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MCID: LKD024
MIFTS: 15
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Leukodystrophy and Acquired Microcephaly with or Without Dystonia
Categories:
Genetic diseases
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MalaCards integrated aliases for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) onset in infancy HPO:32
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
:
75
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 microcephaly and nystagmus
Description from OMIM:
616763
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616763Human phenotypes related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:32 (show all 10)
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MalaCards organs/tissues related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:41
Pons
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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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UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:75
ClinVar genetic disease variations for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:6
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Search
GEO
for disease gene expression data for Leukodystrophy and Acquired Microcephaly with or Without Dystonia.
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