Pitt-Hopkins-like syndrome 2

A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRX

A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.

Signs and symptoms

• Epileptic encephalopathy
• Wide mouth
• Hyperventilation
• Strabismus
• Scoliosis
• Developmental regression
• Feeding difficulties
• Protruding tongue
• Hypotonia
• Gastroesophageal reflux

Also known as: PTHSL2