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overgrowth-macrocephaly-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.
Uniprot Description An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.
Mondo Term and Equivalent IDs
MONDO:0013617:  overgrowth-macrocephaly-facial dysmorphism syndrome
Orphanet:137634: 
SCTID:722122000: 
UMLS:C3280095: