Case#: 2-month-old boy

DiseaseAssertion:

FamilyInfo: One healhy brother, noncontributory

CasePresentingHPOs: HP:0025104(Capillary malformation) HP:0004691(2-3 toe syndactyly) HP:0001520(Large for gestational age) HP:0001548(Overgrowth) HP:0033725(Thin corpus callosum) HP:0004315(Decreased circulating IgG level) HP:0002720(Decreased circulating IgA level)

CaseHPOFreeText: At 12 months of age two ear infections occuring four weeks apart and a bilateral eye infection.

CaseNotHPOs: HP:0012759(Neurodevelopmental abnormality) HP:0002850(Decreased circulating total IgM)

CaseNotHPOFreeText: Segmental overgrowth was not observed. Normal newborn bloodspot and hearing screen. Ophthalmology examination is normal. No no evidence for a capillary pial vascular malformation

CasePreviousTesting: Whole-exome sequencing and mtDNA testing

GenotypingMethod: Exome sequencing and mtDNA testing was performed on the patient’s blood sample and cultured fibroblast from a 3 mm punch biopsy from right lower paraspinal region.

PreviouslyPublished: No

Variant: NM_181523.2:c.1746-2A>G p.? 9% of the proband's blood cells (74 sequencing reads) and in 25% of the cultured fibroblasts (84 sequencing reads).

ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/variation/1298995/ germline

CAID: CA359883172

gnomAD: Not present in gnomAD