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Fraser syndrome 1

Disease Summary
Associated Targets (3)
Tbio

3


Uniprot Description A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.
Mondo Term and Equivalent IDs
MONDO:0054737:  Fraser syndrome 1
DOID:0111405: