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Results 1 - 9 of 9 for Heart brain malformation syndrome
  1. WASHC5 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  2. SIX5 gene 
    ... also found the SIX5 protein in the adult brain, heart, eyes, and muscles used for movement ... of tissues in the neck and causes malformations of the ears and kidneys. BOR syndrome is ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics
  3. DOCK6 gene 
    ... specifically during development of the limbs, skull, and heart. DOCK6 also plays a role ... abnormalities, such as brain or eye malformations and intellectual disability, are more ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  4. FOXC1 gene 
    ... of other parts of the body, including the heart, kidneys, and brain. More than 50 mutations in the FOXC1 gene have been found to cause Axenfeld-Rieger syndrome type 3, a condition that primarily affects the ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  5. PTPN11 gene 
    ... become cancerous. More than 90 mutations causing Noonan syndrome have been identified in the PTPN11 gene. This condition is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. Most of ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. GJA1 gene 
    ... Connexin43 gap-junction gene in patients with heart malformations and defects ... heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  7. NSDHL gene 
    ... NBK51754/ Citation on PubMed Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid ... Free article on PubMed Central Porter FD. Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  8. FLNA gene 
    ... found to play roles in regulating skeletal and brain development, the formation of heart tissue and blood vessels, blood clotting, skin elasticity, ... other proteins that play a significant role in heart development. More About This Health Condition ... This Health Condition ABP-280 ABPX ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  9. FOXL2 gene 
    ... in the ovaries. These changes result in eyelid malformations and abnormally accelerated maturation of granulosa cells in ... include an unusually small head (microcephaly), intellectual disability, heart defects, and growth delay. More About This Health ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics