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MRT34
MCID: MNT283
MIFTS: 22
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Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly (MRT34)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:
Characteristics:HPO:31
mental retardation, autosomal recessive 34, with variant lissencephaly:
Inheritance autosomal recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot :
72
Mental retardation, autosomal recessive 34, with variant lissencephaly: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present.
MalaCards based summary : Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly, is also known as mrt34. An important gene associated with Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly is CRADD (CASP2 And RIPK1 Domain Containing Adaptor With Death Domain). Affiliated tissues include cortex, cerebellum and brain, and related phenotypes are seizure and intellectual disability OMIM® : 57 MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016). (614499) (Updated 05-Apr-2021) |
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Human phenotypes related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:614499 (Updated 05-Apr-2021) |
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MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:40
Cortex,
Cerebellum,
Brain
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Articles related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:
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Genes related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:6
UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:72
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly.
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