Disease #02003

Official abbreviation HLD-3
Name leukodystrophy, hypomyelinating, type 3 (HLD-3)
OMIM ID 260600
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene AIMP1
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Individuals

1 entry on 1 page. Showing entry 1.
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00092263 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - HLD-3 profound IDD, intractable epilepsy, developmental arrest, microcephaly, primary neurodegenerative disorder with secondary demyelination leukodystrophy AIMP1 - 0 1 Johan den Dunnen
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