transketolase deficiency

Summary

transketolase deficiency is a developmental defect during embryogenesis^[1]. It is known by 4 alternative names across languages and contexts.^[2]

Key Facts

• transketolase deficiency's instance of is recorded as developmental defect during embryogenesis^[3].
• transketolase deficiency's instance of is recorded as rare disease^[4].
• transketolase deficiency's instance of is recorded as class of disease^[5].
• transketolase deficiency is a type of developmental anomaly of metabolic origin^[6].
• transketolase deficiency is a type of inborn disorder of pentose phosphate metabolism^[7].
• transketolase deficiency is a type of genetic syndromic intellectual disability^[8].
• transketolase deficiency is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[9].
• transketolase deficiency is a type of malformation syndrome with short stature^[10].
• transketolase deficiency is a type of rare syndrome with cardiac malformations^[11].
• transketolase deficiency's genetic association is recorded as TKT^[12].
• transketolase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_488618^[13].

Why It Matters

transketolase deficiency is known by 4 alternative names across languages and contexts.^[2]