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tall stature-intellectual disability-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Uniprot Description An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis.
Mondo Term and Equivalent IDs
MONDO:0014382:  tall stature-intellectual disability-facial dysmorphism syndrome
Orphanet:404443: 
SCTID:768843007: 
UMLS:C4014545: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found