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

Log in to bookmark this disease

Bookmark This Disease

Subtype of: Short stature
Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
MONDO_0014948
ARCN1 Causal
27476655 33154040 31075182
Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.
4 View disease cluster →
Short stature-micrognathia syndrome 1 shared geneARCN1 Related via 1 shared gene including ARCN1. Microcephalic dwarfism 1 shared geneARCN1 Related via 1 shared gene including ARCN1. Ataxia 1 shared geneARCN1 Related via 1 shared gene including ARCN1. Desbuquois syndrome 1 shared geneARCN1 Related via 1 shared gene including ARCN1.