MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

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

ORPHA:1969Мальформация
Unknown

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

ORPHA:708171Мальформация
Autosomal recessive

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

ORPHA:659609Мальформация
Autosomal dominant

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

ORPHA:598603Мальформация
Autosomal dominant

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

ORPHA:412022Мальформация
Autosomal recessive

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

ORPHA:1970Мальформация
Autosomal recessive

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

ORPHA:314555Мальформация
Autosomal recessive

Facial dysmorphism-shawl scrotum-joint laxity syndrome

ORPHA:1778Мальформация

Faciocardiorenal syndrome

ORPHA:1973Мальформация
Autosomal recessive

Fallot complex-intellectual disability-growth delay syndrome

ORPHA:3304Мальформация
Autosomal recessive

Familial caudal dysgenesis

ORPHA:1768Мальформация
Autosomal dominant

Familial cerebral cavernous malformation

ORPHA:221061Мальформация
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Мальформация
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Мальформация
Autosomal dominant

Familial isolated café-au-lait macules

ORPHA:2678Мальформация
Autosomal dominant

Familial median cleft of the upper and lower lips

ORPHA:401942Мальформация
Unknown

Familial omphalocele syndrome with facial dysmorphism

ORPHA:280403Мальформация
Autosomal dominant

Familial osteodysplasia, Anderson type

ORPHA:2769Мальформация

Familial retinal arterial macroaneurysm

ORPHA:284247Мальформация
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Мальформация
Autosomal dominant

Familial vesicoureteral reflux

ORPHA:289365Мальформация
Autosomal dominant

Fanconi anemia

ORPHA:84Мальформация
Autosomal recessive, X-linked recessive

Feingold syndrome

ORPHA:1305Мальформация
Autosomal dominant

Femoral-facial syndrome

ORPHA:1988Мальформация
Not applicable