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Results 1 - 10 of 32 for "X-linked" light syndrome
  1. Alport syndrome 
    ... Registry: Autosomal recessive Alport syndrome Genetic Testing Registry: X-linked Alport syndrome Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  2. COL4A5 gene 
    ... M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant. 2002 ... Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls ...
    https://medlineplus.gov/genetics/gene/col4a5 - Genetics
  3. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  5. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... Arena F, Barker D, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. Hypohidrotic ectodermal dysplasia 
    ... ectodermal dysplasia Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome X-linked hypohidrotic ectodermal dysplasia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../hypohidrotic-ectodermal-dysplasia - Genetics
  8. Directory of Transplant Centers (Blood & Marrow Transplant Information Network)  
    ... Diseases: Scleroderma Autoimmune Diseases: Systemic Sclerosis Autoimmune Diseases: X linked autoimmunity allergic dysregulation syndrome XLAAD Immune System Disorders: Acquired immune deficiency syndrome ...
    https://bmtinfonet.org/transplantcenters - Other Resources
  9. Dyskeratosis congenita 
    ... DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 DYSKERATOSIS CONGENITA, X-LINKED; DKCX REVESZ SYNDROME DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2 DYSKERATOSIS CONGENITA, ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  10. RPGR gene 
    ... Jablonski MM. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
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