Disease #00139

Official abbreviation ID
Name intellectual disability (ID)
OMIM ID -
Individuals reported having this disease 576
Phenotype entries for this disease 481
Associated with 536 genes AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 516 more...AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG9, AMT, ANKH, ANKRD11, AP1S1, AP1S2, AP4B1, AP4E1, AP4S1, APTX, ARFGEF2, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARX, ASL, ASPA, ASPM, ASXL1, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATR, ATRX, AUH, B3GALNT2, B3GNT1, B4GALT1, B4GALT7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCOR, BCS1L, BRAF, BRAT1, BRWD3, BUB1B, C10orf2, C5orf42, CA8, CACNA1C, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCBE1, CCDC78, CCDC88C, CD96, CDC6, CDH15, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHD7, CHMP1A, CHUK, CLIC2, CNTNAP2, COG1, COG7, COG8, COL2A1, COL4A1, COL4A2, COLEC11, COQ2, COX15, COX7B, CRADD, CRBN, CREBBP, CTDP1, CTNNB1, CUL4B, CYB5R3, D2HGDH, DBT, DCAF17, DCX, DDHD2, DDX11, DHCR24, DHCR7, DHFR, DHTKD1, DIP2B, DIS3L2, DKC1, DLD, DLG3, DNAJC19, DNMT3B, DOCK6, DOCK8, DPAGT1, DPCD, DPM1, DPM2, DPYD, DYM, DYNC1H1, DYNC2H1, DYRK1A, EFTUD2, EHMT1, EIF2AK3, ELOVL4, EMX2, EP300, EPB41L1, EPG5, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ESCO2, ETHE1, EVC, EVC2, EYA1, EZH2, FAM20C, FANCD2, FARS2, FGD1, FGFR1, FGFR2, FGFR3, FKRP, FKTN, FLNA, FLNB, FOXG1, FOXP1, FOXRED1, FRAS1, FREM2, FTO, FTSJ1, FUCA1, GAD1, GALE, GALT, GAMT, GATAD2B, GATM, GCH1, GCSH, GDI1, GFAP, GJC2, GLDC, GLI3, GMPPB, GNAS, GNPAT, GNS, GPC3, GPHN, GPR56, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GSS, GTF2H5, GUSB, HCCS, HCFC1, HDAC4, HDAC8, HEPACAM, HESX1, HLCS, HOXA1, HPD, HRAS, HSD17B10, HSD17B4, IDS, IDUA, IER3IP1, IGBP1, IGF1, IKBKG, IL1RAPL1, INPP5E, IQSEC2, ISPD, JAG1, JAM3, KANSL1, KAT6B, KCNJ1, KCNJ10, KCNK9, KCNQ1OT1, KCNQ2, KCNT1, KCTD7, KDM5C, KDM6A, KIAA1279, KIF11, KIF7, KIRREL3, KMT2D, KPTN, KRAS, L1CAM, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE, LARP7, LIG4, LRP2, LRPPRC, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASP1, MBD5, MBTPS2, MCCC1, MCOLN1, MCPH1, MECP2, MED12, MED17, MED23, MEF2C, MEGF8, MGAT2, MICU1, MID1, MIR17HG, MKKS, MKS1, MLYCD, MMAA, MMACHC, MMADHC, MNX1, MOCS1, MOCS2, MPDU1, MRPS22, MTR, MTRR, MUT, MVK, MYCN, MYO5A, NAGA, NAGLU, NBN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, NIPBL, NLGN4X, NPHP1, NRAS, NRXN1, NSD1, NSDHL, NSUN2, OCLN, OCRL, OFD1, OPHN1, ORC1, PACS1, PAFAH1B1, PAK3, PANK2, PAX6, PC, PCDH19, PCNT, PDHA1, PEX1, PEX10, PEX11B, PEX13, PEX26, PEX5, PEX7, PGK1, PHF6, PHF8, PHGDH, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, PLA2G6, PLCB1, PLCB4, PLP1, PMM2, PNKP, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PQBP1, PRPS1, PRSS12, PTCHD1, PTPN11, PVRL1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAD50, RAF1, RAI1, RARS2, RBBP8, RBM28, RBM8A, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, ROR2, RPGRIP1L, RPS6KA3, SALL1, SALL4, SATB2, SC5D, SCO2, SDHA, SERAC1, SETBP1, SH3PXD2B, SHANK3, SHH, SHOC2, SHROOM4, SIL1, SIX3, SIX5, SKI, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC25A15, SLC2A1, SLC2A2, SLC33A1, SLC35C1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMOC1, SMPD1, SMS, SNAP29, SOBP, SOS1, SOX10, SOX3, SPRED1, SRCAP, SRD5A3, SRPX2, ST3GAL3, STIL, STRA6, STXBP1, SUCLA2, SUOX, SURF1, SYNGAP1, SYP, SYT14, TAT, TBC1D24, TBCE, TBX5, TCF4, TCOF1, TECR, TFAP2A, TFAP2B, TGIF1, TMCO1, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TRAPPC9, TREX1, TRIM32, TSC1, TSC2, TSPAN7, TTC8, TUBA1A, TUBB2B, TUSC3, TWIST1, UBE2A, UBE3A, UBE3B, UBR1, UPB1, UPF3B, VLDLR, VPS13B, WDR35, WDR45, WDR62, WDR81, WNT5A, WNT7A, XPA, ZBTB16, ZBTB24, ZDHHC9, ZEB2, ZIC2, ZNF335, ZNF41, ZNF592, ZNF673, ZNF674, ZNF711, ZNF81
