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3,832 Possible Causes for Early-Onset Coronary Artery Stenosis, Hearing Impairment, Umbilical Plaque

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com] Surgical incision in the eardrum can correct hearing impairment. In order to avoid complications, surgery has also been recommended for all inguinal hernias.[patienthelp.org]

  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment, heart disease, and a shortened lifespan.[verywellhealth.com]

  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Lytic Bone Lesion

    impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear.[emedicine.medscape.com] impairment, see age-related hearing loss age-related hearing loss age-related macular degeneration age-related maculopathy, see age-related macular degeneration agenesis[mygenomics.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Waldenstrom Macroglobulinemia

    Hyperviscosity syndrome is potentially fatal as it presents with spontaneous bleeding, headache, dizziness, hearing impairment and visual abnormalities.[symptoma.com] hearing, ataxia, nystagmus, diplopia, and eventually coma. 49 Malignant vitreitis and conjunctival infiltration are rare ocular manifestations of the disease. 50 Symptoms[bloodjournal.org] 48 Bing-Neel syndrome (long-standing hyperviscosity altering the vascular permeability and leading to perivascular malignant infiltration) consists of headache, vertigo, impaired[bloodjournal.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Baraitser-Winter Syndrome 1

    Roux, Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients, Scientific Reports, 10.1038/s41598-017-16846-9, 7, 1,[doi.org] impairment Rendtorff, ND; Zhu, M; Fagerheim, T A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) Wijk, E; Krieger, E; Kemperman[deepdyve.com] ., Moreno-Pelayo Miguel Ángel, In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment, 10.1093/hmg/ddp249 Bryan Keith[dial.uclouvain.be]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com] impairment, heart disease, and a shortened lifespan.[verywell.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 6

    Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV.[elsevier.es] impairment, and hyperactivity with aggressive behavior. 4 – 6 Carpal and tarsal tunnel syndromes represent the most common features of peripheral nervous system impairment[ajnr.org] […] vision Recurrent otitis media Impaired hearing Recurrent sinopulmonary infections Upper airway obstruction Sleep apnea Reduced pulmonary function Cardiac abnormalities and[biomarin.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Kniest Dysplasia

    Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[symptoma.com] Six of the seven patients had significant hearing impairment and five of the seven patients exhibited clefting abnormalities.[ncbi.nlm.nih.gov] impairment Deafness Hearing defect [ more ] 0000365 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Proptosis Bulging eye Eyeballs bulging out Prominent[rarediseases.info.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Robinow Syndrome

    Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome.[thritajournal.com] It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.[icd10data.com] The latest finding in Robinow syndrome was bilateral conductive hearing impairment with temporal bone hyperostosis ( 13 ).[thritajournal.com]

    Missing: Early-Onset Coronary Artery Stenosis

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