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| Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3): Fundet i omimdefinitions
| Dopamine receptor D2, reduced brain density of (3): Fundet i omimdefinitions
| * 602005 SORTILIN-RELATED RECEPTOR| SORL1: Fundet i omimdefinitions
| * 604763 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12| ARHGEF12: Fundet i omimdefinitions
| Retinal degeneration, late-onset, autosomal dominant, 605670 (3): Fundet i omimdefinitions
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3): Fundet i omimdefinitions
| Nephronophthisis 15, 614845 (3): Fundet i omimdefinitions
| Congenital disorder of glycosylation, type Ij, 608093 (3): Fundet i omimdefinitions
| Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 (3): Fundet i omimdefinitions
| High density lipoprotein cholesterol level QTL14 (2): Fundet i omimdefinitions

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