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Results 1 - 10 of 262 for Hypotonia
  1. Cohen syndrome 
    ... small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening ... not show signs and symptoms of the condition. Hypotonia, obesity, and prominent incisors Norio syndrome Obesity-hypotonia ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  2. KCNK9 imprinting syndrome 
    ... a rare condition characterized by weak muscle tone (hypotonia) from birth. As a result, affected infants have ... excitability. Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
  3. UNC80 deficiency 
    ... profound intellectual disability. Muscle tone is generally weak (hypotonia), but affected individuals may have increased muscle tone ( ... walk. Some affected individuals have feeding difficulties because hypotonia leads to problems controlling movements of the mouth. ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  4. PURA syndrome 
    ... infancy, affected infants have very weak muscle tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can ... PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  5. 5q31.3 microdeletion syndrome 
    ... infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and ... expressionless face, are thought to be due to hypotonia.Recurrent seizures (epilepsy) and seizure-like episodes (which ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  6. Allan-Herndon-Dudley syndrome 
    ... Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As ... cell transporter deficiency Mental retardation, X-linked, with hypotonia Monocarboxylate transporter 8 (MCT8) deficiency Genetic Testing Registry: ...
    https://medlineplus.gov/.../condition/allan-herndon-dudley-syndrome - Genetics
  7. Gillespie syndrome 
    ... eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and ... brain that coordinates movement. This abnormality can cause hypotonia and delayed development of motor skills such as ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  8. FG syndrome 
    ... features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities ... syndrome Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum OKS ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  9. Xia-Gibbs syndrome 
    ... a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development. ... AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  10. DLG4-related synaptopathy 
    ... disorder, autosomal dominant 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
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