KEGG   DISEASE: Syndromic intellectual developmental disorder
Entry
H02463                      Disease                                
Name
Syndromic intellectual developmental disorder
  Subgroup
IDD with short stature [DS:H02346]
IDD with autism and speech delay [DS:H02371]
IDD and retinitis pigmentosa (IDDRP)
IDD with cardiac arrhythmia (IDDCA)
IDD with cardiac defects and dysmorphic facies (IDDCDF)
IDD with dysmorphic facies and ptosis (IDDFP)
IDD with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA)
IDD with persistence of fetal hemoglobin (DILOS)
IDD with behavioral abnormalities, craniofacial dysmorphism and seizures (IDDBCS)
IDD with dysmorphic facies and behavioral abnormalities (IDDFBA)
IDD with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF)
IDD with hypertelorism and distinctive facies (IDDHDF)
IDD with hypotonia and behavioral abnormalities (IDDHBA)
IDD with impaired language and dysmorphic facies (IDDILF)
IDD with macrocephaly, seizures, and speech delay (IDDMSSD)
IDD with nasal speech, dysmorphic facies, and skeletal anomalies (IDNADFS)
IDD with neuropsychiatric features (IDDNPF)
IDD with epilepsy or cerebellar ataxia (IDDECA)
IDD with seizures and language delay (IDDSELD)
IDD with severe speech and ambulation defects (IDDSSAD)
IDD with dysmorphic facies, speech delay, and T-cell abnormalities (IDDFSTA)
Facial dysmorphism, hypertrichosis, epilepsy, IDD, and gingival overgrowth (FHEIG)
Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA)
Developmental delay, intellectual disability, obesity, and dysmorphism (DIDOD)
Hypotonia, hypoventilation, IDD, dysautonomia, epilepsy, and eye abnormalities (HIDEA)
IDD with poor growth and seizures or ataxia (IDPOGSA)
IDD with hypotonia, impaired speech, and dysmorphic facies (IDDHISD)
IDD with paroxysmal dyskinesia or seizures (IDDPADS)
IDD with speech delay and axonal peripheral neuropathy (IDDSAPN)
Chopra-Amiel-Gordon syndrome (CAGS)
Developmental delay with intellectual impairment or behavioral abnormalities (DDIB)
Description
Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital anomalies. Several underlying genetic causes of these disorders have been identified.
Category
Mental and behavioural disorder
Brite
Human diseases [BR:br08402]
 Other diseases
  Mental and behavioural disorders
   H02463  Syndromic intellectual developmental disorder
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H02463  Syndromic intellectual developmental disorder
Related
pathway
hsa03018  RNA degradation
hsa04062  Chemokine signaling pathway
hsa04014  Ras signaling pathway
Gene
(IDDRP) SCAPER [HSA:49855] [KO:K24869]
(IDDCA) GNB5 [HSA:10681] [KO:K04539]
(IDDCDF) TMEM94 [HSA:9772] [KO:K25291]
(IDDFP) BRPF1 [HSA:7862] [KO:K11348]
(IDDFSDA) OTUD6B [HSA:51633] [KO:K18342]
(IDDGIP) PPM1D [HSA:8493] [KO:K10147]
(DILOS) BCL11A [HSA:53335] [KO:K22045]
(IDDBCS) PHF21A [HSA:51317] [KO:K24651]
(IDDFBA) FBXO11 [HSA:80204] [KO:K10297]
(IDDEBF) ALG14 [HSA:199857] [KO:K07441]
(IDDHDF) CCNK [HSA:8812] [KO:K23326]
(IDDHBA) CDK8 [HSA:1024] [KO:K02208]
(IDDILF) DDX6 [HSA:1656] [KO:K12614]
(IDDMSSD) PAK1 [HSA:5058] [KO:K04409]
(IDNADFS) CNOT2 [HSA:4848] [KO:K12605]
(IDDNPF) SLC45A1 [HSA:50651] [KO:K15378]
(IDDECA) RORA [HSA:6095] [KO:K08532]
(IDDSELD) SETD1B [HSA:23067] [KO:K11422]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDSSAD) ACTL6B [HSA:51412] [KO:K11652]
(IDDFSTA) BCL11B [HSA:64919] [KO:K22046]
(FHEIG) KCNK4 [HSA:50801] [KO:K04915]
(DDVIBA) TCF20 [HSA:6942] [KO:K24769]
(DIDOD) PHIP [HSA:55023] [KO:K11797]
(HIDEA) P4HTM [HSA:54681] [KO:K06711]
(IDPOGSA) ABCA2 [HSA:20] [KO:K05642]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDPADS) PDE2A [HSA:5138] [KO:K18283]
(IDDSAPN) NEMF [HSA:9147] [KO:K24971]
(CAGS) ANKRD17 [HSA:26057] [KO:K16726]
(DDIB) TAOK1 [HSA:57551] [KO:K04429]
Other DBs
ICD-11: 6A00
ICD-10: F78.9
MeSH: D008607
OMIM: 618195 617173 618316 617333 617452 617450 617101 618725 618089 619031 618147 618748 618653 618158 618608 617532 618060 619000 618470 618092 618381 618430 617991 618493 618808 619556 619150 619099 619504 619575
Reference
  Authors
Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T
  Title
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
  Journal
J Med Genet 54:698-704 (2017)
DOI:10.1136/jmedgenet-2017-104632
Reference
  Authors
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
  Title
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
  Journal
Am J Hum Genet 99:704-710 (2016)
DOI:10.1016/j.ajhg.2016.06.025
Reference
  Authors
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV
  Title
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
  Journal
Am J Hum Genet 103:948-967 (2018)
DOI:10.1016/j.ajhg.2018.11.001
Reference
  Authors
Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A
  Title
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
  Journal
Am J Hum Genet 100:105-116 (2017)
DOI:10.1016/j.ajhg.2016.11.010
Reference
  Authors
Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogne B, Kury S, Besnard T, Isidor B, Bezieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA
  Title
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
  Journal
Am J Hum Genet 100:676-688 (2017)
DOI:10.1016/j.ajhg.2017.03.001
Reference
  Authors
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Lord CJ, Vissers LE, de Vries BB
  Title
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
  Journal
Am J Hum Genet 100:650-658 (2017)
