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Results 101 - 110 of 2,061 for Lead
  1. OFD1 gene 
    ... the OFD1 gene. Most of these genetic changes lead to the production of an abnormally short, nonfunctional ... unclear how a shortage of functional OFD1 protein leads to the specific features of oral-facial-digital ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  2. Arginine vasopressin resistance 
    ... water in the body. This water loss also leads to excessive thirst (polydipsia). Affected individuals can quickly ... can cause dizziness and fatigue. Prolonged dehydration can lead to confusion, low blood pressure, seizures, and coma. ...
    https://medlineplus.gov/.../arginine-vasopressin-resistance - Genetics
  3. Transcobalamin deficiency 
    ... proliferation) and DNA production. The absence of cobalamin leads to impaired growth, a shortage of blood cells, ... shortage of white blood cells (neutropenia), which can lead to reduced immune system function. Decreased cellular cobalamin ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  4. McLeod neuroacanthocytosis syndrome 
    ... and clicking noises). Dystonia of the tongue can lead to swallowing difficulties. Seizures occur in approximately half ... group complex is unknown.XK gene mutations typically lead to the production of an abnormally short, nonfunctional ...
    https://medlineplus.gov/.../mcleod-neuroacanthocytosis-syndrome - Genetics
  5. Niemann-Pick disease 
    ... that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an ... type of lipid called ceramide. Mutations in SMPD1 lead to a shortage of acid sphingomyelinase, which results ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  6. C19orf12 gene 
    ... blocks (amino acids) in the C19orf12 protein or lead to an abnormally short protein. These changes likely ... descent who have the condition. This genetic change leads to production of an abnormally short protein, which ...
    https://medlineplus.gov/genetics/gene/c19orf12 - Genetics
  7. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... and disrupt sexual development and maturation.Hormone imbalances lead to the characteristic signs and symptoms of 17α- ... and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
  8. Glycogen storage disease type IV 
    ... causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with ... body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  9. GRIN2B-related neurodevelopmental disorder 
    ... contribute to the problems developing motor skills and lead to difficulty eating. Some affected individuals have abnormal ... plasticity), learning, and memory.Some GRIN2B gene mutations lead to production of a nonfunctional GluN2B protein or ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  10. AVPR2 gene 
    ... water in the body. This water loss also leads to excessive thirst (polydipsia). Most of the variants ... production of any vasopressin V2 receptor protein or lead to a version of the protein that can ...
    https://medlineplus.gov/genetics/gene/avpr2 - Genetics
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