Complete List of Genetic Conditions (with links)

 

BLOG UNDER CONSTRUCTION ! THANK YOU FOR YOUR PATIENCE !








1p36 deletion syndrome  
(Monosomy 1p36 syndrome, distal monosomy 1p36 , chromosome 1p36 deletion syndrome)

Information about 1p36 Deletion Syndrome:

http://en.wikipedia.org/wiki/1p36_deletion_syndrome
http://www.1p36dsa.org/   
http://www.1p36.com/   
http://www.medicinenet.com/1p36_deletion_syndrome/article.htm  
http://www.ncbi.nlm.nih.gov/books/NBK1191/

Faces and stories of 1p36 Deletion Syndrome: 

Whitney:  http://raisingadisabledchild.blogspot.com/
Carter:        http://carterthorup1p36.blogspot.com/ 
Taylor:       http://taylorsadventureswith1p36.blogspot.com/
Alayna:      http://alaynadekeyrel.blogspot.com/
Uisneach: http://uisneach-1p36.blogspot.com/

You tube links:

http://www.youtube.com/watch?v=esG72bOp-_I&feature=related
http://www.youtube.com/watch?v=42zgo5DbjfY
http://www.youtube.com/watch?v=uGvvqb3Rs-8&feature=related


18p Deletion Syndrome

Information about 18p Deletion Syndrome: 

http://en.wikipedia.org/wiki/18p_deletion_syndrome
http://www.chromosome18.org/Conditions/18p/tabid/126/Default.aspx
http://www.biomedcentral.com/1471-2350/7/60
http://www.rightdiagnosis.com/medical/chromosome_18p_deletion_syndrome.htm
http://children.webmd.com/chromosome-18-monosomy-18p


21-hydroxylase Deficiency 
(CAH1, CYP21 deficiency, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency)

Information about 21-hydroxylase Deficiency: 

http://en.wikipedia.org/wiki/21-hydroxylase_deficiency
http://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency
http://www.ncbi.nlm.nih.gov/books/NBK1171/
http://www.annualreviews.org/doi/abs/10.1146/annurev.me.35.020184.003245
http://www.hopkinschildrens.org/cah/


22q11.2 Deletion Syndrome 
(Autosomal dominant opitz G/BBB syndrome, CATCH22, Cayler cardiofacial syndrome, Conotruncal anomaly face syndrome(CTAF), DiGeorge Syndrome, Sedlackova syndrome, Shprintzen syndrome, VCFS, Velocardiofacial syndrome)

Information about 22q11.2 Deletion Syndrome:

http://en.wikipedia.org/wiki/22q11.2_deletion_syndrome
http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
http://www.22q.org/
http://www.ncbi.nlm.nih.gov/books/NBK1523/
http://www.circleofmoms.com/22q112-deletion-digeorge-syndrome-vcfs

Faces and stories of 22q11.2 deletion syndrome:

Teralynn: http://tonyachromosome22.blogspot.com/2010/12/websites.html
Sophia:     http://iheartsophia.wordpress.com/blog/b
Brynlyn:    http://www.brynlyn.blogspot.com/
Isaac:        http://rollersinvegas.blogspot.com/
Ramona:   http://ramonamae.com/the-begining-of-the-story/

You tube links: 

http://www.youtube.com/watch?v=IQUIclwYVhI
http://www.youtube.com/watch?v=ljolb_QAcW0&feature=related


Aceruloplasminemia 
(familial apoceruloplasmin deficiency, hereditary ceruloplasmin deficiency, hypoceruloplasminemia, systemic hemosiderosis due to aceruloplasminemia)

Information about Aceruloplasminemia:

http://en.wikipedia.org/wiki/Aceruloplasminemia
http://ghr.nlm.nih.gov/condition/aceruloplasminemia 
http://www.ncbi.nlm.nih.gov/books/NBK1493/
http://www.medterms.com/script/main/art.asp?articlekey=13524
http://www.ajcn.org/content/67/5/972S.full.pdf

You tube links: 

http://www.youtube.com/watch?v=waH4KPZpcJ0



Achondrogenesis
(Achondrogenesis syndrome)

