KEGG   DISEASE: Hypotonia, ataxia, and delayed development syndrome
H02378                      Disease                                

Hypotonia, ataxia, and delayed development syndrome
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.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02378  Hypotonia, ataxia, and delayed development syndrome
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
EBF3 [HSA:253738] [KO:K09103]
Other DBs
ICD-11: LD90.Y
ICD-10: G71.9
OMIM: 617330
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
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Am J Hum Genet 100:128-137 (2017)
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
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet 100:117-127 (2017)
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
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Am J Hum Genet 100:138-150 (2017)

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