Associated tissues -
Disease features -
Remarks -


Individuals

576 entries on 6 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Data_av     

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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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00001234 - PubMed: Schaaf 2013 - M no United States Caucasian - 0 - - ID autism spectrum disorder MAGEL2 MAGEL2 1 1 Christian Schaaf
00001608 - PubMed: Schaaf 2013 - M - United States Hispanic - 0 - - autism, ID Prader Willi Syndrome, neonatal hypotonia, feeding difficulties, excessive weight gain during childhood, hyperphagia, hypogonadism, sleep apnea MAGEL2 MAGEL2 1 1 Christian Schaaf
00001609 - PubMed: Schaaf 2013 - M - United States Caucasian - 0 - - ID Feeding problems in infancy, excessive weight gain during early childhood, hypogonadism, abnormal behaviors, short stature, contractures of the proximal and distal interphalangeal joints. MAGEL2 MAGEL2 1 1 Christian Schaaf
00001610 - PubMed: Schaaf 2013 - M - United States Hispanic - 0 - - ID Neonatal hypotonia, feeding problems, lack of satiety, intellectual disability, autism spectrum disorder, small hands, narrow hands, abnormal behaviors, skin picking, sleep apnea, contractures of the proximal and distal interphalangeal joints. MAGEL2 MAGEL2 1 1 Christian Schaaf
00002413 - - early-onset epileptic encephalopathy F no Japan - - 0 - - ID early-onset epileptic encephalopathy - SLC35A2 1 1 Hirotomo Saitsu
00002414 - - - F no Japan - - 0 - - ID early-onset epileptic encephalopathy - SLC35A2 1 1 Hirotomo Saitsu
00002415 - - early-onset epileptic encephalopathy F no Japan - - 0 - - ID early-onset West syndrome SLC35A2 SLC35A2 1 1 Hirotomo Saitsu
00003059 - Larti et al., submitted - M yes Iran - - 0 - - ID complete azospermia, strabismus - CLIP1 1 5 Farzaneh Larti
00004117 - - - M no Italy Caucasian - 0 - - ID agenesis of corpus callosum, aplasia/hypoplasia of the cerebellum, microcephaly, ichthyosis PAK3 PAK3 1 1 Pamela Magini
00011649 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carreir parents F yes Israel Iaraeli;Arab - 0 - - ID sever ID; normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, no drooling, wheelchair bound, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently AP4B1 AP4B1 1 1 Johan den Dunnen
00011650 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents F yes Israel Iaraeli;Arab - 0 - - ID severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, no Babinski sign, spasticity, no drooling, ambulant, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently AP4B1 AP4B1 1 1 Johan den Dunnen
00011651 - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents M yes Israel Iaraeli;Arab - 0 - - ID severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, wheelchair bound, no foot deformity, head circumference -3SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, normal weight; 2.5y walk independently AP4B1 AP4B1 1 1 Johan den Dunnen
00011652 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents M yes Syria - - 0 - - ID severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -1SD, height 145cm, no epilepsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently AP4S1, SLC22A17 AP4S1, SLC22A17 2 1 Johan den Dunnen
00011653 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents F yes Syria - - 0 - - ID severe ID; no normal speech, stereotypic laughter, shy character, progressing to hypertonia, no spasticity, drooling, not ambulant, foot deformity, head circumference -4SD, height 130cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently AP4S1, SLC22A17 AP4S1, SLC22A17 2 1 Johan den Dunnen
