Diseases

Parkinson Disease 23, Autosomal Recessive Early-Onset

parkinson disease 23, autosomal recessive early-onset

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Disease Name: Parkinson Disease 23, Autosomal Recessive Early-Onset
Standard Disease Name: parkinson disease 23, autosomal recessive early-onset
MeSH Tree: No data
ICD-10: Q04.0

DO ID: No data
MeSH ID: D061085
OMIM ID: MTHU004110|217990|MTHU031863|MTHU012138|MTHU000061|MTHU007063|MTHU022910|MTHU005338|MTHU001604|MTHU051057
UMLS ID: C0175754
HPO ID: No data

Description: NCI2016_02D:A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.|MSH2017_2016_08_12:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.|HPO2016_07_04:Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [HPO:curators]

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