Hyperinsulinemic hypoglycemia, familial, 4
- Synonyms
- HADH-Related Hyperinsulinism; Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the endocrine system
- Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
- MedGen UID: 351247
- Concept ID: C1864903
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hyperinsulinemic hypoglycemia
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Hypoglycemic coma
Hypoglycemic coma
- MedGen UID: 5710
- Concept ID: C0020617
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoglycemic seizures
Hypoglycemic seizures
- MedGen UID: 164079
- Concept ID: C0877056
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Hypoglycemic coma
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