Disease #00802 (CAMRQ1 (ataxia, cerebellar, mental retardation, quadrupedal locomotion, type 1 (CAMRQ-1)), OMIM:224050)

Official abbreviation CAMRQ1
Name ataxia, cerebellar, mental retardation, quadrupedal locomotion, type 1 (CAMRQ-1)
OMIM ID 224050
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene VLDLR
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00057180 - - - F no Italy - - - - - CAMRQ1 At 22 months of age, the patient showed global hypotonia, truncal ataxia, nystagmus, intentional tremor, dysmetria and motor delay. At age of 12 years mild dysarthria, moderate intellectual impairment and mild ataxia gait were present, nystagmus was absent and walking without support. MRI, performed at 3 and 9 years of age, showed marked but not progressive ponto-cerebellar hypoplasia associated to mild simplification of cortical gyration VLDLR VLDLR 1 1 Enza Maria Valente
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