Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
Lennox-Gastaut syndrome
Autosomal dominant, Multigenic/multifactorial, Not applicable
Childhood, Infancy
Lenz-Majewski hyperostotic dysplasia
Autosomal dominant
Antenatal, Infancy, Neonatal
Leprosy
Multigenic/multifactorial
All ages
Leptospirosis
Not applicable
All ages
Leri pleonosteosis
Autosomal dominant
Infancy, Neonatal
Lesch-Nyhan syndrome
X-linked recessive
Infancy
Lethal Kniest-like dysplasia
Autosomal recessive
Neonatal
Lethal Larsen-like syndrome
Autosomal recessive
Neonatal
Lethal acantholytic erosive disorder
Autosomal recessive
Antenatal, Neonatal
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Autosomal recessive
Infancy, Neonatal
Lethal ataxia with deafness and optic atrophy
X-linked recessive
Infancy, Neonatal
Lethal brain and heart developmental defects
Autosomal recessive
Antenatal
Lethal congenital contracture syndrome type 1
Autosomal recessive
Antenatal, Neonatal
Lethal congenital contracture syndrome type 2
Autosomal recessive
Antenatal, Neonatal
Lethal congenital contracture syndrome type 3
Autosomal recessive
Antenatal, Neonatal
Lethal faciocardiomelic dysplasia
Autosomal recessive
Neonatal
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Autosomal recessive
Antenatal
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Autosomal recessive
Antenatal
Lethal hemolytic anemia-genital anomalies syndrome
Unknown
Neonatal
Lethal hydranencephaly-diaphragmatic hernia syndrome
Autosomal recessive
Neonatal
Lethal infantile mitochondrial myopathy
Mitochondrial inheritance
Infancy, Neonatal
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
X-linked recessive
Antenatal
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Autosomal recessive
Infancy
Lethal multiple pterygium syndrome
Autosomal recessive, X-linked recessive
Antenatal