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severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment.
Mondo Term and Equivalent IDs
MONDO:0014787:  severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Orphanet:466688: 
UMLS:C4225193: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found