Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004937.3:c.18_21del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219800.1.1 | Arab | Renal tubular acidosis; Growth delay; Glycosuria; Polyuria; Polydipsia; Hypophosphatemic rickets; Proteinuria ; Corneal crystals | Unknown | Yes | Patient 'P4' in the publication |