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Warburg micro syndrome

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
Disease Ontology Description An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
Mondo Term and Equivalent IDs
MONDO:0016649:  Warburg micro syndrome
GARD:0005534: 
OMIMPS:600118: 
Orphanet:2510: 
UMLS:CN158709: