KEGG   DISEASE: Autosomal recessive intellectual developmental disorder
Entry
H00768                      Disease                                
Name
Autosomal recessive intellectual developmental disorder;
Autosomal recessive mental retardation
Description
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several causative genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified.
Category
Mental and behavioural disorder
Brite
Human diseases [BR:br08402]
 Other diseases
  Mental and behavioural disorders
   H00768  Autosomal recessive intellectual developmental disorder
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H00768  Autosomal recessive intellectual developmental disorder
Related
pathway
hsa00510  N-Glycan biosynthesis
hsa00513  Various types of N-glycan biosynthesis
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa04141  Protein processing in endoplasmic reticulum
Gene
(MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K12669]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K10380]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) NDST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319] [KO:K24594]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
(MRT73) NAA20 [HSA:51126] [KO:K17972]
Other DBs
ICD-11: 6A00
ICD-10: F78.9
MeSH: D008607
OMIM: 249500 607417 608443 611091 611092 611093 611090 613192 614020 614202 614249 614340 614499 615286 615493 615516 615541 615599 615637 615802 615817 615942 615979 616116 616193 616269 616281 616460 616739 616887 616917 617028 617051 617125 617188 617270 617323 617432 617773 617816 618095 618103 618109 618221 618295 608302 618383 618402 618504 618665 619717
Reference
  Authors
Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H
  Title
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
  Journal
Hum Genet 129:141-8 (2011)
DOI:10.1007/s00439-010-0907-3
Reference
  Authors
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH
  Title
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
  Journal
Nature 478:57-63 (2011)
DOI:10.1038/nature10423
Reference
PMID:20092579 (MRT1)
  Authors
Mitsui S, Osako Y, Yokoi F, Dang MT, Yuri K, Li Y, Yamaguchi N
  Title
A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction.
  Journal
Eur J Neurosci 30:2368-78 (2009)
DOI:10.1111/j.1460-9568.2009.07029.x
Reference
PMID:17380424 (MRT2)
  Authors
Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S, Qihan W
  Title
Primary function analysis of human mental retardation related gene CRBN.
  Journal
Mol Biol Rep 35:251-6 (2008)
DOI:10.1007/s11033-007-9077-3
Reference
PMID:17714190 (MRT3)
  Authors
Rogaeva A, Albert PR
  Title
The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription.
  Journal
Eur J Neurosci 26:965-74 (2007)
DOI:10.1111/j.1460-9568.2007.05727.x
Reference
PMID:22541559 (MRT5)
  Authors
Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weissmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW
  Title
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
  Journal
Am J Hum Genet 90:847-55 (2012)
DOI:10.1016/j.ajhg.2012.03.021
Reference
PMID:17847003 (MRT6)
  Authors
Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW
  Title
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
  Journal
Am J Hum Genet 81:792-8 (2007)
DOI:10.1086/521275
Reference
PMID:18452889 (MRT7)
  Authors
Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW
  Title
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
  Journal
Am J Hum Genet 82:1158-64 (2008)
DOI:10.1016/j.ajhg.2008.03.018
Reference
PMID:21907012 (MRT12)
  Authors
Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW
  Title
ST3GAL3 mutations impair the development of higher cognitive functions.
  Journal
Am J Hum Genet 89:407-14 (2011)
DOI:10.1016/j.ajhg.2011.08.008
Reference
PMID:20004765 (MRT13)
  Authors
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
  Title
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
  Journal
Am J Hum Genet 85:909-15 (2009)
DOI:10.1016/j.ajhg.2009.11.009
Reference
PMID:21212097 (MRT14)
  Authors
Caliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C
  Title
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
  Journal
Hum Mol Genet 20:1285-9 (2011)
DOI:10.1093/hmg/ddq569
Reference
PMID:21763484 (MRT15)
  Authors
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H
  Title
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
  Journal
Am J Hum Genet 89:176-82 (2011)
DOI:10.1016/j.ajhg.2011.06.006
Reference
PMID:21868677 (MRT18)
  Authors
Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L
  Title
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
  Journal
Science 333:1161-3 (2011)
DOI:10.1126/science.1206638
Reference
PMID:23620220 (MRT36)
  Authors
Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS
  Title
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
  Journal
J Med Genet 50:425-30 (2013)
DOI:10.1136/jmedgenet-2012-101378
Reference
PMID:23390136 (MRT37)
  Authors
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L
  Title
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
  Journal
Hum Mol Genet 22:1960-70 (2013)
DOI:10.1093/hmg/ddt043
Reference
PMID:23243086 (MRT38)
  Authors
Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH
  Title
Mutation of HERC2 causes developmental delay with Angelman-like features.
