C8E5CEE91E4A40489A47D12EA60C0D5C806EA48BEA224DA3C6519E86CBDC1FA7E8ABFB06889CB3E9C51980CCB354D562

Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity.

Source:http://purl.uniprot.org/SHA-384/C8E5CEE91E4A40489A47D12EA60C0D5C806EA48BEA224DA3C6519E86CBDC1FA7E8ABFB06889CB3E9C51980CCB354D562

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Predicate	Object
rdf:type	uniprot:Disease_Annotation
rdfs:comment	Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity.