Chromosome 5 deletion - speaking
Published in Journal of Clinical Immunology in X-linked agammaglobulinemia XLA is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childhood with neurological impairment, progressive sensorineural deafness, and dystonia in six boys of four unrelated families. Deafness dystonia peptide DDP1 participates in neurological development and is a part of the mitochondrial protein import pathway. The most prominent clinical findings of this contiguous deletion syndrome are the combination of immunodeficiency and sensorineural deafness, which were present in all affected boys. The severity of symptoms, however, did not correlate with the extent of the deletion. Sediva, Anna; Smith, C. chromosome 5 deletion
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Associated Targets 1 Tclin 1. Monarch: OMIM Disease Hierarchy. Parents chromosomal deletion syndrome Tbio Tchem Tdark Tclin Target Novelty Tin-x. Reset Zoom.
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Submit Feedback. Download Data for chromosome 5q12 deletion syndrome. Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated.
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Opens the Target List with this set of targets. Disease categories representing more general classifications of the current disease. Total count of associated targets, and a breakdown of targets by Target Development Level is shown. Disease categories representing more specific classifications of the current disease.]
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