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Results 1 - 9 of 9 for Intellectual developmental disorder with ocular anomalies distinctive facial features
  1. Joubert syndrome 
    ... apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive facial features can also occur in Joubert syndrome; these include ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. 49,XXXXY syndrome 
    ... unusually large range of joint movement (hyperextensibility), elbow ... spaced eyes (ocular hypertelorism), an upward tilt to the outside corners ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
  3. Cornelia de Lange syndrome 
    ... before and after birth leading to short stature; intellectual disability that is ... facial features, including arched eyebrows that often meet in the ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  4. 48,XXXY syndrome 
    ... unusually large range of joint movement (hyperextensibility), elbow ... spaced eyes (ocular hypertelorism), outside corners of the eyes that point ...
    https://medlineplus.gov/genetics/condition/48xxxy-syndrome - Genetics
  5. Simpson-Golabi-Behmel syndrome 
    ... adulthood.People with Simpson-Golabi-Behmel syndrome have distinctive facial ... tip, and abnormalities affecting the roof of the mouth (the palate). ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  6. Snijders Blok-Campeau syndrome 
    ... is characterized by intellectual disability, speech problems, and distinctive facial features.Intellectual disability in individuals with Snijders Blok-Campeau syndrome ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  7. Chromosome 22 
    ... chromosome 22 can have a variety of effects. Intellectual disability, delayed development, delayed or absent speech, distinctive facial features, and behavioral problems are common features. Frequent changes ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  8. HDAC8 gene 
    ... Signs and symptoms in affected males include severe intellectual disability, short ... facial features. Affected females tend to have less severe signs ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  9. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics