Clinical Characteristics

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