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

Lethal neonatal spasticity-epileptic encephalopathy syndrome

ORPHA:435845Malf.
Autosomal recessive

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925Malf.
Autosomal recessive

Lethal omphalocele-cleft palate syndrome

ORPHA:2736Malf.
Autosomal recessive

Lethal polymalformative syndrome, Boissel type

ORPHA:210144Malf.
Autosomal recessive

Lethal recessive chondrodysplasia

ORPHA:1423Malf.
Autosomal recessive

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

ORPHA:1816Malf.
Autosomal recessive

Limb body wall complex

ORPHA:2369Malf.
Not applicable

Limb-mammary syndrome

ORPHA:69085Malf.
Autosomal dominant

Lipoid proteinosis

ORPHA:530Malf.
Autosomal recessive

Lissencephaly due to TUBA1A mutation

ORPHA:171680Malf.
Autosomal dominant, Not applicable

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Malf.
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Malf.
Autosomal recessive

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011Malf.

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012Malf.

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013Malf.

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014Malf.

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015Malf.

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016Malf.

Loeys-Dietz syndrome

ORPHA:60030Malf.
Autosomal dominant, Autosomal recessive

Lowe-Kohn-Cohen syndrome

ORPHA:2408Malf.

Lower limb malformation-hypospadias syndrome

ORPHA:2487Malf.

Lowry-MacLean syndrome

ORPHA:2409Malf.
Autosomal dominant

Lujan-Fryns syndrome

ORPHA:776Malf.
X-linked recessive

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Malf.