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Results 1 - 5 of 5 for Segawa "syndrome," autosomal recessive
Did you mean seaward "syndrome," autosomal recessive?
  1. Tyrosine hydroxylase deficiency 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SEGAWA SYNDROME, AUTOSOMAL RECESSIVE PubMed Furukawa Y, Kish S. Tyrosine Hydroxylase Deficiency. ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  2. Dopa-responsive dystonia 
    ... Disorders (NORD) ClinicalTrials.gov DYSTONIA, DOPA-RESPONSIVE; DRD SEGAWA SYNDROME, AUTOSOMAL RECESSIVE DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  3. POLR3A gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive ... as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. Pol III-related leukodystrophy 
    ... 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 signs and symptoms of the condition. 4H syndrome ADDH Ataxia, delayed dentition, and hypomyelination Dentoleukoencephalopathy HCAHC ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  5. SLC34A1 gene 
    ... Hernando N, Jones G, Wagner CA, Konrad M. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A ...
    https://medlineplus.gov/genetics/gene/slc34a1 - Genetics