Rare Disease Library

Orofaciodigital syndrome type 11

OFD11 · Oral-facial-digital syndrome type 11

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

OBSOLETE: DDX59-related orofaciodigital syndrome

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Orofaciodigital syndrome type 1

OFD1 · OFDI

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Orofaciodigital syndrome type 18

OFD18 · Oral-facial-digital syndrome type 18

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Orofaciodigital syndrome type 8

OFD8 · Oral-facial-digital syndrome type 8

Orofaciodigital syndrome type 9

Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2