hypoparathyroidism-retardation-dysmorphism syndrome (DOID:0060348)
Alliance: disease page
Synonyms: HRD syndrome; hypoparathyroidism with short stature, mental retardation and seizures; Sanjad-Sakati syndrome
Alt IDs: OMIM:241410, MESH:C537157, NCI:C133727, ORDO:2323, UMLS_CUI:C1855840
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 TBCE on chromosome 1q42.3.