Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Unknown
Neonatal
Syndactyly-polydactyly-ear lobe syndrome
Neonatal
Syndactyly-telecanthus-anogenital and renal malformations syndrome
X-linked dominant
Infancy, Neonatal
Syndromic X-linked intellectual disability 7
X-linked recessive
No data available
Syndromic microphthalmia type 5
Autosomal dominant
Antenatal, Neonatal
Syndromic orbital border hypoplasia
Neonatal
Syngnathia-cleft palate syndrome
Antenatal, Neonatal
TARP syndrome
X-linked recessive
Antenatal, Neonatal
TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
Autosomal recessive
Infancy, Neonatal
TELO2-related intellectual disability-neurodevelopmental disorder
Autosomal recessive
Neonatal
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Autosomal recessive
Infancy, Neonatal
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Autosomal recessive
Antenatal, Neonatal
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Autosomal dominant
Antenatal, Neonatal
Takenouchi-Kosaki syndrome
Autosomal dominant
Neonatal
Tall stature-intellectual disability-renal anomalies syndrome
Autosomal recessive
Antenatal, Neonatal
Talo-patello-scaphoid osteolysis
Autosomal recessive
Childhood
Tarsal-carpal coalition syndrome
Autosomal dominant
Neonatal
Tatton-Brown-Rahman syndrome
Autosomal dominant
Neonatal
Teebi-Shaltout syndrome
Autosomal recessive
Infancy, Neonatal
Tel Hashomer camptodactyly syndrome
Unknown
Infancy, Neonatal
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Unknown
Neonatal
Temple syndrome
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Temtamy preaxial brachydactyly syndrome
Autosomal recessive
Infancy, Neonatal
Temtamy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal