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Intellectual developmental disorder, X-linked 110(XLID110)

MedGen UID:
1823954
Concept ID:
C5774180
Mental or Behavioral Dysfunction
Synonym: XLID110
 
Gene (location): FGF13 (Xq26.3-27.1)
 
Monarch Initiative: MONDO:0859086
OMIM®: 301095

Definition

X-linked intellectual developmental disorder-110 (XLID110) is characterized by moderately to severely impaired intellectual development. [from OMIM]

Clinical features

From HPO
Episodic vomiting
MedGen UID:
333228
Concept ID:
C1838993
Finding
Paroxysmal, recurrent episodes of vomiting.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.

Professional guidelines

PubMed

Sullivan SD, Welt C, Sherman S
Semin Reprod Med 2011 Jul;29(4):299-307. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280915. PMID: 21969264

Recent clinical studies

Etiology

Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S
Thyroid 2021 Sep;31(9):1316-1321. Epub 2021 Jul 2 doi: 10.1089/thy.2020.0696. PMID: 34049438Free PMC Article
Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E
Heart Rhythm 2021 Jul;18(7):1194-1202. Epub 2021 Mar 16 doi: 10.1016/j.hrthm.2021.03.024. PMID: 33737230
Zhang X, Bao X, Zhang J, Zhao Y, Cao G, Pan H, Zhang J, Wei L, Wu X
Eur J Med Genet 2012 Dec;55(12):677-81. Epub 2012 Aug 27 doi: 10.1016/j.ejmg.2012.08.009. PMID: 22982301
Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB
Am J Hum Genet 2000 Dec;67(6):1428-36. Epub 2000 Oct 30 doi: 10.1086/316913. PMID: 11055898Free PMC Article

Diagnosis

Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY
Hum Mol Genet 2024 Nov 8;33(22):1986-2001. doi: 10.1093/hmg/ddae135. PMID: 39277796Free PMC Article
Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E
Heart Rhythm 2021 Jul;18(7):1194-1202. Epub 2021 Mar 16 doi: 10.1016/j.hrthm.2021.03.024. PMID: 33737230
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M
Acta Biomed 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. PMID: 33170170Free PMC Article
Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ
Int Rev Neurobiol 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. PMID: 24209435
Kelly TE, Shires MA, Harris L, Wyandt H, Wilson WG
Va Med 1983 Apr;110(4):250-2. PMID: 6868782

Therapy

Presson AP, Kim N, Xiaofei Y, Chen IS, Kim S
BMC Bioinformatics 2011 Sep 14;12:367. doi: 10.1186/1471-2105-12-367. PMID: 21914224Free PMC Article

Prognosis

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM
Am J Hum Genet 2023 Feb 2;110(2):215-227. Epub 2022 Dec 30 doi: 10.1016/j.ajhg.2022.12.007. PMID: 36586412Free PMC Article
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S
Thyroid 2021 Sep;31(9):1316-1321. Epub 2021 Jul 2 doi: 10.1089/thy.2020.0696. PMID: 34049438Free PMC Article
Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E
Heart Rhythm 2021 Jul;18(7):1194-1202. Epub 2021 Mar 16 doi: 10.1016/j.hrthm.2021.03.024. PMID: 33737230
Lee CAA, Seo HS, Armien AG, Bates FS, Tolar J, Azarin SM
Fluids Barriers CNS 2018 Apr 4;15(1):9. doi: 10.1186/s12987-018-0094-5. PMID: 29615068Free PMC Article
Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ
Int Rev Neurobiol 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. PMID: 24209435

Clinical prediction guides

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM
Am J Hum Genet 2023 Feb 2;110(2):215-227. Epub 2022 Dec 30 doi: 10.1016/j.ajhg.2022.12.007. PMID: 36586412Free PMC Article
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S
Thyroid 2021 Sep;31(9):1316-1321. Epub 2021 Jul 2 doi: 10.1089/thy.2020.0696. PMID: 34049438Free PMC Article
Lee CAA, Seo HS, Armien AG, Bates FS, Tolar J, Azarin SM
Fluids Barriers CNS 2018 Apr 4;15(1):9. doi: 10.1186/s12987-018-0094-5. PMID: 29615068Free PMC Article
Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG
BMC Neurol 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z. PMID: 27506666Free PMC Article
Balmer D, Arredondo J, Samaco RC, LaSalle JM
Hum Genet 2002 Jun;110(6):545-52. Epub 2002 Apr 25 doi: 10.1007/s00439-002-0724-4. PMID: 12107440

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