has material basis in germline mutation in EXT2 syndromic intellectual disability seizures-scoliosis-macrocephaly syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/seizures_scoliosis_and_macrocephaly_microcephaly_syndrome https://www.malacards.org/card/seizures_scoliosis_macrocephaly_syndrome SSMS seizures, scoliosis, and macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. GARD:0017836 Orphanet:466926 MONDO:0014731 OMIM:616682 SSM syndrome UMLS:C4225248 MEDGEN:909039 congenital disorder of glycosylation