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Results 1 - 10 of 15 for Facial hypotonia
  1. 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
  2. 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
  3. PIGT gene 
    ... individuals have delayed development; seizures; low muscle tone (hypotonia); distinct facial features; and abnormalities that are present from birth ( ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  4. OFD1 gene 
    ... with features that overlap with those of oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye movements, and breathing problems. ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  5. ATN1 gene 
    ... People with CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  6. HNRNPK gene 
    ... This condition is characterized by weak muscle tone (hypotonia), intellectual disability, delayed development of speech and walking, and distinctive facial features. Other body systems, such as the heart, ...
    https://medlineplus.gov/genetics/gene/hnrnpk - Genetics
  7. PURA gene 
    ... development of speech and walking, weak muscle tone (hypotonia), breathing problems, recurrent seizures (epilepsy) or seizure-like episodes, and distinctive facial features. The deletion that causes this condition occurs ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  8. EXT2 gene 
    ... the PHF21A gene causes intellectual disability and distinctive facial features. ... tone (hypotonia). The EXT2 gene mutations associated with seizures-scoliosis- ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics
  9. SLC3A1 gene 
    ... SLC3A1 gene and the neighboring PREPL gene cause hypotonia-cystinuria syndrome. In addition to cystinuria, people with this condition have low muscle tone (hypotonia) and poor feeding, which usually improves by early ...
    https://medlineplus.gov/genetics/gene/slc3a1 - Genetics
  10. PIGN gene 
    ... also cause a condition called multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Many of the signs ... disorders. These individuals may have weak muscle tone (hypotonia), developmental delays, intellectual disabilities, movement disorders, and seizures. ...
    https://medlineplus.gov/genetics/gene/pign - Genetics
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