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Chromosome 19q13.11 deletion syndrome

MedGen UID:
414432
Concept ID:
C2751651
Disease or Syndrome
Synonym: Chromosome 19q13.11 Deletion Syndrome
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0013090
Orphanet: ORPHA217346

Definition

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Chromosome 19q13.11 deletion syndrome in Orphanet.

Recent clinical studies

Diagnosis

Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, Oneda B, Rauch A, Reis A, Krumbiegel M, Hüffmeier U
Eur J Med Genet 2023 Jan;66(1):104669. Epub 2022 Nov 12 doi: 10.1016/j.ejmg.2022.104669. PMID: 36379434

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