RERE-related neurodevelopmental syndrome [DS:H02305]
NED with brain anomalies and vertebral or cardiac anomalies (NEDBAVC)
NED with cerebellar hypoplasia and spasticity (NEDCHS)
NED with cerebellar atrophy and with seizures (NEDCAS)
NED with epilepsy and hypoplasia of the corpus callosum (NEDEHCC)
NED with nonspecific brain abnormalities and with seizures (NEDBAS)
NED with progressive spasticity and brain white matter abnormalities (NEDSWMA)
NED with visual defects and brain anomalies (NEDVIBA)
NED with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM)
NED with midbrain and hindbrain malformations (NEDMHM)
NED and structural brain anomalies with seizures and spasticity (NEDBASS)
NED with alopecia and brain abnormalities (NEDABA)
NED with epilepsy, spasticity, and brain atrophy (NEDESBA)
NED with autistic features and structural brain abnormalities (NEDASB)
NED with cerebellar atrophy and motor dysfunction (NEDCAM)
NED with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC)
NED with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB)
NED with hearing loss, seizures, and brain abnormalities (NEDHSB)
NED with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (NEDMLHB)
NED with spasticity, seizures, and brain abnormalities (NEDSSBA)
NED with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB)
NED with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB)
NED with progressive spasticity and brain abnormalities (NEDPSB)

Syndromic neurodevelopmental disorder [DS:H02459]

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Am J Hum Genet 105:302-316 (2019)
DOI:10.1016/j.ajhg.2019.06.001

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, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS

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

PLoS Genet 13:e1006809 (2017)
DOI:10.1371/journal.pgen.1006809

Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S

BRAT1 mutations present with a spectrum of clinical severity.

Am J Med Genet A 170:2265-73 (2016)
DOI:10.1002/ajmg.a.37783

Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Am J Hum Genet 103:296-304 (2018)
DOI:10.1016/j.ajhg.2018.06.011

Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Am J Hum Genet 105:631-639 (2019)
DOI:10.1016/j.ajhg.2019.07.002

Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostasy K, Radelfahr F, Bevot A, Dobler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Muller AJ, Laugwitz L, Nagele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hubner CA, Deschauer M, Mayr JA, Bonnen PE, Krageloh-Mann I, Wortmann SB, Haack TB

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

Am J Hum Genet 107:364-373 (2020)
DOI:10.1016/j.ajhg.2020.06.015

Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Eur J Hum Genet 27:1081-1089 (2019)
DOI:10.1038/s41431-019-0366-9

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Am J Hum Genet 100:343-351 (2017)
DOI:10.1016/j.ajhg.2016.12.013

Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hubner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hubner C, Kaindl AM

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

PLoS Genet 13:e1006746 (2017)
DOI:10.1371/journal.pgen.1006746

Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.

Eur J Hum Genet 26:1502-1511 (2018)
DOI:10.1038/s41431-018-0179-2

Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and  neuroimaging abnormalities.

Am J Med Genet A 176:2554-2560 (2018)
DOI:10.1002/ajmg.a.60677

Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Brain 143:112-130 (2020)
DOI:10.1093/brain/awz374

Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Am J Hum Genet 106:438-452 (2020)
DOI:10.1016/j.ajhg.2020.02.013

Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schoneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bonnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nat Commun 12:2558 (2021)
DOI:10.1038/s41467-021-22627-w

Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzalez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Ann Neurol 89:828-833 (2021)
DOI:10.1002/ana.26019

Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

Acta Neuropathol 140:971-975 (2020)
DOI:10.1007/s00401-020-02223-w

Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Am J Hum Genet 97:457-64 (2015)
DOI:10.1016/j.ajhg.2015.07.014

El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L

Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.

Hum Mol Genet 27:2171-2186 (2018)
DOI:10.1093/hmg/ddy126

Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.

Genet Med 23:2455-2460 (2021)
DOI:10.1038/s41436-021-01291-x

Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gosswein S, Di Donato N, Bertini ES, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Am J Hum Genet 110:774-789 (2023)
DOI:10.1016/j.ajhg.2023.03.012

Alkhater RA, Scherer SW, Minassian BA, Walker S

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Ann Clin Transl Neurol 5:1617-1621 (2018)
DOI:10.1002/acn3.677

Laugwitz L, Buchert R, Olguin P, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Aviles J, Gonzalez-Gutierrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krageloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Am J Hum Genet 112:168-180 (2025)
DOI:10.1016/j.ajhg.2024.12.001