Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Linear focal elastosis
Not applicable
All ages
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Not applicable
No data available
Linear lichen planus
All ages
Linear nevus sebaceus syndrome
Not applicable
Childhood, Infancy, Neonatal
Linear verrucous nevus syndrome
Neonatal
Lipoblastoma
Not applicable
Childhood
Lipodystrophy due to peptidic growth factors deficiency
Unknown
Neonatal
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
Autosomal recessive
Lipodystrophy-intellectual disability-deafness syndrome
Autosomal recessive
Childhood
Lipoic acid biosynthesis defect
Autosomal recessive
Childhood, Neonatal
Lipoic acid synthetase deficiency
Autosomal recessive
Neonatal
Lipoid proteinosis
Autosomal recessive
All ages
Lipoprotein glomerulopathy
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Liposarcoma
Unknown
All ages
Lipoyl transferase 1 deficiency
Autosomal recessive
Infancy, Neonatal
Lipoyl transferase 2 deficiency
No data available
No data available
Lisch epithelial corneal dystrophy
X-linked dominant
Childhood
Lissencephaly
Infancy, Neonatal
Lissencephaly due to LIS1 mutation
Autosomal dominant
Antenatal, Infancy, Neonatal
Lissencephaly due to TUBA1A mutation
Autosomal dominant, Not applicable
Antenatal, Neonatal
Lissencephaly syndrome, Norman-Roberts type
Autosomal recessive
Infancy, Neonatal
Lissencephaly type 1 due to doublecortin gene mutation
X-linked recessive
Adolescent, Childhood, Infancy, Neonatal
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Autosomal recessive
Antenatal
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Autosomal recessive
Antenatal, Neonatal