Human genes for hypoparathyroidism-retardation-dysmorphism syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome [DOID:0060348]
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.
Synonyms: hypoparathyroidism-retardation-dysmorphism syndrome, DOID:0060348, hypoparathyroidismretardationdysmorphism syndrome, hypoparathyroidism-retardation-dysmorphism disease, hypoparathyroidism-retardation-dysmorphism disorder ...