has material basis in germline mutation in PIP5K1C lethal congenital contracture syndrome 3 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 https://www.malacards.org/card/lethal_congenital_contracture_syndrome_3 lethal congenital contractural syndrome 3 DOID:0060653 MEDGEN:369555 PIP5K1C lethal congenital contracture syndrome Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. SCTID:715420005 MONDO:0012656 UMLS:C1969655 MESH:C566961 multiple contracture syndrome, Israeli Bedouin type B lethal congenital contracture syndrome type 3 GARD:0012644 lethal congenital contracture syndrome 3 LCCS3 lethal congenital contracture syndrome caused by mutation in PIP5K1C Orphanet:137783 OMIM:611369 multiple congenital anomalies/dysmorphic syndrome without intellectual disability lethal congenital contracture syndrome