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Results 1 - 10 of 20 for Impaired intellectual development distinctive facial features with cardiac defects
  1. MED13L syndrome 
    ... MED13L deficiency National Organization for Rare Disorders (NORD) IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD PubMed Asadollahi R, Oneda B, Sheth F, ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  2. Chromosome 16 
    ... chromosome 16 can have a variety of effects. Intellectual disability, delayed growth and development, distinctive facial features, weak muscle tone (hypotonia), heart defects, and other medical problems are common. Frequent changes ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  3. Chromosome 2 
    ... is a condition that affects neurological and physical development from ... and foot abnormalities. Most people with MAND also have features similar ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  4. ADNP syndrome 
    ... and autism spectrum disorder, which is characterized by impaired communication and ... and delayed development of speech and motor skills such as sitting ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  5. Cerebro-facio-thoracic dysplasia 
    ... face (facio) and torso (thoracic). The problems with development lead to the key features of cerebro-facio-thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (vertebrae).In ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  6. Mowat-Wilson syndrome 
    ... body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Children with Mowat-Wilson syndrome have a square- ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  7. Galactosialidosis 
    ... Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as "coarse." Some infants have an enlarged heart (cardiomegaly), an eye abnormality called a cherry-red spot, and kidney disease ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
  8. Bardet-Biedl syndrome 
    ... Additional features of Bardet-Biedl syndrome can include impaired speech, delayed ... dental abnormalities, unusually short or fused fingers or toes, and ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  9. MN1 C-terminal truncation syndrome 
    ... a condition characterized by intellectual disability, developmental delay, ... have delayed development of motor skills, such as crawling or walking, ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  10. Chromosome 1 
    ... a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other health problems. Changes to chromosome 1 ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
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