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Results 1 - 6 of 6 for Abnormal brain morphology
  1. BSCL2 gene 
    ... Celia’s encephalopathy). This condition is characterized by abnormal brain function (encephalopathy) and intellectual disabilities that are apparent ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  2. LETM1 gene 
    ... other nearby genes can cause seizures or other abnormal electrical activity in the brain. More About This Health Condition LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 ... L, Scorrano L. LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. Hum Mol Genet. 2008 Jan ...
    https://medlineplus.gov/genetics/gene/letm1 - Genetics
  3. TIMM8A gene 
    ... 126(Pt 8):1814-20. doi: 10.1093/brain/awg174. Epub 2003 Jun 4. Citation on PubMed Engl G, Florian S, Tranebjaerg L, Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan 15;21(2): ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  4. Deafness-dystonia-optic neuronopathy syndrome 
    ... 126(Pt 8):1814-20. doi: 10.1093/brain/awg174. Epub 2003 Jun 4. Citation on PubMed Engl G, Florian S, Tranebjaerg L, Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan 15;21(2): ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  5. PITX1 gene 
    ... producing gland located at the base of the brain, and in an embryonic structure called the ... characterized by abnormal development of the arms, resulting in short fingers ( ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  6. LBR gene 
    ... the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet. 2002 ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics