Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015).
For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (234580). [from OMIM]
- MedGen UID:
- 903520
- •Concept ID:
- C4225267
- •
- Disease or Syndrome