| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Urofacial syndrome (HPSE2) | urological problems,inverted facial expression | Autosomal Recessive | 10q | Missense | HPSE2 | 631T>C | Lys211His | Amino Acid Substitution | Mahmood et al., 2012/2012 |
| Urofacial syndrome (HPSE2) | urological problems,inverted facial expression | Autosomal Recessive | 10q | Missense | HPSE2 | 1628A>T | Asn543Ile | Amino Acid Substitution | Mahmood et al., 2012/2012 |
