Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496204 | SCV000586793 | likely pathogenic | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability, moderate; dysmorphism (large ears; large jaw); severe cerebellar atrophy; pyramidal syndrome |