Chromosome 19q13.11 Deletion Syndrome

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Disease Ontology 12 DOID:0060408 MeSH 44 C567810

SNOMED-CT via HPO 69 204878001 204888000 236780002 40159009 301348000 271611007 103276001 15188001 343087000 95828007 26098002 128306009 193570009 247053007 162294008 229721007 29164008 62415009 16386004 277797007 53602002 56558005 254237003 35484002 74223008 228156007 247578003 91138005 48334007 52781008 36440009 432788009 199612005 22033007 253549006 30288003 32113001 247546006 50956007 238108007 285384003 249769001 268251006 34048007 707609006 423230008 78164000 more 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, and related phenotypes are cryptorchidism and hypospadias

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.