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Results 1 - 10 of 11 for Developmental "delay," "hypotonia," impaired language
  1. Alpha-N-acetylgalactosaminidase deficiency 
    ... show a variety of signs and symptoms, including developmental, speech, and ... by impaired communication and socialization skills. People with type III ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  2. Klinefelter syndrome 
    ... with Klinefelter syndrome may have low muscle tone (hypotonia), difficulty ... and language development. People with Klinefelter syndrome tend to have ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  3. Xia-Gibbs syndrome 
    ... mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ... protein 1 are associated with intellectual disability and developmental delay. Cold Spring ... PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  4. 22q13.3 deletion syndrome 
    ... of the syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted region probably ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  5. Incontinentia Pigmenti From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
    https://rarediseases.info.nih.gov/.../6778/incontinentia-pigmenti - External Health Links
  6. Chromosome 14 
    ... with this condition may have weak muscle tone (hypotonia), a small head (microcephaly), frequent respiratory infections, developmental delay, and learning difficulties.Other changes in the number ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  7. 48,XXXY syndrome 
    ... to have anxiety, a short attention span, and impaired social skills.48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, ...
    https://medlineplus.gov/genetics/condition/48xxxy-syndrome - Genetics
  8. 3p deletion syndrome 
    ... This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features.Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. Most have delayed development of language skills as well as motor skills such as ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  9. Snijders Blok-Campeau syndrome 
    ... mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  10. 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 ... Find symptoms and other information about Usher syndrome. ... From the National ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - External Health Links
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