DISEASES

Disease-gene associations mined from literature

Human genes for hypoparathyroidism-retardation-dysmorphism syndrome

Hypoparathyroidism-retardation-dysmorphism syndrome [DOID:0060348]

An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.

Synonyms:  hypoparathyroidism-retardation-dysmorphism syndrome,  DOID:0060348,  hypoparathyroidismretardationdysmorphism syndrome,  hypoparathyroidism-retardation-dysmorphism disease,  hypoparathyroidism-retardation-dysmorphism disorder ...