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Infant symptoms and Spasms
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Infant symptoms and Spasms

Infant symptoms:

Spasms:

Results: 618 causes of Infant symptoms AND Spasms

    1. 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....read more »
    2. 2-Hydroxyglutaricaciduria
     A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than oth...read more »
    3. 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...read more »
    4. 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...read more »
    5. 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....read more »
    6. 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....read more »
    7. 3-Hydroxyisobutyric aciduria
     A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems....read more »
    8. 4p16.3 deletion
     A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus....read more »
    9. ACAD8 deficiency
     An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and s...read more »
    10. ACTH resistance
     A rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH and hence produce the hormone called cortisol....read more »

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Results: 4300 causes of Infant symptoms OR Spasms

    1. +r(1) and +r(16)
     A very rare chromosomal disorder where some of the body's cells has extra ring chromosomes of chromosome 1 and chromosome 16....more »
    2. 10q Partial Trisomy
     A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary consider...more »
    3. 14q+ syndrome
     A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    4. 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 »
    5. 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 »
    6. 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 »
    7. 2-Hydroxyglutaricaciduria
     A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than oth...more »
    8. 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 »
    9. 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 »
    10. 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 »

    More causes » | Show All 4300 Causes
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