Information about Achondrogenesis:

http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm
http://emedicine.medscape.com/article/941176-overview
http://en.wikipedia.org/wiki/Achondrogenesis
http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/876/viewAbstract


Achondroplasia 

(ACH, dwarfism, Achondroplastic dwarfism, Chondrodystrophia fetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf, achondroplastic, Osteosclerosis congenital)

Information about Achondroplasia:

http://en.wikipedia.org/wiki/Achondroplasia
http://www.medicinenet.com/achondroplasia/article.htm
http://emedicine.medscape.com/article/941280-overview
http://ghr.nlm.nih.gov/condition/achondroplasia
http://www.achondroplasia.co.uk/

Faces and stories of achondroplasia:

Knoah:   http://knoahsarc.org/

You tube links: 

http://www.youtube.com/watch?v=8FVeAosIEbs&feature=related
http://www.youtube.com/watch?v=pFhMolRQJjo&feature=related
http://www.youtube.com/watch?v=YHT-eJUS0zI&feature=related
http://www.youtube.com/watch?v=iC5B3zU0Iv0&feature=related




Adams–Oliver Syndrome

(AOS)

 Information about Adams- Oliver Syndrome:

http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome
http://www.aosupport.org/
http://rarediseases.info.nih.gov/GARD/Condition/5739/Adams_Oliver_syndrome.aspx
http://children.webmd.com/adams-oliver-syndrome
http://www.alldiseases.org/what-is-adams-oliver-syndrome/


Faces and stories of Adams- Oliver Syndrome:


Isaiah:  http://isaiahupdates.blogspot.com/search?updated-min=2008-01-01T00:00:00-06:00&updated-max=2009-01-01T00:00:00-06:00&max-results=42
Kyle:  http://aosupport.org/kyle.htm
Daisy:  http://dottydaisy.blogspot.com/
Brenden: http://www.aosupport.org/brenden.htm
Anouk:  http://www.aosupport.org/anouk.htm


You tube links:
 
http://www.youtube.com/watch?v=Vuzs_xbc4IU&feature=related

 
Adenylosuccinate Lyase Deficiency 
(AMPS, ASASE, ASL)

Information about adenylosuccinate Lyase Deficiency:

http://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency
http://www.rightdiagnosis.com/a/adenylosuccinate_lyase_deficiency/intro.htm
http://www.medlink.com/medlinkcontent.asp
http://www.ncbi.nlm.nih.gov/pubmed/16839792

Faces and stories of adenylosuccinate Lyase Deficiency:

Ashley and Hope:  


Adrenoleukodystrophy 
(X-linked adrenoleukodystrophy, Adrenomyeloneuropathy, ALD (Adrenoleukodystrophy), Schilder-Addison Complex, X-ALD)

Information about Adrenoleukodystrophy:

http://my.clevelandclinic.org/disorders/adrenoleukodystrophy/hic_what_is_adrenoleukodystrophy.aspx
http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy
http://www.rightdiagnosis.com/a/adrenoleukodystrophy/intro.htm
http://children.webmd.com/adrenoleukodystrophy

Faces and stories of Adrenoleukodystrophy:


Joey:   http://www.joejohnson.net/leukodystrophy_connections.htm
"Lorenzo" :   http://medicaltechnologyavenue.blogspot.com/2009/01/lorenzos-adrenoleukodystrophy.html

You tube links: 

http://www.youtube.com/watch?v=n0jRE0_1oVQ
http://www.youtube.com/watch?v=CxkylRxJxh8&feature=related


Aicardi syndrome

(agenesis of corpus callosum with chorioretinal abnormality, agenesis of corpus callosum with infantile spasms and ocular abnormalities, callosal agenesis and ocular abnormalities, chorioretinal anomalies with ACC)

Information about Aicardi Syndrome:

http://www.aicardisyndrome.org/site/node/1
http://en.wikipedia.org/wiki/Aicardi_syndrome
http://emedicine.medscape.com/article/941426-overview
http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm

Faces and stories of  Aicardi Syndrome:

