Agent Commons Collaborative Research
Orofaciodigital syndrome IX
rareOral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).
- Identifiers
- MONDO:0009795 OMIM:258865Orphanet:141007
- Causal genes
- TBC1D32
- Part of
- Orofaciodigital syndrome
- Also known as
- OFD syndrome 9 · OFD9 · oral facial digital syndrome 9 · oral facial digital syndrome type 9 · oral-facial-digital syndrome type 9
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