Autosomal recessive cutis laxa type 2A

Any congenital disorder of glycosylation caused by a variantion in the ATP6V0A2 gene. This condition is characterized by cutis laxa, dysmorphic facial features (prominent nasal root, down slanted palpebral fissures, enlarged fontanelles with delayed closure), developmental delay/intellectual disability, seizure disorder, and abnormal brain MRI. Additional features may include congenital hip dislocation, inguinal hernia, and eye findings such as high myopia.