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neurodevelopmental disorder with midbrain and hindbrain malformations

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain-hindbrain malformations, and variable dysmorphic features.
Mondo Term and Equivalent IDs
MONDO:0056797:  neurodevelopmental disorder with midbrain and hindbrain malformations
UMLS:C4479613: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found