Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Comprehensive Medical Genetic Center, |
RCV001293457 | SCV001431507 | likely pathogenic | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 2020-08-01 | no assertion criteria provided | clinical testing | We want to report an Iranian patient with a mutation in the PTRH2 gene (c.68T>C, p.V23A), which was identified by whole-exome sequencing. The proband has myopia, spastic diplegic cerebral palsy, and urolithiasis. Our case has a history of seizures; however, he does not present any intellectual disability or developmental issues, and his upper limbs and face have no dysmorphic features related to c.68T>C variant. |