Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
MOTA syndrome is an autosomal recessive dysmorphic eye syndrome caused by mutations of the FREM1 gene. It is characterized by multiple malformations of the eye and an aberrant hairline.
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Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 
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| 2. |
Slavotinek AM et al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
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| 3. |
None (2001) Micro-ablepharon of the upper eyelids and vaginal atresia.
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| 4. |
Li C et al. (2007) Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
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| 5. |
None (1976) Anatomical classification facial, cranio-facial and latero-facial clefts.
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| 6. |
Marles SL et al. (1992) New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.
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| 7. |
Yeung A et al. (2009) Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.
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| 8. |
OMIM.ORG article Omim 248450
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| 9. |
Orphanet article Orphanet ID 2717
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