Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN)
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA)
Developmental delay with variable neurologic and brain abnormalities (DENBA)
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures (DEDISB)
Developmental delay, hypotonia, and impaired language (DEDHIL)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP)
Developmental delay, language impairment, and ocular abnormalities (DEVLO)
Developmental delay with hypotonia, myopathy, and brain abnormalities (DEDHMB)
Diabetes, deafness, developmental delay, and short stature syndrome (DDDS)
Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA)
Developmental delay, intellectual disability, obesity, and dysmorphism (DIDOD)
Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB)
Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB)

Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Am J Hum Genet 107:352-363 (2020)
DOI:10.1016/j.ajhg.2020.06.013

Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Nat Genet 53:1006-1021 (2021)
DOI:10.1038/s41588-021-00886-z

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Ounap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Miguez M, Ritter A, Bhoj E, Tonne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Am J Hum Genet 108:1053-1068 (2021)
DOI:10.1016/j.ajhg.2021.04.008

Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

J Med Genet 58:712-716 (2021)
DOI:10.1136/jmedgenet-2020-107137

Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogne B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genet Med 23:1901-1911 (2021)
DOI:10.1038/s41436-021-01218-6

Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogne B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friethriksdottir R, Katrinardottir H, Sulem P, Stefansson K, Bjornsson HT, Mandelstam S, Morleo M, Mariani M, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Am J Hum Genet 109:601-617 (2022)
DOI:10.1016/j.ajhg.2022.03.002

Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denomme-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

Am J Hum Genet 109:1436-1457 (2022)
DOI:10.1016/j.ajhg.2022.06.011

Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.

HGG Adv 3:100072 (2022)
DOI:10.1016/j.xhgg.2021.100072

Kotecha U, Mistri M, Shah N, Shah PS, Gupta VA

Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.

Clin Genet 100:748-751 (2021)
DOI:10.1111/cge.14053

Herranen A, Ikaheimo K, Lankinen T, Pakarinen E, Fritzsch B, Saarma M, Lindahl M, Pirvola U

Deficiency of the ER-stress-regulator MANF triggers progressive outer hair cell death and hearing loss.

Cell Death Dis 11:100 (2020)
DOI:10.1038/s41419-020-2286-6

Schafgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiss M, Aretz S, Strom TM, Wieczorek D, Engels H

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

Eur J Hum Genet 24:1739-1745 (2016)
DOI:10.1038/ejhg.2016.90

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

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Eur J Hum Genet 26:54-63 (2018)
DOI:10.1038/s41431-017-0039-5

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

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Am J Hum Genet 105:213-220 (2019)
DOI:10.1016/j.ajhg.2019.05.005

Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H

Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.

J Hum Genet 66:1185-1187 (2021)
DOI:10.1038/s10038-021-00948-4