Alexis: http://www.aicardisyndrome.org/site/node/146
Abigayle: http://www.aicardisyndrome.org/site/node/589
Sadie: http://sadiemccann.blogspot.com/p/aicardi-syndrome-and-what-it-means-for.html
Sloane: http://pasherfamily.wordpress.com/about-sloane/
Carson: http://www.aicardisyndrome.org/site/node/331

You tube links:

http://www.youtube.com/watch?v=lVntKk_QSUs
http://www.youtube.com/watch?v=fHbPBqKxU8I
http://www.youtube.com/watch?v=NcRWyYNhhhk
http://www.youtube.com/user/TheOneragingbull?feature=watch#p/u/2/_rkqC6G2UMw
http://www.youtube.com/watch?v=I5JSWMsqFlk




Alagille Syndrome

(Alagille's syndrome, Alagille-Watson Syndrome, arteriohepatic dysplasia (AHD), cardiovertebral syndrome, cholestasis with peripheral pulmonary stenosis, hepatic ductular hypoplasia, hepatofacioneurocardiovertebral syndrome, paucity of interlobular bile ducts,Watson-Miller syndrome)

Information about Alagille Syndrome:

http://en.wikipedia.org/wiki/Alagille_syndrome
http://www.alagille.org/
http://childrennetwork.org/families/ags.html
http://www.liverfoundation.org/abouttheliver/info/alagille/

Faces and stories of Alagille Syndrome:


Sasha Bella:  http://sashabella.com/
Olivia:  http://oliviahuelsbergen.blogspot.com/
Owen & Cole:  http://www.thesiriannifamily.blogspot.com/
Sophie:  http://www.wanganuichronicle.co.nz/news/a-new-liver-her-first-meal-now-sophie-is-learning-/1138533/#.TpkcFFSbpWY.facebook
Gage:  http://tgmama0611.wordpress.com/category/alagille/

You tube links:

http://www.youtube.com/watch?v=MSvCYVZiePk
http://www.youtube.com/watch?v=CFvcsSjIfVA&feature=related



Alexander Disease 

(ALX, AxD, demyelinogenic leukodystrophy, dysmyelinogenic leukodystrophy, Fibrinoid degeneration of astrocytes, leukodystrophy with Rosenthal fibers)

Information about Alexander Disease:

http://en.wikipedia.org/wiki/Alexander_disease
http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm
http://www.ncbi.nlm.nih.gov/books/NBK1172/
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract
http://www.healthline.com/galecontent/alexander-disease

Faces and stories of Alexander Disease:

Emilee:  http://prayers4emilee.com/

You tube links:    

http://www.youtube.com/watch?v=RGL6v6E1N_g 



Alkaptonuria
(AKU, Alkaptonuric ochronosis, Ochronotic arthritis, Ochronosis,Homogentisic acidura, Homogentisic acid oxidase deficiency)

Information about Alcaptonuria:

http://ghr.nlm.nih.gov/condition/alkaptonuria
http://www.alkaptonuria.info/
http://www.rightdiagnosis.com/a/alkaptonuria/intro.htm



Alpha 1 - Antitrypsin Deficiency 
(AAT, AATD, alpha-1 proteinase inhibitor deficiency, alpha-1 related emphysema, genetic emphysema, hereditary pulmonary emphysema, inherited emphysema,)

Information about Alpha 1 - antitrypsin deficiency:

http://emedicine.medscape.com/article/295686-overview
http://www.alpha1.org/
http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html
http://www.alpha1awareness.org.uk/welcome.htm

Faces and stories of Alpha 1 - antitrypsin deficiency:

Grace & Meghan:  http://www.caringbridge.org/wi/alphagirls/ 

You tube links: 

http://www.youtube.com/watch?v=2gwYlYogkWs
http://www.youtube.com/watch?v=S2u95yoK6BA&feature=related



Αlpha-Mannosidosis

(alpha-D-mannosidosis, alpha-mannosidase B deficiency, alpha-mannosidase deficiency, lysosomal alpha B mannosidosis, lysosomal alpha-D-mannosidase deficiency, mannosidosis)


