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microcephaly-brachydactyly-kyphoscoliosis syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by 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.
Mondo Term and Equivalent IDs
MONDO:0018091:  microcephaly-brachydactyly-kyphoscoliosis syndrome
GARD:0005490: 
MESH:C536349: 
Orphanet:3433: 
SCTID:719378009: 
UMLS:C2931177: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found