Delpire-McNeill syndrome
Any neurodevelopmental disorder in which the cause of the disease is a mutation in the SLC12A2 gene. It is characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
DELMNES
exact
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
exact