Delpire-McNeill syndrome

Delpire-McNeill syndrome is a neurodevelopmental disorder caused by a mutation in the SLC12A2 gene. People with this condition often have challenges in overall development and learning. The condition is marked by delays in speech and motor skills, and difficulties with balance and coordination. In addition to developmental delays and mild to moderate intellectual disability, individuals may experience hearing loss and autistic features. Some may also have additional features such as heart defects, issues with the esophagus, hip problems, difficulties with swallowing, and certain brain abnormalities.

Common symptoms include global developmental delay, mild to moderate intellectual disability, delayed or absent speech, and low muscle tone which may lead to delayed or absent walking. Bilateral sensorineural deafness and autistic features are also noted. Variable features can include heart defects like ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties that might require tube feeding, and brain anomalies.

This condition is caused by a mutation in the SLC12A2 gene. As a genetic disorder, it primarily affects the development of the brain and muscles, leading to the symptoms observed in affected individuals.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.