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Results 61 - 70 of 92 for "Heart," malformation of
  1. FOXC1 gene 
    ... Condition MedlinePlus Genetics provides information about Dandy-Walker malformation More About This Health Condition Mutations in the ... abnormality of the cerebellum known as Dandy-Walker malformation. FKHL7 forkhead box protein C1 forkhead, drosophila, homolog- ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  2. MN1 C-terminal truncation syndrome 
    ... the brain that coordinates movement (the cerebellum ). This ... The prevalence of MCTT syndrome is unknown, ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  3. FLNA gene 
    ... It is characterized by hearing loss caused by malformations in tiny bones in the ears (ossicles), an ... and is characterized by hearing loss caused by malformations in the ossicles, a cleft palate, and skeletal ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  4. ALX4 gene 
    ... frontonasal dysplasia type 2. In addition to facial malformations, this type can include features such as genital ... This abnormal cell growth and movement leads to malformations in the middle of the face, particularly affecting ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics
  5. NOTCH1 gene 
    ... aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations are ... of Notch1 signaling may underlie blood vessel and heart abnormalities in people with Adams-Oliver syndrome. However, ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  6. Loeys-Dietz syndrome 
    ... dural ectasia typically does not cause health problems. Malformation or instability of the spinal bones (vertebrae) in ... of the European Society of Cardiology (ESC). Eur Heart J. 2014 Nov 1;35(41):2873-926. ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  7. Melnick-Needles syndrome 
    ... general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), ... encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4): ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  8. Abdominal wall defect 
    ... twisting of the intestine. After birth, these intestinal malformations can lead to problems with digestive function, further ... by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are ...
    https://medlineplus.gov/genetics/condition/abdominal-wall-defect - Genetics
  9. Axenfeld-Rieger syndrome 
    ... copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52( ... Walter MA. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  10. PITX2 gene 
    ... copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52( ... Walter MA. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. ...
    https://medlineplus.gov/genetics/gene/pitx2 - Genetics
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