Hypotonia-cystinuria type 1 (Q44714)
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This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | GB90.40 |
||
| English | Hypotonia-cystinuria type 1 |
This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21). |
Statements
CID11:GB90.40
0 references
dki-india-GB90.40
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