Conditions / Genetic
chromosome 6pter-p24 deletion syndrome
info · Genetic · ICD-10: Q93.5
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.
Signs and symptoms
- Hypertelorism
- Global developmental delay
- Delayed speech and language development
- Motor delay
- Opacification of the corneal stroma
- Tented upper lip vermilion
- Strabismus
- Axenfeld anomaly
- Hypotonia
- Generalized hypotonia
Also known as: 6p subtelomeric deletion syndrome; 6p25 microdeletion syndrome; distal monosomy 6p