| Syndrome | Synonym | Genes | |
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Apert syndrome
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Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.
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FGFR2
| Show details |
|
Beckwith-Wiedemann syndrome
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BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS
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H19, LIT1/KCNQ1OT1, NSD1, p57/kip2/CDKN1C
| Show details |
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Congenital Hypothalamic Hamartoma syndrome
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CHHS
|
| Show details |
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Giant Diencephalic Hamartoma and Associated Anomalies
|
|
| Show details |
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Greig Cephalopolysyndactyly
|
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GLI3
| Show details |
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Holoprosencephaly-Diencephalic Hamartoblastoma association
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HDH
|
| Show details |
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Inherited Epidermolysis Bullosa
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incl. EB Simplex (EBS), Junctional EB (JEB), Dystophic EB (DEB, Recessive DEB, RDEB, Hallopeau-Siemens, dominant DEB, DDEB) and subtypes
|
| Show details |
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Langer-Giedion syndrome
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Trichorhinophalangeal syndrome type 2, TRPS II
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EXT1, TRPS1
| Show details |
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Macrocephaly-Cutis Marmorata syndrome
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Megalencephaly-Cutis Marmorata Telangiectatica Congenita, M-CMTC, Macrocephaly-Capillary malformation, M-CM
|
| Show details |
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Marshall-Smith syndrome
|
|
| Show details |
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Megalencephaly
|
|
| Show details |
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Miller-Dieker syndrome
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MDS, Miller-Dieker Lissencephaly syndrome, MLDS
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cgd (17p13.3)
| Show details |
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Opitz Trigonocephaly syndrome
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C syndrome, Trigonocephaly syndrome
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CD96
| Show details |
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Pallister-Hall syndrome
|
|
GLI3
| Show details |
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Proteus syndrome
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Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.
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ATK1, PTEN
| Show details |
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Rubinstein-Taybi syndrome
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Broad Thumb-Hallux syndrome
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CBP/CREBBP, EP300
| Show details |
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Saethre-Chotzen syndrome
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Acrocephalosyndactyly type III
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FGFR2, FGFR3, TWIST/TWIST1
| Show details |
|
SC Phocomelia syndrome
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SC-Pseudothalidomide s., incl.: Roberts s.
|
ESCO2
| Show details |