has material basis in germline mutation in disease has feature RAI1 Autism syndromic intellectual disability syndrome caused by partial chromosomal deletion congenital nervous system disorder Smith-Magenis syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5659 https://www.malacards.org/card/smith_magenis_syndrome UMLS:C0795864 MEDGEN:162881 Orphanet:819 SCTID:401315004 OMIM:182290 NCIT:C75469 Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. MONDO:0008434 Smith-Magenis syndrome, Isolated cases SMITH-Magenis syndrome Smith Magenis Syndrome NANDO:1200687 Smith-Magenis syndrome NORD:1725 MESH:D058496 icd11.foundation:989025532 DECIPHER:8 DOID:0060768 SMS 17p11.2 microdeletion syndrome NANDO:2200954 chromosome 17p11.2 deletion syndrome GARD:0008197 ICD9:758.33 chromosome 17P11.2 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability chromosome 17p deletion Mendelian neurodevelopmental disorder