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Metadata
ID DOID:0080624
Name Heimler syndrome 2
Definition A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
https://www.ncbi.nlm.nih.gov/pubmed/16530715
Xrefs

OMIM:616617

Synonyms

peroxisomal biogenesis disorder 4C [EXACT]

Parent Relationships

is_a peroxisomal biogenesis disorder

is_a autosomal recessive disease

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