Gene symbol: ROBO3.  Disease: Gaze Palsy, horizontal, with progressive scoliosis.
Abu-Amero
Khaled
K
Shafallah Center for Children with Special Needs, Department of Genetics, Lusail Street, 00, 4251, Doha, Qatar. abuamero@shafallahgenetics.org
D018389:Codon, Nonsense / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000235:genetics*; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*; D000097905:Roundabout Proteins
D018389:Codon, Nonsense; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins