All individuals with variants in gene SHANK3

36 entries on 1 page. Showing entries 1 - 36.
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00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00016317 - PubMed: Della Mina et al 2014 - F - ? (unknown) - - - - - LISX1;SCLH diagnosis subcortical laminar heterotopia, X-linked, included 1 1 Lab Zuffardi
00024233 - PubMed: Gilissen 2014 - - - - - - - - - ID severe ID, signs of autism, aggressive behavior, 2 café au lait spots, increased pain threshold 1 1 Johan den Dunnen
00024268 - PubMed: Hamdan 2011 - M ? Canada - >15y - - - ID mild intellectual disability, no epilepsy, CT-scan normal, neurological examination normal, no autism, severe language impairment 1 1 Johan den Dunnen
00050428 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? generalized hypotonia, global developmental delay 1 1 Johan den Dunnen
00050706 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed speech and language development 1 1 Johan den Dunnen
00080066 - s - - - Germany - - - - - SCZD - 1 1 Simone Berkel
00080184 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080185 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080186 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080187 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080188 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080189 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080190 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080191 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00080192 - - - - - Germany - - - - - SCZD schizophrenia 1 1 Simone Berkel
00164433 - - - F - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00168111 ASD-685 PubMed: Du 2018 - M - China - - - - - autism DD/ID 1 1 Fei Li
00225491 30388402-Pat3 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; … 1 1 Johan den Dunnen
00269302 - - - M - ? (unknown) - - - - - ? HP:0001263 Global developmental delay HP:0001252 Muscular hypotonia HP:0000252 Microcephaly HP:0004322 Short stature HP:0001385 Hip dysplasia 1 1 Fanny Kortüm
00276050 - - - M - - - - - - - ? Intellectual disability, severe (HP:0010864); Autistic behavior (HP:0000729) 1 1 IMGAG
00293172 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00293173 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00293174 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296767 APN-122 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - ID severe intellectual disability 1 1 Johan den Dunnen
00296873 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Neurodevelopmental abnormality (HP:0012759) 1 1 Andreas Laner
00304914 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00320157 - - - F - - - - - - - ? Developmental regression (HP:0002376); Autistic behavior (HP:0000729); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00361925 177406 - - F ? Germany - - - - - PHMDS (+) Obesity,(+) Cognitive impairment 1 1 Andreas Laner
00375645 Pat25 PubMed: Srivastava 2014 - - - United States - - - - - ? developmental regression; autism spectrum disorder; macrocephaly; hypotonia, dystonia, ataxia; hyper-reflexia; stereotyped behavior; MRI brain normal 1 1 Johan den Dunnen
00375665 Pat75 PubMed: Srivastava 2014 - - - United States - - - - - ? developmental regression; intellectual disability/developmental delay; autism spectrum disorder; decreased muscle bulk, hypotonia; hyper-reflexia; stereotyped behavior; MRI brain normal 1 1 Johan den Dunnen
00387839 M8800188 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly, autism 1 2 Johan den Dunnen
00396110 189765 - - F no Germany - - - - - PHMDS Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact 1 1 Andreas Laner
00401300 057P - - F no Spain - - - - - ID, PHMDS - 1 1 Alejandro Brea-Fernández
00408071 189765 - - F ? Germany - - - - - PHMDS Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact 1 1 Andreas Laner
00409693 196993 - - M ? ? (unknown) - - - - - PHMDS Autism, Autistic behavior, Constipation, Chronic constipation, Behavioral abnormality, Delayed speech and language development, Severe expressive language delay, Language impairment 1 1 Andreas Laner
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