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Table 1 Classified OFDS

From: Update on oral-facial-digital syndromes (OFDS)

OFD subtypes

MIM#

Altern SYMB

Aliases

Gene

REF*/Notes

OFDI

311200

OFDSI; OFD1

Orofaciodigital type I; Oral-facial-digital type I; Papillon-Leage/Psaume syndrome

OFD1

[7, 13]

OFDII

252100

OFDSII; OFD2

Orofaciodigital type II; Oral-facial-digital type II; Mohr syndrome

–

[3]

OFDIII

258850

OFDSIII; OFD3

Orofaciodigital type III; Oral-facial-digital type III: Sugarman syndrome

TMEM231

[29]

OFD IV

258860

OFDSIV; OFD4

Orofaciodigital type IV; Oral-facial-digital type IV; Mohr-Majewski Baraitser syndrome

TCTN3

[32]

OFDV

174300

OFDSV; OFD5

Orofaciodigital type V; Oral-facial-digital type V Thurston syndrome

–

[3] /Indian origin

OFDVI

277170

OFDSVI; OFD6

Orofaciodigital type VI; Oral-facial-digital type VI Varadi syndrome

TMEM216 OFD1, C5ORF42 TMEM107

[24, 34–37]

OFDVII

608518

OFDSVII; OFD7

Orofaciodigital type VII; Oral-facial-digital type VII

 

[3]

OFDVIII

300484

OFDSVIII; OFD8

Orofaciodigital type VIII;

Oral-facial-digital type VIII; Edwards syndrome

–

[3]

OFDIX

258865

OFDSIX; OFD9

Orofaciodigital type IX;

Oral-facial-digital type IX

TBC1D32 SCLT1

[41]

OFDX

 

OFDSX; OFD10

Orofaciodigital type X; Oral-facial-digital type X; Figuera syndrome

–

[3]

OFDXI

 

OFDXI; OFD11

Orofaciodigital type XI; Oral-facial-digital type XI; Gabrielli syndrome

–

[3]

OFDXII

 

OFDXII; OFD12

Orofaciodigital type XII; Oral-facial-digital type XII; Moran Barroso Syndrome

–

[3]

OFDXIII

 

OFD XIII; OFD13

Orofaciodigital type XIII; Oral-facial-digital type XIII; Degner syndrome

–

[3]

OFDXIV

615948

OFDXIV; OFD14

Orofaciodigital type XIV; Oral-facial-digital type XIV;

C2CD3

[43]

Unclassified OFD

   

WDPCP

[44]

Unclassified OFD

   

DDX59

[47]

  1. * References for disease gene identification and/or review discussing the main features of the disease