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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Lethal neonatal spasticity-epileptic encephalopathy syndrome

ORPHA:435845Malform.
Autosomal recessive

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925Malform.
Autosomal recessive

Lethal omphalocele-cleft palate syndrome

ORPHA:2736Malform.
Autosomal recessive

Lethal polymalformative syndrome, Boissel type

ORPHA:210144Malform.
Autosomal recessive

Lethal recessive chondrodysplasia

ORPHA:1423Malform.
Autosomal recessive

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

ORPHA:1816Malform.
Autosomal recessive

Limb body wall complex

ORPHA:2369Malform.
Not applicable

Limb-mammary syndrome

ORPHA:69085Malform.
Autosomal dominant

Lipoid proteinosis

ORPHA:530Malform.
Autosomal recessive

Lissencephaly due to TUBA1A mutation

ORPHA:171680Malform.
Autosomal dominant, Not applicable

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Malform.
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Malform.
Autosomal recessive

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011Malform.

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012Malform.

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013Malform.

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014Malform.

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015Malform.

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016Malform.

Loeys-Dietz syndrome

ORPHA:60030Malform.
Autosomal dominant, Autosomal recessive

Lowe-Kohn-Cohen syndrome

ORPHA:2408Malform.

Lower limb malformation-hypospadias syndrome

ORPHA:2487Malform.

Lowry-MacLean syndrome

ORPHA:2409Malform.
Autosomal dominant

Lujan-Fryns syndrome

ORPHA:776Malform.
X-linked recessive

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Malform.