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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Lethal neonatal spasticity-epileptic encephalopathy syndrome

ORPHA:435845Порок
Autosomal recessive

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925Порок
Autosomal recessive

Lethal omphalocele-cleft palate syndrome

ORPHA:2736Порок
Autosomal recessive

Lethal polymalformative syndrome, Boissel type

ORPHA:210144Порок
Autosomal recessive

Lethal recessive chondrodysplasia

ORPHA:1423Порок
Autosomal recessive

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

ORPHA:1816Порок
Autosomal recessive

Limb body wall complex

ORPHA:2369Порок
Not applicable

Limb-mammary syndrome

ORPHA:69085Порок
Autosomal dominant

Lipoid proteinosis

ORPHA:530Порок
Autosomal recessive

Lissencephaly due to TUBA1A mutation

ORPHA:171680Порок
Autosomal dominant, Not applicable

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Порок
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Порок
Autosomal recessive

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011Порок

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012Порок

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013Порок

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014Порок

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015Порок

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016Порок

Loeys-Dietz syndrome

ORPHA:60030Порок
Autosomal dominant, Autosomal recessive

Lowe-Kohn-Cohen syndrome

ORPHA:2408Порок

Lower limb malformation-hypospadias syndrome

ORPHA:2487Порок

Lowry-MacLean syndrome

ORPHA:2409Порок
Autosomal dominant

Lujan-Fryns syndrome

ORPHA:776Порок
X-linked recessive

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Порок