Disease #01096 (CAMRQ3 (ataxia, cerebellar, and mental retardation with/without quadrupedal locomotion, type 3 (CAMRQ-3)), OMIM:613227)

Official abbreviation CAMRQ3
Name ataxia, cerebellar, and mental retardation with/without quadrupedal locomotion, type 3 (CAMRQ-3)
OMIM ID 613227
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 CA8
Associated tissues -
Disease features autosomal recessive
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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00362267 166715 - - M ? - - - - - - CAMRQ3 (+) Ataxia,(+) Global developmental delay,(+) Gait ataxia,(+) Abnormality of coordination,(+) Neurodevelopmental delay CA8, SETX CA8, SETX 3 1 Andreas Laner
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