has material basis in germline mutation in MTOR syndromic intellectual disability congenital nervous system disorder macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/smith_kingsmore_syndrome SKS MONDO:0014716 MINDS syndrome A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. UMLS:C4225259 NORD:91167 Smith-Kingsmore Syndrome OMIM:616638 GARD:0013636 Orphanet:457485 macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism MEDGEN:899689 Smith-Kingsmore syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes hereditary neurological disease