00011654 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents M yes Syria - - 0 - - ID severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -2SD, height 140cm, no epilipsy, sphincter control, amblyopia, normal hearing, no overweight; 2.5y walk independently AP4S1, SLC22A17 AP4S1, SLC22A17 2 1 Johan den Dunnen
00011655 - PubMed: Abou Jamra 2011 3-generation family, 2 affecteds, unaffacted carrier parents M yes Syria - - 0 - - ID severe ID; no normal speech, no stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -3SD, height 125cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight AP4E1 AP4E1 1 1 Johan den Dunnen
00011656 - - 3-generation family, 2 affecteds, unaffected carrier parents F yes Syria - - 0 - - ID severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -4SD, height 105cm, epilepsy, no sphincter control, normal eye, normal hearing, no overweight AP4E1 AP4E1 1 1 Johan den Dunnen
00011657 - PubMed: Abou Jamra 2011 family ? yes Syria - - 0 - - ID - AP4E1 AP4E1 1 1 Johan den Dunnen
00011659 - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents F yes Jordan Palestine - 0 - - ID severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing - AP4E1, DCAF13P3, SPPL2A 1 1 Johan den Dunnen
00011660 - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents M yes Jordan Palestine - 0 - - ID severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing - AP4E1, DCAF13P3, SPPL2A 3 1 Johan den Dunnen
00016126 - PubMed: Soler-Alfonso 2014 3-generation family, affected twin III.2 M no United States Caucasian >10y 0 - - ID autism spectrum disorder, anxiety disorder, dysthymia, borderline intellectual functioning (IQ 75) CHRNA7 CHRNA7 1 1 Christian Schaaf
00016306 - - family, 2 affected brothers M yes Palestine Palestinian - 0 - - ID cranio-lenticulo-sutural dysplasia (CLSD) and congenital disorders of glycosylation (CDG)-II MAN1B1, MUM1L1, NUP214, SASH3, SEC23A MAN1B1, MUM1L1, NUP214, SASH3, SEC23A 5 2 Swati Gupta
00016308 - - - F no Germany - - 0 - - ID - NGB SETD5 1 1 Alexander Zink
00016309 - - - F - - - - 0 - - ID - - SETD5 1 1 Alexander Zink
00016365 - - patient 1 (Gea Beunders, et al., 2014) M no Netherlands Caucasian >24y 0 - - ID low birth weight <p3 microcephaly <p2 feeding difficulties Neurodevelopmental disorders intellectual disability/ development delay autism/autistic behavior sound sensitivity hyperactivity/ ADHD ptosis prominent nasal tip short filtrum micrognatia ABI2, AUTS2 ABI2, AUTS2 2 1 Gea Beunders
00016366 - - proband 2 in Beunders et al. 2014 M no Belgium caucasian >20y 0 20y - ID - AUTS2 AUTS2 1 1 Gea Beunders
00016656 - PubMed: Vulto van Silfhout 2014 - M ? ? (unknown) Unknown - 0 - - ID mild motor delay, no speech, severe ID, poor eyecontact, behavioral problems, autism, mood swings, fascinations, high pain threshold, abnormal walking pattern, thin and fair hair, straight eyebrows, full nasal tip, full lower lip, prominent chin, upslant, epicantic folds, fetal finger pads, Skin syndactyly in toes 2 and 3, Hyperlaxity, Recurrent infections in childhood, scrotal raphe, flat feet DEAF1 DEAF1 1 1 Marianne Vos (LOVD-team)
00016662 - PubMed: Vulto van Silfhout 2014 - F ? ? (unknown) Unknown - 0 - - ID - DEAF1 DEAF1 1 1 Marianne Vos (LOVD-team)
00016841 - - - - - - - - 0 - - ID - ATRX ATRX 1 2 Andreas Tzschach
00016842 - - - M no - - - 0 - - ID intellectual disability ATRX ATRX 1 1 Andreas Tzschach
00016889 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected non-carrier parents M ? France (France) - 0 - - ID 21m: developmental delay, aggressive behavior and hypotonia. Other features included relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation and hyperextensibility of joints and skin. USP9X USP9X 1 1 Marianne Vos (LOVD-team)
