Disease #00115 (INAD (Infantile Neuroaxonal Dystrophy), OMIM:256600)

Official abbreviation INAD
Name Infantile Neuroaxonal Dystrophy
OMIM ID 256600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PLA2G6
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00000597 Limin Li et al.(2020) M Malaysia - - - - INAD developmental regression starting from the age of 1 year 5 months, bilateral convergent strabismus, central hypotonia, dystonia, tremors, generalized hyper-reflexia and extensor plantar responses, bilateral optic atrophy PLA2G6 PLA2G6 2 1 Nur Aisyah Athirah
00000598 Limin Li et al.(2020) F Malaysia - - - - INAD auditory neuropathy PLA2G6 PLA2G6 2 1 Nur Aisyah Athirah
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