SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719378009
http://purl.bioontology.org/ontology/SNOMEDCT/719378009
Preferred Name

Microcephalus with brachydactyly and kyphoscoliosis syndrome

Definitions
This syndrome has characteristics of profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Synonyms
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
Viljoen Kallis Voges syndrome
Microcephaly with brachydactyly and kyphoscoliosis syndrome
Type http://www.w3.org/2002/07/owl#Class
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