There are multiple definitions:
hypoparathyroidism-retardation-dysmorphism(English)
- syndrome caused by a defect in the tubulin folding and assembly . Many patients succumb in infancy due to overwhelming infections. Also known as Sanjad–Sakati syndrome (OMIM # 241,410), which is autosomal recessive
- PMN, TBCE, SSS
- Thyroid and parathyroid, Congenital disorders, Pediatrics, Infection
- https://doi.org…b013e31813cbf2d
- https://doi.org…875-022-01380-9
heart rhythm disturbance(English)
homologous recombination deficiency(English)