Information about alpha-mannosidosis:


http://ghr.nlm.nih.gov/condition/alpha-mannosidosis#definition
http://en.wikipedia.org/wiki/Alpha-mannosidosis
http://www.ncbi.nlm.nih.gov/books/NBK1396/
http://www.ojrd.com/content/3/1/21
https://www.counsyl.com/diseases/alpha-mannosidosis/


Faces and stories of alpha-mannosidosis:


Robert:  http://www.ismrd.org/our_stories/roberts_road_to_recovery\
Luke:  http://lukechaplin.wordpress.com/blog/
Saffy: http://saffysbmt.blogspot.com/
Dylan: http://www.tongefamily.com/dylantonge/bmt/?page_id=2
Timothy & Hollie: http://www.ldnz.org.nz/family_stories/tim_and_hollie_forman




Alpha Thalassemia

(α-thalassemia, alpha-thalassemia)

Information about Alpha Thalassemia:

http://ghr.nlm.nih.gov/condition/alpha-thalassemia#synonyms
http://www.ncbi.nlm.nih.gov/books/NBK1435/
http://en.wikipedia.org/wiki/Alpha-thalassemia
http://www.alphathalassemia.net/
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalapth.html



Alstrom Syndrome
(ALMS, Alstrom-Hallgren syndrome, Alstrom syndrome)

Information about Alstrom Syndrome:

http://www.alstrom.org/
http://en.wikipedia.org/wiki/Alstr%C3%B6m_syndrome
http://www.alstrom.org.uk/
http://www.medterms.com/script/main/art.asp?articlekey=20241
http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm

You tube links: 

http://www.youtube.com/watch?v=x2INO_G6kwE
http://www.youtube.com/watch?v=d2mtR1KtvX4&feature=related


Alzheimer's Disease 
(AD, Alzheimer dementia (AD), Alzheimer sclerosis, Alzheimer's Disease, Alzheimer syndrome, Alzheimer-type dementia (ATD), DAT-Dementia Alzheimer's type,  Early-Onset familial alzheimer disease {EOFAD},  familial Alzheimer disease (FAD), Late-onset familial Alzheimer disease (AD2), Late-onset Alzheimer disease Presenile and senile dementia, Primary Senile Degenerative Dementia, SDAT)

Information about Alzheimer's Disease:

http://www.alz.org/alzheimers_disease_what_is_alzheimers.asp
http://www.nlm.nih.gov/medlineplus/alzheimersdisease.html
http://www.cognifit.com/alzheimer-disease
http://www.alzheimers-disease.net/

Faces and stories of Alzheimer's Disease:

http://alzheimersdad.blogspot.com/
http://sherizeee.blogspot.com/
http://aforgottendaughter.blogspot.com/p/about-me.html
http://drivingmydad.blogspot.com/
http://yournameisjack.blogspot.com/2010/12/and-i-will-sing-lullabye.html

You tube links: 

http://www.youtube.com/watch?v=q1BkfV2h09g
http://www.youtube.com/watch?v=LjD5IP7PxV0&feature=relmfu
http://www.youtube.com/watch?v=SETp2rOFK9E&feature=relmfu
http://www.youtube.com/watch?v=9Wv9jrk-gXc
http://www.youtube.com/watch?v=kdi2oUB4VSU&feature=relmfu


Amelogenesis Imperfecta
(AI, Congenital enamel hypoplasia)

Information about Amelogenesis Imperfecta:

http://en.wikipedia.org/wiki/Amelogenesis_imperfecta
http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta
http://www.nlm.nih.gov/medlineplus/ency/article/001578.htm
http://www.dentistry.unc.edu/research/defects/
http://www.mchoralhealth.org/PediatricOH/mod3_5_4.htm


Amyotrophic Lateral Sclerosis
(ALS, autosomal dominant juvenile ALS, autosomal recessive form of juvenile ALS type 3, juvenile amyotrophic lateral sclerosis, Charcot disease, Lou Gehrig's disease, dHMN, FALS, familial amyotrophic lateral sclerosis, Motor neuron disease, amyotrophic lateral sclerosis) 

