Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Luscan-Lumish syndrome
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
Lymphedema-atrial septal defects-facial changes syndrome
Autosomal recessive
Infancy, Neonatal
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Adolescent
Lymphedema-distichiasis syndrome
Autosomal dominant
All ages
Lymphedema-posterior choanal atresia syndrome
Autosomal recessive
Neonatal
Léri-Weill dyschondrosteosis
Autosomal dominant
Adolescent, Antenatal, Childhood, Infancy, Neonatal
MEHMO syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
MEND syndrome
X-linked recessive
Infancy, Neonatal
MEPAN syndrome
Autosomal recessive
Childhood, Infancy
MIR140-related spondyloepiphyseal dysplasia
MMEP syndrome
Antenatal, Neonatal
MOMO syndrome
Autosomal recessive
Infancy, Neonatal
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Neonatal
Macrocephaly-developmental delay syndrome
Autosomal recessive
Neonatal
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
X-linked recessive
Infancy
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Autosomal dominant
Infancy, Neonatal
Macrocephaly-short stature-paraplegia syndrome
Unknown
Adult
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Autosomal recessive
Childhood
Macrocystic lymphatic malformation
Not applicable
Infancy, Neonatal
Macrosomia-microphthalmia-cleft palate syndrome
Antenatal, Neonatal
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Autosomal dominant
Infancy, Neonatal
Macular coloboma-cleft palate-hallux valgus syndrome
Autosomal recessive
Neonatal
Malan overgrowth syndrome
Autosomal dominant, Unknown
Infancy
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Unknown
Neonatal