Disease #00138 (autism (autism), OMIM:209850)

Official abbreviation autism
Name autism
OMIM ID 209850
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 248
Phenotype entries for this disease 438
Associated with 1 gene MAGEL2
Associated tissues -
Disease features -
Remarks -
Date created 2013-06-04 18:17:33 +02:00 (CEST)
Date last edited 2015-12-08 23:54:35 +01:00 (CET)


Individuals

248 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
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Genes screened
Variants in genes
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00000012 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 ACADVL, ADA, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, PRKAR1A, SAMHD1, SERPINA1, SLC26A2 16 1 Global Variome, with Curator vacancy
00000013 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 8 1 Global Variome, with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, HTT, HUWE1, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, PRKAR1A, SERPINA1, SFTPB, SGSH, SLC37A4, SNRNP200, TMPPE, TSFM 22 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, SERPINA1, TGM1 ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, PRKAR1A, SERPINA1, TMPPE 11 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1 ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1, PRKAR1A, TMPPE 10 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE 15 1 Global Variome, with Curator vacancy
00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 AFF2, ALG12, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, MFN2, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 1 Global Variome, with Curator vacancy
00001608 Pat2 PubMed: Schaaf 2013 - M - United States Hispanic - - - - autism, ID neonatal hypotonia with poor suck, feeding problems, excessive weight gain, hyperphagia, developmental delay, intellectual disability, facial dysmorphia, hypogonadism, eye abnormalities, speech articulation defects, sleep apnea, autism spectrum disorde MAGEL2 MAGEL2 1 1 Christian Schaaf
00004118 - - - - no Spain - - - - - autism - BCKDK BCKDK 1 1 Alfonso Luis Oyarzábal Sanz
00004119 - - - - - Afghanistan - - - - - autism - - BCKDK 1 1 Alfonso Luis Oyarzábal Sanz
00016127 - PubMed: Soler-Alfonso 2014 3-generation family, 4 affecteds, twin III3 M no United States white >10y - - - autism anxiety disorder, dysthymia, language processing disorder, borderline intellectual functioning (IQ 84) CHRNA7 CHRNA7 1 1 Christian Schaaf
00029005 - PubMed: Torrico 2015 240 patients - - Spain white - - - - autism - PTCHD1 PTCHD1 4 240 Bru Cormand
00029653 - PubMed: Piton 2008, Journal: Piton 2008 - F no Canada French Canadian - - - - autism see paper; Asperger, autism, no language delay, no intellecutal disability, functioning borderline range intelligence (5h centile Wechsler Intelligence Scale for Children), fluid intelligence around the 25th centile (Raven Matrices Test), adaptation level below the 2nd centile (Vinland Adaptive Behavior Scale). IL1RAPL1 IL1RAPL1 1 1 Johan den Dunnen
00029654 - PubMed: Piton 2008, Journal: Piton 2008 142 ASD cases M - United Kingdom (Great Britain) Anglo-Saxon - - - - autism - IL1RAPL1 IL1RAPL1 1 1 Johan den Dunnen
00029656 - PubMed: Piton 2008, Journal: Piton 2008 - M - Canada French Canadian - - - - autism - IL1RAPL1 IL1RAPL1 1 1 Johan den Dunnen
00029660 - PubMed: Piton 2008, Journal: Piton 2008 2-generation family, affected boy, unaffacted carrier mother M - - Jewish-Sephardic - - - - autism - NCS1 NCS1 1 1 Johan den Dunnen
00037526 - - - M no - unknown - - - - autism - SEMA5A SEMA5A 1 1 Sophie Calderari
00037568 - - - M no - - - - - - autism - SEMA5A SEMA5A 1 1 Sophie Calderari
00050112 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - autism, CRS clinically diagnosed ASD, moderate intellectual disability (mother average IQ), nicoronal synostosis also present in mother TCF20 TCF20 1 1 Johan den Dunnen
00050113 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - autism classical Asperger syndrome, good intellectual function (13y IQ120); 7y ADOS-G score 16; nephew has autism, severe intellectual disability, early-onset epilepsy TCF20 TCF20 1 1 Johan den Dunnen
00050114 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 1 affected, heterozygous carrier mother M - United Kingdom (Great Britain) - - - - - autism ASD; 8y-ADOS-G score 11; IQ100 TCF20 TCF20 1 1 Johan den Dunnen
00050115 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 1 affected, heterozygous carrier father M - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 1 Johan den Dunnen
00050116 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 2 affected brothers, heterozygous carrier father/half-brother M no United Kingdom (Great Britain) - - - - - autism both boys ASD (1 11y-ADOS-G score 11/?), average range IQ (80/107); father broader autism phenotype TCF20 TCF20 1 2 Johan den Dunnen
00050117 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 2 affecteds, variant absent in affected half-sibling, transmitted by non-shared parent - - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 2 Johan den Dunnen
00050118 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 2 affecteds, variant absent in 1 affected sibling, present in unaffected sibling - - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 2 Johan den Dunnen
00050119 - PubMed: Babbs 2014, Journal: Babbs 2014 - - - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 1 Johan den Dunnen