00016890 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother M ? United States - - 0 - - ID Prenatally: a raised maternal serum alpha-fetoprotein, intrauterine growth restriction, and an ectopic left kidney. Postnatally: feeding difficulties, hypotonia, tracheomalacia, gastro-esophageal reflux disease and developmental delay with speech development most affected. Broad thumbs, curving toe nails and short stature. 9y: ID (nonverbal, speech having regressed at 3y), obsessive and autistic behaviors, elevated testosterone and decreased, cholesterol levels, short stature USP9X ARID1B, USP9X 2 1 Marianne Vos (LOVD-team)
00016891 - PubMed: Homan 2014 2-generation family, 2 affected halfbrothers/uncle, unaffected heterozygous carrier mother/grandmother M ? United Kingdom (Great Britain) (British) - 0 - - ID 3/3 mild/moderate ID, 1/3 obessiveness, 1/3 autism, 3/3 hypotonia, USP9X USP9X 1 3 Marianne Vos (LOVD-team)
00016925 - - - M - - - - 0 - - ID - ATRX ATRX 1 1 Andreas Tzschach
00016948 - PubMed: Popp 2015, Journal: Popp 2015 - F no Germany Europe >02y11m 0 - - ID postnatal growth failure; severe developmental delay; long curved eyelashes, thin arched eyebrows, broad nasal bridge, thin arched upper lip;delayed closure of the fontanels, delayed bone age, broad great toes, mild pectus carinatum; pulmonary artery stenosis, atrial septal defect, prolonged QT interval; truncal hypotonia, hypertonia of extremities; MRI brain borderline normal ventricle; self-hugging, repetitive hand movements; no genital abnormalities NAA10 NAA10 1 1 Bernt Popp
00016949 - PubMed: Popp 2015, Journal: Popp 2015 - M no Switzerland - >05y11m 0 - - ID postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features NAA10 NAA10 1 1 Bernt Popp
00017033 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France European - 0 - - ID, NPHP severe renal involvement progressing to ESRD <5y; mild intellectual disability, strabismus, hepatic cytolysis, cholestasis CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017034 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - 0 - - ID, NPHP severe renal involvement progressing to ESRD <5y; speech delay, hydrocephalus; age ESDR 4,5y CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017035 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected parents F no ? (unknown) European - 0 - - ID, NPHP - CEP83 CEP83 1 1 Marianne Vos (LOVD-team)
00017036 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - 0 - - ID, NPHP neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y CEP83 CEP83 3 1 Marianne Vos (LOVD-team)
00017037 - PubMed: Failler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents, brothers II1/II2 M no France;Poland European - 0 - - ID, NPHP severe renal involvement progressing to ESRD <5y (II1); high blood pressure CEP83 CEP83 2 2 Marianne Vos (LOVD-team)
00017038 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes (Turkey) Turkish - 0 - - ID, NPHP prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis CEP83 CEP83 1 1 Marianne Vos (LOVD-team)
00017039 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no ? (unknown) latino - 0 - - HYDRO, ID, NPHP prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability, hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX) CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017830 - PubMed: Endele 2010 - M no Germany - - 0 - - ID see paper; moderate mental retaration, no seizures, EEG irregular slow dysrhythmia, behavioral anomalies, no MRI scan anomalies, no eye anomalies, no other anomalies GRIN2B GRIN2B 2 1 Johan den Dunnen
