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Intermittent ataxia in children and Mouth symptoms
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Intermittent ataxia in children and Mouth symptoms

Intermittent ataxia in children:

Mouth symptoms:

Results: Causes of Intermittent ataxia in children AND Mouth symptoms

    1. Acidemia, methylmalonic
     An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body....read more »
    2. Argininosuccinic aciduria
     A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood....read more »
    3. Citrullinemia
     Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different...read more »
    4. Mitochondrial diseases
     Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles....read more »

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Results: 6656 causes of Intermittent ataxia in children OR Mouth symptoms

    1. 14q+ syndrome
     A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    2. 18p minus syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material t...more »
    3. 1q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    4. 1q terminal deletion
     A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities....more »
    5. 2-Methylbutyric Aciduria
     A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbu...more »
    6. 2-methylbutyryl-coenzyme A dehydrogenase deficiency
     A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbu...more »
    7. 22q11.2 deletion syndrome
     A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans....more »
    8. 2q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    9. 2q22-q24 deletion
     A rare chromosomal disorder where part of the long arm (q22-q24) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    10. 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency
     A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activit...more »

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