Adrenoleukodystrophy (Zellweger): https://ghr.nlm.nih.gov/
Albinism, oculocutaneous : https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
Alzheimer Disease familial, type 5 : https://ghr.nlm.nih.gov/condition/alzheimer-disease#genes
Angleman Syndrome: http://www.ninds.nih.gov/disorders/angelman/angelman.htm
Burkitt Lymphoma: http://www.webmd.com/cancer/lymphoma/burkitt-lymphoma-prognosis-diagnosis-treatments
Cat Eye Syndrome: https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome
Cri-du-chat: https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
Cystic Fibrosis: https://ghr.nlm.nih.gov/condition/cystic-fibrosis
DiGeorge Syndrome: http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/definition/con-20031464
Down syndrome (Trisomy 21): http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Duchenne Muscular Dystrophy: http://kidshealth.org/en/parents/muscular-dystrophy.html
Edwards Syndrome (Trisomy 18): : http://www.trisomy18.org/what-is-trisomy-18/ http://www.webmd.com/baby/what-is-trisomy-18#1
Fabry Disease: https://ghr.nlm.nih.gov/condition/fabry-disease
Hemophilia A: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-A
Hemophilia B: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-B
Huntington’s Disease:
http://www.ninds.nih.gov/disorders/huntington/huntington.htm https://www.uihealthcare.org/adam/Default.aspx?=/HIE%20Multimedia/1/000770
http://umm.edu/health/medical/ency/articles/huntingtons-disease
Jacobson Syndrom: https://ghr.nlm.nih.gov/condition/jacobsen-syndrome
Marfan Syndrome: http://kidshealth.org/en/kids/marfan.html#cat20165
Monsomy 9p (Alfi’s Syndrome): https://rarediseases.info.nih.gov/diseases/3773/chromosome-9p-deletion
Mytonic Dystrophy: https://ghr.nlm.nih.gov/condition/myotonic-dystrophy
Neurofibromatosis:
http://www.yourgenesyourhealth.org/nf/whatisit.htm
https://rarediseases.info.nih.gov/diseases/10420/disease
Patau Syndrome or Trisomy 13
https://ghr.nlm.nih.gov/condition/trisomy-13
http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/trisomy-13-patau-syndrome.aspx
PKU: https://www.nichd.nih.gov/health/topics/pku/Pages/default.aspx
Prader-Willi Syndrome
https://www.fpwr.org/message-hope-rachel-tugon-co-founder-fpwr/
https://www.fpwr.org/about-prader-willi-syndrome
Rentinitis pigmentosa: https://nei.nih.gov/health/pigmentosa/pigmentosa_facts
Rett Syndrome
https://www.rettsyndrome.org/http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
Sickle Cell Anemiahttp://kidshealth.org/en/parents/sickle-cell-anemia.html
https://ghr.nlm.nih.gov/condition/sickle-cell-disease
Smith-Magenis Syndrome: https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome
Von Hippel-Lindau Syndrome
https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
https://www.stjude.org/disease/von-hippel-lindau.html
Wolrf Hirschhorn Syndrome
https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndromehttp://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/
Albinism, oculocutaneous : https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
Alzheimer Disease familial, type 5 : https://ghr.nlm.nih.gov/condition/alzheimer-disease#genes
Angleman Syndrome: http://www.ninds.nih.gov/disorders/angelman/angelman.htm
Burkitt Lymphoma: http://www.webmd.com/cancer/lymphoma/burkitt-lymphoma-prognosis-diagnosis-treatments
Cat Eye Syndrome: https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome
Cri-du-chat: https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
Cystic Fibrosis: https://ghr.nlm.nih.gov/condition/cystic-fibrosis
DiGeorge Syndrome: http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/definition/con-20031464
Down syndrome (Trisomy 21): http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Duchenne Muscular Dystrophy: http://kidshealth.org/en/parents/muscular-dystrophy.html
Edwards Syndrome (Trisomy 18): : http://www.trisomy18.org/what-is-trisomy-18/ http://www.webmd.com/baby/what-is-trisomy-18#1
Fabry Disease: https://ghr.nlm.nih.gov/condition/fabry-disease
Hemophilia A: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-A
Hemophilia B: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-B
Huntington’s Disease:
http://www.ninds.nih.gov/disorders/huntington/huntington.htm https://www.uihealthcare.org/adam/Default.aspx?=/HIE%20Multimedia/1/000770
http://umm.edu/health/medical/ency/articles/huntingtons-disease
Jacobson Syndrom: https://ghr.nlm.nih.gov/condition/jacobsen-syndrome
Marfan Syndrome: http://kidshealth.org/en/kids/marfan.html#cat20165
Monsomy 9p (Alfi’s Syndrome): https://rarediseases.info.nih.gov/diseases/3773/chromosome-9p-deletion
Mytonic Dystrophy: https://ghr.nlm.nih.gov/condition/myotonic-dystrophy
Neurofibromatosis:
http://www.yourgenesyourhealth.org/nf/whatisit.htm
https://rarediseases.info.nih.gov/diseases/10420/disease
Patau Syndrome or Trisomy 13
https://ghr.nlm.nih.gov/condition/trisomy-13
http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/trisomy-13-patau-syndrome.aspx
PKU: https://www.nichd.nih.gov/health/topics/pku/Pages/default.aspx
Prader-Willi Syndrome
https://www.fpwr.org/message-hope-rachel-tugon-co-founder-fpwr/
https://www.fpwr.org/about-prader-willi-syndrome
Rentinitis pigmentosa: https://nei.nih.gov/health/pigmentosa/pigmentosa_facts
Rett Syndrome
https://www.rettsyndrome.org/http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
Sickle Cell Anemiahttp://kidshealth.org/en/parents/sickle-cell-anemia.html
https://ghr.nlm.nih.gov/condition/sickle-cell-disease
Smith-Magenis Syndrome: https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome
Von Hippel-Lindau Syndrome
https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
https://www.stjude.org/disease/von-hippel-lindau.html
Wolrf Hirschhorn Syndrome
https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndromehttp://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/