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Results 1 - 10 of 24 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. 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
  4. 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
  5. 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
  6. 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
  7. Nearsightedness 
    ... conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  8. Aarskog-Scott syndrome 
    ... When caused by FGD1 gene variants, Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The FGD1 gene is located on ... X-linked inheritance is that fathers cannot pass X-linked traits to their ... Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
  9. Farsightedness 
    ... feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin-Chaudhry-Moss syndrome, Down syndrome, and fragile ...
    https://medlineplus.gov/genetics/condition/farsightedness - Genetics
  10. Mucopolysaccharidosis type II 
    ... X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Hunter syndrome I2S deficiency Iduronate 2-sulfatase deficiency MPS II ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
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