Disease #00215 (KRS;CLN12;PARK9 (lipofuscinosis, ceroid, neuronal, autosomal recessive,type 4A, Kufs type (CLN-4A), Parkinson disease type 9 (PARK99)), OMIM:606693)

Official abbreviation KRS;CLN12;PARK9
Name lipofuscinosis, ceroid, neuronal, autosomal recessive,type 4A, Kufs type (CLN-4A), Parkinson disease type 9 (PARK99)
OMIM ID 606693
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene ATP13A2
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00003015 - - - - - - - - - - - KRS;CLN12;PARK9 HSP + Parkinson disease 9 ATP13A2 ATP13A2 1 1 Marcel Nelen
00102746 21542062-PatIIa PubMed: Park 2011 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no - Asian - 0 - - KRS;CLN12;PARK9 - ATP13A2 ATP13A2 2 2 Johan den Dunnen
00102747 21542062-PatIIb PubMed: Park 2011 sister of IIa F no - Asian - 0 - - KRS;CLN12;PARK9 - ATP13A2 ATP13A2 2 1 Johan den Dunnen
00307875 ? - - M yes Oman - - 0 - - KRS;CLN12;PARK9 Visual impairment, Retinal dystrophy, Seizures, Muscular hypotonia, Global developmental delay, Brisk reflexes, Hepatomegaly, Exaggerated startle response, Elevated hepatic transaminase, Mongolian blue spot, Brain atrophy, Abnormal myelination ATP13A2 ATP13A2 1 1 Corina-Marcela Rus
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