自閉症と言葉の遅れを伴う知的発達障害 (IDDAS)
自閉症状、言葉の遅れおよび痙攣を伴う知的発達障害 (IDDALDS)
自閉症と顔異形を伴う知的発達障害 (IDDADF)
自閉症状を伴う（伴わない）言語障害を伴う知的発達障害 (IDDLA)
White-Sutton 症候群 (WHSUS)

症候群性知的発達障害 [DS:H02463]

McDermott JH, Study DDD, Clayton-Smith J, Briggs TA

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

Eur J Med Genet 61:253-256 (2018)
DOI:10.1016/j.ejmg.2017.12.009

den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE

Functional characterization of TBR1 variants in neurodevelopmental disorder.

Sci Rep 8:14279 (2018)
DOI:10.1038/s41598-018-32053-6

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Buttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Nat Commun 10:4679 (2019)
DOI:10.1038/s41467-019-12435-8

Al-Amri AH, Armstrong P, Amici M, Ligneul C, Rouse J, El-Asrag ME, Pantiru A, Vancollie VE, Ng HWY, Ogbeta JA, Goodchild K, Ellegood J, Lelliott CJ, Mullins JGL, Bretman A, Al-Ali R, Beetz C, Al-Gazali L, Al Shamsi A, Lerch JP, Mellor JR, Al Sayegh A, Ali M, Inglehearn CF, Clapcote SJ

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.

Biol Psychiatry 92:323-334 (2022)
DOI:10.1016/j.biopsych.2021.12.017

Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafreniere RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, Phillips MS, Fombonne E, Rouleau GA, Michaud JL

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

Am J Hum Genet 87:671-8 (2010)
DOI:10.1016/j.ajhg.2010.09.017

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjold M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Am J Hum Genet 98:541-552 (2016)
DOI:10.1016/j.ajhg.2016.02.004