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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Lethal neonatal spasticity-epileptic encephalopathy syndrome

ORPHA:435845Мальф.
Autosomal recessive

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925Мальф.
Autosomal recessive

Lethal omphalocele-cleft palate syndrome

ORPHA:2736Мальф.
Autosomal recessive

Lethal polymalformative syndrome, Boissel type

ORPHA:210144Мальф.
Autosomal recessive

Lethal recessive chondrodysplasia

ORPHA:1423Мальф.
Autosomal recessive

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

ORPHA:1816Мальф.
Autosomal recessive

Limb body wall complex

ORPHA:2369Мальф.
Not applicable

Limb-mammary syndrome

ORPHA:69085Мальф.
Autosomal dominant

Lipoid proteinosis

ORPHA:530Мальф.
Autosomal recessive

Lissencephaly due to TUBA1A mutation

ORPHA:171680Мальф.
Autosomal dominant, Not applicable

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Мальф.
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Мальф.
Autosomal recessive

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011Мальф.

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012Мальф.

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013Мальф.

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014Мальф.

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015Мальф.

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016Мальф.

Loeys-Dietz syndrome

ORPHA:60030Мальф.
Autosomal dominant, Autosomal recessive

Lowe-Kohn-Cohen syndrome

ORPHA:2408Мальф.

Lower limb malformation-hypospadias syndrome

ORPHA:2487Мальф.

Lowry-MacLean syndrome

ORPHA:2409Мальф.
Autosomal dominant

Lujan-Fryns syndrome

ORPHA:776Мальф.
X-linked recessive

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Мальф.