has material basis in germline mutation in SETBP1 congenital nervous system disorder Schinzel-Giedion syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/schinzel_giedion_midface_retraction_syndrome DOID:0070509 Schinzel-Giedion midface-retraction syndrome MESH:C536632 SGS Schinzel Giedion syndrome Schinzel-Giedion syndrome Schinzel Giedion midface-retraction syndrome Orphanet:798 icd11.foundation:1542318431 UMLS:C0265227 MONDO:0010010 GARD:0000117 NCIT:C129308 Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. NORD:1694 SCTID:18899000 ICD9:759.89 MEDGEN:120517 OMIM:269150 MedDRA:10063540 Schinzel Giedion Syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ectodermal dysplasia syndrome autosomal dominant syndromic intellectual disability