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Results 1 - 10 of 42 for Hypotonia
  1. 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
  2. PIGT gene 
    ... cause a rare condition called multiple congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have delayed development; seizures; low muscle tone (hypotonia); distinct facial features; and abnormalities that are present ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  3. PURA gene 
    ... development of speech and walking, weak muscle tone (hypotonia), breathing problems, recurrent seizures (epilepsy) or seizure-like ... the function of neurons, leading to developmental delay, hypotonia, and other neurological problems in people with 5q31. ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  4. ATN1 gene 
    ... can cause a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. ... People with CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  5. MAOA gene 
    ... of mental and motor skills, weak muscle tone (hypotonia), and repetitive hand movements. Deletion mutations that remove ... a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  6. KCNK9 gene 
    ... This condition is characterized by weak muscle tone (hypotonia) from birth that can affect the ability to ... excitability. Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 ...
    https://medlineplus.gov/genetics/gene/kcnk9 - Genetics
  7. PPP2R5D gene 
    ... intellectual disability typically also have weak muscle tone (hypotonia) and delayed development of speech and walking. These ... in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1):43- ...
    https://medlineplus.gov/genetics/gene/ppp2r5d - Genetics
  8. UNC80 gene 
    ... Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to ... Yoon G. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  9. TPM2 gene 
    ... to muscle weakness (myopathy) and poor muscle tone (hypotonia). These mutations delete or duplicate genetic material in ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  10. TTN gene 
    ... uterus. Affected babies may have low muscle tone (hypotonia) or joint deformities that limit their ability to ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
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