Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Microlissencephaly-micromelia syndrome
Autosomal recessive
Infancy, Neonatal
Microphthalmia with brain and digit anomalies
Autosomal dominant
Antenatal
Microphthalmia with limb anomalies
Autosomal recessive
Antenatal, Neonatal
Microphthalmia with linear skin defects syndrome
X-linked dominant
Neonatal
Microphthalmia, Lenz type
X-linked recessive
Neonatal
Microphthalmia-ankyloblepharon-intellectual disability syndrome
X-linked recessive
Infancy, Neonatal
Microphthalmia-brain atrophy syndrome
Autosomal recessive
Neonatal
Microphthalmia-microtia-fetal akinesia syndrome
Antenatal, Neonatal
Microspherophakia-metaphyseal dysplasia syndrome
Autosomal dominant
Infancy, Neonatal
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Autosomal dominant
No data available
Microtriplication 11q24.1 syndrome
Childhood
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
X-linked recessive
Mietens syndrome
Autosomal recessive
Infancy, Neonatal
Mikati-Najjar-Sahli syndrome
Autosomal recessive
Infancy, Neonatal
Miller-Dieker syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Antenatal, Infancy, Neonatal
Mitochondrial DNA-related cardiomyopathy and hearing loss
Mitochondrial inheritance
Adult, Childhood
Mixed cystic lymphatic malformation
Not applicable
Infancy, Neonatal
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Not applicable
Infancy, Neonatal
Mononen-Karnes-Senac syndrome
X-linked dominant
Infancy, Neonatal
Monosomy 13q14 syndrome
Not applicable
Infancy, Neonatal
Monosomy 13q34 syndrome
Not applicable
Antenatal, Neonatal
Monosomy 18q syndrome
Autosomal dominant
Antenatal, Neonatal
Monosomy 22 syndrome
Neonatal