Rare Disease Library

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcephaly-cervical spine fusion anomalies syndrome

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome

Midline cerebral malformation

Midline brain malformation

Non-syndromic cerebral malformation

Non-syndromic brain malformation

Non-syndromic cerebral malformation due to abnormal neuronal migration

Brain malformation due to abnormal neuronal migration

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Orofaciodigital syndrome type 1

OFD1 · OFDI

Orofaciodigital syndrome type 11

OFD11 · Oral-facial-digital syndrome type 11

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

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Bonnemann-Meinecke syndrome

Rare developmental defect during embryogenesis

Malformation syndrome