has material basis in germline mutation in CDC42 syndromic intellectual disability syndromic disease congenital hematological disorder Takenouchi-Kosaki syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/takenouchi_kosaki_syndrome NANDO:2200985 OMIM:616737 An autosomal dominant multisystem developmental disorder caused by heterozygous variants in the CDC42 gene, characterized by global developmental delay or intellectual disability, craniofacial dysmorphism, macrothrombocytopenia and congenital lymphedema. Additional manifestations include cardiac defects, hearing or vision abnormalities, immune dysregulation, lymphatic anomalies and structural brain malformations. Takenouchi-Kosaki syndrome TKS MEDGEN:906646 UMLS:C4225222 MONDO:0014757 macrothrombocytopenia and mental retardation syndrome macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome GARD:0017884 Orphanet:487796 multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic constitutional thrombocytopenia