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Results 1 - 10 of 14 for Abnormal brain morphology
  1. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic Disorders/Specifics ... Genetic Disorders ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - National Institutes of Health
  2. Incontinentia Pigmenti From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
    https://rarediseases.info.nih.gov/.../6778/incontinentia-pigmenti - National Institutes of Health
  3. Alagille Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Genetic and Rare Diseases Information Center ... From ...
    https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome - National Institutes of Health
  4. Achondroplasia: About the Disease From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Dwarfism/Start Here ... Dwarfism ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about ...
    https://rarediseases.info.nih.gov/diseases/8173/achondroplasia - National Institutes of Health
  5. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - National Institutes of Health
  6. Huntington Disease From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Huntington's Disease/Learn More ... Huntington's Disease ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and ...
    https://rarediseases.info.nih.gov/diseases/6677/huntington-disease - National Institutes of Health
  7. 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
  8. 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
  9. 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
  10. 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
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