Total 18 clinical symptoms reported for Hypoparathyroidism, deafness, renal disease syndrome
Hypoparathyroidism |
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Synonyms:Decreased parathyroid hormone secretion; Low parathyroid hormone |
Uncommon |
Progressive sensorineural hearing impairment |
A progressive form of sensorineural hearing impairment.
Synonyms:Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive |
Uncommon |
Renal dysplasia |
The presence of developmental dysplasia of the kidney.
Synonyms:Dysplastic kidneys; Renal adysplasia |
Uncommon |
Abnormal heart morphology |
Any structural anomaly of the heart.
Synonyms:Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect |
Uncommon |
Aplasia of the uterus |
Aplasia of the uterus.
Synonyms:Absent uterus; uterus absent |
Uncommon |
Cleft palate |
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Synonyms:Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis |
Uncommon |
Psoriasiform dermatitis |
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Synonyms:Psoriasis |
Uncommon |
Rod-cone dystrophy |
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Synonyms:Retinitis pigmentosa; Rod cone dystrophy |
Uncommon |
Severe postnatal growth retardation |
Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.
Synonyms:Marked growth retardation; Severe growth delay in children; Severe postnatal growth deficiency; Severe postnatal growth failure |
Uncommon |
Vaginal atresia |
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
Synonyms:Abnormally closed or absent vagina |
Uncommon |