NED with movement abnormalities, abnormal gait, and autistic features (NEDMAGA)
NED with behavioral abnormalities, absent speech, and hypotonia (NEDBASH)
NED with involuntary movement and abnormal electroencephalogram (NEDIMAE)
NED with hypotonia and autistic features with hyperkinetic movements (NEDHAHM)
NED with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB)
NED with hypotonia and dysmorphic facies (NEDHYDF)
NED with hyperkinetic movements and seizures (NDHMSR)
NED with language impairment and behavioral abnormalities (NEDLIB)
NED with seizures and gait abnormalities (NEDSGA)
NED with seizures, hypotonia, and brain abnormalities (NEDSHBA)
NED with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT)
NED with hypotonia, seizures, and absent language (NDHSAL)
NED with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA)
NED with hypotonia and brain abnormalities (NEDHYBA)
NED with dysmorphic facies, impaired speech and hypotonia (NEDDISH)

Syndromic neurodevelopmental disorder [DS:H02459]

Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschke P, Garrigue A, de Saint Basile G, Kivuva E, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Am J Hum Genet 101:995-1005 (2017)
DOI:10.1016/j.ajhg.2017.10.009

Tischfield DJ, Saraswat DK, Furash A, Fowler SC, Fuccillo MV, Anderson SA

Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.

Neurobiol Dis 103:174-183 (2017)
DOI:10.1016/j.nbd.2017.04.013

Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 105:1048-1056 (2019)
DOI:10.1016/j.ajhg.2019.09.025

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL

SYT1-associated neurodevelopmental disorder: a case series.

Brain 141:2576-2591 (2018)
DOI:10.1093/brain/awy209

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Am J Hum Genet 104:721-730 (2019)
DOI:10.1016/j.ajhg.2019.02.016

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Am J Hum Genet 105:283-301 (2019)
DOI:10.1016/j.ajhg.2019.06.016

Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.

Eur J Med Genet 63:103804 (2020)
DOI:10.1016/j.ejmg.2019.103804

Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

Eur J Med Genet 60:317-320 (2017)
DOI:10.1016/j.ejmg.2017.04.001

Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

Am J Hum Genet 101:1013-1020 (2017)
DOI:10.1016/j.ajhg.2017.11.004

Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Ann Clin Transl Neurol 7:610-627 (2020)
DOI:10.1002/acn3.51003

Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Am J Hum Genet 106:246-255 (2020)
DOI:10.1016/j.ajhg.2020.01.002

Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bonnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

J Med Genet 54:84-86 (2017)
DOI:10.1136/jmedgenet-2016-103943

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstadter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Hum Mutat 40:267-280 (2019)
DOI:10.1002/humu.23694

Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estevez R, Jentsch TJ, Pusch M, Agrawal PB

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Am J Hum Genet 108:1450-1465 (2021)
DOI:10.1016/j.ajhg.2021.06.003