Metadata | |
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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 | |
Synonyms |
peroxisomal biogenesis disorder 4C [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |