1p36 deletion syndrome
|
(Orphanet:1606)
|
3C syndrome
|
(Orphanet:7)
|
8p11.2 deletion syndrome
|
(Orphanet:251066)
|
Acro-pectoro-renal dysplasia
|
(Orphanet:956)
|
Acro-renal-mandibular syndrome
|
(Orphanet:958)
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Aicardi syndrome
|
(Orphanet:50)
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Anophthalmia/microphthalmia - esophageal atresia
|
(Orphanet:77298)
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Arachnodactyly - abnormal ossification - intellectual deficit
|
(Orphanet:1129)
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Auriculoocular anomalies - cleft lip
|
(Orphanet:71270)
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Autosomal dominant spondylocostal dysostosis
|
(Orphanet:1797)
|
Autosomal recessive Robinow syndrome
|
(Orphanet:1507)
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Autosomal recessive spondylocostal dysostosis
|
(Orphanet:2311)
|
Axial mesodermal dysplasia spectrum
|
(Orphanet:1834)
|
Becker nevus syndrome
|
(Orphanet:64755)
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Braddock syndrome
|
(Orphanet:52047)
|
CHARGE syndrome
|
(Orphanet:138)
|
Campomelia, Cumming type
|
(Orphanet:1318)
|
Campomelic dysplasia
|
(Orphanet:140)
|
Caudal regression sequence
|
(Orphanet:3027)
|
Cerebro-facio-thoracic dysplasia
|
(Orphanet:1394)
|
Cooper-Jabs syndrome
|
(Orphanet:1488)
|
Craniosynostosis, Herrmann-Opitz type
|
(Orphanet:2145)
|
Diaphanospondylodysostosis
|
(Orphanet:66637)
|
Embryonary disorganization syndrome
|
(Orphanet:1664)
|
Familial osteodysplasia, Anderson type
|
(Orphanet:2769)
|
Femoral-facial syndrome
|
(Orphanet:1988)
|
Growth delay - hydrocephaly - lung hypoplasia
|
(Orphanet:3035)
|
Holoprosencephaly - radial heart renal anomalies
|
(Orphanet:3186)
|
Holzgreve-Wagner-Rehder syndrome
|
(Orphanet:2167)
|
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency
|
(Orphanet:2435)
|
Imperforate oropharynx - costo vetebral anomalies
|
(Orphanet:2759)
|
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
|
(Orphanet:2958)
|
Jacobsen syndrome
|
(Orphanet:2308)
|
Juberg-Hayward syndrome
|
(Orphanet:2319)
|
Kozlowski-Brown-Hardwick syndrome
|
(Orphanet:2352)
|
Kyphomelic dysplasia
|
(Orphanet:1801)
|
LEOPARD SYNDROME 1
|
(OMIM:151100)
|
Lethal chondrodysplasia, Moerman type
|
(Orphanet:1420)
|
Lung agenesis - heart defect - thumb anomalies
|
(Orphanet:1120)
|
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies
|
(Orphanet:2234)
|
Melhem-Fahl syndrome
|
(Orphanet:2482)
|
Mesomelic dysplasia, Kantaputra type
|
(Orphanet:1836)
|
Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
|
Microcephaly - seizures - intellectual deficit - heart disease
|
(Orphanet:2519)
|
Microlissencephaly - micromelia
|
(Orphanet:50810)
|
Mosaic trisomy 9
|
(Orphanet:99776)
|
Noonan syndrome with multiple lentigines
|
(Orphanet:500)
|
Oculocerebrocutaneous syndrome
|
(Orphanet:1647)
|
Proximal spinal muscular atrophy
|
(Orphanet:70)
|
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
(OMIM:613686)
|
Short stature - heart defect - craniofacial anomalies
|
(Orphanet:1088)
|
Shprintzen-Goldberg syndrome
|
(Orphanet:2462)
|
Spondylocostal dysostosis - anal and genitourinary malformations
|
(Orphanet:94095)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
Synostosis - microcephaly - scoliosis
|
(Orphanet:3268)
|
Tetraamelia - multiple malformations
|
(Orphanet:3301)
|
Thoraco-abdominal enteric duplication
|
(Orphanet:1759)
|
Thrombocytopenia - absent radius
|
(Orphanet:3320)
|
Toriello-Carey syndrome
|
(Orphanet:3338)
|
Trisomy 1q
|
(Orphanet:261344)
|
White forelock with malformations
|
(Orphanet:2475)
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|