Epiphyseal Dysplasia, Microcephaly, and Nystagmus
General: Autosomal recessive.
Ocular: Nystagmus; retinitis pigmentosa. 222e44c
Clinical: Epiphyseal dysplasia; microcephaly; short stature.
Lowry RB, et al. Epiphyseal dysplasia, microcephaly, nystagmus and retinitis pigmentosa. 222e44c Am J Med Genet 1989; 33: 341-345.
Lowry RB, Wood BJ. Syndrome of epiphyseal dysplasia, short stature, microcephaly, and nystagmus. Clin Genet 1975; 8:269-274.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
11q- Syndrome [...] |
Walker-Warburg Syndrome (Cerebroocular Dysplasia-Muscular Dystrophy; Warburg Syndrome; COD-MD Syndrome; Fukuyama Congenital Muscular Dystrophy; Har [...] |
Thomsen Syndrome (Congenital Myotonia Syndrome; Myotonia Congenita) General: Dominant; inheritance manifesta [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
