All individuals with variants in gene SUFU

59 entries on 1 page. Showing entries 1 - 59.
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00032349 - PubMed: Jang 2015, Journal: Jang 2015 4-generation family, 8 affecteds (5F, 3M) - - Korea - - - - - ? see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, .. 1 8 Johan den Dunnen
00103967 - - - M yes Italy - - - - - 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 - - - - - 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 - - - - - 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 - - - - - JBTS Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; Neurodevelopmental delay; Dysarthria; Gait ataxia 1 1 Enza Maria Valente
00239170 - - - F - - - - - - - - HP:0001256 (Intellectual disability, mild) 1 1 Gunnar Schmidt
00276349 - - - - - - - - - - - BCNS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00289982 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00289983 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 16 Mohammed Faruq
00304229 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00377547 - - - - - - - - - - - JBTS - 2 1 Valentina Serpieri
00377548 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377549 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377550 - - - - - - - - - - - JBTS - 1 2 Valentina Serpieri
00377551 - - - - - - - - - - - JBTS - 1 5 Valentina Serpieri
00377552 - - - - - - - - - - - JBTS - 1 2 Valentina Serpieri
00377553 - - - - - - - - - - - JBTS - 1 2 Valentina Serpieri
00377554 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377555 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377556 - - - - - - - - - - - JBTS - 1 2 Valentina Serpieri
00377557 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377558 - - - - - - - - - - - JBTS - 1 2 Valentina Serpieri
00377559 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377560 - - - - - - - - - - - JBTS - 1 4 Valentina Serpieri
00377561 - - - - - - - - - - - JBTS - 1 4 Valentina Serpieri
00377562 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377563 - - - - - - - - - - - JBTS - 1 2 Valentina Serpieri
00377564 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00377565 - - - - - - - - - - - JBTS - 1 1 Valentina Serpieri
00416029 COR206 PatNG2282 PubMed: Serpieri 2022 - M - - Europe - - - - ? no infantile hypotonia; abnormal breathing; 9m-sit; 21m-walk; no speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
00416030 COR269 PatNG2526 PubMed: Serpieri 2022 2 generation family, 1 affected, unaffected carrier mother M - - Europe - - - - ? infantile hypotonia; normal breathing; 9m-sit; 30m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; no macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 2 Johan den Dunnen
00416031 COR269 PatNG2527 PubMed: Serpieri 2022 mother F - - Europe - - - - ? no infantile hypotonia; normal breathing; 8m-sit; 18m-walk; no speech delay; no persistent congenital ocular-motor apraxia; mild ataxia; no macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; no displaced fastigium 1 1 Johan den Dunnen
00416032 COR280 PatNG2721 PubMed: Serpieri 2022 family, 4 affected, unaffected carrier mother M - - Europe - - - - ? no infantile hypotonia; normal breathing; 7m-sit; 19m-walk; no speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; fastigium displaced 1 5 Johan den Dunnen
00416033 COR280 PatNG2724 PubMed: Serpieri 2022 sib F - - Europe - - - - ? no infantile hypotonia; normal breathing; 6m-sit; 18m-walk; speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
00416034 COR280 Pat15045 PubMed: Serpieri 2022 sib M - - Europe - - - - ? no infantile hypotonia; normal breathing; 7m-sit; 18m-walk; no speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; no displaced fastigium 1 1 Johan den Dunnen
00416035 COR280 Pat15043 PubMed: Serpieri 2022 sib M - - Europe - - - - ? no infantile hypotonia; normal breathing; 6m-sit; 18m-walk; no speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; no displaced fastigium 1 1 Johan den Dunnen
00416036 COR280 PatNG2723 PubMed: Serpieri 2022 mother F - - Europe - - - - ? no infantile hypotonia; normal breathing; normal sitting; normal walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; no macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; no displaced fastigium 1 1 Johan den Dunnen
00416037 COR552 PatNG5499 PubMed: Serpieri 2022 2 generation family, 1 affected, unaffected carrier mother M - - Europe - - - - ? infantile hypotonia; abnormal breathing; 24m-sit; 6y-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; moderate intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; no displaced fastigium 1 2 Johan den Dunnen
00416038 COR552 PatNG5748 PubMed: Serpieri 2022 mother F - - Europe - - - - ? no infantile hypotonia; no; 8m-sit; 18m-walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; no macrocephaly; no intellectual disability 1 1 Johan den Dunnen
00416039 COR572 PatNG5723 PubMed: Serpieri 2022 family, 2 affected adopted sibs M - - Europe - - - - ? infantile hypotonia; normal breathing; 9m-sit; 36m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; no macrocephaly; severe intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; no displaced fastigium 1 2 Johan den Dunnen
