MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Brachydactyly type A7

ORPHA:93397Malf.

Brachydactyly type B

ORPHA:93383Malf.
Autosomal dominant

Brachydactyly type B1

ORPHA:572385Kl. subt.
Autosomal dominant

Brachydactyly type B2

ORPHA:140908Kl. subt.
Autosomal dominant

Brachydactyly type C

ORPHA:93384Malf.
Autosomal dominant, Autosomal recessive

Brachydactyly type E

ORPHA:93387Malf.
Autosomal dominant

Brachydactyly-arterial hypertension syndrome

ORPHA:1276Malf.
Autosomal dominant

Brachydactyly-elbow wrist dysplasia syndrome

ORPHA:1275Malf.
Autosomal dominant

Brachydactyly-long thumb syndrome

ORPHA:2946Malf.
Autosomal dominant

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

ORPHA:1277Malf.

Brachydactyly-nystagmus-cerebellar ataxia syndrome

ORPHA:1246Malf.
Unknown

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278Malf.
Autosomal dominant

Brachydactyly-short stature-retinitis pigmentosa syndrome

ORPHA:166035Malf.
Autosomal recessive

Brachydactyly-syndactyly, Zhao type

ORPHA:93409Malf.
Autosomal dominant

Brachymorphism-onychodysplasia-dysphalangism syndrome

ORPHA:1292Malf.
Autosomal dominant

Brachyolmia

ORPHA:1293Kl. gruppe
Autosomal dominant, Autosomal recessive

Brachyolmia, Maroteaux type

ORPHA:93302Malf.
Autosomal recessive

Brachyolmia-amelogenesis imperfecta syndrome

ORPHA:2899Malf.
Autosomal recessive

Brachytelephalangic chondrodysplasia punctata

ORPHA:79345Malf.
X-linked recessive

Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295Malf.
Autosomal dominant

Braddock syndrome

ORPHA:52047Malf.
Autosomal recessive

Bradyopsia

ORPHA:75374Kr.
Autosomal recessive

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

ORPHA:664410Malf.
Autosomal dominant, Not applicable

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

ORPHA:664416Ätl. subt.
Autosomal dominant