14q22q23 microdeletion syndrome
|
(Orphanet:264200)
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
46,XX ovotesticular disorder of sex development
|
(Orphanet:2138)
|
46,XX testicular disorder of sex development
|
(Orphanet:393)
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
|
(Orphanet:753)
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48,XXXY syndrome
|
(Orphanet:96263)
|
49,XXXXY syndrome
|
(Orphanet:96264)
|
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
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(OMIM:201750)
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Arthrogryposis multiplex congenita
|
(Orphanet:1037)
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Autosomal dominant omodysplasia
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(Orphanet:93328)
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Autosomal dominant popliteal pterygium syndrome
|
(Orphanet:1300)
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Autosomal recessive amelia
|
(Orphanet:1027)
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Autosomal recessive multiple pterygium syndrome
|
(Orphanet:2990)
|
Blepharophimosis-intellectual deficit syndrome, MKB type
|
(Orphanet:293707)
|
Blepharophimosis-intellectual deficit syndrome, Ohdo type
|
(Orphanet:2728)
|
Borjeson-Forssman-Lehmann syndrome
|
(Orphanet:127)
|
CEREBROOCULOFACIOSKELETAL SYNDROME 2
|
(OMIM:610756)
|
Carpenter-Waziri syndrome
|
(Orphanet:93973)
|
Chudley-Lowry-Hoar syndrome
|
(Orphanet:93971)
|
Disorder of sex development - intellectual deficit
|
(Orphanet:2983)
|
Distal monosomy 10q
|
(Orphanet:96148)
|
Endocrine-cerebro-osteodysplasia syndrome
|
(Orphanet:199332)
|
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
|
(Orphanet:1970)
|
Fine-Lubinsky syndrome
|
(Orphanet:1272)
|
Flat face - microstomia - ear anomaly
|
(Orphanet:1968)
|
Fraser syndrome
|
(Orphanet:2052)
|
Frontonasal dysplasia with alopecia and genital anomaly
|
(Orphanet:228390)
|
Genitopatellar syndrome
|
(Orphanet:85201)
|
Holmes-Gang syndrome
|
(Orphanet:93970)
|
Juberg-Marsidi syndrome
|
(Orphanet:93972)
|
Laurence-Moon syndrome
|
(Orphanet:2377)
|
MEIER-GORLIN SYNDROME 3
|
(OMIM:613803)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13
|
(OMIM:615287)
|
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies
|
(Orphanet:2234)
|
Malignant hyperthermia - arthrogryposis - torticollis
|
(Orphanet:2215)
|
Phocomelia, Schinzel type
|
(Orphanet:2879)
|
Prader-Willi syndrome
|
(Orphanet:739)
|
Prominent glabella - microcephaly - hypogenitalism
|
(Orphanet:2083)
|
Recombinant 8 syndrome
|
(Orphanet:96167)
|
Renier-Gabreels-Jasper syndrome
|
(Orphanet:93975)
|
STT3B-CDG
|
(Orphanet:370924)
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
Smith-Fineman-Myers syndrome
|
(Orphanet:93974)
|
Smith-Lemli-Opitz syndrome
|
(Orphanet:818)
|
Sudden infant death - dysgenesis of the testes
|
(Orphanet:168593)
|
Tel Hashomer camptodactyly syndrome
|
(Orphanet:3292)
|
Treacher-Collins syndrome
|
(Orphanet:861)
|
Trisomy 1q
|
(Orphanet:261344)
|
WARBURG MICRO SYNDROME 2
|
(OMIM:614225)
|
WARBURG MICRO SYNDROME 3
|
(OMIM:614222)
|
WARBURG MICRO SYNDROME 4
|
(OMIM:615663)
|
X-linked intellectual deficit - cerebellar hypoplasia
|
(Orphanet:137831)
|
X-linked intellectual deficit - hypotonic face
|
(Orphanet:73220)
|
Zlotogora-Ogur syndrome
|
(Orphanet:3253)
|