has material basis in germline mutation in SLC12A2 autosomal dominant disease Delpire-McNeill syndrome https://github.com/monarch-initiative/mondo/issues/8461 https://www.malacards.org/card/delpire_mcneill_syndrome MONDO:0033667 Orphanet:633024 DELMNES GARD:0018533 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome UMLS:C5436771 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. OMIM:619083 MEDGEN:1725056 Mendelian neurodevelopmental disorder