00017831 - PubMed: Endele 2010 - F no Germany - - 0 - - ID see paper; moderate mental retardation, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies, MRI scan not performed, no facial dysmorphism, no eye anomalies, no other anomalies GRIN2B GRIN2B 1 1 Johan den Dunnen
00017832 - PubMed: Endele 2010 - M no Germany - - 0 - - ID see paper; no microcephaly, moderate mental retardation, no seizures, no EEG anomalies, behavioral anomalies, no MRI scan anomalies, no facila dysmorphism, no eye anomalies, no other abnormalities GRIN2B GRIN2B 1 1 Johan den Dunnen
00017833 - PubMed: Endele 2010 - F no ? (unknown) European - 0 - - ID see paper; mild mental retardation, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies, no MRI scan performed, no facial dysmorphism, no eye anomalies, hypothyroidism GRIN2B GRIN2B 2 1 Johan den Dunnen
00017834 - PubMed: Endele 2010 3-generation family, 3 affecteds (son, mother, grandmother) M no Germany - - 0 - - ID see paper; learning difficulties, mild/moderate mental retardation, EEG anomalies, childhood seizures, etc. GRIN2A GRIN2A 2 3 Johan den Dunnen
00017835 - PubMed: Endele 2010 - F no France - - 0 - - ID see paper; severe mental retardation, 3m-first seizure; epileptic spasms, myoclonies/frequent massive myoclonies until present; EEG anomalies slowing, bilateral independent posterior spikes, behavioral anomalies; muscle hypotonia; no MRI anomalies; no facial dysmorphism GRIN2A GRIN2A 1 1 Johan den Dunnen
00017841 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother M no ? (unknown) - - 0 - - ID see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round face, neurological examination normal; PatIII2 (female, 10y) ID needing special care IL1RAPL1 IL1RAPL1 1 3 Pierre Billuart
00017846 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 2-generation family, affected male, carrier mother/sister M no ? (unknown) - - 0 - - ID see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties IL1RAPL1 IL1RAPL1, ZNF528 2 1 Pierre Billuart
00017851 - PubMed: Tarpey 2009; PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 2-generation family, 2 affected males, carrier mother M no (France) - - 0 - - ID see paper; PatII1 (deceased) moderate ID (IQ 36–51), gynecomastia, obesity, small testes, normal height (169 cm)/head circumference (54.5 cm), sexual deviant behavior (treated with anti-androgen medication and necessitating living in care); PatII2 (57y) mild ID, obesity, significant behavioral issues, normal head circumference, normal facial features, gynecomastia, normal hands and feet; mother I-2 phenotypically normal, normal height (153 cm)/head circumference (54.2 cm), low average intelligence IL1RAPL1 IL1RAPL1 1 2 Pierre Billuart
00019836 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - C15orf40, RB1, SSPO, USP42 C15orf40, RB1, SSPO, USP42 4 1 Marianne Vos (LOVD-team)
00019837 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - CNGA3, CXXC11 CNGA3, CXXC11 3 1 Marianne Vos (LOVD-team)
00019838 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - CDC5L, POP1, WWP2 CDC5L, CLRN3, POP1 3 1 Marianne Vos (LOVD-team)
00019839 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID developmental delay, no major dysmorphisms, no ocular anomalies, no pituitary deficiency CLRN3, OSBPL9, OTX2, TBR1, YTHDC1 CLRN3, OSBPL9, OTX2, TBR1, YTHDC1 5 1 Marianne Vos (LOVD-team)
00019840 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - CNOT1 CNOT1 1 1 Marianne Vos (LOVD-team)
00019841 - PubMed: Gilissen 2014 - F ? ? (unknown) - - 0 - - ID ID from infancy, regression at adult age; shows parkinsonism and dystonia CARD8, ELP2, WDR45 CARD8, ELP2, WDR45 3 1 Marianne Vos (LOVD-team)
00019858 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - LIPI, MFAP3 LIPI, MFAP3 2 1 Marianne Vos (LOVD-team)
