Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 11 - 20 of 52 for Abnormality of limbs
  1. GLI3 gene 
    ... role of the GLI3 protein in brain and limb patterning may help explain why mutations lead to brain abnormalities, polydactyly, and the other features of acrocallosal syndrome. ...
    https://medlineplus.gov/genetics/gene/gli3 - Genetics
  2. PNPLA6 gene 
    ... abnormally fast (brisk) reflexes, reduced sensation in the extremities (peripheral neuropathy), intellectual disability or other cognitive problems, eye abnormalities, impaired vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  3. TP63 gene 
    ... acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome; and limb-mammary syndrome (LMS). This group of disorders is characterized by varying combinations of ectodermal abnormalities (which affect the skin, hair, nails, teeth, and ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics
  4. FGFR3 gene 
    ... with Muenke syndrome (such as hand and foot abnormalities). More About This Health ... dwarfism (achondroplasia); profound developmental delay; and thick, dark, ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  5. FKRP gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone ... dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  6. DOK7 gene 
    ... signaling between nerve and muscle cells. These signaling abnormalities lead to ... hips, and limbs, known as limb-girdle muscle weakness. More About ...
    https://medlineplus.gov/genetics/gene/dok7 - Genetics
  7. DHH gene 
    ... XY gonadal dysgenesis with minifascicular neuropathy. The nerve abnormalities affect ... desert hedgehog homolog (Drosophila) DHH_HUMAN ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  8. SLC26A2 gene 
    ... of bone development is characterized by extremely short limbs, short fingers and toes, a narrow chest, and a prominent, rounded abdomen. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  9. DHODH gene 
    ... dihydroorotate dehydrogenase appears to be active in the limb buds during early development, it is not clear exactly how variants in the DHODH gene cause the specific bone abnormalities seen in people with Miller syndrome. More About ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  10. TUBB3 gene 
    ... of neurites within the brain leads to brain abnormalities that underlie ... the limbs (peripheral neuropathy) that begins in childhood or adulthood. ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · next