NED with spasticity and poor growth (NEDSG)
NED with hypotonia, seizures, and absent language (NDHSAL)
NED with or without autism or seizures (NEDAUS) [DS:H02864]
NED with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)
NED with hypotonia and gross motor and speech delay (NEDHMS)
NED with absent speech and movement and behavioral abnormalities (NEDSMB)
NED with seizures, spasticity, and complete or partial agenesis of the corpus callosum (NEDSSCC)
NED with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF)
Nabais Sa-de Vries syndrome (NSDVS)
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED)
Buratti-Harel syndrome (BURHAS)
NED with dysmorphic facies and ischiopubic hypoplasia (NEDFIH)
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND)
NED with hypotonia and seizures (NEDHS)
NED with microcephaly, hypotonia, and absent language (NEDMHAL)
Stankiewicz-Isidor syndrome (STISS)
Birk-Aharoni syndrome (BKAH)
Cardiac, facial, and digital anomalies with developmental delay (CAFDADD)
NED with behavioral, ear, and skeletal abnormalities (NEDBES)
Tayoun-Maawali syndrome (TYMAS)
NED with speech delay and behavioral abnormalities (NEDSBH)

Ebstein F, Kury S, Papendorf JJ, Kruger E

Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune  Dysregulation to Disease Pathogenesis.

Front Mol Neurosci 14:733012 (2021)
DOI:10.3389/fnmol.2021.733012

Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzman-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Brain 141:1934-1945 (2018)
DOI:10.1093/brain/awy135

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

Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

J Hum Genet 65:727-734 (2020)
DOI:10.1038/s10038-020-0758-2

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martinez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM

IRF2BPL Is Associated with Neurological Phenotypes.

Am J Hum Genet 103:456 (2018)
DOI:10.1016/j.ajhg.2018.08.010

Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

Genet Med 23:661-668 (2021)
DOI:10.1038/s41436-020-01047-z

Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clement P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Genet Med 25:100323 (2023)
DOI:10.1016/j.gim.2022.10.006

Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Sci Adv 8:eabo7112 (2022)
DOI:10.1126/sciadv.abo7112

Nabais Sa MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Am J Hum Genet 106:405-411 (2020)
DOI:10.1016/j.ajhg.2020.02.001

Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sorensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Am J Hum Genet 105:640-657 (2019)
DOI:10.1016/j.ajhg.2019.07.005

Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Heron D, Cong F, Harel T

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.

J Med Genet 58:205-212 (2021)
DOI:10.1136/jmedgenet-2019-106335

Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

Am J Hum Genet 110:146-160 (2023)
DOI:10.1016/j.ajhg.2022.12.003

Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.

Clin Genet 99:303-308 (2021)
DOI:10.1111/cge.13873

Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Kruger E, Trost D, Verloes A, Faivre L, Vitobello A

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Clin Genet 97:567-575 (2020)
DOI:10.1111/cge.13709

Ansar M, Ebstein F, Ozkoc H, Paracha SA, Iwaszkiewicz J, Gesemann M, Zoete V, Ranza E, Santoni FA, Sarwar MT, Ahmed J, Kruger E, Bachmann-Gagescu R, Antonarakis SE

Biallelic variants in PSMB1 encoding the proteasome subunit beta6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental  delay and short stature.

Hum Mol Genet 29:1132-1143 (2020)
DOI:10.1093/hmg/ddaa032

Kury S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denomme-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceno I, Gomez A, Nugent KM, Gibson JB, Cogne B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bezieau S, Stankiewicz P, Isidor B

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 100:352-363 (2017)
DOI:10.1016/j.ajhg.2017.01.003

Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS

PSMC1 variant causes a novel neurological syndrome.

Clin Genet 102:324-332 (2022)
DOI:10.1111/cge.14195

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Am J Hum Genet 103:154-162 (2018)
DOI:10.1016/j.ajhg.2018.06.005

Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Kruger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Genet Med 26:101119 (2024)
DOI:10.1016/j.gim.2024.101119

Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordonez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoglu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.

Am J Hum Genet 112:1233-1246 (2025)
DOI:10.1016/j.ajhg.2025.03.013

Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Am J Hum Genet 112:75-86 (2025)
DOI:10.1016/j.ajhg.2024.11.009