00416040 COR572 PatNG5866 PubMed: Serpieri 2022 sib M - - Europe - - - - ? infantile hypotonia; normal breathing; 7m-sit; 24m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; no macrocephaly; severe intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no displaced fastigium 1 1 Johan den Dunnen
00416041 CCM667 PatNG5993 PubMed: Serpieri 2022 - M - - Europe - - - - ? infantile hypotonia; normal breathing; 8m-sit; 22m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; mild intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no displaced fastigium 1 1 Johan den Dunnen
00416042 OPBG-136 PubMed: Serpieri 2022 - F - - Europe - - - - ? infantile hypotonia; normal breathing; 8m-sit; 24m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; mild intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no displaced fastigium 1 1 Johan den Dunnen
00416043 FamVienna PatB3515 PubMed: Serpieri 2022 2 generation family, 1 affected, unaffected carrier mother M - - Europe - - - - ? infantile hypotonia; normal breathing; 12m-sit; 24m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; mild intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no displaced fastigium 1 2 Johan den Dunnen
00416044 FamVienna PatB6284 PubMed: Serpieri 2022 mother F - - Europe - - - - ? no infantile hypotonia; normal breathing; normal sitting; normal walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; no macrocephaly; no intellectual disability; MRI brain vermis hypoplasia; 1 1 Johan den Dunnen
00416045 COR537 PatNG5426 PubMed: Serpieri 2022 2 generation family, 1 affected, unaffected carrier father F - - Europe - - - - ? infantile hypotonia; normal breathing; 8m-sit; 14m-walk; speech delay; persistent congenital ocular-motor apraxia; no ataxia; frontal bossing; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 2 Johan den Dunnen
00416046 COR537 PatNG6227 PubMed: Serpieri 2022 father M - - Europe - - - - ? no infantile hypotonia; normal breathing; 6m-sit; 14m-walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; no macrocephaly; no intellectual disability; MRI brain no superior cerebellar peduncles; no superior cerebellar dysplasia; no vermis hypoplasia; no Vermian split; no displaced fastigium 1 1 Johan den Dunnen
00416047 COR599 PatNG6191 PubMed: Serpieri 2022 - M - - Europe - - - - ? infantile hypotonia; normal breathing; 8m-sit; not walking; persistent congenital ocular-motor apraxia; macrocephaly; bicuspid valve insuff.; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
00416048 UW422-3 PubMed: Serpieri 2022 - M - United States - - - - - ? infantile hypotonia; normal breathing; 9m-sit; 20m-walk; no speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
00416049 UW423/UW427 PatUW423-3 PubMed: Serpieri 2022 family, 4 affected, unaffected carrir sister mothers M - United States - - - - - ? infantile hypotonia; abnormal breathing; 12m-sit; 30m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 4 Johan den Dunnen
00416050 UW423/UW427 PatUW423-1 PubMed: Serpieri 2022 father M - United States - - - - - ? no infantile hypotonia; normal breathing; 9-11m-sit; 12-­15m-walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability 1 1 Johan den Dunnen
00416051 UW423/UW427 PatUW427-3 PubMed: Serpieri 2022 cousin, son of UW427-1 M - United States - - - - - ? infantile hypotonia; normal breathing; 9m-sit; 22m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; postaxial polydactyly left foot; MRI brain no superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; fastigium displaced 1 1 Johan den Dunnen
00416052 UW423/UW427 PatUW427-1 PubMed: Serpieri 2022 father, cousin of UW423-1 M - United States - - - - - ? no infantile hypotonia; normal breathing; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; no intellectual disability 1 1 Johan den Dunnen
00416053 UW435-3 PubMed: Serpieri 2022 family, 1 affected, mother with macrocephaly M - United States - - - - - ? infantile hypotonia; abnormal breathing; 9m-sit; 21m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; Type I laryngeal cleft, aplasia cutis, cafè au lait spots; MRI brain no superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; no displaced fastigium 1 1 Johan den Dunnen
00416054 UW463-3 PubMed: Serpieri 2022 - M - United States - - - - - ? infantile hypotonia; normal breathing; 18m-sit; 36m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
00416055 UW430-3 PubMed: Serpieri 2022 family, 1 affected M - United States - - - - - ? infantile hypotonia; normal breathing; 14m-sit; 30m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; mild intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 2 Johan den Dunnen
00416056 UW430-1 PubMed: Serpieri 2022 father M - United States - - - - - ? no infantile hypotonia; normal breathing; 7m-sit; 12m-walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability 1 1 Johan den Dunnen
00416057 UW464-3 PubMed: Serpieri 2022 - M - United States - - - - - ? infantile hypotonia; normal breathing; 8m-sit; not walking; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
00416058 UW465-3 PubMed: Serpieri 2022 - M - United States - - - - - ? infantile hypotonia; normal breathing; 6m; 14m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced 1 1 Johan den Dunnen
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