1. Achromatopsia OMIM achromatopsia genetics division, Online Mendelian Inheritance in Man, of NationalInstitutes of Health provides scientific information about the disorder http://rarediseases.about.com/cs/achromatopsia/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Achromatopsia Guide picks Achromatopsia is a rare hereditary vision disorder which results in poor visual acuity (can't see well) and colorblindness. The Achromatopsia Network Offers information, support, networking, and book reviews. Achromatopsia - Personal Information Commentary on an essay provides information about the disorder. Colour Vision Defects Information about color blindness and visual defects. OMIM - Achromatopsia Genetics division, Online Mendelian Inheritance in Man, of National Institutes of Health provides scientific information about the disorder. Vision in a Complete Achromat: A Personal Account Autobiographical information from someone with the disorder. Email this page!

2. Achromatopsia And The Underlying Bioelectrochemistry General Resources. Genetic diseases. achromatopsia. Cancer genetics. Albinism. Alport Syndrome http://www.4colorvision.com/clinical/achromatopsia.htm

DETERMINING THE BIOLOGICAL (FUNCTIONAL) LOCUS OF ACHROMATOPSIA AS A SYNDROME based on PROCESSES IN BIOLOGICAL VISION by JAMES T. FULTON Last Update 01 Nov 01 Rhodonine and Activa are trademarks A CAUTION There must be a distinct line between the medical and biological aspects of syndromes as serious as achromatopsia. This material should not be considered medical advice. Subjects aware of this syndrome should speak with their doctor. This webpage does not offer any alleviation of these symptoms in the near future. Because of the currency of some of the material presented below, students subject to rote testing based on the content of their textbooks are encouraged to review the Cautions Page before proceeding. Others may find the material controversial. However, the results speak for themselves. INTRODUCTION Achromatopsia (with an s) is a stationary congenital disease that is easily recognized in the clinic. It typically presents four different individual symptoms: Photophobia Nystagmus Amblyopia Achromatopia (without an s) However, the severity of these individual symptoms may vary from very severe (complete) cases to less severe (incomplete) cases. The incomplete cases can vary widely.

3. Achromatopsia Refined genetic mapping of achromatopsia on chromosome 2q11q12. N.C. Arbour 1 , J. Zlotogora 2 , E.M. Stone 3 , and V.C. Sheffield1, 4 . outside of the achromatopsia gene interval using the radiation hybrid panel Genebridge 4 (Research genetics). Two other http://www.ssc.mhie.ac.uk/eyeconds/Achro.htm

Medical Information on Achromatopsia For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: The way the eyes and brain normally work to make 'vision' The reason why vision may become impaired by a specific condition The cause of the condition The effects of the condition on the child's vision How the condition is diagnosed What can be done to help This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this information is not for This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.

4. Achromatopsia Image that's a link to genetics Education Center Support Page achromatopsia.rod monochromacy and blue cone monochromacy achromatopsia http://www.kumc.edu/gec/support/achromat.html

Achromatopsia rod monochromacy and blue cone monochromacy Achromatopsia Network P.O. Box 214 Berkeley, CA 94701-0214 USA E-mail: Editor@achromat.org (Frances Futterman, network facilitator) Vision disorder, including both rod monochromacy and blue cone monochromacy. Also information on other vision disorders with similar visual manifestations, such as hypersensitivity to light and color vision deficiency Book, Understanding and Coping with Achromatopsia Book, Living with Achromatopsia Book, Complete Colorblindness PBS documentary, Island of the Colorblind Book, The Island of the Colorblind , by Oliver Sacks Also See: National Genetic Organizations and Lay advocacy Groups To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

5. Mendelian Genetics us/ curr/ Science/ core/ bio/ genetics/ achondroplasia. htm. achromatopsia Hereditary vision disorder http://hoflink.com/~house/MendelGen.html

