The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Hypocalcemia | 90% |
| Hypoparathyroidism | 90% |
| Sensorineural hearing impairment | 90% |
| Behavioral abnormality | 50% |
| Flexion contracture | 50% |
| Renal hypoplasia/aplasia | 50% |
| Seizures | 50% |
| Abnormal localization of kidney | 7.5% |
| Abnormality of retinal pigmentation | 7.5% |
| Hematuria | 7.5% |
| Multicystic kidney dysplasia | 7.5% |
| Nystagmus | 7.5% |
| Proteinuria | 7.5% |
| Psoriasis | 7.5% |
| Ptosis | 7.5% |
| Pyloric stenosis | 7.5% |
| Ventricular septal defect | 7.5% |
| Vesicoureteral reflux | 7.5% |
| Septate vagina | 5% |
| Uterus didelphys | 5% |
| Autosomal dominant inheritance | - |
| Chronic kidney disease | - |
| Nephrotic syndrome | - |
| Renal dysplasia | - |
| Thickening of the glomerular basement membrane | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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How rare is Barakat syndrome? See answer
