Autosomal recessive primary microcephaly

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Subtype of: Primary microcephaly
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
autosomal recessive primary microcephaly
MONDO_0016660MONDO_0009617
ASPM Causal
12355089 14574646 16673149 18452193 19028728 19353628 19770472 22775483 22989186 27250695 30500859
ClinGen, Open Targets —
CIT Causal
27453578 27503289 27519304 27453579
Open Targets
CPAP Causal
22020124 15793586
Open Targets —
MCPH1 Causal
7693575 20978018 12046007 30500859 16311745 11857108 16211557 15199523
Open Targets
All24 Causal4 Unknown20
Related Diseases Diseases that share the most curated genes with Autosomal recessive primary microcephaly.
5 View disease cluster →
Corpus callosum agenesis 1 shared geneCDK5RAP2 Related via 1 shared gene including CDK5RAP2. Urethral syndrome 1 shared geneCDK5RAP2 Related via 1 shared gene including CDK5RAP2. Primary microcephaly 4 shared genesCENPE, ASPM, CDK5RAP2, STIL Related via 4 shared genes including CENPE, ASPM, CDK5RAP2. Congenital malformation syndromes associated with short stature 1 shared geneCDK5RAP2 Related via 1 shared gene including CDK5RAP2. Seckel syndrome 2 shared genesCENPE, CDK5RAP2 Related via 2 shared genes including CENPE, CDK5RAP2.