| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (Orphanet Rare Disease Ontology, Orphanet_163690) |
| External Link | http://www.omim.org/entry/606407 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the hypotonia-cystinuria syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| DEL2P21 | Hypotonia-cystinuria syndrome |