Mendelian Genetics Table of Contents Click on subject to scroll to area Basics, Introductions Cancer Chromosomes, Karyotypes Disorders ... Genetics, Drosophila Basics, Introductions, Hyperlinks Chi Square Test http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel4.htm Chi Square Test and Others http://www.cwu.edu/~millerj/stathelp/proportional.html Chi Square Test with Tables http://www.cc.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel4.htm Conservation Genetics: Application http://gslc.genetics.utah.edu/units/basics/conservation/when.cfm Conservation Genetics: Defined http://gslc.genetics.utah.edu/units/basics/conservation/ Conservation Genetics: Management http://gslc.genetics.utah.edu/units/basics/conservation/done.cfm Genetic Basics and Beyond http://gslc.genetics.utah.edu/units/basics/tour/ Genes broad overview http://people.ku.edu/~jbrown/gene.html Genetic Careers and Resources http://bioweb.uwlax.edu/GenWeb/Student_Resour/student_resour.htm Genetic Diversity: Loss http://gslc.genetics.utah.edu/units/basics/conservation/drift.cfm Genetic Prospects for New Developments http://www.rrz.uni-hamburg.de/biologie/b_online/e14/14.htm

6. Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professional Category Health Conditions and Diseases Genetic Disorders......Genetic and Rare Conditions Site Medical genetics, University of Kansas Revised March12, 2003 Aarskog syndrome; Achondroplasia; achromatopsia; Acoustic neuroma http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

7. HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED About the Book Understanding and Coping with achromatopsia This 155page, spiral bound book, first published in 1998 and updated in 2002, presents a substantial amount of helpful and interesting information pertaining to achromatopsia. monochromacy. The genetics of blue cone monochromacy. Achromats who see color. Getting diagnosed. achromatopsia in print http://www.hum-molgen.de/bb/Forum7/HTML/000018.html

home genetic news bioinformatics biotechnology ... register for news alert ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED June, 30 2000 0:25 The island of the colourblind In 1775, the western Pacific island of Pingelap was battered by Typhoon Lengkieki, killing 90% of the population-and many of those who survived the storm died after the ensuing famine. Only a few individuals remained to repopulate the island. One man had a rare mutation which he passed on to his descendants, who by the twentieth century represented a large fraction of the island's population. The mutation led to a condition known as achromatopsia, or total colourblindness, in which affected individuals have a complete inability to distinguish colours and see only in shades of grey. The story of the Pingelapese islanders is recounted in the 1998 book Island of the Colourblind by Oliver Sacks and a BBC documentary of the same title. CONTACTS: Dr. Olof Sundin Johns Hopkins University School of Medicine Department of Ophthalmology Baltimore, Maryland

8. HUM-MOLGEN: ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED 1969 to start the hunt for the gene mutated in the islanders' achromatopsia. an essentialcomponent of the eye's photoreceptor apparatus (Nature genetics, Vol. http://www.hum-molgen.de/NewsGen/06-2000/msg12.html

home genetic news bioinformatics biotechnology ... register for news alert ACHROMATOPSIA (TOTAL COLOURBLINDNESS) GENE IDENTIFIED June, 30 2000 0:25 The island of the colourblind In 1775, the western Pacific island of Pingelap was battered by Typhoon Lengkieki, killing 90% of the population-and many of those who survived the storm died after the ensuing famine. Only a few individuals remained to repopulate the island. One man had a rare mutation which he passed on to his descendants, who by the twentieth century represented a large fraction of the island's population. The mutation led to a condition known as achromatopsia, or total colourblindness, in which affected individuals have a complete inability to distinguish colours and see only in shades of grey. The story of the Pingelapese islanders is recounted in the 1998 book Island of the Colourblind by Oliver Sacks and a BBC documentary of the same title. CONTACTS: Dr. Olof Sundin Johns Hopkins University School of Medicine Department of Ophthalmology Baltimore, Maryland

