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377 results
  1. ... of diseases of the heart, tongue, mamma, of cataract, ichthyosis, and congenital arthritis, successfully treated with iodine. Lontl. M. Sc S. ...
  2. ... ichthyosis (OMIM 275630 ) AR Muscle weakness, exercise intolerance Congenital ichthyosis; variable multisystemic presentation w/ID, cataract, & hepatic steatosis PNPLA2 Neutral lipid storage disease with ...
  3. ... features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts ); poor coordination; and skeletal abnormalities including degeneration of ...
  4. ... features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of ...
  5. ... on light microscopy Skin hypersensitivity to sun ... cataract FAM126A AR Diffuse hypomyelination on brain MRI Onset ...
  6. NLM Digital Collections - Integrated authority file : IAF 
    Publication: [Bethesda, Md.] : U.S. Dept. of Health, Education, and Welfare, Public Health Service, National Institutes of Health, 1974
    ... Franceschetti's syndrome (1) (SYN) X CORNEAL DYSTROPHIES X ICHTHYOSIS/congenital ... HULTIPLE a CATARACT/conqenital N SKULL/abnormalities N DWARFISM P SYNDROME ...
  7. NLM Digital Collections - MEDLARS indexing and searching aids 
    Publication: Springfield, Va. : National Technical Information Service, 1972
    ... ABNORMALITIES (IM) Franceschetti's syndrome (1) CORNEAL DYSTROPHIES (IM) ICHTHYOSIS ... Congenital (IM) ABNORMALITIES, MULTIPLE (IM) DWARFISM (NIM) ATROPHY ( ...
  8. ... Linsensubstanz. Ibid., 311-319; 1879, xvii, 307-317. Cataract (Congenital). Blancard (M.-C.) * Quelques considerations sur la cataracte ... Brit. M. J., I.ond., CATARACT. 753 CATARACT. Cataract (Congenital). 1876 i, 279; 313. Also, transl.: Cong. p6riod. ...
  9. ... ichthyosis</title><other_names ><other_name >Autosomal recessive congenital ichthyosis 4B</other_name><other_name >HI</other_name>< ... HHCS</other_name><other_name >Hereditary hyperferritinemia with congenital ... >Hereditary hyperferritinemia-cataract syndrome</ ...
  10. ... Neonatal Jaundice, Neonatal Jaundice, Chronic Idiopathic Hyperostosis, Cortical, Congenital Ichthyosis Ichthyosiform Erythroderma, Congenital Hyperkeratosis, Epidermolytic Ichthyosis, Lamellar Netherton ...
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