  Journal
J Med Genet 50:65-73 (2013)
DOI:10.1136/jmedgenet-2012-101367
Reference
PMID:24239382 (MRT41)
  Authors
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH
  Title
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
  Journal
Am J Hum Genet 94:87-94 (2014)
DOI:10.1016/j.ajhg.2013.10.001
Reference
PMID:24784135 (MRT42)
  Authors
Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
  Title
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
  Journal
PLoS Genet 10:e1004320 (2014)
DOI:10.1371/journal.pgen.1004320
Reference
PMID:21498477 (MRT43)
  Authors
Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A
  Title
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
  Journal
Hum Mol Genet 20:2585-90 (2011)
DOI:10.1093/hmg/ddr158
Reference
PMID:24626631 (MRT44)
  Authors
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Muller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC
  Title
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
  Journal
Hum Mol Genet 23:4015-23 (2014)
DOI:10.1093/hmg/ddu115
Reference
PMID:24623383 (MRT45)
  Authors
Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB
  Title
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
  Journal
Hum Genet 133:975-84 (2014)
DOI:10.1007/s00439-014-1438-0
Reference
PMID:25125150 (MRT46)
  Authors
Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K
  Title
NDST1 missense mutations in autosomal recessive intellectual disability.
  Journal
Am J Med Genet A 164A:2753-63 (2014)
DOI:10.1002/ajmg.a.36723
Reference
PMID:25480035 (MRT47)
  Authors
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG
  Title
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
  Journal
Am J Hum Genet 95:721-8 (2014)
DOI:10.1016/j.ajhg.2014.10.016
Reference
PMID:25704603 (MRT48)
  Authors
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H
  Title
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
  Journal
Am J Hum Genet 96:386-96 (2015)
DOI:10.1016/j.ajhg.2015.01.010
Reference
PMID:27601654 (MRT49)
  Authors
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM
  Title
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
  Journal
Proc Natl Acad Sci U S A 113:E5598-607 (2016)
DOI:10.1073/pnas.1609221113
Reference
PMID:25701870 (MRT50)
  Authors
Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA
  Title
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
  Journal
Hum Mol Genet 24:3172-80 (2015)
DOI:10.1093/hmg/ddv069
Reference
PMID:26206890 (MRT51)
  Authors
Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB
  Title
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
  Journal
Hum Mol Genet 24:5697-710 (2015)
DOI:10.1093/hmg/ddv286
Reference
PMID:26566883 (MRT52)
  Authors
Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S
  Title
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
  Journal
J Med Genet 53:138-44 (2016)
DOI:10.1136/jmedgenet-2015-103179
Reference
PMID:26996948 (MRT53)
  Authors
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y
  Title
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
  Journal
Am J Hum Genet 98:615-26 (2016)
DOI:10.1016/j.ajhg.2016.02.007
Reference
PMID:27106596 (MRT54)
  Authors
Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS
  Title
A null mutation in TNIK defines a novel locus for intellectual disability.
  Journal
Hum Genet 135:773-8 (2016)
DOI:10.1007/s00439-016-1671-9
Reference
PMID:27055666 (MRT55)
  Authors
Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS
  Title
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
  Journal
Hum Genet 135:707-13 (2016)
DOI:10.1007/s00439-016-1665-7
Reference
PMID:21734151 (MRT56)
  Authors
Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW
  Title
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
  Journal
Proc Natl Acad Sci U S A 108:12390-5 (2011)
DOI:10.1073/pnas.1107103108
Reference
PMID:27616480 (MRT57)
  Authors
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R
  Title
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
  Journal
Am J Hum Genet 99:912-916 (2016)
DOI:10.1016/j.ajhg.2016.07.019
Reference
PMID:26416544 (MRT59)
  Authors
Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S
  Title
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
  Journal
Mol Psychiatry 21:1125-9 (2016)
DOI:10.1038/mp.2015.150
Reference
PMID:28257693 (MRT60)
  Authors
Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R
  Title
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
  Journal
Am J Hum Genet 100:555-561 (2017)
DOI:10.1016/j.ajhg.2017.01.032
Reference
PMID:27612186 (MRT61)
  Authors
Alwadei AH, Benini R, Mahmoud A, Alasmari A, Kamsteeg EJ, Alfadhel M
  Title
Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.
  Journal
Dev Med Child Neurol 58:1317-1322 (2016)
DOI:10.1111/dmcn.13250
Reference
PMID:31564433 (MRT72)
  Authors
Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S
  Title
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
  Journal
Am J Hum Genet 105:869-878 (2019)
DOI:10.1016/j.ajhg.2019.09.007
Reference
PMID:34230638 (MRT73)
  Authors
Morrison J, Altuwaijri NK, Bronstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T
  Title
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
  Journal
Genet Med 23:2213-2218 (2021)
DOI:10.1038/s41436-021-01264-0

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