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Round ear

MedGen UID:
Concept ID:
Anatomical Abnormality
HPO: HP:0100830

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRound ear

Conditions with this feature

Mosaic variegated aneuploidy syndrome 2
MedGen UID:
Concept ID:
Disease or Syndrome
Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011). See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15.
Deafness, cataract, impaired intellectual development, and polyneuropathy
MedGen UID:
Concept ID:
Disease or Syndrome
Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area (Kroll-Hermi et al., 2020).

Professional guidelines


Agrawal R, Testi I, Bodaghi B, Barisani-Asenbauer T, McCluskey P, Agarwal A, Kempen JH, Gupta A, Smith JR, de Smet MD, Yuen YS, Mahajan S, Kon OM, Nguyen QD, Pavesio C, Gupta V; Collaborative Ocular Tuberculosis Study Consensus Group
Ophthalmology 2021 Feb;128(2):277-287. Epub 2020 Jun 27 doi: 10.1016/j.ophtha.2020.06.052. PMID: 32603726
Seminario-Vidal L, Kroshinsky D, Malachowski SJ, Sun J, Markova A, Beachkofsky TM, Kaffenberger BH, Ergen EN, Mauskar M, Bridges A, Calhoun C, Cardones AR, Chen ST, Chodosh J, Cotliar J, Davis MDP, DeNiro KL, Dominguez AR, Eljure-Téllez J, Femia A, Fox LP, Guda A, Mitchell C, Mostaghimi A, Ortega-Loayza AG, Owen C, Pasieka H, Rahnama-Moghadam S, Saeed HN, Saunderson RB, Shanbhag S, Sharon VR, Strowd L, Venkatesh S, Wanat KA, Wetter DA, Worswick S, Micheletti RG
J Am Acad Dermatol 2020 Jun;82(6):1553-1567. Epub 2020 Mar 7 doi: 10.1016/j.jaad.2020.02.066. PMID: 32151629
Mittal R, Lisi CV, Gerring R, Mittal J, Mathee K, Narasimhan G, Azad RK, Yao Q, Grati M, Yan D, Eshraghi AA, Angeli SI, Telischi FF, Liu XZ
J Med Microbiol 2015 Oct;64(10):1103-1116. Epub 2015 Aug 5 doi: 10.1099/jmm.0.000155. PMID: 26248613Free PMC Article

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