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Results 11 - 20 of 44 for Abnormality of the face
  1. FLNA gene 
    ... above). Terminal osseous dysplasia is characterized by skeletal abnormalities in the hands and feet, noncancerous (benign) tumors on the fingers and toes (digits), and dark patches of skin on the face. The FLNA gene variant that causes terminal osseous ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  2. GNAQ gene 
    ... port-wine birthmarks without the brain or eye abnormalities that are often associated with Sturge-Weber syndrome (described above). As in Sturge-Weber syndrome, isolated port-wine birthmarks caused by a GNAQ gene mutation are usually on one side of the face but can be on both sides. It is ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  3. HPSE2 gene 
    ... that the genetic changes may lead to an abnormality in this brain region that may account ... heparanase ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  4. WASHC5 gene 
    ... 3C syndrome because it affects craniofacial (head and face), cerebellar (brain), and cardiovascular (heart) development. People with 3C syndrome often have Dandy-Walker malformation, which is a structural abnormality of the part of the brain that coordinates ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  5. ZMPSTE24 gene 
    ... have tight, rigid skin; underdeveloped lungs; and other abnormalities. They do not usually ... protease 1 homolog FACE-1 FACE1 FACE1_HUMAN farnesylated proteins-converting enzyme ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  6. CTNND1 gene 
    ... involved in the development of the head and face (craniofacial development), including the ... at birth and causes abnormalities mainly affecting the eyelids and mouth. These mutations ...
    https://medlineplus.gov/genetics/gene/ctnnd1 - Genetics
  7. OFD1 gene 
    ... many parts of the body, including the brain, face, limbs, and kidneys.The OFD1 protein is located ... syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  8. PAX3 gene 
    ... for the normal development of bones in the face and skull (craniofacial bones) and ... profound hearing loss, and abnormalities of the hand muscles that can restrict movement. ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  9. TUBB3 gene 
    ... prevents neurite growth. Nerves in the head and face (cranial nerves) that ... that underlie intellectual disability and other neurological problems ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  10. LMNA gene 
    ... hips, and excess fat is deposited in the face, neck, and abdomen. The abnormal fat storage is ... Cau P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
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