Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies [DS:H02460]
Neurodevelopmental disorder with histone modification defect [DS:H02803]
NED with structural brain anomalies and dysmorphic facies (NEDBAF)
NED with dysmorphic facies and cerebellar hypoplasia (NEDFACH)
NED with cataracts, poor growth, and dysmorphic facies (NDCAGF)
NED with dysmorphic facies and variable seizures (NEDDFAS)
NED with cerebral atrophy and variable facial dysmorphism (NEDCAFD)
Cardiofacioneurodevelopmental syndrome (CFNDS)
Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD)
Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS)
Alzahrani-Kuwahara syndrome (ALKUS)
NED with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH)
NED with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked (NEDGFAX)
NED with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC)
NED with dysmorphic facies and behavioral abnormalities (NEDFBA)
NED with poor growth, large ears, and dysmorphic facies (NEDGEF)
NED with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPO)
NED with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (NEDHFDB)

Syndromic neurodevelopmental disorder [DS:H02459]

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Genet Med 21:1021-1026 (2019)
DOI:10.1038/s41436-018-0323-y

Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J

Mutations in the exocyst component EXOC2 cause severe defects in human brain development.

J Exp Med 217:e20192040 (2020)
DOI:10.1084/jem.20192040

Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.

Eur J Hum Genet 27:582-593 (2019)
DOI:10.1038/s41431-018-0298-9

Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Genet Med 23:1158-1162 (2021)
DOI:10.1038/s41436-021-01097-x

Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.

J Med Genet 58:237-246 (2021)
DOI:10.1136/jmedgenet-2020-106849

Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Cote J, Campeau PM

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

Am J Hum Genet 107:564-574 (2020)
DOI:10.1016/j.ajhg.2020.08.002

Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli M, Seri M, Pippucci T, Elpeleg O, Katsanis N

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Hum Mol Genet 29:1489-1497 (2020)
DOI:10.1093/hmg/ddaa073

Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O

Homozygous stop-gain variant in LRRC32, encoding a TGFbeta receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Eur J Hum Genet 27:1315-1319 (2019)
DOI:10.1038/s41431-019-0380-y

Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

PLoS Genet 14:e1007671 (2018)
DOI:10.1371/journal.pgen.1007671

Alzahrani F, Kuwahara H, Long Y, Al-Owain M, Tohary M, AlSayed M, Mahnashi M, Fathi L, Alnemer M, Al-Hamed MH, Lemire G, Boycott KM, Hashem M, Han W, Al-Maawali A, Al Mahrizi F, Al-Thihli K, Gao X, Alkuraya FS

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Am J Hum Genet 107:1178-1185 (2020)
DOI:10.1016/j.ajhg.2020.11.007

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denomme-Pichon AS, Cogne B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly.

Am J Hum Genet 109:1909-1922 (2022)
DOI:10.1016/j.ajhg.2022.08.008

Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kepczynski L, Polatynska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

Am J Hum Genet 109:2270-2282 (2022)
DOI:10.1016/j.ajhg.2022.10.007

Alsaleh N, Alhashem A, Tabarki B, Mohamed S, Alharby E, Alkuraya FS, Almontashiri NAM

A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation.

Neurol Genet 8:e200010 (2022)
DOI:10.1212/NXG.0000000000200010

Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevieve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Am J Hum Genet 110:790-808 (2023)
DOI:10.1016/j.ajhg.2023.03.016

Alsaif HS, Al Ali H, Faqeih E, Ramadan SM, Barth M, Colin E, Prouteau C, Bonneau D, Ziegler A, Alkuraya FS

ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

Hum Genet 140:1395-1401 (2021)
DOI:10.1007/s00439-021-02321-z

Rahikkala E, Urpa L, Ghimire B, Topa H, Kurki MI, Koskela M, Airavaara M, Hamalainen E, Pylkas K, Korkko J, Savolainen H, Suoranta A, Bertoli-Avella A, Rolfs A, Mattila P, Daly M, Palotie A, Pietilainen O, Moilanen J, Kuismin O

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.

Eur J Hum Genet 30:619-627 (2022)
DOI:10.1038/s41431-022-01046-5

Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Ounap K, Salton M, Mor-Shaked H

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Am J Hum Genet 110:2112-2119 (2023)
DOI:10.1016/j.ajhg.2023.10.013

Greene D, Thys C, Berry IR, Jarvis J, Ortibus E, Mumford AD, Freson K, Turro E

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Nat Med 10.1038/s41591-024-03085-5 (2024)
DOI:10.1038/s41591-024-03085-5