Information about Amyotrophic Lateral Sclerosis:

 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm
http://www.nlm.nih.gov/medlineplus/amyotrophiclateralsclerosis.html
http://www.alsa.org/
http://www.mayoclinic.com/health/amyotrophic-lateral-sclerosis/DS00359

Faces and stories of Amyotrophic Lateral Sclerosis:


Caroline: http://www.carolinerober.com/p/meet-caroline.html 
Kathy:     http://www.kathysalsblog.com/  



Andermann syndrome

(ACCPN, agenesis of corpus callosum with neuronopathy, agenesis of corpus callosum with peripheral neuropathy, agenesis of corpus callosum with polyneuropathy, Charlevoix disease, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, HMSN/ACC)


Information about Andermann syndrome:


http://ghr.nlm.nih.gov/condition/andermann-syndrome#definition
http://rarediseases.info.nih.gov/GARD/Condition/1537/Andermann_syndrome.aspx
http://www.healthline.com/galecontent/agenesis-of-the-corpus-callosum
http://rarediseases.info.nih.gov/GARD/Condition/1537/Andermann_syndrome.aspx/Print
http://www.rightdiagnosis.com/medical/andermann_syndrome.htm


Faces and stories of Andermann syndrome:


Tegan & Darian: http://www.the-special-needs-child.com/About-me.html


Androgen Insensitivity Syndrome 
(AIS, Androgen receptor deficiency, Androgen resistance syndrome, AR deficiency, DHTR deficiency, Dihydrotestosterone receptor deficiency, Testicular feminization syndrome, TFM - testicular feminization syndrome)

Information about Androgen Insensitivity Syndrome:

http://www.aissg.org/
http://emedicine.medscape.com/article/924996-overview
http://hormones.gr/preview.php?c_id=227
http://www.medicalnewstoday.com/articles/186480.php



Anencephaly

(anencephalia, Anencephalus, Aprosencephaly, congenital absence of brain)


Information about Anencephaly:


http://ghr.nlm.nih.gov/condition/anencephaly
http://en.wikipedia.org/wiki/Anencephaly
http://rarediseases.info.nih.gov/GARD/Condition/5808/Anencephaly.aspx/Panel1/Print
http://www.anencephalyhope.net/#!


Faces and stories of Anencephaly:

 
Faith:  http://babyfaithhope.blogspot.com/
Levi: http://levihicks.blogspot.com/
Carleigh: http://www.caringforcarleigh.com/
Seth: http://babysethryan.blogspot.com/
Emma: http://prayerforamiracle.blogspot.com/


You tube links:

http://www.youtube.com/watch?v=6hQHLJTGdTU
http://www.youtube.com/watch?v=WMlVNFpzKNI&feature=related
http://www.youtube.com/watch?v=zx1_cy_yWEI



Angelman Syndrome 
(AS)

Information about Angelman Syndrome (AS):

http://en.wikipedia.org/wiki/Angelman_syndrome
http://www.angelman.org/
http://www.angelmanfoundation.com
http://www.cureangelman.org/
http://www.angelmansyndrome.org/home.html

Faces and stories of Angelman Syndrome (AS):


Brady:  http://sweetsweetangels.blogspot.com/
Ashley: http://ourangelashley.blogspot.com/
Maggie: http://sheldonhickey.com/
Chance: http://www.evansepisodes.blogspot.com/
Emma Lynn: http://www.emmalynn.5u.com/

You tube links: 

http://www.youtube.com/watch?v=X07trjYPZks
http://www.youtube.com/watch?v=77JjACB5djQ&feature=related
http://www.youtube.com/watch?v=1Gb5N7J9cxs&feature=related
http://www.youtube.com/watch?v=RHastPSc9XQ&feature=related
(you can turn on english subtitles in this video)
http://www.youtube.com/watch?v=-bCbZvC6LqI&feature=related


Apert Syndrome 
(Acrocephalosyndactyly, Acrocephaly)

Information about Apert Syndrome:

http://en.wikipedia.org/wiki/Apert_syndrome
http://emedicine.medscape.com/article/941723-overview
http://www.apert-international.org/
http://www.ccakids.com/Syndrome/Apert.PDF
http://omim.org/entry/101200

