Microphthalmia and Mental Deficiency
General: Autosomal recessive.
Ocular: Microphthalmia; corneal opacities.
Clinical: Severe mental retardation; spastic cerebral palsy; glycinuria; abnormally small head.
Balci L. Corneal opacity, microphthahnos, mental retardation; microcephaly, and generalized muscular spasticity associated with hyperglycinemia. Clin Genet 1974; 5:36-39.
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/.
Depresie, dureri abdominale, balonari, regurgitari, inapetenta, icter, slabire vizibila, greturi, varsaturi. Diagnostic Socul emotiv pertu [...] |
ML III (Pseudo-Hurler Polydystrophy; Mucolipidosis III) General: Autosomal [...] |
Hypertrichosis Cubiti (Hairy Elbow Syndrome) General: Auto [...] |
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? |
