has material basis in germline mutation in SLC12A2 autosomal recessive disease Kilquist syndrome https://github.com/monarch-initiative/mondo/issues/8462 https://www.malacards.org/card/kilquist_syndrome KILQS OMIM:619080 An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. MEDGEN:1742639 Orphanet:633021 MONDO:0033664 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome UMLS:C5436756 GARD:0027953 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome