Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV001003857 | SCV001162311 | pathogenic | Global developmental delay; Cataract; Ptosis; Cerebellar atrophy; Generalized hypotonia | no assertion criteria provided | research | ||
NIHR Bioresource Rare Diseases, |
RCV001003858 | SCV001162312 | pathogenic | Cataract; Constipation; Urinary incontinence; Apraxia; Strabismus; Generalized hypotonia | no assertion criteria provided | research |