Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mesomelic dysplasia, Nievergelt type
Autosomal dominant
Antenatal, Neonatal
Mesomelic dysplasia, Savarirayan type
Not applicable
Infancy, Neonatal
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Infancy, Neonatal
Metachondromatosis
Autosomal dominant
Childhood
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Autosomal recessive
Infancy, Neonatal
Metaphyseal dysplasia, Braun-Tinschert type
Infancy, Neonatal
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Autosomal dominant
Infancy, Neonatal
Methimazole embryofetopathy
Not applicable
Antenatal, Neonatal
Micro syndrome
Autosomal recessive
Childhood
Microbrachycephaly-ptosis-cleft lip syndrome
Autosomal recessive
Infancy, Neonatal
Microcephalic cortical malformations-short stature due to RTTN deficiency
Autosomal recessive
Infancy, Neonatal
Microcephalic osteodysplastic primordial dwarfism type II
Autosomal recessive
Antenatal, Infancy, Neonatal
Microcephalic osteodysplastic primordial dwarfism types I and III
Autosomal recessive
Antenatal, Infancy, Neonatal
Microcephalic primordial dwarfism due to ZNF335 deficiency
Autosomal recessive
Antenatal, Neonatal
Microcephalic primordial dwarfism, Dauber type
Autosomal recessive
Antenatal, Neonatal
Microcephalic primordial dwarfism, Montreal type
Infancy, Neonatal
Microcephalic primordial dwarfism, Toriello type
Antenatal, Neonatal
Microcephalic primordial dwarfism-insulin resistance syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Microcephaly-albinism-digital anomalies syndrome
Unknown
Infancy, Neonatal
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Autosomal recessive
Infancy, Neonatal
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Neonatal
Microcephaly-capillary malformation syndrome
Autosomal recessive
Infancy, Neonatal
Microcephaly-cardiac defect-lung malsegmentation syndrome
Autosomal recessive
Infancy, Neonatal
Microcephaly-cardiomyopathy syndrome
Autosomal recessive
Infancy, Neonatal