Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Infantile CLN2 disease
Autosomal recessive
Infantile Krabbe disease
Autosomal recessive
Infancy
Infantile LAD-like disease due to RAC2 deficiency
Autosomal dominant
Infancy, Neonatal
Infantile Refsum disease
Autosomal recessive
All ages
Infantile apnea
Infancy, Neonatal
Infantile bilateral striatal necrosis
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable
All ages
Infantile cerebellar-retinal degeneration
Autosomal recessive
Infancy, Neonatal
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Autosomal recessive
Infancy
Infantile choroidocerebral calcification syndrome
Autosomal recessive
Infancy, Neonatal
Infantile digital fibromatosis
Childhood, Infancy, Neonatal
Infantile dystonia-parkinsonism
Autosomal recessive
Infancy, Neonatal
Infantile epileptic spasms syndrome
Autosomal dominant, Autosomal recessive, X-linked dominant
Infantile epileptic-dyskinetic encephalopathy
X-linked recessive
Infancy, Neonatal
Infantile glycine encephalopathy
Autosomal recessive
Infancy, Neonatal
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Autosomal recessive
Infancy, Neonatal
Infantile hypophosphatasia
Autosomal recessive
Infancy, Neonatal
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Autosomal dominant
Infancy
Infantile inflammatory bowel disease with neurological involvement
Autosomal recessive
Infancy
Infantile mercury poisoning
Not applicable
Infancy
Infantile multisystem neurologic-endocrine-pancreatic disease
Autosomal recessive
Infancy
Infantile myofibromatosis
Autosomal dominant, Autosomal recessive, Not applicable
Antenatal, Infancy, Neonatal
Infantile nephronophthisis
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Infantile nephropathic cystinosis
Autosomal recessive
Infancy
Infantile neuroaxonal dystrophy
Autosomal recessive
Infancy, Neonatal