Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research Laboratory of Human Genome and Multifactorial Diseases, |
RCV001257917 | SCV001433957 | pathogenic | Fucosidosis | no assertion criteria provided | research | He had an early onset of psychomotor retardation within the first year of life. He had developed severe spastic quadriplegia at 18 months of age. Mild coarse facies were noted at the age of two years, and severe growth retardation and angiokeratoma were noted at the age of three. |