2q31.1 microdeletion syndrome
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(Orphanet:251014)
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8q22.1 microdeletion syndrome
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(Orphanet:178303)
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ADAMS-OLIVER SYNDROME 2
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(OMIM:614219)
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Acrofacial dysostosis, Palagonia type
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(Orphanet:1787)
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Acroosteolysis, dominant type
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(Orphanet:955)
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Alpha-mannosidosis
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(Orphanet:61)
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Autosomal recessive spastic paraplegia type 49
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(Orphanet:320385)
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Blepharophimosis-intellectual deficit syndrome, Verloes type
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(Orphanet:293725)
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Bohring-Opitz syndrome
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(Orphanet:97297)
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CORNELIA DE LANGE SYNDROME 2
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(OMIM:300590)
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CORNELIA DE LANGE SYNDROME 5
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(OMIM:300882)
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Cataract-congenital heart disease-neural tube defect syndrome
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(Orphanet:314993)
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Cerebro-facio-thoracic dysplasia
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(Orphanet:1394)
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Cohen syndrome
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(Orphanet:193)
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Congenital lactic acidosis, Saguenay-Lac-St. Jean type
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(Orphanet:70472)
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Cornelia de Lange syndrome
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(Orphanet:199)
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Corpus callosum agenesis - neuronopathy
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(Orphanet:1496)
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Deafness - onychodystrophy
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(Orphanet:3231)
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Dubowitz syndrome
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(Orphanet:235)
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Dysmorphism - conductive hearing loss - heart defect
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(Orphanet:289553)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
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(OMIM:615859)
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Gorlin-Chaudhry-Moss syndrome
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(Orphanet:2095)
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HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES
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(OMIM:609943)
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Hypertrichotic osteochondrodysplasia, Cantu type
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(Orphanet:1517)
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Intellectual deficit - sparse hair - brachydactyly
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(Orphanet:3051)
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Isolated plagiocephaly
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(Orphanet:35098)
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KBG syndrome
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(Orphanet:2332)
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LIG4 syndrome
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(Orphanet:99812)
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
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(OMIM:615009)
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Megalocornea-intellectual deficit syndrome
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(Orphanet:2479)
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Micrencephaly - corpus callosum agenesis - abnormal genitalia
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(Orphanet:2508)
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Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
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(Orphanet:217026)
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Monosomy 18q
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(Orphanet:1600)
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Mucopolysaccharidosis type 1
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(Orphanet:579)
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Muenke syndrome
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(Orphanet:53271)
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Nijmegen breakage syndrome
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(Orphanet:647)
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Pachygyria - epilepsy - intellectual deficit - dysmorphism
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(Orphanet:94084)
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Prolidase deficiency
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(Orphanet:742)
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Prominent glabella - microcephaly - hypogenitalism
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(Orphanet:2083)
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Rubinstein-Taybi syndrome due to CREBBP mutations
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(Orphanet:353277)
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SCARF syndrome
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(Orphanet:3134)
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Saethre-Chotzen syndrome
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(Orphanet:794)
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Schwartz-Jampel syndrome
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(Orphanet:800)
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Spondyloepimetaphyseal dysplasia, Bieganski type
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(Orphanet:168448)
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Spondyloepimetaphyseal dysplasia, Geneviève type
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(Orphanet:168454)
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Treacher-Collins syndrome
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(Orphanet:861)
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Trisomy 20p
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(Orphanet:261318)
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Trisomy 4p
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(Orphanet:1738)
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Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
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(Orphanet:3201)
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WARBURG MICRO SYNDROME 2
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(OMIM:614225)
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WARBURG MICRO SYNDROME 3
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(OMIM:614222)
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WARBURG MICRO SYNDROME 4
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(OMIM:615663)
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