Table 1. Whole exome sequencing for the patient.

Mendelian inheritance in man (MIM), Minor allele frequency (MAF), the Genome Aggregation Database (gnomAD), Autosomal recessive (AR), Homozygous (Hom.), Chromosome 4 (chr4)

GENE (Isoform)	Phenotype MIM	Variant	Zygosity	MAF gnomAD (%)	Classification
ANTXR2 (NM_058172.6)	228600 (AR)	c.134 T>C p.(Leu45Pro) chr4:80993581	Hom.	0	pathogenic