MBS see paper; ..., right upper facial palsy, right lower facial palsy; left upper facial palsy, left lower facial palsy;; lagophthalmos 1 1 Johan den Dunnen
00361935 patient PubMed: Halas 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - NDD see paper; ..., developmental delay, hypotrophy, dysmorphic features, no Moebius syndrome 1 1 Johan den Dunnen
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