Hypotonia-cystinuria type 1 (Q44714): Difference between revisions
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Esta é uma síndrome rara incluindo hipotonia neonatal e infantil e atraso de crescimento, cistinúria tipo 1, nefrolitíase, atraso de crescimento devido à deficiência de hormônio do crescimento e dismorfismo facial menor devido a uma deleção homozigótica de dois genes contíguos no cromossomo 2: SLC3A1 e PREP ( 2p21). | |||
| description / en | description / en | ||
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). | |||
Revision as of 12:19, 13 August 2026
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 |
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| 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). |
