NED with movement abnormalities or hypotonia [DS:H02397]
NED with dysmorphic facies [DS:H02535]
NED with microcephaly [DS:H02461]
NED with structural brain abnormalities [DS:H02470]
NED with absent language and variable seizures (NEDALVS)
NED with impaired intellectual development, hypotonia, and ataxia (NEDIDHA)
NED with impaired speech and hyperkinetic movements (NEDISHM)
NED with seizures and and speech and walking impairment (NEDSSWI)
NED with severe motor impairment and absent language (NEDMIAL)
NED with motor and speech delay and behavioral abnormalities (NEDMOSBA)
NED with seizures and gingival overgrowth (NEDSGO)
NED with early-onset generalized epilepsy (NEDEGE)
NED with speech delay and variable ocular anomalies (NEDSOA)
NED with language delay and behavioral abnormalities, with or without seizures (NEDLBAS)
NED with language delay and seizures (NEDLDS)
NED with poor growth and behavioral abnormalities (NEDGBA)
NED with language impairment, autism, and attention deficit-hyperactivity disorder (NEDLAAD)
NED plus optic atrophy (NEDOA)

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonca C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C, Boycott KM, Kernohan KD, Dyack S, Raymond FL

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 103:144-153 (2018)
DOI:10.1016/j.ajhg.2018.06.001

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

PLoS Genet 13:e1006923 (2017)
DOI:10.1371/journal.pgen.1006923

Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M

Variants in DOCK3 cause developmental delay and hypotonia.

Eur J Hum Genet 27:1225-1234 (2019)
DOI:10.1038/s41431-019-0397-2

Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havrankova P, Fecikova A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Genet Med 21:2532-2542 (2019)
DOI:10.1038/s41436-019-0523-0

Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Am J Hum Genet 104:287-298 (2019)
DOI:10.1016/j.ajhg.2018.12.017

Lessel D, Schob C, Kury S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogne B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bezieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Am J Hum Genet 102:196 (2018)
DOI:10.1016/j.ajhg.2017.12.016

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 10:3094 (2019)
DOI:10.1038/s41467-019-10910-w

Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

Orphanet J Rare Dis 13:80 (2018)
DOI:10.1186/s13023-018-0822-6

Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Genet Med 23:1246-1254 (2021)
DOI:10.1038/s41436-021-01133-w

Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Hum Mutat 41:1645-1661 (2020)
DOI:10.1002/humu.24071

Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S, Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Ann Neurol 84:788-795 (2018)
DOI:10.1002/ana.25350

Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O'Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bezieau S, Fu D, Isidor B, Cogne B, O'Connell MR

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

Am J Hum Genet 109:587-600 (2022)
DOI:10.1016/j.ajhg.2022.02.001

Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

J Med Genet 59:965-975 (2022)
DOI:10.1136/jmedgenet-2021-107751

Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.

Am J Hum Genet 109:571-586 (2022)
DOI:10.1016/j.ajhg.2022.01.020

Mattioli F, Darvish H, Paracha SA, Tafakhori A, Firouzabadi SG, Chapi M, Baig HMA, Reymond A, Antonarakis SE, Ansar M

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

NPJ Genom Med 6:94 (2021)
DOI:10.1038/s41525-021-00255-z

Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denomme-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Brain 146:534-548 (2023)
DOI:10.1093/brain/awac278

Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulic N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sorensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Am J Hum Genet 111:594-613 (2024)
DOI:10.1016/j.ajhg.2024.02.005