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Results 1 - 10 of 1,314 for MedlinePlus
  1. CUL3-related neurodevelopmental disorder 
    CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  2. Multiple familial trichoepithelioma 
    Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such ...
    https://medlineplus.gov/.../multiple-familial-trichoepithelioma - Genetics
  3. Jansen-de Vries syndrome 
    Jansen-de Vries syndrome is a developmental disorder that affects many parts of the body. Features of this condition include unique facial features, intellectual ...
    https://medlineplus.gov/genetics/condition/jansen-de-vries-syndrome - Genetics
  4. DLG4-related synaptopathy 
    DLG4-related synaptopathy is a condition that affects neurological development. This condition is characterized by delayed development and mild to moderate ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  5. KCNB1 encephalopathy 
    KCNB1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy), recurrent seizures (epilepsy), and developmental delay.Most people ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  6. SUCLG1-related mitochondrial DNA depletion syndrome 
    SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  7. CYLD cutaneous syndrome 
    CYLD cutaneous syndrome is a genetic condition characterized by the growth of multiple noncancerous (benign) skin tumors. These tumors develop from structures ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
  8. SRD5A3-congenital disorder of glycosylation 
    SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  9. Neuropathy, ataxia, and retinitis pigmentosa 
    Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  10. Glutathione synthetase deficiency 
    Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells ...
    https://medlineplus.gov/.../glutathione-synthetase-deficiency - Genetics
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