All individuals with variants in gene RAC3

18 entries on 1 page. Showing entries 1 - 18.
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00311853 BAB8740 PubMed: White 2018 - F no - - - - - - RRS no macrocephaly, no frontal bossing, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, no triangular mouth, no gingival hyperplasia, no absent uvula, no cleft soft palate, dental anomalies, micrognathia; no mesomelia; no brachydactyly; clinodactyly; no camptodactyly; no broad thumb; fetal finger/toe pads; no broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00400075 - - - F - - - - - - - NEDBAF DD/ID; dysmorphic features; seizures; white matter involvement 1 1 Marcello Scala
00434845 CMC05 PubMed: Gostain 2020 - M - Canada - - - - - ? global developmental delay or intellectual disability, central nervous system anomalies 1 1 Johan den Dunnen
00447862 FamIPat1 PubMed: Costain 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Canada Europe;white - - - - NDD see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; seizures; feeding difficulties; bilateral inguinal cryptorchidism; no malignancy 1 1 Johan den Dunnen
00447863 FamIIPat1 PubMed: Costain 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium Europe;white - - - - NDD see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; seizures; feeding difficulties; no malignancy 1 1 Johan den Dunnen
00447864 FamIIIPat1 PubMed: Costain 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Germany Europe;white - - - - NDD see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; no feeding difficulties; no malignancy 1 1 Johan den Dunnen
00447865 FamIVPat1 PubMed: Costain 2019 2-generation family, 2 affected, unaffected non-carrier parents (suspected maternal gonadal mosaicism) M - Australia Europe;white - - - - NDD see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; feeding difficulties; unilateral lambdoid craniosynostosis; severe scoliosis; no malignancy 1 1 Johan den Dunnen
00447866 FamIVPat2 PubMed: Costain 2019 half-sister F - Australia Europe;white - - - - NDD see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; feeding difficulties; hydrocephalus requiring ventriculoperitoneal shunting; severe scoliosis; no malignancy 1 1 Johan den Dunnen
00447867 Pat1 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; seizures; musculoskeletal features; dyspraxia; no genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; stereotyped movements; no spasticity; eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447868 Pat2 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; no seizures; no musculoskeletal features; dyspraxia; no genitourinary abnormalities; normal cranial shape; no respiratory problems; behavioral disorders; stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447869 Pat3 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; no failure to thrive; no seizures; musculoskeletal features; dyspraxia; genitourinary abnormalities; normal cranial shape; respiratory problems; behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, no malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, no cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447870 Pat4 PubMed: Scala 2022 2-generation family, 2 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; no failure to thrive; no seizures; musculoskeletal features; dyspraxia; genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; endocrinological features; no microcephaly; hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447871 Pat5 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; seizures; musculoskeletal features; no dyspraxia; genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, polymicrogyria, dysgyria, no grey matter heterotopia, no cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447872 Pat7 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; no seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; abnormal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, no malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, no cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447873 Pat8 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; no dysmorphic features; no dysphagia; no failure to thrive; no seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; no respiratory problems; behavioral disorders; no stereotyped movements; no spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, no malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447874 Pat9 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; stereotyped movements; no spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, no white matter thinning, malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447875 Pat10 PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
00447876 patient PubMed: Hiraide 2019, PubMed: Scala 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NDD see paper; ..., global developmental delay/intellectual disability; no hypotonia; no dysmorphic features; dysphagia; no failure to thrive; seizures; no musculoskeletal features; genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly 1 1 Johan den Dunnen
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