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Lamb-Shaffer syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.
Mondo Term and Equivalent IDs
MONDO:0014778:  Lamb-Shaffer syndrome
Orphanet:530983: 
UMLS:C4225202: