Term ID: | 18598 |
Name: | neonatal adrenoleukodystrophy |
Definition: | Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term). |
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Synonyms: | adrenoleukodystrophy autosomal neonatal form; NALD |
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OMIM: MSeqDR : Genes: |
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