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Alazami-Yuan syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features.
Mondo Term and Equivalent IDs
MONDO:0014931:  Alazami-Yuan syndrome
UMLS:C4310702: