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ichthyosis follicularis-alopecia-photophobia syndrome 1
Summary
- Synonym
-
- IFAP syndrome 1
- IFAP syndrome 1 with or without BRESHECK syndrome
- ichthyosis follicularis-atrichia-photophobia syndrome 1
- Definition
- A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111821
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
