An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
symphalangism
MONDO:0000151
Neu-Laxova syndrome
MONDO:0000179
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508
cartilage cancer
MONDO:0000639
vertebral column disorder
MONDO:0000812