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508 Possible Causes for Microphthalmos, Myopia, Prader-Willi Syndrome

  • Laurence Moon Syndrome

    】 多腺性自己免疫症候群 【 polyuria 】 多尿 【 Prader-Willi syndrome 】 プラダー・ウィリー症候群 【 primary aldosteronism 】 原発性アルドステロン症 【 progesterone 】 プロゲステロン 【 prolactin (PRL) 】 プロラクチン 【 prolactinoma[] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[] Glaucoma • Stargardt’s Syndrome • Retinal Detachment • Optic Neuritis • Diabetic Retinopathy • Retinitis Pigmentosa • Optic Nerve Atrophy • Cataracts • Usher’s Syndrome • Myopia[]

  • Congenital Muscular Dystrophy

    Spinal muscular atrophy Prader-Willi syndrome Tay-Sachs disease Trisomy 13 Other disorders that can lead to the condition include: Achondroplasia Being born with hypothyroidism[] […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[] Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases.[]

  • Pierre Robin Syndrome

    Juvenile idiopathic arthritis Marfan syndrome Noonan syndrome Pierre Robin syndrome PraderWilli syndrome Progeria Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz[] If you are wondering how a baby is diagnosed with myopia, you are not alone![] Poland 症候群 Pompe disease Pompe 病 Potter face Potter 顔貌 Potter syndrome Potter 症候群 Poxviridae ポックスウイルス科 Prader-Willi syndrome Prader-Willi 症候群 PWS Prausnitz-Ku stner reaction[]

  • Syndromic Microphthalmia Type 10

    ., paternal del(15)(q11.2q13) in Prader-Willi syndrome and maternal del(15)(q11.2q13) in Angelman syndrome).[] 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[] AD/-/154600 MARFAN SYNDROME/Ectopia lentis, myopia /AD/FBN1/#154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE)/Myopia/-/FBN1/#604308 MECKEL SYNDROME/Iris colobma, hypertelorism[]

  • Melhem-Fahl Syndrome

    Pilotto Syndrome Piussan Lenaerts Mathieu Syndrome Podder-Tolmie Syndrome Postthrombotic Syndrome Prader-Willi Syndrome Preeyasombat Varavithya Syndrome Propping Zerres Syndrome[] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[] Myopia, infantile severe Myopia, severe Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis, inclusion body Myositis Myotonia[]

  • Pfeiffer-Palm-Teller Syndrome

    Prader and Gurtner syndrome info... Prader-Labhardt-Willy syndrome info... Prader-Labhart-Willi-Fanconi syndrome info... Prader's orchidometer info...[] Aughton syndrome 0 *Abnormalities, Multiple *Cleft Palate *Dextrocardia *Intellectual Disability *Microphthalmos.[] Night blindness skeletal anomalies unusual facies 0 *Myopia *Night Blindness *Facies.[]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    11 Prader-Willi syndrome 1 Prader-Willi syndrome (surgical) 1 prematurity 2 progressive supranuclear palsy 1 propionic acidemia 2 prune belly syndrome 1 pyruvate carboxylase[] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[] Microcephaly microphthalmos blindness[?] Microcephaly nonsyndromal[?] Microcephaly pontocerebellar hypoplasia dyskinesia[?][]

  • Prata-Libéral-Gonçalves Syndrome

    Inch triphalange kneecap luxation Powell buist stenzel syndrome of Powell will chandra saal syndrome of Powell venencie Gordon syndrome of Prader-Willi, syndrome of Prata[] […] shape and short stature 245 dysplasia short stature and developmental delay to 5-alpha-reductase deficiency mental retardation syndrome Familial incomplete male Coloboma-microphthalmos[] […] kyphosis Irregular acetabular roof Spondyloepimetaphyseal dysplasia Hyperlordosis Bowing of the legs Limited elbow extension Abnormality of the skeletal system Arthritis Myopia[]

  • Isolated Congenital Sclerocornea

    […] granules on corneal endothelium, iris transillumination defects, concave iris, increased pigmentation of trabecular meshwork, deposited pigment on Schwalbe’s line/AD/-/%600510 PRADER-WILLI[] 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[] In most patients, the eye on the affected side or sides is also abnormally small (microphthalmos).[]

  • Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

    […] anomalies of inner ear / cochlea / vestible / semicircular canals - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Anophthalmos / anophthalmia / microphthalmos[] Myopia 25, Autosomal Dominant, Nonsyndromic MYP25 P4HA2 autosomal dominant Myopia 26, X-Linked, Female-Limited MYP26 ARR3 female limited, X-linked Myopia and Deafness DFNMYP[] The main characteristics of this condition include polyphagia, mild to moderate developmental delay, hypogonadism resulting in delayed to no puberty, Prader-Willi syndrome[]

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