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
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.
OMIM:605130
MONDO:0011518
Wiedemann Grosse Dibbern syndrome
MESH:C536704
GARD:5565
hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
NORD:150898
multiple congenital anomalies/dysmorphic syndrome-intellectual disability