Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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-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-polymicrogyria-corpus callosum agenesis syndrome
Autosomal recessive
Antenatal, Neonatal
Microcephaly-seizures-intellectual disability-heart disease syndrome
Unknown
Infancy, Neonatal
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Autosomal recessive
Infancy, Neonatal
Microcornea-glaucoma-absent frontal sinuses syndrome
Childhood, Infancy, Neonatal
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Unknown
Infancy, Neonatal
Microcystic lymphatic malformation
Not applicable
Infancy, Neonatal
Microduplication Xp11.22p11.23 syndrome
Not applicable, X-linked dominant
Infancy, Neonatal
Microform holoprosencephaly
Multigenic/multifactorial
Childhood, Infancy, Neonatal
Microgastria-limb reduction defect syndrome
Not applicable
Infancy, Neonatal
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Autosomal dominant
Neonatal