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705 Possible Causes for Mental Retardation, Microphthalmos, Myopia

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases.[ncbi.nlm.nih.gov]

  • Pierre Robin Syndrome

    retardation, severe seizures, skeletal (limb) abnormalities, small head (microcephaly), small lower jaw (micrognathia) and undescended testicles (cryptorchidism).[doi.org] If you are wondering how a baby is diagnosed with myopia, you are not alone![raisingarrows.net] Keyword: Pierre Robin syndrome, Sleep apnea syndrome, Mental retardation pp.1079-1083 発行日 1995年10月15日 Published Date 1995/10/15 DOI Copyright 1995, Igaku-Shoin Ltd.[webview.isho.jp]

  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy.[symptoma.com] Glaucoma • Stargardt’s Syndrome • Retinal Detachment • Optic Neuritis • Diabetic Retinopathy • Retinitis Pigmentosa • Optic Nerve Atrophy • Cataracts • Usher’s Syndrome • Myopia[pinterest.cl]

  • Melhem-Fahl Syndrome

    […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[mindmappedia.com] Retardation Clefting Syndrome Craniosynostosis Syndrome, Autosomal Recessive Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Cree Mental Retardation Syndrome[rgd.mcw.edu] Myopia, infantile severe Myopia, severe Myotubular myopathy Myos-Myot Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis, inclusion[bionity.com]

  • Isolated Congenital Sclerocornea

    The condition is often associated with other local and systemic anomalies like microphthalmos, anomalies a t the angle of the anterior chamber (Franceschetti, 1946; Goldstein[documents.tips] Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation[ukgtn.nhs.uk] AD/-/154600 MARFAN SYNDROME/Ectopia lentis, myopia /AD/FBN1/#154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE)/Myopia/-/FBN1/#604308 MECKEL SYNDROME/Iris colobma, hypertelorism[eyewiki.org]

  • Syndromic Microphthalmia Type 10

    Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com] In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com] AD - 154600 MARFAN SYNDROME Ectopia lentis, myopia AD FBN1 #154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE) Myopia - FBN1 #604308 MECKEL SYNDROME Iris colobma, hypertelorism[eyewiki.aao.org]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[en.wikipedia.org] Microcephaly microphthalmos blindness[?] Microcephaly nonsyndromal[?] Microcephaly pontocerebellar hypoplasia dyskinesia[?][encyclopedia.kids.net.au] Myopia, infantile severe Myopia, severe Myotubular myopathy Myos-Myot Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis, inclusion[thefullwiki.org]

  • Mononen-Karnes-Senac Syndrome

    […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[mindmappedia.com] Myopia, infantile severe Myopia, severe Myotubular myopathy Myos–Myot [ edit ] Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis[en.wikipedia.org] Microcephaly microphthalmos blindness[?] Microcephaly nonsyndromal[?] Microcephaly pontocerebellar hypoplasia dyskinesia[?][encyclopedia.kids.net.au]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    microphthalmos) or posterior segment (posterior microphthalmos; (PM) of eyeball.[nature.com] COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION; COB1 Is also known as ; Related symptoms: Autosomal dominant inheritance[mendelian.co] Diseases related with Myopia and Glaucoma In the following list you will find some of the most common rare diseases related to Myopia and Glaucoma that can help you solving[mendelian.co]

  • Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome

    Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location, and high arched palate.[en.wikipedia.org] Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. J. Med. Genet. 32 : 245-246. [ Links ] Oley, C. and Baraitser, M. (1988).[scielo.br] Affected individuals may develop myopia or hyperopia in childhood, may have strabismus or amblyopia in one or both eyes and characteristic facial features and broad nasal[ivami.com]

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