SLC20A1

Multiple congenital anomalies (tetralogy of Fallot, renal agenesis, polydactyly), first biallelic SLC20A1 case

1 article(s) in the watch · Constitutional genetics

Curated publications

Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Multiple congenital anomalies (tetralogy of Fallot, renal agenesis, polydactyly), first biallelic SLC20A1 case

Gén.10 June 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.