00050120 - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 331 ASD cases - - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 10 Johan den Dunnen
00050123 - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 331 ASD cases - - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 2 Johan den Dunnen
00050125 - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 336 ASD cases - - United Kingdom (Great Britain) - - - - - autism - TCF20 TCF20 1 1 Johan den Dunnen
00050126 - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sibs M - United Kingdom (Great Britain) - - - - - autism see paper; II4 (proband) 10y ADOS-G score 13 (10 years), IQ79; 7m abnormal cranio-facial appearance, ... PatII2 12y ADOS-G score 16, IQ45-55 TCF20 TCF20 1 2 Johan den Dunnen
00065187 26942287 UMCN3 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >09y - - - autism, ID mild autism (HP:0000729), Microcephaly (HP:0000252), Feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); severe speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065191 26942287 UMCN4 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >06y - - - autism, ID mild autism (HP:0000729), no microcephaly (-HP:0000252), Feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065194 26942287 UMCN5 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >02y - - - autism, ID mild autism (HP:0000729), Microcephaly (HP:0000252), Feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065195 26942287 UMCN6 PubMed: Stessman 2016, Journal: Stessman 2016 - M - Netherlands - >12y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065196 26942287 UMCN7 PubMed: Stessman 2016, Journal: Stessman 2016 - F - Netherlands - >05y - - - autism, ID autism (HP:0000729), mild microcephaly (HP:0000252), no feeding difficulties (-HP:0011968), no abnormality of vision (-HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065202 26942287 FR1 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >04y - - - autism, ID autism (HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252),no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065204 26942287 FR3 PubMed: Stessman 2016, Journal: Stessman 2016 - F - France - >06y - - - autism, ID autism (HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065205 26942287 FR4 PubMed: Stessman 2016, Journal: Stessman 2016 - F - France - >06y - - - autism, ID autism (HP:0000729), microcephaly (HP:0000252), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065208 26942287 FR6 PubMed: Stessman 2016, Journal: Stessman 2016 - M - France - >17y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065210 26942287 EE1 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >08y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065211 26942287 EE2 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >14y - - - autism, ID autism (HP:0000729), mild microcephaly (HP:0000252), no feeding difficulties (-HP:0011968), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); mild speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065212 26942287 EE5 PubMed: Stessman 2016, Journal: Stessman 2016 - F - - - >21y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), mild obesity tendency (HP:0001513); moderate intellectual disability (HP:0002342); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065213 26942287 EE6 PubMed: Stessman 2016, Journal: Stessman 2016 - F - - - >07y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no obesity (-HP:0001513); mild intellectual disability (HP:0001256); severe speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065214 26942287 EE7 PubMed: Stessman 2016, Journal: Stessman 2016 - M - - - >07y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00065216 26942287 EE8 PubMed: Stessman 2016, Journal: Stessman 2016 - F - - - >06y - - - autism, ID autism (HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); moderate speech delay (HP:0000750) POGZ POGZ 1 1 Pieter Klap
00074614 26739615 pt.3 PubMed: White 2016, Journal: White 2016 - M - (United States) - >03y10m - - - autism, ID Astigmatism (HP:0000483), Hypermetropia (HP:0000540), Focal seizures with impairment of consciousness or awareness (HP:0002384), Strabismus (HP:0000486), Abnormality of malar bones (HP:0012369), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Bifid uvula (HP:0000193), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252),; intellectual disability (HP:0001249); global developmental delay (HP:0001263) - POGZ 1 1 Pieter Klap
00074616 26739615 pt.5 PubMed: White 2016, Journal: White 2016 - F - (United States) - >04y07m - - - autism, ID Sensorineural hearing impairment (HP:0000407), Astigmatism (HP:0000483), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Hypoplasia of midface (HP:0011800), Strabismus (HP:0000486), Optic nerve hypoplasia (HP:0000609), Depressed nasal bridge (HP:0005280), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Cleft palate (HP:0000175), High, narrow palate (HP:0002705), Pointed chin (HP:0000307), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252), Dandy-Walker malformation (HP:0001305), Patent foramen ovale (HP:0001655), Duplicated collecting system (HP:0000081), Global developmental delay (HP:0001263), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263) - POGZ 1 1 Pieter Klap
00074629 25131214-FamAPat1 PubMed: Chaudhry 2015, Journal: Chaudhry 2015 2-generation family, 2 affected brothers M - France white >12y08m - - - autism, ID long face (HP:0000276), short columella (HP:0002000), long philtrum (HP:0000343), thin upper lip vermilion (HP:0000219), wide mouth (HP:0000154), micrognathia (HP:0000347), hypotonic face (HP:0000271); intellectual disability (HP:0001249); global developmental delay (HP:0001263) PTCHD1 PTCHD1 1 2 Pieter Klap