00019859 - PubMed: Gilissen 2014 - F ? ? (unknown) - - 0 - - ID Severe ID with epilepsy. No speech. Short stature, microcephaly and enlarged ventricles and hypertrophy of the cerebellar vermis. Hypotonia, cleft palate, cataract, scoliosis and stereotypic movements. Dysmorphic features included a low frontal-temporal hairline, deep-set eyes, a flat midface, long narrow ears, a long nose with a high bridge, a short philtrum, an everted lower lip and a prominent jaw. In addition, she had scoliosis, short narrow hands, tapered fingers and several contractures. FHDC1, FHOD1, SMC1A, ZNF566 FHDC1, FHOD1, SMC1A, ZNF566 4 1 Marianne Vos (LOVD-team)
00019860 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - GPR52 GPR52 1 1 Marianne Vos (LOVD-team)
00019861 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID neonatal feeding problems, hip dysplasia, ID (IQ 50), autism, epicanthic folds, straight eyebrows, posteriorly rotated ears and downturned corners of the mouth; MRI of brain not available; no epilepsy DSP, PTPN21, SPTAN1 DSP, PTPN21, SPTAN1 3 1 Marianne Vos (LOVD-team)
00019862 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - PI4K2B ASUN, PI4K2B 2 1 Marianne Vos (LOVD-team)
00019863 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - TBKBP1 TBKBP1 1 1 Marianne Vos (LOVD-team)
00019864 - PubMed: Gilissen 2014, PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F ? Netherlands - - 0 - - ID see paper; ... SON SON 1 1 Marianne Vos (LOVD-team)
00019865 - - - F no Italy Caucasian >08y 0 - - ID Hypotonia, cleft palate, acute lymphoblastic leukemia, hearing loss MED13L MED13L 1 1 Giuseppe Marangi
00019867 - - - F no Italy Caucasian >03y 0 - - CHD, ID Developmental delay, esotropia, Open foramen ovale MED13L MED13L 1 1 Giuseppe Marangi
00019868 - - - F no United States African american, mexican, philippino >12y 0 - - ID Moderate ID, seizures, brain anomalies, macrocephaly MED13L MED13L 1 1 Giuseppe Marangi
00019869 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis. ALG13, CBLB, KRT32, RAI1 ALG13, CBLB, KRT32, RAI1 4 1 Marianne Vos (LOVD-team)
00019870 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand HADHA, MED13L HADHA, MED13L 2 1 Marianne Vos (LOVD-team)
00019886 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - POLQ, ZNF831 POLQ, ZNF831 2 1 Marianne Vos (LOVD-team)
00019887 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - BRD3, SEZ6, TNIP3 BRD3, SEZ6, TNIP3 3 1 Marianne Vos (LOVD-team)
00019888 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID moderate-severe ID, primary macrocephaly, hearing loss due to otitis media. Strabismus. Autism, ADHD. Frontal bossing, deep-set eyes. Four teeth at 11 months of age. SATB2 SATB2 1 1 Marianne Vos (LOVD-team)
00019889 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID ID (dyshormonic profile; performal IQ 50, verbal 90), hypotonia, no facial dysmorphisms, progressive scoliosis, hip dysplasia, fatigue problems. ELMO2, PPP2R5D ELMO2, PPP2R5D 2 1 Marianne Vos (LOVD-team)
00019890 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID Severe ID. Epilepsy (tonic-clonic seizures), myokymia. Normal height, head circumference -2 SD. Broad based walking pattern. Narrow long face, prominent supraorbital ridges, long nose and philtrum, thin upper lip, hypodontia, long fingers and toes and narrow thorax. CATSPERB, KCNA1, SPACA7 CATSPERB, KCNA1, SPACA7 3 1 Marianne Vos (LOVD-team)
00019891 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID ID, no major dysmorphisms, no epilepsy, sleep disturbances, obsessive behaviour DOK4, SCN2A DOK4 2 1 Marianne Vos (LOVD-team)
00019892 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - USP8 USP8 1 1 Marianne Vos (LOVD-team)
00019893 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - MAST1, NEK1 MAST1, NEK1 2 1 Marianne Vos (LOVD-team)
