Conditions / Syndrome
intellectual disability and myopathy syndrome
info · Syndrome
A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the
A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12.
Signs and symptoms
- Hypotonia
- Anxiety
- Thin upper lip vermilion
- Prominent supraorbital ridges
- Postural instability
- Fatigue
- Sleep apnea
- Cutis marmorata
- Flat face
- Achilles tendon contracture
Also known as: ABCC9-related intellectual disability and myopathy; AIMS; IDMYS