has material basis in germline mutation in KAT6B syndromic intellectual disability syndromic disease genitopatellar syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome https://www.malacards.org/card/genitopatellar_syndrome UMLS:C1853566 Orphanet:85201 GTPTS SCTID:702367005 MEDGEN:381208 MONDO:0011640 genitopatellar syndrome MESH:C565255 absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. OMIM:606170 ICD9:759.89 absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome GARD:0010994 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skeletal dysplasia dysostosis