Conditions / Syndrome
chromosome 1q41-q42 deletion syndrome
info · Syndrome · ICD-10: Q93.5
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
Signs and symptoms
- Frontal bossing
- Seizure
- Depressed nasal bridge
- Coarse facial features
- Anteverted nares
- Broad nasal tip
- Hypertelorism
- Narrow forehead
- Cleft palate
- Sparse eyebrow
Also known as: 1q41-q42 microdeletion syndrome; 1q41q42 microdeletion syndrome