Chromosome 19q13.11 Deletion Syndrome

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Disease Ontology 12 DOID:0060408 MeSH 44 C567810

UMLS 73 C2751651

NIH Rare Diseases : ⁵³ Chromosome 19q13.11 deletionsyndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities. To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 19q13.11 Deletion Syndrome, also known as 19q13.11 microdeletion syndrome, is related to chromosome 19q13.11 deletion syndrome, distal and chromosome 19q13.11 deletion syndrome, proximal. An important gene associated with Chromosome 19q13.11 Deletion Syndrome is UBA2 (Ubiquitin Like Modifier Activating Enzyme 2). Affiliated tissues include skin.

Search Clinical Trials , NIH Clinical Center for Chromosome 19q13.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 19q13.11 Deletion Syndrome.