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MCID: LSS030
MIFTS: 21
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Lissencephaly 7 with Cerebellar Hypoplasia
Categories:
Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Lissencephaly 7 with Cerebellar Hypoplasia:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth death in first days or months of life one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) HPO:32
lissencephaly 7 with cerebellar hypoplasia:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases |
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UniProtKB/Swiss-Prot
:
75
Lissencephaly 7, with cerebellar hypoplasia: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS7 patients manifest lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy.
MalaCards based summary : Lissencephaly 7 with Cerebellar Hypoplasia, is also known as lis7. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5). Affiliated tissues include cortex and skeletal muscle, and related phenotypes are short neck and agenesis of corpus callosum OMIM : 57 Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616342) |
Diseases in the Lissencephaly with Cerebellar Hypoplasia family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616342Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:32 (show all 13)
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MalaCards organs/tissues related to Lissencephaly 7 with Cerebellar Hypoplasia:41
Cortex,
Skeletal Muscle
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Genes related to Lissencephaly 7 with Cerebellar Hypoplasia (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lissencephaly 7 with Cerebellar Hypoplasia:6
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Search
GEO
for disease gene expression data for Lissencephaly 7 with Cerebellar Hypoplasia.
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