Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000416978 | SCV000494491 | pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2017-02-07 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003596 | SCV001161990 | pathogenic | Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality | no assertion criteria provided | research |