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Skraban-Deardorff syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip.
Mondo Term and Equivalent IDs
MONDO:0054636:  Skraban-Deardorff syndrome
Orphanet:513456: 
UMLS:C4539927: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found