Valence-Farazi cerebellar ataxia syndrome

An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the S

An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21.

Signs and symptoms

• Congenital hip dislocation
• Mild intellectual disability
• Delayed ability to walk
• Cerebellar hypoplasia
• Severe periodontitis
• Hypotonia
• Global developmental delay
• Retrograde ejaculation
• Hypoplasia of the pons
• Thick corpus callosum

Also known as: VAFCAS