has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of ST3GAL5 lactosylceramide alpha-2,3-sialyltransferase activity disease skin disorder autosomal recessive disease inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of phospholipids, sphingolipids and fatty acids biosynthesis GM3 synthase deficiency https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/salt_and_pepper_developmental_regression_syndrome https://www.malacards.org/card/salt_and_pepper_syndrome_2 GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. disorder of lactosylceramide alpha-2,3-sialyltransferase activity UMLS:C1836824 infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness ST3GAL5-CDG MONDO:0018274 infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome salt & pepper syndrome DOID:0060470 GM3 synthase deficiency Amish infantile epilepsy syndrome Orphanet:370938 salt and pepper mental retardation syndrome Orphanet:370933 Orphanet:171714 epilepsy syndrome, infantile-onset symptomatic lactosylceramide alpha-2,3-sialyltransferase activity disease salt and pepper developmental regression syndrome SPDRS OMIM:609056 GARD:0012059 MEDGEN:323005 SCTID:722762005 skin pigmentation disorder