Table 4. Clinical features of the patients with positive whole exome sequencing results.
Case#: 15-year-old boy
DiseaseAssertion: SHORT syndrome and Immunodeficiency 36
FamilyInfo: Table2 Father is wild type, mother was unavailable for testing. Consanguinity was reported at Table 4. No affected family members Table4.
CasePresentingHPOs: HP:0001511(Intrauterine growth retardation) HP:0004322(Short stature) HP:0000325(Triangular face) HP:0010751(Dimple chin) HP:0000684(Delayed eruption of teeth) HP:0000347(micrognathia) HP:0100750(Atelectasis) HP:0004469(chronic bronchitis) HP:0002110(bronchiectasis) HP:0002720(Decreased circulating IgA level) HP:0011342(Mild global developmental delay) HP:0004279(short hands) HP:0000954(Single transverse palmar crease) HP:0002205(Recurrent respiratory infections)
CaseHPOFreeText:
CaseNotHPOs: Height -5.5 to -6.1 SDS
CaseNotHPOFreeText: N/A
CasePreviousTesting: CMA and MS-MLPA for chromosomes 6,14,20 was performed.
GenotypingMethod: Whole-exome sequencing was performed on the patient’s whole blood sample.
PreviouslyPublished: No
Variant: NM_001242466.2:c.68G > A p.Arg23Gln
ClinVar: 1361868
CAID: CA3290343
gnomAD: 0.00005439 https://gnomad.broadinstitute.org/variant/5-67589169-G-A