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Results 1 - 10 of 18 for robinson "syndrome," autosomal recessive 2
  1. Heterotaxy syndrome 
    ... located on the X chromosome, one of the two sex chromosomes in each cell.When heterotaxy syndrome occurs as a feature of primary ciliary dyskinesia, it has an autosomal recessive pattern of inheritance. Heterotaxy HTX Ivemark syndrome Left ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  2. ALDH18A1 gene 
    ... as mutations) in the ALDH18A1 gene can cause two different types of cutis laxa: autosomal dominant cutis laxa type 3 (ADCL3) and autosomal recessive cutis laxa type 3A (ARCL3A, which is also known as de Barsy syndrome). In autosomal dominant cutis laxa, one copy of ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  3. Mabry syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... 2 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  4. Multiple mitochondrial dysfunctions syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Registry: Multiple mitochondrial dysfunctions syndrome 3 ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  5. Donnai-Barrow syndrome 
    ... cases, the parents of an individual with an autosomal recessive condition ... UPD occurs when a person receives two copies of a chromosome, or part of a ...
    https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome - Genetics
  6. Multiple pterygium syndrome 
    ... pterygium syndrome Genetic Testing Registry: Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome National ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  7. Jervell and Lange-Nielsen syndrome 
    ... related heart abnormalities, but their hearing is normal. Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of ...
    https://medlineplus.gov/.../jervell-and-lange-nielsen-syndrome - Genetics
  8. Isolated ectopia lentis 
    ... Subluxation of lens Genetic Testing Registry: Ectopia lentis 2, isolated, autosomal recessive Genetic Testing Registry: Ectopia lentis 1, isolated, autosomal ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  9. 6q24-related transient neonatal diabetes mellitus 
    ... Hahnemann JM, Kant SG, Njolstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet. 2006 Sep;120(2):262-9. doi: 10.1007/s00439-006-0205- ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  10. Combined pituitary hormone deficiency 
    ... combined pituitary hormone deficiency are inherited in an autosomal recessive pattern. ... loss-spine abnormalities syndrome Pituitary hormone deficiency, combined 1 Short stature-pituitary ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
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