00019894 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - PNLIPRP1 PNLIPRP1 1 1 Marianne Vos (LOVD-team)
00019895 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - CDC34, FAM46B CDC34, FAM46B 2 1 Marianne Vos (LOVD-team)
00019896 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - APPL2, SMAD6, ZNF423 APPL2, SMAD6, ZNF423 3 1 Marianne Vos (LOVD-team)
00019897 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - ATP7B, CEP170B ATP7B, CEP170B 2 1 Marianne Vos (LOVD-team)
00019898 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - PIAS1 PIAS1 5 1 Marianne Vos (LOVD-team)
00019899 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - GIPC2 GIPC2 1 1 Marianne Vos (LOVD-team)
00019900 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - EFS EFS 1 1 Marianne Vos (LOVD-team)
00019901 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features. PCCB, STAG1, ZFYVE16 PCCB, STAG1, ZFYVE16 5 1 Marianne Vos (LOVD-team)
00019906 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - CLSTN3, NACC1 CLSTN3, NACC1 2 1 Marianne Vos (LOVD-team)
00019907 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - HIVEP2 HIVEP2 1 1 Marianne Vos (LOVD-team)
00019908 - PubMed: Gilissen 2014, PubMed: Stessman 2016, Journal: Stessman 2016 - M ? Netherlands - - 0 - - ID microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513) CFAP61, EYA4, POGZ EYA4, POGZ 3 1 Marianne Vos (LOVD-team)
00019909 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - RBL2 RBL2 1 1 Marianne Vos (LOVD-team)
00019910 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID severe hypotonia, severe motor delay and speech delay, deficient gyration frontal region, mild periventricular white matter abnormalities CREBL2, TBR1 CREBL2, TBR1 2 1 Marianne Vos (LOVD-team)
00019911 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - ABCC8 ABCC8 1 1 Marianne Vos (LOVD-team)
00019912 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID severe ID, severe epilepsy, Rett-like phenotype, motor handicap, severe feeding difficulties, progressive scoliosis EPHB1, SMC1A, UCP1 EPHB1, SMC1A, UCP1 3 1 Marianne Vos (LOVD-team)
00019913 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - BMP8B, KANSL2 BMP8B, ERV3-1, KANSL2 3 1 Marianne Vos (LOVD-team)
00019920 - - - F no Italy Caucasian >04y 0 - - ID Developmental delay, absent speech, EEG anomalies, hypotonia, esotropia, hypertrichosis SYT1 SYT1 1 1 Giuseppe Marangi
00022445 - - - - - Iran - - 0 - - ID intellectual disability, minor dysmorphisms TRMT1 TRMT1 1 1 Behzad Davarnia
00024123 - submitted - M yes Iran;(Iran) Caucasian - 0 - - ID Ataxia gait, nystagmus, ... GRM1 GRM1 1 1 Behzad Davarnia
00024233 - PubMed: Gilissen 2014 - - - - - - 0 - - ID severe ID, signs of autism, aggressive behavior, 2 café au lait spots, increased pain threshold ACR, SHANK3 ACR, SHANK3 1 1 Johan den Dunnen
00024234 - PubMed: Gilissen 2014 - - - - - 16y 0 - - ID, RTT , severe ID, epilepsy, cerebral atrophy without structural defects, short stature, head circumference -2 SD, hypotonic appearance, mild upslanting palpebral fissures, prominent philtrum; 16y-sudden unexplained death MECP2 MECP2 1 1 Johan den Dunnen
00024235 - PubMed: Gilissen 2014 - - - - - - 0 - - COH-1, ID , ID without speech, autism, hypotonia, recurrent infection, sleep disturbances, delayed puberty and obesitas, short stature and microcephaly, deep set eyes, hypertelorism, large ears, large nose, short philtrum, full lips. Kyphosis, narrow hands with tapering fingers, partial cutaneous syndactyly of 2nd and 3rd toes and sandal gaps. No ophthalmologic anomalies. VPS13B VPS13B 2 1 Johan den Dunnen
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