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Results 1 - 6 of 6 for Abnormality of the upper limb
  1. PITX1 gene 
    ... toes (polydactyly), specifically a severe form of the abnormality called ... lower limbs. The upper limbs are normal in individuals with these PITX1 ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  2. GJC2 gene 
    ... characterized by muscle stiffness (spasticity), paralysis of the upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual disability. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  3. COL2A1 gene 
    ... formation (ossification) in the spine and hips. These abnormalities cause serious health problems, and infants with achondrogenesis ... II collagen, which results in the severe skeletal abnormalities seen in people with this disorder. More About ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. TUBB3 gene 
    ... of neurites within the brain leads to brain abnormalities that underlie intellectual disability and other neurological problems ... with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition lead to intellectual disability, ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  5. ANO5 gene 
    ... to fragile bones, jaw problems, and other skeletal abnormalities. The ANO5 gene mutations that cause gnathodiaphyseal dysplasia ... atrophy), particularly in the shoulders, hips, thighs, and upper arms.The ... in people with limb-girdle muscular dystrophy type 2L change single amino ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  6. TP63 gene 
    ... disorders is characterized by varying combinations of ectodermal abnormalities (which affect the skin, hair, nails, teeth, and ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics