Disease #00116 (ANEC (Acute Necrotizing Encephalopathy of Childhood), OMIM:608033)

Official abbreviation ANEC
Name Acute Necrotizing Encephalopathy of Childhood
OMIM ID 608033
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene RANBP2
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00000599 H B Chew et al.(2020) F Malaysia Malay - - - ANEC Hypertonia, hyper-reflexia and extensor Babinski response, Impaired vision & color vision, Right homonymous hemianopia RANBP2 RANBP2 1 1 Nur Aisyah Athirah
00000600 H B Chew et al.(2020) F Malaysia Malay - - - ANEC Shock and acute kidney injury, Right hemiparesis, Impaired swallow RANBP2 RANBP2 1 1 Nur Aisyah Athirah
00000601 H B Chew et al.(2020) F Malaysia Malay - - - ANEC Loss of vision RANBP2 RANBP2 1 1 Nur Aisyah Athirah
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