Table 2.

Genomic findings and variant interpretation

Genomic location	HGVS cDNA	HGVS protein	Zygosity	Origin	Interpretation
9: 95481289 ATT/−	NM_001003800: c.1636_1638delAAT	BICD2: p.Asn546Del	Het	De novo	Likely pathogenic

Both Patient 1 and Patient 2 were found to have the same de novo mutation in BICD2. Genomic coordinates reflect build GRCh37.