| 1 | Q5H8C1 | FRAS1-related extracellular matrix protein 1 | 2179 | | "DISEASE: Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations.
A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]: A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Trigonocephaly 2 (TRIGNO2) [MIM:614485]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures.
It results in a triangular shape of the head.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 2 | Q5SZK8 | FRAS1-related extracellular matrix protein 2 | 3169 | | "DISEASE: Fraser syndrome 2 (FRASRS2) [MIM:617666]: 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.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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