17q23.1q23.2 microdeletion syndrome
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(Orphanet:261279)
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Aase-Smith syndrome
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(Orphanet:916)
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CHROMOSOME 15q11.2 DELETION SYNDROME
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(OMIM:615656)
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CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
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(OMIM:218649)
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Cartilage-hair hypoplasia
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(Orphanet:175)
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Christianson syndrome
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(Orphanet:85278)
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Cleft palate - large ears - small head
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(Orphanet:2013)
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Ehlers-Danlos syndrome, vascular type
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(Orphanet:286)
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Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
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(Orphanet:1035)
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Galloway-Mowat syndrome
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(Orphanet:2065)
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Harlequin ichthyosis
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(Orphanet:457)
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Ichthyosis - oral and digital anomalies
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(Orphanet:2272)
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Intellectual deficit, X-linked - seizures - psoriasis
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(Orphanet:3052)
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LUJAN-FRYNS SYNDROME
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(OMIM:309520)
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Low birth weight - dwarfism - dysgammaglobulinemia
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(Orphanet:2621)
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Mandibulofacial dysostosis-microcephaly syndrome
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(Orphanet:79113)
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Micrencephaly - corpus callosum agenesis - abnormal genitalia
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(Orphanet:2508)
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Multiple epiphyseal dysplasia, Al-Gazali type
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(Orphanet:166024)
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Penoscrotal transposition
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(Orphanet:2842)
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SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
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(OMIM:609813)
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Spondyloepimetaphyseal dysplasia - abnormal dentition
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(Orphanet:168451)
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Wilson-Turner syndrome
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(Orphanet:3459)
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X-linked intellectual deficit - hypotonic face
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(Orphanet:73220)
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