Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
Autosomal dominant
Infancy, Neonatal
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
Autosomal dominant
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Autosomal dominant
Infancy, Neonatal
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Unknown
Infancy, Neonatal
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Neonatal
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
Autosomal dominant
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
Autosomal dominant
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive
Infancy, Neonatal
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Autosomal recessive
Neonatal
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
Autosomal recessive
Intellectual disability-polydactyly-uncombable hair syndrome
Neonatal
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Autosomal dominant
Infancy
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Autosomal recessive
Infancy, Neonatal
Intellectual disability-seizures-macrocephaly-obesity syndrome
Not applicable, Unknown
Infancy, Neonatal
Intellectual disability-short stature-hypertelorism syndrome
Childhood
Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome
X-linked dominant
Intellectual disability-spasticity-ectrodactyly syndrome
Infancy, Neonatal
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Autosomal dominant
Intellectual disability-strabismus syndrome
Autosomal recessive
Infancy, Neonatal
Interatrial communication
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood, Elderly
Interdigitating dendritic cell sarcoma
Adult
Intermediate DEND syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Intermediate collagen VI-related muscular dystrophy
Autosomal dominant, Autosomal recessive
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Autosomal dominant
Neonatal