has material basis in germline mutation in GNE sialuria https://www.malacards.org/card/sialuria Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. sialuria SCTID:238051008 MedDRA:10067529 GARD:0004865 ICD9:796.4 sialuria, French type OMIM:269921 Orphanet:3166 icd11.foundation:154329034 UMLS:C0342853 MEDGEN:137980 DOID:3659 MONDO:0010028 disorder of sialic acid metabolism free sialic acid storage disease