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Results 1 - 7 of 7 for Intellectual developmental disorder with short stature variable skeletal anomalies
  1. Mucopolysaccharidosis type VII 
    ... Affected individuals may have developmental delay and progressive intellectual ... and joint deformities (contractures) that affect mobility. Individuals ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  2. 22q11.2 deletion syndrome 
    ... significant feeding difficulties, gastrointestinal problems, and hearing loss. ... disability or learning disabilities. Older affected individuals have ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  3. Mucopolysaccharidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Carbohydrate Metabolism Disorders/Specifics ... Carbohydrate Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../disorders/mucopolysaccharidoses - External Health Links
  4. 2q37 deletion syndrome 
    ... of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. 2015 Jan;167A( ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  5. Mucopolysaccharidosis type I 
    ... ear infections.Some individuals with MPS I have short stature and joint deformities (contractures) that affect mobility. Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  6. 3MC syndrome 
    ... common features of 3MC syndrome include developmental delay, intellectual ... and abnormalities of the kidneys, bladder, or genitals.3MC syndrome ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  7. Wolf-Hirschhorn syndrome 
    ... syndrome. Compared to people with other forms of intellectual disability, ... skeletal abnormalities, such as abnormal curvature of the spine (scoliosis ...
    https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome - Genetics