Conditions / Endocrine
glucocorticoid deficiency 2
info · Endocrine
A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22.
Signs and symptoms
- Microcephaly
- Increased circulating ACTH level
- Profound intellectual disability
- Spastic tetraparesis
- Myoclonic seizure
- Severe global developmental delay
- Brain atrophy
- Thin corpus callosum
- Decreased circulating cortisol level
- Focal motor seizure