TABLE 1.

The genotypes and phenotypes associated with this patient's deletion gene region are documented in the OMIM database.

Gene	OMIM	Cytogenetic location	Genomic coordinates (GRCh38)	Inheritance	Phenotype	Dysfunction of gene product	pLI score
RAB28	612,994	4p15.33	4:13,367,724‐13,484,340	AR	Cone‐rod dystrophy 18	Retina	0.02
NKX3‐2	602,183	4p15.33	4:13,540,830‐13,547,744	AR	Spondylo‐megaepiphyseal‐metaphyseal dysplasia	Chromosome rearrangement	0.64
CC2D2A	612,013	4p15.32	4:15,469,865‐15,601,557	AR	COACH syndrome 2, Joubert syndrome‐ 9, Meckel syndrome‐ 6	Meckel diverticulum	0.00
PROM1	604,365	4p15.32	4:15,968,228‐16,084,023	AD, AR, AD, AR, AD	Cone‐rod dystrophy 12, Macular dystrophy, Retinal, Retinitis pigmentosa 41, Stargardt disease 4	Retina; leukaemia	0.00
TAPT1	612,758	4p15.32	4:16,160,505‐16,227,390	AR	Osteochondrodysplasia, complex lethal, Symoens‐Barnes‐Gistelinck type	Ciliopathy	0.03
QDPR	612,676	4p15.32	4:17,486,395‐17,512,090	AR	BH4‐deficient, C	Hyperphenylalaninemia	0.00
CLRN2	618,988	4p15.32	4:17,515,165‐17,527,104	AR	Deafness, autosomal recessive 117	Ciliopathy	0.00
SEPSECS	613,009	4p15.2	4:25,120,014‐25,160,582	AR	Pontocerebellar hypoplasia type 2D	Late‐onset cerebellar atrophy	0.00
SLC34A2	604,217	4p15.2	4:25,655,851‐25,678,748	AR	Pulmonary alveolar microlithiasis	pH‐sensitive sodium‐dependent phosphate transporter.	0.00
RBPJ	147,183	4p15.2	4:26,105,449‐26,435,131	AD	Adams‐Oliver syndrome 3	Tumor of the kidney	1.00
DTHD1	616,979	4p14	4:36,281,616‐36,347,511	NA	Variant of unknown signifcance	Glaucoma	0.00

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; NA, not applicable; pLI, probability of loss‐of‐function intolerance.