Disease #04616 (AOA4 (ataxia-oculomotor apraxia, type 4 (AOA-4)), OMIM:616267)

Official abbreviation AOA4
Name ataxia-oculomotor apraxia, type 4 (AOA-4)
OMIM ID 616267
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene PNKP
Associated tissues -
Disease features onset infancy-adulthood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), cognitive impairment (HP:0100543), oculomotor apraxia (HP:0000657), dystonia (HP:0001332)
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2024-09-10 21:11:43 +02:00 (CEST)

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