Details of Disease

General Information of Disease (ID: DISUQ332)

Disease Name Microcephaly-thin corpus callosum-intellectual disability syndrome
Synonyms
MRT40; intellectual disability, autosomal recessive 40; mental retardation, autosomal recessive 40; microcephaly-thin corpus callosum-intellectual disability syndrome; mental retardation, autosomal recessive type 40; intellectual disability, autosomal recessive type 40; intellectual developmental disorder, autosomal recessive 40
Definition
Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Disease Hierarchy
DISYKSRF: Genetic disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISUQ332: Microcephaly-thin corpus callosum-intellectual disability syndrome
Disease Identifiers
MONDO ID
MONDO_0014273
UMLS CUI
C3810080
OMIM ID
615599
MedGen ID
816410
Orphanet ID
397951

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TAF2 TTHMP8B Limited Biomarker [1]
CRBN TTDKGTC Strong Biomarker [2]
TAF2 TTHMP8B Strong Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TAF2 OTTIGJ9M Strong Autosomal recessive [3]
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References

1 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.
2 Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.J Neurosci. 2018 Mar 14;38(11):2780-2795. doi: 10.1523/JNEUROSCI.0599-17.2018. Epub 2018 Feb 19.
3 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.