Table 1 Demographics, presenting clinical manifestations and pre-UDN ES status of the 231 diagnosed individuals (who had a total of 240 diagnoses).

From: Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Variable

Value (%)

Median age

Pediatric (n = 155)

6 years

 

Adult (n = 76)

34.5 years

Gender

Female

131 (57%)

 

Male

100 (43%)

Race

White

179 (78%)

 

Asian

18 (8%)

 

Black

13 (5%)

 

Other

21 (9%)

Ethnicity

Hispanic

26 (11%)

 

Non-Hispanic

168 (73%)

 

Unknown

37 (16%)

Presenting symptoms categorya

Neurologic

130 (56%)

 

Multiple congenital anomalies

18 (8%)

 

Musculoskeletal

17 (7%)

 

Other (18 systems)

66 (29%)

Pre-UDN ES

Prior ES performed was nondiagnosticb

90 (39%)

 

No prior ES

141 (61%)

  1. ES exome sequencing, UDN Undiagnosed Diseases Network.
  2. aReported by clinical site at application review.
  3. bPrior nondiagnostic ES defined as one with either (1) no variants, (2) heterozygous variants in autosomal recessive disease genes, or (3) variants of uncertain significance in a known disease gene or in a novel candidate gene, which could not be resolved further.
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