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IOLOD
MCID: DYS188
MIFTS: 20
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Dyskinesia, Limb and Orofacial, Infantile-Onset (IOLOD)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Dyskinesia, Limb and Orofacial, Infantile-Onset:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy two unrelated families have been reported (last curated april 2016) HPO:32
dyskinesia, limb and orofacial, infantile-onset:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
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OMIM
:
57
Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016). (616921)
MalaCards based summary : Dyskinesia, Limb and Orofacial, Infantile-Onset, is also known as iolod. An important gene associated with Dyskinesia, Limb and Orofacial, Infantile-Onset is PDE10A (Phosphodiesterase 10A). Affiliated tissues include brain, and related phenotypes are orofacial dyskinesia and dysarthria UniProtKB/Swiss-Prot : 74 Dyskinesia, limb and orofacial, infantile-onset: An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. |
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Human phenotypes related to Dyskinesia, Limb and Orofacial, Infantile-Onset:59 32 (showing 16, show less)
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MalaCards organs/tissues related to Dyskinesia, Limb and Orofacial, Infantile-Onset:41
Brain
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Articles related to Dyskinesia, Limb and Orofacial, Infantile-Onset:(showing 1, show less)
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Genes related to Dyskinesia, Limb and Orofacial, Infantile-Onset (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Dyskinesia, Limb and Orofacial, Infantile-Onset:6 (showing 3, show less)
UniProtKB/Swiss-Prot genetic disease variations for Dyskinesia, Limb and Orofacial, Infantile-Onset:74 (showing 2, show less)
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Search
GEO
for disease gene expression data for Dyskinesia, Limb and Orofacial, Infantile-Onset.
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