MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Malf.
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Malf.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Malf.
X-linked dominant

Syndromic X-linked intellectual disability 7

ORPHA:85274Malf.
X-linked recessive

Syndromic microphthalmia type 5

ORPHA:178364Malf.
Autosomal dominant

Syndromic orbital border hypoplasia

ORPHA:98606Malf.

Syngnathia-cleft palate syndrome

ORPHA:3263Malf.

TARP syndrome

ORPHA:2886Malf.
X-linked recessive

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

ORPHA:488632Malf.
Autosomal recessive

TELO2-related intellectual disability-neurodevelopmental disorder

ORPHA:488642Malf.
Autosomal recessive

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

ORPHA:363444Malf.
Autosomal recessive

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

ORPHA:562569Malf.
Autosomal recessive

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

ORPHA:592570Malf.
Autosomal dominant

Takenouchi-Kosaki syndrome

ORPHA:487796Malf.
Autosomal dominant

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Malf.
Autosomal recessive

Talo-patello-scaphoid osteolysis

ORPHA:50809Malf.
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Malf.
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Malf.
Autosomal dominant

Teebi-Shaltout syndrome

ORPHA:3291Malf.
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Malf.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Malf.
Unknown

Temple syndrome

ORPHA:254516Malf.
Autosomal dominant, Not applicable

Temtamy preaxial brachydactyly syndrome

ORPHA:363417Malf.
Autosomal recessive

Temtamy syndrome

ORPHA:1777Malf.
Autosomal recessive