has material basis in germline mutation in KCNK9 autosomal dominant disease syndromic intellectual disability Birk-Barel syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome https://www.malacards.org/card/birk_barel_syndrome Orphanet:166108 Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). Birk Barel intellectual disability dysmorphism syndrome UMLS:C2676770 BIRK-Barel mental retardation dysmorphism syndrome intellectual disability-hypotonia-facial dysmorphism syndrome SCTID:764861005 MESH:C567357 Birk-Barel syndrome MONDO:0012856 GARD:0010358 MEDGEN:393583 Birk Barel mental retardation dysmorphism syndrome DOID:0050675 mental retardation with hypotonia and Facial Dysmorphism KCNK9 Imprinting Syndrome NORD:1896 OMIM:612292 BIRK-Barel intellectual disability dysmorphism syndrome