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Results 1 - 10 of 15 for "Hypotonia," "ataxia," delayed development syndrome
  1. MED13L syndrome 
    ... usually moderate to severe in people with MED13L syndrome. Weak muscle tone ... and balance (ataxia). Speech is also delayed, and most people with ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  2. Joubert syndrome 
    ... infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, ... Joubert syndrome; these include a broad forehead, arched eyebrows, droopy ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. 19p13.13 deletion syndrome 
    ... moderate in severity. Many affected individuals have significantly delayed ... syndrome include seizures, abnormalities of brain structure, and mild ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  4. Xia-Gibbs syndrome 
    Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development. Expressive language skills (vocabulary and the production of speech) are particularly affected; children with this condition usually do ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  5. Lissencephaly with cerebellar hypoplasia 
    ... LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  6. Gillespie syndrome 
    ... syndrome.The balance and movement problems in Gillespie syndrome result from hypoplasia of the cerebellum, which is the part of the brain that coordinates movement. This abnormality can cause hypotonia and delayed development of motor skills such as walking. In addition, ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  7. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - External Health Links
  8. MT-ATP6 gene 
    ... bilateral striatal necrosis, which is similar to Leigh syndrome (described ... (hypotonia), and an unusually small head size (microcephaly). Researchers ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  9. ALG1-congenital disorder of glycosylation 
    ... Individuals with ALG1-CDG often have intellectual disability, delayed development, ... and balance (ataxia).People with ALG1-CDG often have problems with ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  10. Kearns-Sayre Syndrome From the National Institutes of Health (National Center for Advancing Translational Sciences)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases ... National Center for Advancing Translational Sciences ... From the ...
    https://rarediseases.info.nih.gov/.../6817/kearns-sayre-syndrome - External Health Links
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