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Results 1 - 10 of 12 for "Nystagmus," "congenital," autosomal recessive
  1. Autosomal recessive congenital stationary night blindness 
    ... acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes ... Autosomal recessive congenital stationary night blindness is likely a rare ...
    https://medlineplus.gov/...ive-congenital-stationary-night-blindness - Genetics
  2. Coloboma 
    ... for that condition, which may be autosomal dominant, autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. Leber congenital amaurosis 
    ... NMNAT1 RD3 RDH12 RPGRIP1 SPATA7 TULP1 USP45 Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  4. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show ... dysmorphism-neuropathy syndrome National Organization for ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  5. SRD5A3-congenital disorder of glycosylation 
    ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. CDG Iq CDG-Iq Congenital disorder of glycosylation type 1q SRD5A3-CDG Genetic ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  6. ALG1-congenital disorder of glycosylation 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  7. Abetalipoproteinemia 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... deficiency syndrome Microsomal triglyceride transfer protein deficiency ...
    https://medlineplus.gov/genetics/condition/abetalipoproteinemia - Genetics
  8. Senior-Løken syndrome 
    ... how they lead specifically to nephronophthisis and Leber congenital amaurosis.Some people with Senior-Løken syndrome do not have ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  9. RNAse T2-deficient leukoencephalopathy 
    ... down. RNASET2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  10. Gillespie syndrome 
    ... ITPR1 Gillespie syndrome can be inherited in an autosomal recessive pattern, which means both copies of a gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
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