Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research Laboratory of Human Genome and Multifactorial Diseases, |
RCV001257915 | SCV001433866 | pathogenic | Fucosidosis | no assertion criteria provided | research | At eight months of age, the girl was referred to the pediatric department of La Rabta Hospital of Tunis (North of Tunisia) with psychomotor retardation, loss of smile response, and sitting station. Ten months later, she was evaluated for facial dysmorphism, convergent strabismus, gingival hypertrophy of angiokeratomas, and angiokeratomas under the nails. She died due to cardiorespiratory complications when she was six years old. |