has material basis in germline mutation in PPM1D congenital nervous system disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability intellectual developmental disorder with gastrointestinal difficulties and high pain threshold https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/jansen_de_vries_syndrome IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}). Jansen de Vries syndrome GARD:0025892 MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MEDGEN:1385744 OMIM:617450 UMLS:C4479517 Orphanet:653767 IDDGIP autosomal dominant syndromic intellectual disability