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ENHeimler Syndrome 1 (HMLR1)
Alias:
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Deafness Enamel Hypoplasia Nail Defects
Heimler Syndrome
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome
Peroxisome Biogenesis Disorder 1c
Hmlr1
Pbd1c
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities
Deafness, Enamel Hypoplasia, Nail Defect Syndrome
Peroxisomal Biogenesis Disorder 1c
Heimler Syndrome, Type 1
Heimler, Syndrome
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Heimler Syndrome 1, also known as deafness-enamel hypoplasia-nail defects syndrome, is related to peroxisome biogenesis disorder 1a and zellweger spectrum disorder. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Cell adhesion_ECM remodeling and a6b1 and a6b4 Integrin signaling. Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and diabetes mellitus
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