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Results 1 - 10 of 128 for Facial hypotonia
  1. KCNK9 imprinting syndrome 
    ... syndrome Intellectual disability, Birk-Barel type Intellectual disability-hypotonia-facial dysmorphism syndrome Mental retardation with hypotonia and facial ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
  2. Down syndrome 
    ... that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  3. DYRK1A gene 
    ... in these individuals include recurrent seizures (epilepsy), characteristic facial features, weak muscle tone (hypotonia), foot abnormalities, and walking problems (gait disturbance). This ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  4. Chromosome 12 
    ... These effects include intellectual disability, slow growth, distinctive facial features, weak muscle tone (hypotonia), skeletal abnormalities, and heart defects.Several different changes ...
    https://medlineplus.gov/genetics/chromosome/12 - Genetics
  5. Chromosome 16 
    ... effects. Intellectual disability, delayed growth and development, distinctive facial features, weak muscle tone (hypotonia), heart defects, and other medical problems are common. ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  6. Central core disease 
    ... infants experience weakness in the muscles of the face, profound low muscle tone (hypotonia), and serious or life-threatening breathing problems.Many ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  7. Chromosome 2 
    ... and development, including intellectual disability, slow growth, characteristic facial features, weak muscle tone (hypotonia), and abnormalities of the fingers and toes. Changes ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  8. Chromosome 17 
    ... of effects, including intellectual disability, delayed development, characteristic facial features, weak muscle tone (hypotonia), and short stature. These changes include an extra ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  9. SRD5A3-congenital disorder of glycosylation 
    ... SRD5A3-CDG have intellectual disability, vision problems, unusual facial features, low muscle tone (hypotonia), and problems with coordination and balance (ataxia). Vision ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  10. PIGA gene 
    ... seizures known as infantile spasms, weak muscle tone (hypotonia), distinctive facial features, and abnormalities of the brain and spinal ...
    https://medlineplus.gov/genetics/gene/piga - Genetics
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