Conditions / Syndrome
intellectual developmental disorder with short stature and behavioral abnormalities
info · Syndrome
A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.
Signs and symptoms
- Short stature
- Global developmental delay
- Generalized hypotonia
- Motor delay
- Severe intellectual disability
- Status epilepticus
- Delayed ability to walk
- Seizure
- Aggressive behavior
- Attention deficit hyperactivity disorder
Also known as: IDDSSBA