neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome

A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound hetero

A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33.

Signs and symptoms

• Encephalopathy
• Hypotonia
• Hepatomegaly
• Hypocholesterolemia
• Spasticity
• Increased circulating lactate concentration
• Peripheral axonal neuropathy
• Cerebellar hypoplasia
• Feeding difficulties in infancy
• Fetal distress

Also known as: PHRINL syndrome