9. Human Molecular Genetics: May 1997 (Volume 6, No 5) Rokhlina, EM Stone and VC Sheffield Homozygosity mapping of achromatopsia to chromosome HumanMolecular genetics is a monthly journal of original peerreviewed http://www.hum-molgen.de/journals/HMG/0034.html

home genetic news bioinformatics biotechnology ... Search - prev / next Human Molecular Genetics: May 1997 (Volume 6, No 5) May 01, 1997 virtual library in human genetics and molecular biology Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA Oxford University Press Date of publishing: May, 1997 ISSN 0261 - 4189SSN 1964-6906 ARTICLE S K Heath, S Carne, C Hoyle, K J Johnson and D J Wells Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus P. 651 REPORTS R Morell, R A Spritz, L Ho, J Pierpont, W Guo, T B Friedman and J H Asher Jr Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA) P. 659 M Litt, R Carrero-Valenzuela, D M LaMorticella, D W Schultz, T N Mitchell, P Kramer and I H Maumenee Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta crystallin gene CRYBB2 P. 665 L Pulkkinen, V E Kimonis, Y Xu, E N Spanou, W H I McLean and J Uitto Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia P. 669

10. Achromatopsia Links to information, resources, and support for achromatopsia. Online Mendelian Inheritance in Man achromatopsia. genetics division of National Institutes of Health provides http://lupus.about.com/msub2.htm

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Achromatopsia Rare hereditary vision disorder which results in poor visual acuity and color blindness The Achromatopsia Network Information, support, networking, and book reviews. Achromatopsia - Personal Information Commentary on an essay provides information about the disorder. Colour Vision Defects Information about color blindness and visual defects. Online Mendelian Inheritance in Man - Achromatopsia Genetics division of National Institutes of Health provides scientific information about the disorder. Vision in a Complete Achromat: A Personal Account Autobiographical information from someone with the disorder. Email this page!

11. ABOUT THE BOOK, UNDERSTANDING AND COPING WITH ACHROMATOPSIA Inheritance factors; The genetics of rod monochromacy; The genetics of blue conemonochromacy; Achromats who see color; Getting diagnosed; achromatopsia in print; http://www.achromat.org/uc_book.html

About the Book Understanding and Coping with Achromatopsia This 155-page, spiral bound book, first published in 1998 and updated in 2002, presents a substantial amount of helpful and interesting information pertaining to achromatopsia. This is a very useful book not only for individuals and families who are affected by this rare vision disorder but also for vision care professionals, special education teachers, counselors, and other professionals who work with the visually impaired. The information that is included in this book was gathered in various ways, including input from members of the Achromatopsia Network, library research, and consultations with specialists in different fields. The author, Frances Futterman, has complete achromatopsia. She serves as facilitator of the network and also editor and reporter for the Achromatopsia Network Journal. Following are titles from the Table of Contents page of Understanding and Coping with Achromatopsia: What is achromatopsia? What is it like to have achromatopsia? Comparing achromatopsia with other vision disorders Individual differences Vision and coping strategies of a complete achromat Inheritance factors The genetics of rod monochromacy The genetics of blue cone monochromacy Achromats who see color Getting diagnosed Achromatopsia in print About being colorblind Adapted lifestyles and adapted environments Orientation and mobility Accommodations in the workplace and elsewhere Vocational choices for persons with achromatopsia Social and psychological aspects of achromatopsia

12. ABOUT THE BOOK, COMPLETE COLORBLINDNESS poor vision; The genetics of complete colorblindness; Achromatopisain print; The achromatopsia Network; Suggested references. This book http://www.achromat.org/cc_book.html

About the Book Complete Colorblindness: Information for students, reporters, and others who wish to learn about this extraordinary way of seeing. This 50-page, spiral bound book (8 1/2" X 11") brings together some of the material from the book, Understanding and Coping with Achromatopsia, and some of the material from the book, Living with Achromatopsia. It is intended primarily for persons who wish to learn about this rare vision disorder but who do not need to have as much information as do individuals and families who are actually affected by the condition or professionals serving the visually impaired. The author, Frances Futterman, has complete achromatopsia and serves as facilitator of the Achromatopsia Network. The term "achromatopsia" means "without color vision." Persons affected by this vision disorder experience other kinds of vision problems in addition to their lack of color vision, and information about all of this is included in this book. Following are titles from the Table of Contents page of this book: What is achromatopsia?

