You are using an outdated browser. Please upgrade your browser to improve your experience.

intellectual disability, autosomal recessive 2

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features.
Mondo Term and Equivalent IDs
MONDO:0011828:  intellectual disability, autosomal recessive 2
MESH:C564404: 
UMLS:C1843942: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found