Human Disease and Mouse Model Detail
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Human Disease
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Ifap Syndrome with or without Bresheck Syndrome
OMIM ID: 308205
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Synonyms
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Ichthyosis Follicularis, Atrichia, and Photophobia with or without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia
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Genes and
mouse models
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Mutations in human and/or mouse homologs are associated with this disease
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*Gene is associated with the disease in this species |
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Mbtps2
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MBTPS2*
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1:1 Homology
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Analysis Tools