Acetyl-CoA: carboxylase deficiency
- Synonyms
- ACACA DEFICIENCY; ACC1 DEFICIENCY; Acetyl-CoA carboxylase deficiency
Available tests
20 tests are in the database for this condition.
Clinical tests (20 available)
Clinical features
Help- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.