MAD2L1BP

MAD2L1 binding protein
OMIM: 618136, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red MAD2L1BP in Mendeliome


Version 2.50

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Female infertility MONDO:0021124
  • MAD2L1BP-related Mosaic variegated aneuploidy syndrome with microcephaly, epileptic encephalopathy, developmental delay and juvenile granulosa‑cell tumours MONDO:0002254