Details of Disease | DrugMAP

General Information of Disease (ID: DISGZW9I)

Disease Name	Intellectual developmental disorder, autosomal recessive 68
Synonyms	Mental Retardation, Autosomal Recessive 68; MRT68; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISGZW9I: Intellectual developmental disorder, autosomal recessive 68
Disease Identifiers	MONDO ID MONDO_0032665 UMLS CUI C4749033 OMIM ID 618302 MedGen ID 1648490

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRMT1	OTV0WBHX	Strong	Autosomal recessive	[1]
TRMT10A	OTQ5AKN4	Definitive	Autosomal recessive	[2]
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References

1	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
2	Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. F1000Res. 2015 Sep 28;4:912. doi: 10.12688/f1000research.7106.1. eCollection 2015.