Diseases

Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy

microcephaly, postnatal progressive, with seizures and brain atrophy

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Disease Name: Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Standard Disease Name: microcephaly, postnatal progressive, with seizures and brain atrophy
MeSH Tree: No data
ICD-10: C88.2

Description: NCI2016_02D:A group of rare disorders of immunoglobulin synthesis associated with B-cell proliferative disorders.|MSH2017_2016_08_12:A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.|CSP2006:disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine; amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains; the defect arises through faulty coupling of the variable (V) and constant (C) region genes.

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