Faces and stories of Apert Syndrome:

Teeter: http://www.apert.org/
Jack:     http://allaccesspasstojack.blogspot.com/p/about-jack-posted-friday-june-4-2010.html
Angel: http://helpbabyangel.blogspot.com/
Aiden: http://www.moreskeesplease.com/p/about-aiden.html
          http://www.aidensjourneythefilm.com/
Cam:     http://www.warriorcameron.blogspot.com/ 

You tube links: 

http://www.youtube.com/watch?v=MPgQIBVGb0E
http://www.youtube.com/watch?v=SBTo0YWpLyE
http://www.youtube.com/watch?v=qBq-DKaQC54
(Apert at 26:00)
http://www.youtube.com/watch?v=BtUi5Nr9MEI
http://www.youtube.com/watch?v=YTGkpSVTQ_o


Arts Syndrome
(ataxia-deafness-optic atrophy, lethal, ataxia, fatal X-linked, with deafness and loss of vision)


Information about Arts Syndrome:

http://ghr.nlm.nih.gov/condition/arts-syndrome#definition
http://www.ncbi.nlm.nih.gov/books/NBK2591/
http://www.rightdiagnosis.com/a/arts_syndrome/intro.htm


Aspartylglucosaminuria

(AGA deficiency,  aspartylglucosamidase deficiency, Aspartylglucosaminidase deficiency, glycosylasparaginase deficiency)
  

Information about Aspartylglucosaminuria:
  

http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria#definition
http://www.rightdiagnosis.com/a/aspartylglucosaminuria/intro.htm
http://www.ismrd.org/the_diseases/aspartylglucosaminuria
http://en.wikipedia.org/wiki/Aspartylglucosaminuria
http://www.socialstyrelsen.se/rarediseases/aspartylglucosaminuria



Ataxia Telangiectasia
(A-T, Louis-Bar Syndrome, Border-Sedgwick syndrome, Telangiectasia, cerebello-oculocutaneous)

Information about Ataxia Telangiectasia:

http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia
http://www.ninds.nih.gov/disorders/a_t/a-t.htm
http://emedicine.medscape.com/article/1113394-overview
http://www.ataxia.org/pdf/Ataxia%20Telangiectasia.pdf

Faces and stories of Ataxia Telangiectasia:

Riley: http://dylanandrileyslack.blogspot.com/p/donations.html 

You tube links:

http://www.youtube.com/watch?v=a_h8aOg0F5E
http://www.youtube.com/watch?v=AJcZFtpN7xI
http://www.youtube.com/watch?v=yYrwde3zgP4&feature=related
http://www.youtube.com/watch?v=gOXiCAij0xo&feature=related
http://www.youtube.com/watch?v=zQLHE94fp3g&feature=related


Autosomal recessive primary microcephaly

(microcephaly primary hereditary, primary autosomal recessive microcephaly, true microcephaly)


Information about MCPH:

http://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly#definition
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199363/
http://www.ojrd.com/content/6/1/39
http://www.rightdiagnosis.com/m/microcephaly_primary_autosomal_recessive/intro.htm
http://www.childrenwithmicro.org/


Faces and stories of MCPH:

Zoe: http://www.zoemeszaros.com/index.html
Kaylee: http://www.kayleespalace.com/gallery.html
Brextin: http://brextinshope.blogspot.com/
Sammy: http://marcusandjenny.blogspot.com/
Monica Claire: http://www.monicaclaireasmus.blogspot.com/


You tube links:

http://www.youtube.com/watch?v=YIlsP-ds5tM
http://www.youtube.com/watch?v=QwuumXai1vM
http://www.youtube.com/watch?v=aYU5KO__x5I
http://www.youtube.com/watch?v=p8rrsYgXGzY



Bardet–Biedl syndrome
(BBS, Laurence-Moon-Bardet-Biedl syndrome, Laurence-Moon-Biedl syndrome, Laurence-Moon syndrome, LMBBS, LMS)

