Conditions / Syndrome
Kleefstra syndrome 2
info · Syndrome
A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
Signs and symptoms
- Global developmental delay
- Intellectual disability
- Everted lower lip vermilion
- Midface retrusion
- Microcephaly
- Delayed speech and language development
- Thick eyebrow
- Hypotonia
- Autistic behavior
- Abnormal facial shape