All individuals with variants in gene SUFU

10 entries on 1 page. Showing entries 1 - 10.
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00032349 - PubMed: Jang 2015, Journal: Jang 2015 4-generation family, 8 affecteds (5F, 3M) - - Korea - - 0 - - ? see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, .. 1 8 Johan den Dunnen
00103967 - - - M yes Italy - - 0 - - JBTS Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia 1 1 Enza Maria Valente
00103968 - - - F yes Italy - - 0 - - JBTS phenotype details: Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia 1 1 Enza Maria Valente
00104077 - - - M yes Egypt - - 0 - - JBTS Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; right hand Postaxial polydactyly; global macrosomia; Neurodevelopmental delay; Dysarthria; Gait ataxia 1 1 Enza Maria Valente
00104268 - - - F yes Egypt - - 0 - - JBTS Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; Neurodevelopmental delay; Dysarthria; Gait ataxia 1 1 Enza Maria Valente
00239170 - - - F - - - - 0 - - - HP:0001256 (Intellectual disability, mild) 1 1 Gunnar Schmidt
00276349 - - - - - - - - 0 - - BCNS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00289982 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00289983 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 16 Mohammed Faruq
00304229 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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