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740 Possible Causes for Genetic Heterogeneity, Microphthalmos

  • Meckel Syndrome

    This is the largest and most comprehensive genomic study on MKS in Arabs and the results, in addition to revealing genetic and allelic heterogeneity, suggest that previously[] Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[] M Warburg, Classification of microphthalmos and coloboma., Journal of Medical Genetics, 10.1136/jmg.30.8.664, 30, 8, (664-669), (1993). H.M. Ramadani and H.A.[]

  • Congenital Muscular Dystrophy

    RESULTS: CMD is a group of early-onset disorders encompassing great clinical and genetic heterogeneity.[] […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[]

  • Microcornea

    CONCLUSIONS: The identification of a CRYGD mutation adds another gene to those that may be mutated in CCMC and underscores the genetic heterogeneity of this condition.[] PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos.[] CONCLUSIONS: We present a further report of the MRCS syndrome and provide evidence in support of genetic heterogeneity in this phenotype.[]

  • Fraser Syndrome

    Six families did not link to either locus, indicating genetic heterogeneity.[] Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[]

  • Laurence Moon Syndrome

    Homogeneity testing demonstrates genetic heterogeneity within our set of families.[] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[] Sheffield, Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity, Nature Genetics, 10.1038/ng1293-392, 5, 4, (392-396), (1993[]

  • Syndromic Microphthalmia Type 10

    Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous[] 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[] heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and[]

  • Hallermann-Streiff Syndrome

    A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly.[] The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[] Phenotypic heterogeneity of ZMPSTE24 deficiency. Am J Med Genet A. 2018 May;176(5):1175-1179. Christian CL, Lachman RS, Aylsworth AS, et al.[]

  • Microphthalmos

    The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected.[] First, exclusion of linkage to MFRP and chromosome 2q37.1 in family 6 suggests the presence of yet another locus for this genetically heterogeneous condition.[] Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32.[]

  • Rieger Syndrome

    It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality[] Furthermore, there is also evidence for the presence of genetic heterogeneity of the disorder within the Brazilian population.[] […] associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos[]

  • Anophthalmia - Microphthalmia 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[] Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Am J Med Genet. 2002 Jul 15;110(4):308-14.[] MAC is genetically heterogeneous. This means that there are many different causes. MAC may be associated with other anomalies (syndromal) or alone (nonsyndromal).[]

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