Phenotypes for disease #02003 (HLD3 (leukodystrophy, hypomyelinating, type 3 (HLD-3)), OMIM:260600)

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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000070599 profound IDD, intractable epilepsy, developmental arrest, microcephaly, primary neurodegenerative disorder with secondary demyelination leukodystrophy - - Familial, autosomal recessive - - - - - Johan den Dunnen 00092263
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