has material basis in germline mutation in KMT2A syndromic intellectual disability hereditary disease Wiedemann-Steiner syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome https://www.malacards.org/card/wiedemann_steiner_syndrome UMLS:C1854630 A syndrome of abnormal facies, short stature, and psychomotor retardation Wiedemann-Steiner syndrome Orphanet:319182 WDSTS hairy elbows, short stature, Facial Dysmorphism, and developmental delay Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. MEDGEN:340266 OMIM:605130 GARD:0005565 MONDO:0011518 Wiedemann Grosse Dibbern syndrome MESH:C536704 hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome NORD:150898 multiple congenital anomalies/dysmorphic syndrome-intellectual disability