Conditions / Syndrome
Baraitser-Winter syndrome 2
info · Syndrome
A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
Signs and symptoms
- Trigonocephaly
- Intellectual disability
- Highly arched eyebrow
- Ptosis
- Lissencephaly
- Seizure
- Hypertelorism
- Hearing impairment
- Coloboma
- Secondary microcephaly