has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of SLC17A5 sialic acid transmembrane transporter activity Salla disease https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/4754/salla-disease https://www.malacards.org/card/salla_disease NANDO:2201294 sialic acid storage disease MONDO:0011449 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. OMIM:604369 SD NCIT:C85067 UMLS:C1096903 SCTID:87074006 GARD:0004754 NANDO:1200149 Orphanet:309334 MEDGEN:203368 Salla disease NANDO:1200582 MedDRA:10067531 disorder of carbohydrate transmembrane transport and absorption free sialic acid storage disease