00095046 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 PatA2 M - France - >33y - - - autism no dysmorphic features, no growth abnormalities, unsure about developmental/cognitive functioning, no neurological features PTCHD1 PTCHD1 1 1 Johan den Dunnen
00100458 - - - M no Germany white - - - - autism - - CACNA1D 1 1 Joerg Striessnig
00104567 - - - M ? France - - - - - autism - CCDC160, DNAH10, MTMR8, SLC44A3, UBAP2L CCDC160, DNAH10, MTMR8, SLC44A3, UBAP2L 7 1 Karine Poirier
00104979 22865819-PatHI1243 PubMed: Bi 2012, Journal: Bi 2012 - - - - white - - - - autism see paper; ... ANK3 ANK3 1 1 Johan den Dunnen
00111394 S_063 PubMed: Popp 2017, Journal: Popp 2017 - F - - - - - - - autism Mild ID, wide ventricles, constipation, social difficulties CHD8 CHD8 1 1 Bernt Popp
00133220 25533962-Pat10 PubMed: De Rubeis 2014, PubMed: Dias 2016 - F - - - - - - - autism autism, severe intellectual disability; 6y-speaks 2 words BCL11A BCL11A 1 1 Johan den Dunnen
00133221 27453576-Ind11 PubMed: Iossifov 2012, PubMed: Dias 2016 - M - - - - - - - autism autism BCL11A BCL11A 1 1 Johan den Dunnen
00144324 - - - M ? - - - - - - autism - - CREBBP 1 1 Stefano Paolacci
00144326 - - - F ? - - - - - - autism - - CREBBP 1 1 Stefano Paolacci
00168111 ASD-685 PubMed: Du 2018 - M - China - - - - - autism DD/ID SHANK3 SHANK3 1 1 Fei Li
00168112 - PubMed: Du 2018 - M - China - - - - - autism - AFF2 AFF2 1 1 Fei Li
00168113 - PubMed: Du 2018 - M - China - - - - - autism - IL1RAPL1 IL1RAPL1 1 1 Fei Li
00168114 - PubMed: Du 2018 - M - China - - - - - autism - POGZ POGZ 1 1 Fei Li
00168116 - PubMed: Du 2018 - M - China - - - - - autism - ADNP ADNP 1 1 Fei Li
00168117 - PubMed: Du 2018 - M - China - - - - - autism - PTEN PTEN 1 1 Fei Li
00181115 - - - ? - - - - - - - autism - COPA - 1 1 Yanjie Fan
00181116 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181117 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181118 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181119 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181120 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181121 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181122 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181123 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181124 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181125 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181126 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181127 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181128 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181129 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181130 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181131 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181132 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181133 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181134 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181135 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181136 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181137 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181138 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00181139 - - - - - - - - - - - autism - - - 1 1 Yanjie Fan
00210054 RP PubMed: Vadgama 2019, Journal: Vadgama 2019 - M no - - - - - - autism - - CHD7, DPP6, RASD2 4 1 Nirmal Vadgama
00222799 NCH3 PubMed: Repnikova 2019 - F - United States - - - - - autism autism spectrum disorder, generalized anxiety disorder; mother: anxiety, depression CNTN6 CNTN6 1 1 Elena Repnikova
00223657 - PubMed: Bahl, 2013 Autism Spectrum Disorder (ASD) case; variant reported found in both parents and proband is clearly reported as heterozygous ? - - - - - - - autism - TSC1 TSC1 1 3 Rosemary Ekong
00224214 - PubMed: Bahl, 2013 Autism Spectrum Disorder (ASD) case; variant also found in father ? - - - - - - - autism - TSC1 TSC1 1 2 Rosemary Ekong
00224215 - PubMed: Bahl, 2013 Autism Spectrum Disorder (ASD) case; variant found in a parent and not in proband ? - - - - - - - autism - TSC1 TSC1 1 1 Rosemary Ekong
00228899 - - - - no Italy - - - - - autism - CNTNAP3, MCM2, TMEM135, TRAK2, UBA1 CNTNAP3, MCM2, TMEM135, TRAK2, UBA1 5 1 Gerarda Cappuccio
00229581 Fam2 - - M no New Zealand - - - Y - autism, EIG, ID Epilepsy, significant intellectual disability with non-verbal autism spectrum disorder (ASD), challenging behaviours. - ARX 1 6 Marie Shaw
00244473 #747 PubMed: Luce 2021 Patient carrying a discontinuous duplication M no Argentina - >08y - - - autism, DMD HP:0030235, HP:0008947. Now at age of 8y does not present hypotonia. DMD DMD 2 1 Florencia Giliberto
00265312 12211.p1 PubMed: ORoak 2012 - F ? - - ? - no - autism Global developmental delay HP:0001263 - - - 1 Dimitra Ilektra Lerou
00269306 - Journal: Kaminsky 2011 - - - United States - - - - - autism - SERPING1 SERPING1 1 1 Christian Drouet
00276587 11549 PubMed: Schaaf, 2011 patient has autism and a history of seizures, no FH of TSC and no TSC in the patient; unaffected parents and siblings tested and variant absent; probands and family members are from the Simons Simplex Collection that has clinical, neuropsychological and phenotypic data; control individuals had comprehensive online psychiatric questionnaire; variant reported absent in 376 controls ? - - - - - - - autism seizures TSC2 TSC2 1 1 Rosemary Ekong
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