15q24 microdeletion syndrome
|
(Orphanet:94065)
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17q11 microdeletion syndrome
|
(Orphanet:97685)
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17q11.2 microduplication syndrome
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(Orphanet:139474)
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17q12 microdeletion syndrome
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(Orphanet:261265)
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48,XXYY syndrome
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(Orphanet:10)
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Acro-renal-ocular syndrome
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(Orphanet:959)
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Aicardi syndrome
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(Orphanet:50)
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Arthrogryposis multiplex congenita
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(Orphanet:1037)
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Beckwith-Wiedemann syndrome due to 11p15 microdeletion
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(Orphanet:231127)
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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
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(Orphanet:231117)
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Bencze syndrome
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(Orphanet:1241)
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CHARGE syndrome
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(Orphanet:138)
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CLOVE syndrome
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(Orphanet:140944)
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Cardiodysrhythmic potassium-sensitive periodic paralysis
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(Orphanet:37553)
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Corpus callosum agenesis - neuronopathy
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(Orphanet:1496)
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Craniofrontonasal dysplasia
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(Orphanet:1520)
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Curry-Jones syndrome
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(Orphanet:1553)
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Deafness-craniofacial syndrome
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(Orphanet:3241)
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Delayed speech - facial asymmetry - strabismus - ear lobe creases
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(Orphanet:3038)
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Distal monosomy 10q
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(Orphanet:96148)
|
Dubowitz syndrome
|
(Orphanet:235)
|
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
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(OMIM:130090)
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Ehlers-Danlos syndrome, musculocontractural type
|
(Orphanet:2953)
|
Emanuel syndrome
|
(Orphanet:96170)
|
FEINGOLD SYNDROME 1
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(OMIM:164280)
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Feingold syndrome
|
(Orphanet:1305)
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Fibrous dysplasia of bone
|
(Orphanet:249)
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Focal dermal hypoplasia
|
(Orphanet:2092)
|
Goldenhar syndrome
|
(Orphanet:374)
|
Gordon syndrome
|
(Orphanet:376)
|
Hemifacial hypertrophy
|
(Orphanet:141145)
|
Intellectual deficit, X-linked, Snyder type
|
(Orphanet:3063)
|
Isolated Klippel-Feil syndrome
|
(Orphanet:2345)
|
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
|
(OMIM:118100)
|
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
|
(OMIM:251800)
|
MOVED TO 210600
|
(OMIM:608664)
|
MURCS association
|
(Orphanet:2578)
|
McCune-Albright syndrome
|
(Orphanet:562)
|
Microcephaly - deafness - intellectual deficit
|
(Orphanet:2533)
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Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Monosomy 5p
|
(Orphanet:281)
|
Neuralgic amyotrophy
|
(Orphanet:2901)
|
Neuroectodermal syndrome, Johnson type
|
(Orphanet:2316)
|
OSTEOGENESIS IMPERFECTA, TYPE XII
|
(OMIM:613849)
|
Oculoauriculovertebral spectrum with radial defects
|
(Orphanet:2549)
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Oculocerebrocutaneous syndrome
|
(Orphanet:1647)
|
Okihiro syndrome
|
(Orphanet:93293)
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
|
Polyostotic fibrous dysplasia
|
(Orphanet:93276)
|
SECKEL SYNDROME 1
|
(OMIM:210600)
|
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
|
(OMIM:614800)
|
Saethre-Chotzen syndrome
|
(Orphanet:794)
|
Seckel syndrome
|
(Orphanet:808)
|
TORTICOLLIS
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(OMIM:189600)
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Torticollis - keloids - cryptorchidism - renal dysplasia
|
(Orphanet:3341)
|
Trismus - pseudocamptodactyly
|
(Orphanet:3377)
|
Wildervanck syndrome
|
(Orphanet:3456)
|