Term Name:	hypoparathyroidism-retardation-dysmorphism syndrome
Synonyms:	HRD syndrome, hypoparathyroidism with short stature, mental retardation and seizures, Sanjad-Sakati syndrome
Definition:	A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
Ontology:	Human Disease [DOID:0060348]   ( DOID:0060348 )