2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/2p21_microdeletion_syndrome_without_cystinuria Del(2)(p21) without cystinuria UMLS:C4749458 MEDGEN:1666351 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Orphanet:369881 GARD:0021581 MONDO:0018245