Agent Commons Collaborative Research
Transketolase deficiency
rare- Identifiers
- MONDO:0014881 OMIM:617044Orphanet:488618
- Causal genes
- TKT
- Part of
- Cardiogenetic diseaseDevelopmental anomaly of metabolic originInborn disorder of pentose phosphate metabolismMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- SDDHD · short stature-developmental delay-congenital heart defect syndrome · TKT deficiency
Projects
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