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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)  
    Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about the signs and symptoms of the retinal condition retinitis pigmentosa, as well as ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  5. Choroideremia (Foundation Fighting Blindness)  
    Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs and symptoms of the retinal condition choroideremia, as well as how to live ...
    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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