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short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay.
Mondo Term and Equivalent IDs
MONDO:0014948:  short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
UMLS:C4310686: