Disease #04244 (MBS (Moebius syndrome (MBS)), OMIM:157900)

Official abbreviation MBS
Name Moebius syndrome (MBS)
OMIM ID 157900
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene REV3L
Associated tissues -
Disease features -
Remarks -
Date created 2015-05-01 19:07:11 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00361927 Pat1 PubMed: Tomas-Roca 2015 - F - - - - - - - MBS see paper; ..., right upper facial palsy, no right lower facial palsy; left upper facial palsy, left lower facial palsy; abduction palsy (both eyes); horizontal gaze palsy; tongue malformations; feeding problems; swallowing difficulties; palatal weakness; dysarthria; language delay; epincanthic folds; flat nasal bridge; micrognatia; external ear defects; dental defects; bifid uvula; clinodactyly; low set thumbs; hip defect; pes valgus; scoliosis; anisomelia; motor retardation; clumsy motor performance; dysdiadochokinesis; elevated pain threshold; autism; facial hemangiomas PLXND1 PLXND1, SPO11 2 1 Johan den Dunnen
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 REV3L REV3L 1 1 Johan den Dunnen
00361929 Pat9 PubMed: Tomas-Roca 2015 - F - - - - - - - MBS see paper; ..., no right upper facial palsy, no right lower facial palsy; left upper facial palsy, no left lower facial palsy; abduction palsy (both eyes); horizontal gaze palsy; extra-ocular fibrosis; feeding problems; microcephaly; flat nasal bridge; dental defects; Poland anomaly; dysdiadochokinesis PLXND1 PLXND1 1 1 Johan den Dunnen
00361930 Pat10 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); horizontal gaze palsy; feeding problems; dysarthria; micrognatia; dental defects; motor retardation PLXND1 PLXND1 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 REV3L REV3L 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 REV3L REV3L 1 1 Johan den Dunnen
00361933 Pat3 PubMed: Tomas-Roca 2015 - - - - - - - - - MBS see paper; ... IFT172 IFT172 1 1 Johan den Dunnen
00361934 Pat4 PubMed: Tomas-Roca 2015 - M - - - - - - - MBS see paper; ... CCDC160 CCDC160 1 1 Johan den Dunnen
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