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LDAMD
MCID: LKD024
MIFTS: 20
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Leukodystrophy and Acquired Microcephaly with or Without Dystonia (LDAMD)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) HPO:31
leukodystrophy and acquired microcephaly with or without dystonia:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
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UniProtKB/Swiss-Prot :
73
Leukodystrophy and acquired microcephaly with or without dystonia: An autosomal recessive neurologic disorder characterized by profound mental retardation, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy.
MalaCards based summary : Leukodystrophy and Acquired Microcephaly with or Without Dystonia, is also known as ldamd. An important gene associated with Leukodystrophy and Acquired Microcephaly with or Without Dystonia is PLEKHG2 (Pleckstrin Homology And RhoGEF Domain Containing G2). Affiliated tissues include pons, and related phenotypes are nystagmus and global developmental delay KEGG : 36 Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin cytoskeleton.
More information from OMIM:
616763
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Human phenotypes related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616763 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:40
Pons
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Articles related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:
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Genes related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:6
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:73
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Search
GEO
for disease gene expression data for Leukodystrophy and Acquired Microcephaly with or Without Dystonia.
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