Noonan syndrome 13

A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutati

A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.

Signs and symptoms

• Global developmental delay
• Intellectual disability
• Posteriorly rotated ears
• Delayed speech and language development
• Ptosis
• Hypertelorism
• Generalized hypotonia
• Low posterior hairline
• Short neck
• Webbed neck

Also known as: NS13