Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MOLECULAR BIOLOGY LABORATORY, |
RCV000207376 | SCV000262710 | pathogenic | Mucopolysaccharidosis, MPS-II | 2015-10-18 | criteria provided, single submitter | research | Pathogenic variation identified in a Hunter syndrome male patient with I2S deficiency. He presents mental retardation, but no seizures, nor hydrocephaly. |