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Wiedemann-Steiner syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011518

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. [ https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome ]

Synonyms: hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Wiedemann-Steiner syndrome

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://www.orpha.net/ORDO/Orphanet_319182

http://identifiers.org/mesh/C536704

https://omim.org/entry/605130

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

hairy elbows, short stature, Facial Dysmorphism, and developmental delay

Wiedemann Grosse Dibbern syndrome

A syndrome of abnormal facies, short stature, and psychomotor retardation

WDSTS

id

MONDO:0011518

seeAlso

https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome

https://search.clinicalgenome.org/kb/conditions/MONDO:0011518