Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496169 | SCV000586795 | likely pathogenic | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2017-01-06 | criteria provided, single submitter | clinical testing | convulsive encephalopathy; severe hypotonia; distal amyotrophy; stereotypies |