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145 Possible Causes for Mutation in the IDS Gene, Round Face

  • Mucopolysaccharidosis

    […] in the IDS gene.[ncbi.nlm.nih.gov] The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives.[ncbi.nlm.nih.gov] We describe the results of X-chromosome inactivation analysis in a 5-year-old girl with clinically severe disease and heterozygous mutation p.Arg468Gln in the IDS gene.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis[ncbi.nlm.nih.gov] These mutations are considered as recurrent mutations in the IDS gene.[jmg.bmj.com] Mutations in the IDS gene cause MPS II.[ghr.nlm.nih.gov]

  • Pseudohypoparathyroidism

    The development of MLID and the two IDs of this patient may be due to a mutation in a hitherto unknown gene for MLID, or to a reduced amount of DNA methyltransferase-1 (DNMT1[ncbi.nlm.nih.gov] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com]

  • Barth Syndrome

    "Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome." Circulation 103(9): 1256-63.[preventiongenetics.com] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents[nicklauschildrens.org]

  • Neuhauser Syndrome

    […] in an X-linked intellectual disability (XLID) gene in linkage disequilibrium (LD) with the CHRDL1 mutation, or an autosomal ID gene.[journals.plos.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

  • Prader-Willi Syndrome

    Deletion 15q11.2–q13, maternal uniparental disomy (UPD), imprinting defect (ID) and single gene mutation.[doi.org] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    [SN]. database_cross_reference OMIM:177170 definition An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.[bioportal.bioontology.org] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] : OMIM:177170, DOID:14800, MESH:C535819 Definition: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.[informatics.jax.org]

  • Mucopolysaccharidosis 1

    (Orlando, FL, USA) 関連する報告書 国際共著/国際学会である [学会発表] A novel IDS gene mutation in two Japanese patients with severe mucopolysaccharidosis type II and correlation between developmental[kaken.nii.ac.jp]

  • Cold-Induced Sweating Syndrome 1

    FCAS2 is due to mutation in NLRP12 gene. Books about skin diseases: See the DermNet NZ bookstore[dermnetnz.org] Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental[diseaseinfosearch.org] Characteristic dysmorphic features include round face, chubby cheeks, micrognathia, camptodactyly, and progressive kyphoscoliosis.[cags.org.ae]

  • Familial Papillary Thyroid Carcinoma with Renal Papillary Neoplasia

    Grebe SK, McIver B, Hay ID Wu PS, Maciel LM, et al. (1997) Frequent loss of heterozygosity on chromosomes 3p and 17p without VHL or p53 mutations suggests in- volvement of[journals.plos.org] This syndrome causes high blood pressure, abdominal obesity, a round red face, slowed growth in children, fragile skin, fatigue, and other health problems.[mygenecounsel.com] […] unidentified tumor suppressor genes in follicular thyroid carcinoma.[journals.plos.org]

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