13. Birth Defects Genetics Teratology Other Key Information Sources Birth Defects genetics - Teratology. Other Key Information Sources Aarskog syndrome achromatopsia Acoustic neuroma Adrenal hyperplasia http://www.ibis-birthdefects.org/start/inform.htm

Tips for printing Birth Defects - Genetics - Teratology Other Key Information Sources About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [Italian] Information Sources [**][P] Online Mendelian Inheritance in Man OMIM ... GeneClinics List of all the diseases described in the GeneClinics Health Topics A to Z CDC Centers for Disease Control and Prevention Neonatal Diseases and Abnormalities (Mega-Portal) [French] [English] ORPHA net. Search for a drug PEDINFO: An Index of the Pediatric Internet Office of Rare Diseases Genetics Education Center ... Genetics Disorders Search Engine By About.com Office of Rare Diseases National Institutes of Health Clinical Research Database National Institute of Neurological Disorders and Stroke Publications ... Aicardi Syndrome ... Anencephaly ... Angelman Syndrome ... Endocrine Society Fact Sheets Alphabetical List of Specific Diseases/Disorders Karolinska Institutet, Stockholm, Sweden. Links Of Interest In Embryology And Developmental Biology Nursing Health and Medicine Developmental (Pediatric) Neurosurgery Information Links Musculoskeletal Diseases (Mega-Portal) ... A Catalogue of Web pages describing particular abnormalities diagnosable by ultrasound [Italian][P][**] INDICE delle malattie CHORUS Collaborative Hypertext of Radiology Medical College of Wisconsin ...

14. Applied Biosystems - BioBeat - Suite Of Applied Biosystems Products Helps Clone As noted previously, it was this group that had identified the achromatopsia geneon chromosome 2 (CNGA3) in 1998 Nature genetics 19 257259, 1998 Medline http://www.appliedbiosystems.com/biobeat/colorblind/

Products MSDS Store BioBeat Subscribe Contact Breakthroughs ... Awards Mystery of Total Color Blindness on Pacific Atoll Finally Solved By Michael D. O'Neill In culmination of research work that began over three decades ago, Dr. Irene Hussels Maumenee and colleagues at the Johns Hopkins University School of Medicine, have determined the underlying molecular cause of a form of hereditary total color blindness ( achromatopsia ) that afflicts a significant portion of the native population on the Pacific atoll of Pingelap [ Nature Genetics , July 2000)] [ Medline abstract Aided by technology from Applied Biosystems, Dr. Maumenee's group has shown that the cause of this disease in the Pingelapese islanders is a single base change in a gene the scientists identified within the achromatopsia disease gene region on chromosome 8. This newly identified gene ( ) codes for a subunit of an ion channel in the cone photoreceptors in the eye. Specifically, the mutation is a missense mutation [a cytosine (C)-to-thymidine (T) substitution] that causes a serine-to-phenylalanine amino-acid change at a highly conserved site in the sixth membrane-spanning domain of the beta subunit of the cone photoreceptor cyclic guanosine monophosphate (cGMP)-gated cation channel. This channel constitutes a central component of the light-signaling pathway in cone photoreceptors (see

15. How Do People Inherit Colorblindness? How Often? achromatopsia is a form of colorblindness characterized by the total loss of allcolor vision. Related pages Appearance Types genetics Testing. Look for http://webexhibits.org/causesofcolor/2C.html

Related pages: Appearance Types Genetics Testing Classification Incidence (%) Males Females Anomalous Trichromacy Protanomaly (L-cone defect) Deuteranomaly (M-cone defect) Tritanomaly (S-cone defect) Dichromacy Protanopia (L-cone absent) Deuteranopia (M-cone absent) Tritanopia (S-cone absent) Rod Monochromacy (no cones) Most kinds of congenital colorblindness are caused by defects in the X chromosome. Since females have two X chromosomes and males have an X chromosome and a Y chromosome, colorblindness is much more common in males: females must have defects in both chromosomes before they exhibit colorblindness. A female with the colorblindness defect in one X chromosome is a carrier of colorblindness. Male children of a female carrier are as likely to be colorblind as male children of a male with colorblindness, and male children of a male with colorblindness and a female carrier are extremely likely to be colorblind. Approximately 5% to 8% of the men and 0.5% of the women of the world are born colorblind. That's as high as one out of twelve men and one out of two hundred women. People who are protans (red weak) and deutans (green weak) comprise 99% of this group. Molecular genetics The M- and L-cone photopigment genes lie in a head to tail tandem array on the q-arm of the X-chromosome.

