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248 Possible Causes for Cornea, Male Sterility, Mental Retardation

  • Laurence Moon Syndrome

    CORNEA GUTTATA DISTROFIA COMBINATA DELLA CORNEA DISTROFIA ENDOTELIALE DI FUCHS DISTROFIA CORNEALE ENDOTELIALE POSTERIORE POLIMORFA RF0280 CHERATOCONO RF0290 CONGIUNTIVITE[] Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy.[] Grand father had polydactyly, aunt (father's sister) had polydactyly with sterility.[]

  • Noonan Syndrome

    […] experience infertility (sterility).[] Br J Ophthalmol 1987, 71 : 235–8. 19 Bleshoy H : Sensitivity and neuropathology in the Keratoconic Cornea: PHD. City University, Northampton Square, London. 1990.[] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Percent of people who have these symptoms is not available through HPO Abnormality[]

  • Myotonic Dystrophy

    […] reflex. pupil dilatation See mydriatic ; pupil light reflex. ectopic pupil See corectopia. entrance pupil of the eye This is the image of the iris aperture formed by the cornea[] Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur.[] retardation and that is inherited as an autosomal dominant trait — abbreviation DM — called also Steinert's disease Comments on myotonic dystrophy What made you want to look[]

  • Prader-Willi Syndrome

    In 1976, physicians became aware that Creutzfeldt–Jakob disease could be transmitted by neurosurgical procedures and cornea transplantation.[] Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] Retardation, Vienna.[]

  • Autosomal Recessive Congenital Cataract 5

    Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[] Causes of congenital corneal opacities may be classified as primary corneal disease or secondary corneal disease.[] Chograni M, Chaabouni M, Chelly I, Helayem MB, Chaabouni-Bouhamed H: Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.[]

  • Aniridia

    (for example, tubal occlusion, hysterectomy, bilateral salpingectomy) Male partner who has had a vasectomy for at least 3 months prior to the first dose of study drug Male[] The Cornea Research Foundation and Price Vision Group have long had an interest in helping aniridia patients and are currently able to help treat patients with an artificial[] Here, we present mutation analysis of a patient with aniridia, autism and mental retardation.[]

  • Autonomic Neuropathy

    Examine for effects of reduced eye secretions (cornea). Mouth examination Look for excessive dental decay (an effect of dry month).[] Abstract Hereditary sensory and autonomic neuropathy type IV is an autosomal recessive disorder characterized by severe mental retardation and self-mutilation-related complications[] Case 2 shows loss of sensation, mental retardation, and deafness, clinically similar to patients with hereditary sensory and autonomic neuropathy type II.[]

  • Neuhauser Syndrome

    Fertil Steril 63: 1326–1328 PubMed Google Scholar Koeppen AH (1998) The hereditary ataxias.[] Ophthalmologic examination demonstrated central opacity of the left cornea and lens and iris adhesions extending from the pupillary margin to the borders of the opacity.[] Megalocornea and mental retardation syndrome. Am J Med Genet 1988;29:221-223. [ Links ] 4. Gronbech-Jensen M. Megalocornea and mental retardation syndrome: a new case.[]

  • Warburg Micro Syndrome 3

    […] infertility in blind sterile mice and Warburg micro syndrome in humans.[] Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey., Source MeSH Abnormalities, Multiple Cataract Child Cornea[] retardation, spastic diplegia, and hypogonadism.[]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] giant cell arteritis • Features expanded material on red eye and painful loss of vision, and discussion of new scientific evidence for the existence of a sixth layer of the cornea[] […] retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.[] […] gene mutation Male-limited precocious puberty Male sterility due to chromosome Y deletion Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis[]

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