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THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur.
Mondo Term and Equivalent IDs
MONDO:0013362:  THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Orphanet:363444: 
UMLS:C3150939: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found