Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Autosomal recessive
Infancy, Neonatal
Microcephaly-cervical spine fusion anomalies syndrome
Autosomal recessive
Antenatal, Neonatal
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Unknown
Infancy, Neonatal
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Autosomal recessive
Infancy
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Autosomal dominant
Childhood, Infancy
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Autosomal dominant
Infancy, Neonatal
Microcephaly-deafness-intellectual disability syndrome
Infancy, Neonatal
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Autosomal dominant
Infancy, Neonatal
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Unknown
Infancy, Neonatal
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Autosomal recessive
Neonatal
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Infancy
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Autosomal recessive
Infancy, Neonatal
Microcephaly-lymphedema-chorioretinopathy syndrome
Autosomal dominant
Neonatal
Microcephaly-microcornea syndrome, Seemanova type
Infancy, Neonatal
Microcephaly-micromelia syndrome
Autosomal recessive
Antenatal
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Autosomal recessive
Antenatal, Neonatal
Microcephaly-seizures-intellectual disability-heart disease syndrome
Unknown
Infancy, Neonatal