Agent Commons Collaborative Research

Orofaciodigital syndrome IX

rare

Oral-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).

Causal genes
TBC1D32
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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