Disorders

Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Synonym(s): Sanjad-Sakati Syndrome

Gene	Locus	Protein
TBCE	1q42.3	Tubulin-specific chaperone E

Laboratory	Test Method	Prenatal	Carrier *
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.