Homozygous or compound heterozygous variants in ARMC9 gene are associated with the following clinical features:
• Intellectual impairment
• Developmental disability
• Hypotonia
• Abnormal eye movements
• Retinal dystrophy
• Ptosis
• Polydactyly (postaxial polydactyly)
• Seizures
• Micrognathia, high palate, bifid uvula
• Bilateral optic nerve hypoplasia
• Broad nasal bridge
• Thin upper lips
• Y shaped 2/3 toe syndactyly
• MRI imaging of brain shows “Molar Tooth Sign”
• Cerebellar vermis hypoplasia
• Fetuses with ARMC9 pathogenic variants have abnormal profile, cleft palate, encephalocele, holoprosencephaly, polydactyly
ARMC9