Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Autosomal recessive
Neonatal
Lethal occipital encephalocele-skeletal dysplasia syndrome
Autosomal recessive
Infancy, Neonatal
Lethal omphalocele-cleft palate syndrome
Autosomal recessive
Antenatal, Neonatal
Lethal polymalformative syndrome, Boissel type
Autosomal recessive
Infancy, Neonatal
Lethal recessive chondrodysplasia
Autosomal recessive
Infancy, Neonatal
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Autosomal recessive
Neonatal
Limb body wall complex
Not applicable
Antenatal, Infancy, Neonatal
Limb-mammary syndrome
Autosomal dominant
Antenatal, Neonatal
Lipoid proteinosis
Autosomal recessive
All ages
Lissencephaly due to TUBA1A mutation
Autosomal dominant, Not applicable
Antenatal, Neonatal
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Autosomal recessive
Antenatal
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Autosomal recessive
Antenatal, Neonatal
Lissencephaly with cerebellar hypoplasia type A
Antenatal, Neonatal
Lissencephaly with cerebellar hypoplasia type B
Antenatal, Infancy, Neonatal
Lissencephaly with cerebellar hypoplasia type C
Neonatal
Lissencephaly with cerebellar hypoplasia type D
Antenatal, Neonatal
Lissencephaly with cerebellar hypoplasia type E
Antenatal, Neonatal
Lissencephaly with cerebellar hypoplasia type F
Antenatal, Neonatal
Loeys-Dietz syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Lowe-Kohn-Cohen syndrome
Antenatal, Neonatal
Lower limb malformation-hypospadias syndrome
Neonatal
Lowry-MacLean syndrome
Autosomal dominant
Infancy, Neonatal
Lujan-Fryns syndrome
X-linked recessive
Infancy, Neonatal
Lung agenesis-heart defect-thumb anomalies syndrome
Antenatal