| Metadata | |
|---|---|
| ID | DOID:0080623 |
| Name | Heimler syndrome 1 |
| 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 homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/26387595 |
| Xrefs | |
| Synonyms |
Deafness-enamel hypoplasia-nail defects syndrome [BROAD] peroxisomal biogenesis disorder 1C [EXACT] |
| Parent Relationships |