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Birth defects and Brachydactyly and Brain symptoms and Broad nose
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Birth defects and Brachydactyly and Brain symptoms and Broad nose

  • Birth defects AND Brachydactyly AND Brain symptoms AND Broad nose - Causes of All Symptoms
  • Birth defects OR Brachydactyly OR Brain symptoms OR Broad nose - 3013 causes

Birth defects:

Brachydactyly:

Brain symptoms:

Broad nose:

Results: Causes of Birth defects AND Brachydactyly AND Brain symptoms AND Broad nose

    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. Chromosome 22, trisomy
     A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage....read more »
    3. Chromosome 3, trisomy 3q
     A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair gro...read more »
    4. Chromosome 8p duplication syndrome
     A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated....read more »

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Results: 3013 causes of Birth defects OR Brachydactyly OR Brain symptoms OR Broad nose

    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. 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 »
    3. 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 »
    4. 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 »
    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. 2p21 deletion syndrome
     This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial...more »
    9. 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 »
    10. 3 alpha methylglutaconicaciduria, type 3
     A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the o...more »

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