DOI:10.1016/j.ajhg.2017.02.005
Reference
  Authors
Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW
  Title
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
  Journal
Am J Hum Genet 99:253-74 (2016)
DOI:10.1016/j.ajhg.2016.05.030
Reference
  Authors
Kim HG, Rosenfeld JA, Scott DA, Benedicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Ruschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH
  Title
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
  Journal
Mol Autism 10:35 (2019)
DOI:10.1186/s13229-019-0286-0
Reference
  Authors
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogne B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, Reis A, Sticht H, Zweier C
  Title
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
  Journal
Am J Hum Genet 103:305-316 (2018)
DOI:10.1016/j.ajhg.2018.07.003
Reference
  Authors
Blazek D, Kohoutek J, Bartholomeeusen K, Johansen E, Hulinkova P, Luo Z, Cimermancic P, Ule J, Peterlin BM
  Title
The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.
  Journal
Genes Dev 25:2158-72 (2011)
DOI:10.1101/gad.16962311
Reference
  Authors
Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM
  Title
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
  Journal
Am J Hum Genet 104:709-720 (2019)
DOI:10.1016/j.ajhg.2019.02.006
Reference
  Authors
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A
  Title
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
  Journal
Am J Hum Genet 105:509-525 (2019)
DOI:10.1016/j.ajhg.2019.07.010
Reference
  Authors
Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL
  Title
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
  Journal
Am J Hum Genet 100:824-830 (2017)
DOI:10.1016/j.ajhg.2017.03.009
Reference
  Authors
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Ounap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carre W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogne B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bezieau S, Koenig M, Davis EE, Pasquier L, Kury S
  Title
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
  Journal
Am J Hum Genet 102:744-759 (2018)
DOI:10.1016/j.ajhg.2018.02.021
Reference
  Authors
Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM
  Title
A genome-wide DNA methylation signature for SETD1B-related syndrome.
  Journal
Clin Epigenetics 11:156 (2019)
DOI:10.1186/s13148-019-0749-3
Reference
  Authors
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM
  Title
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
  Journal
Am J Hum Genet 104:815-834 (2019)
DOI:10.1016/j.ajhg.2019.03.022
Reference
  Authors
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Ludecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C
  Title
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
  Journal
Brain 141:2299-2311 (2018)
DOI:10.1093/brain/awy173
Reference
  Authors
Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M
  Title
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
  Journal
Am J Hum Genet 103:621-630 (2018)
DOI:10.1016/j.ajhg.2018.09.001
Reference
  Authors
Schafgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiss M, Aretz S, Strom TM, Wieczorek D, Engels H
  Title
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
  Journal
Eur J Hum Genet 24:1739-1745 (2016)
DOI:10.1038/ejhg.2016.90
Reference
  Authors
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA
  Title
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
  Journal
Eur J Hum Genet 26:54-63 (2018)
DOI:10.1038/s41431-017-0039-5
Reference
  Authors
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Vaisanen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J
  Title
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
  Journal
Genet Med 21:2355-2363 (2019)
DOI:10.1038/s41436-019-0503-4
Reference
  Authors
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS
  Title
Autozygome and high throughput confirmation of disease genes candidacy.
  Journal
Genet Med 21:736-742 (2019)
DOI:10.1038/s41436-018-0138-x
Reference
  Authors
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Wangler MF, Yamamoto S, Bellen HJ, Tan QK
  Title
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
  Journal
Am J Hum Genet 108:1669-1691 (2021)
DOI:10.1016/j.ajhg.2021.06.019
Reference
  Authors
Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bar S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G
  Title
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
  Journal
Eur J Hum Genet 28:1403-1413 (2020)
DOI:10.1038/s41431-020-0641-9
Reference
  Authors
Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z
  Title
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
  Journal
Hum Genet 140:579-592 (2021)
DOI:10.1007/s00439-020-02226-3
Reference
  Authors
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortum F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernandez-Jaen A, Pelayo JP, Klockner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT
  Title
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
  Journal
Am J Hum Genet 108:1138-1150 (2021)
DOI:10.1016/j.ajhg.2021.04.007
Reference
  Authors
Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla OL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K
  Title
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
  Journal
Am J Hum Genet 105:213-220 (2019)
DOI:10.1016/j.ajhg.2019.05.005
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