KEGG   DISEASE: Hypotonia, ataxia, and delayed development syndrome
Entry
H02378                      Disease                                
Name
Hypotonia, ataxia, and delayed development syndrome
Description
Hypotonia, ataxia, and delayed development syndrome (HADDS) is a complex neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02378  Hypotonia, ataxia, and delayed development syndrome
Gene
EBF3 [HSA:253738] [KO:K09103]
Other DBs
ICD-11: LD90.Y
OMIM: 617330
Reference
PMID:28017372
  Authors
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV
  Title
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
  Journal
Am J Hum Genet 100:128-137 (2017)
DOI:10.1016/j.ajhg.2016.11.018
Reference
PMID:28017373
  Authors
Harms FL, Girisha KM, Hardigan AA, Kortum F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bezieau S, Cogne B, Isidor B, Kury S, Lupski JR, Myers RM, Cooper GM, Kutsche K
  Title
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
  Journal
Am J Hum Genet 100:117-127 (2017)
DOI:10.1016/j.ajhg.2016.11.012
Reference
PMID:28017370
  Authors
Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN, Williams J, Clouston P, Hagman J, Nemeth AH
  Title
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
  Journal
Am J Hum Genet 100:138-150 (2017)
DOI:10.1016/j.ajhg.2016.11.020
LinkDB

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