MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

ORPHA:1969Malf.
Unknown

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

ORPHA:708171Malf.
Autosomal recessive

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

ORPHA:659609Malf.
Autosomal dominant

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

ORPHA:598603Malf.
Autosomal dominant

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

ORPHA:412022Malf.
Autosomal recessive

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

ORPHA:1970Malf.
Autosomal recessive

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

ORPHA:314555Malf.
Autosomal recessive

Facial dysmorphism-shawl scrotum-joint laxity syndrome

ORPHA:1778Malf.

Faciocardiorenal syndrome

ORPHA:1973Malf.
Autosomal recessive

Fallot complex-intellectual disability-growth delay syndrome

ORPHA:3304Malf.
Autosomal recessive

Familial caudal dysgenesis

ORPHA:1768Malf.
Autosomal dominant

Familial cerebral cavernous malformation

ORPHA:221061Malf.
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Malf.
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Malf.
Autosomal dominant

Familial isolated café-au-lait macules

ORPHA:2678Malf.
Autosomal dominant

Familial median cleft of the upper and lower lips

ORPHA:401942Malf.
Unknown

Familial omphalocele syndrome with facial dysmorphism

ORPHA:280403Malf.
Autosomal dominant

Familial osteodysplasia, Anderson type

ORPHA:2769Malf.

Familial retinal arterial macroaneurysm

ORPHA:284247Malf.
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Malf.
Autosomal dominant

Familial vesicoureteral reflux

ORPHA:289365Malf.
Autosomal dominant

Fanconi anemia

ORPHA:84Malf.
Autosomal recessive, X-linked recessive

Feingold syndrome

ORPHA:1305Malf.
Autosomal dominant

Femoral-facial syndrome

ORPHA:1988Malf.
Not applicable