Information about Bardet–Biedl syndrome:

http://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome
http://mlmorris.com/lmbbs/
http://www.lmbbs.org.uk/
http://omim.org/entry/245800

Faces and stories of 1p36 Bardet–Biedl syndrome:

Lucy:  http://ilovelucyproject.blogspot.com/
Carly:  http://mlmorris.com/lmbbs/carly.html
Savannah & Xander:  http://twolittlereasons.blogspot.com/2010/07/bardet-biedl-syndrome.html

You tube links:

http://www.youtube.com/watch?v=9f3_7zN2oVI



Batten disease
(Batten-Mayou disease, Batten-Spielmeyer-Vogt disease, classic juvenile NCL, CLN3-related neuronal ceroid-lipofuscinosis, Juvenile Batten disease, Juvenile cerebroretinal degeneration, Spielmeyer-Vogt disease)

Information about Batten Disease:

http://ghr.nlm.nih.gov/condition/juvenile-batten-disease
http://www.ninds.nih.gov/disorders/batten/detail_batten.htm
http://beyondbatten.org/
http://www.bdsra.org/whatis.html
http://www.battens.org.au/about.html

Faces and stories of Batten Disease:

Celia <3: http://betzfamilycolumbus.blogspot.com/p/celias-story.html
Nick:  http://www.nicksbattle.com/Nick.htm
Hailey & Carter: http://www.haileyandcartersdream.com/
Taylor: http://www.taylorstale.com/our-story/41-taylors-tale.html
Rachel: http://www.teamrachel.com/rachels-medical-information-jncl/

You tube links:

http://www.youtube.com/watch?v=DQChRSCWtYA&feature=player_embedded
http://www.youtube.com/watch?v=DQChRSCWtYA&feature=player_embedded
http://www.youtube.com/watch?v=ELRzPWk2NAs&feature=player_embedded
http://www.youtube.com/watch?v=r3GU2e3ChYU&feature=player_embedded#!
http://www.youtube.com/watch?v=9WNH16UKI80&feature=related


Beare-Stevenson cutis gyrata syndrome
(cutis gyrata syndrome of Beare-Stevenson, Cutis gyrata syndrome of Beare and Stevenson)

Information about Beare-Stevenson cutis gyrata syndrome:

http://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome
http://www.rightdiagnosis.com/medical/beare_stevenson_cutis_gyrata_syndrome.htm
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320440120/abstract
http://www.medic8.com/genetics/cutis-gyrata-syndrome.htm
http://skinsheen.com/skin-beare-stevenson-cutis-gyrata-syndrome-2647.aspx



Beckwith-Wiedemann Syndrome

(BWS, EMG syndrome, Exomphalos-Macroglossia-Gigantism Syndrome, Wiedemann-Beckwith syndrome {WBS} )


Information about Beckwith-Wiedemann Syndrome :

http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome
http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome
http://www.beckwith-wiedemannsyndrome.org/tp40/Default.asp?ID=28722
http://www.bws-support.org.uk/
http://www.orpha.net/data/patho/GB/uk-BWS05.pdf

Faces and stories of Beckwith-Wiedemann Syndrome :

Abbie: http://wvgurl.wordpress.com/category/beckwith-wiedemann-syndrome/
Master S: http://squigglyrainbow.blogspot.com/p/squiggly-rainbow-creations.html

You tube links:

http://www.youtube.com/watch?v=giSTdg9C5yE


Benjamin Syndrome: 

Information about Benjamin Syndrome:

http://en.wikipedia.org/wiki/Benjamin_syndrome
http://www.rightdiagnosis.com/b/benjamin_syndrome/intro.htm


Beta-Thalassemia
(Cooley's Anemia, Erythroblastic anemia, Mediterranean Anemia, Thalassemia intermedia, Microcytemia, beta type , Thalassemia Major, Thalassemia, beta type)

Information about Beta-Thalassemia:

http://en.wikipedia.org/wiki/Beta-thalassemia
http://ghr.nlm.nih.gov/condition/beta-thalassemia
http://www.ncbi.nlm.nih.gov/books/NBK1426/













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