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Results 31 - 40 of 272 for Abnormality of the head
  1. Alpha-mannosidosis 
    ... have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, ...
    https://medlineplus.gov/genetics/condition/alpha-mannosidosis - Genetics
  2. Chromosome 18 
    ... to form a ring. Individuals with this chromosome abnormality often have intellectual disability, an unusually small head (microcephaly), widely spaced eyes (hypertelorism), low-set ears, ...
    https://medlineplus.gov/genetics/chromosome/18 - Genetics
  3. Combined pituitary hormone deficiency 
    ... and symptoms may include abnormal development of the head and face (craniofacial abnormalities), brain abnormalities, recurrent seizures (epilepsy), and developmental delays. ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  4. FGFR2 gene 
    ... of the skull (craniosynostosis), leading to a misshapen head, distinctive facial features, and brain abnormalities. Affected individuals often have abnormalities of the fingers ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. SLC35A2-congenital disorder of glycosylation 
    ... abnormal brain function (encephalopathy), unusual facial features, skeletal abnormalities, and weak muscle tone (hypotonia) with poor head control. They also have severe intellectual disability and ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  6. KCNJ2 gene 
    ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
  7. Sepiapterin reductase deficiency 
    ... muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as ... (microcephaly), intellectual disability, seizures, excessive sleeping, and ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  8. Craniofacial microsomia 
    ... TJ, Healy GB. Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg. 2001 Mar;127(3):265-71. ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  9. Genitopatellar syndrome 
    ... severe. Affected individuals may have an usually small head (microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  10. Sturge-Weber syndrome 
    ... can cause vision loss. When present, the eye abnormalities typically occur on the same side of the head as the port-wine birthmark. Sturge-Weber syndrome ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
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