16. What Causes Colorblindness? Related pages Appearance Types genetics Testing. For example, achromatopsia,the loss of all color vision, can be acquired as a result of brain damage http://webexhibits.org/causesofcolor/2B.html

Related pages: Appearance Types Genetics Testing Causes of colorblindness An unusual type of colorblindness occurs in the mind, not the eye. This is a drawing of a patient who was unable to see the world in color after a cerebral accident. The patient was an artist, and the drawings were made from memory. The drawings represent (clockwise): a banana, a tomato, a cantaloupe and leaves. Interestingly, this is analogous to the luminance-based paintings of some Picasso paintings. In most colorblindness, the person has a different mixture of cones from normal. The cone cells on the retina are the crucial physical components in seeing color. People with normal color perception have three different cones, each cone is tuned to perceive mostly either Long wavelengths (reddish), Middle wavelengths (greenish), or Short wavelengths (bluish), referred to as L-, M-, and S- cones. Our minds determine what "color" we are seeing by determining the ratio between signals from different types of cones. In people with colorblindness, either a type of cone is missing, or the cone has a different peak absorption from normal. Congenital color vision deficiencies overwhelmingly affect the L-cones or the M-cones. Full color blindness and insensitivity to blue light are relatively rare. L-cone and M-cone deficiencies are collectively known as red-green colorblindness, because they reduce the ability to distinguish those two colors. Yellow-blue colorblindness stems from the much rarer deficiencies involving the S-cones.

17. BU Bridge Research Briefs - 13 August 1999 Researchers say that the discovery of a second gene for achromatopsia provides newinsights into the genetics of vision and color vision and will facilitate http://www.bu.edu/bridge/archive/1999/08-13/research.html

Departments Research Briefs In the News Bulletin Board Health Matters Contact Us ... Advertising Rates 13 August 1999 Vol. III, No. 3 Research Briefs Gene for rare vision disorder identified. BU School of Medicine researchers have identified the second chromosomal position for the recessive gene that causes achromatopsia. People suffering from this rare genetic disorder cannot see any color at all and are regarded as legally blind. Photophobia (abnormal sensitivity to light), extreme nearsightedness, and uncontrollable movement of the eyes are other features of the disorder. Dr. Aubrey Milunsky , BUSM professor of human genetics and pediatrics and director of the Human Genetics Center, studied a unique family in which 5 of 12 children were affected with achromatopsia, which enabled the researchers to detect the locus of this rare gene, which maps to chromosome 8q. The research team also suspected that three of the children, who suffered from mental retardation in addition to achromatopsia, might also somehow be affected by the action of this gene. However, Milunsky explains, "We found no linkage to the 8q locus thus far, and a thorough evaluation, including an X-chromosome study using DNA probes, did not reveal a locus on the X-chromosome or a related or contiguous gene." Researchers say that the discovery of a second gene for achromatopsia provides new insights into the genetics of vision and color vision and will facilitate development of therapeutic approaches for this rare and debilitating disorder. The report appears in the July issue of the journal Clinical Genetics.

18. Nature Publishing Group month in Nature genetics, Sundin and colleagues 3 report the identification of thecausative gene for a fascinating disorder known as achromatopsia, a visual http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v6/n7/full/nm0700_74

19. Genetic Basis Of Total Colourblindness Among The Pingelapese Islanders Two independent frameshift deletions establish that achromatopsia is the null 1.Laboratory of Developmental genetics, Johns Hopkins University School of http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v25/n3/abs/ng0700_28

20. Ask NOAH About: Genetic Disorders achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation AlexanderDisease OtoRenal (BOR) Syndrome Cancer genetics Cephalic Disorders http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html

Ask NOAH About: Genetic Disorders Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Diseases? Genetics Basics The Basics Glossaries Children ... Living with Genetic Diseases Specific Conditions Achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation ... Information Resources What Are Genetic Diseases? Genetics Basics The Basics Birth Defects - Merck Manual, Home Edition Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... What are Genetic Disorders? - U of Utah

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