| Metadata | |
|---|---|
| ID | DOID:0060858 |
| Name | hypotonia-cystinuria syndrome |
| Definition | A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690, https://www.ncbi.nlm.nih.gov/pubmed/11524703, https://www.ncbi.nlm.nih.gov/pubmed/16385448, https://www.ncbi.nlm.nih.gov/pubmed/18234729 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
cystinuria with mitochondrial disease [EXACT] |
| Parent Relationships |
is_a syndrome |