10q22.3q23.3 microduplication syndrome
|
(Orphanet:276422)
|
15q24 microdeletion syndrome
|
(Orphanet:94065)
|
16p11.2p12.2 microduplication syndrome
|
(Orphanet:261204)
|
19p13.12 microdeletion syndrome
|
(Orphanet:254346)
|
19q13.11 microdeletion syndrome
|
(Orphanet:217346)
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
1q21.1 microduplication syndrome
|
(Orphanet:250994)
|
1q44 microdeletion syndrome
|
(Orphanet:238769)
|
22q11.2 deletion syndrome
|
(Orphanet:567)
|
22q11.2 microduplication syndrome
|
(Orphanet:1727)
|
3C syndrome
|
(Orphanet:7)
|
3M syndrome
|
(Orphanet:2616)
|
3q29 microdeletion syndrome
|
(Orphanet:65286)
|
46,XX disorder of sex development - anorectal anomalies
|
(Orphanet:2973)
|
46,XX ovotesticular disorder of sex development
|
(Orphanet:2138)
|
46,XY SEX REVERSAL 6
|
(OMIM:613762)
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
|
(Orphanet:753)
|
46,XY partial gonadal dysgenesis
|
(Orphanet:251510)
|
8p23.1 microdeletion syndrome
|
(Orphanet:251071)
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
(OMIM:614613)
|
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
|
(OMIM:201750)
|
ANUS, IMPERFORATE
|
(OMIM:301800)
|
AXENFELD-RIEGER SYNDROME, TYPE 1
|
(OMIM:180500)
|
AXENFELD-RIEGER SYNDROME, TYPE 2
|
(OMIM:601499)
|
Abruzzo-Erickson syndrome
|
(Orphanet:921)
|
Acro-cardio-facial syndrome
|
(Orphanet:2008)
|
Acro-pectoro-renal dysplasia
|
(Orphanet:956)
|
Acrocallosal syndrome
|
(Orphanet:36)
|
Acrofacial dysostosis, Catania type
|
(Orphanet:1786)
|
Acroosteolysis, dominant type
|
(Orphanet:955)
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
|
(Orphanet:98791)
|
Ankyloblepharon - ectodermal defects - cleft lip/palate
|
(Orphanet:1071)
|
Anophthalmia/microphthalmia - esophageal atresia
|
(Orphanet:77298)
|
Antecubital pterygium syndrome
|
(Orphanet:2987)
|
Autosomal dominant Opitz G/BBB syndrome
|
(Orphanet:306588)
|
Autosomal dominant Robinow syndrome
|
(Orphanet:3107)
|
Autosomal dominant omodysplasia
|
(Orphanet:93328)
|
Autosomal recessive multiple pterygium syndrome
|
(Orphanet:2990)
|
Autosomal recessive spondylocostal dysostosis
|
(Orphanet:2311)
|
Axenfeld-Rieger syndrome
|
(Orphanet:782)
|
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
|
(OMIM:211200)
|
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
|
(OMIM:609945)
|
Bardet-Biedl syndrome 12
|
(OMIM:615989)
|
Beckwith-Wiedemann syndrome due to CDKN1C mutation
|
(Orphanet:231120)
|
Bladder exstrophy
|
(Orphanet:93930)
|
Blepharophimosis-intellectual deficit syndrome, Verloes type
|
(Orphanet:293725)
|
Brachydactyly - nystagmus - cerebellar ataxia
|
(Orphanet:1246)
|
Branchio-oculo-facial syndrome
|
(Orphanet:1297)
|
COFFIN-SIRIS SYNDROME
|
(OMIM:135900)
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
|
(OMIM:300934)
|
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
|
(OMIM:218649)
|
CREE MENTAL RETARDATION SYNDROME
|
(OMIM:606851)
|
Cabezas syndrome
|
(Orphanet:85293)
|
Cantrell pentalogy
|
(Orphanet:1335)
|
Carey-Fineman-Ziter syndrome
|
(Orphanet:1358)
|
Carpenter-Waziri syndrome
|
(Orphanet:93973)
|
Cataract - intellectual deficit - anal atresia - urinary defects
|
(Orphanet:1381)
|
Cerebro-facio-articular syndrome
|
(Orphanet:314679)
|
Chudley-Lowry-Hoar syndrome
|
(Orphanet:93971)
|
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
(Orphanet:90794)
|
Cleft palate - large ears - small head
|
(Orphanet:2013)
|
Coffin-Siris syndrome
|
(Orphanet:1465)
|
Congenital adrenal hyperplasia
|
(Orphanet:418)
|
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
|
(Orphanet:90791)
|
Congenital lipoid adrenal hyperplasia due to STAR deficency
|
(Orphanet:90790)
|
Congenital short bowel syndrome
|
(Orphanet:2301)
|
Cornelia de Lange syndrome
|
(Orphanet:199)
|
Craniofacial dyssynostosis
|
(Orphanet:1516)
|
Craniofrontonasal dysplasia
|
(Orphanet:1520)
|
Craniosynostosis - anal anomalies - porokeratosis
|
(Orphanet:85199)
|
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis
|
(Orphanet:171839)
|
Cryptorchidism - arachnodactyly - intellectual deficit
|
(Orphanet:1548)
|
Currarino triad
|
(Orphanet:1552)
|
Cutis marmorata telangiectatica congenita
|
(Orphanet:1556)
|
Cystic fibrosis - gastritis - megaloblastic anemia
|
(Orphanet:2575)
|
DIAMOND-BLACKFAN ANEMIA 5
|
(OMIM:612528)
|
Deafness - genital anomalies - metacarpal and metatarsal synostosis
|
(Orphanet:3224)
|
Diabetic embryopathy
|
(Orphanet:1926)
|
Dilated cardiomyopathy with ataxia
|
(Orphanet:66634)
|
Distal monosomy 15q
|
(Orphanet:1596)
|
Distal monosomy 9p
|
(Orphanet:1642)
|
Dubowitz syndrome
|
(Orphanet:235)
|
Dyskeratosis congenita
|
(Orphanet:1775)
|
Dysmorphism - short stature - deafness - disorder of sex development
|
(Orphanet:2282)
|
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES
|
(OMIM:609944)
|
EEC syndrome
|
(Orphanet:1896)
|
Ear-patella-short stature syndrome
|
(Orphanet:2554)
|
Ectodermal dysplasia, Berlin type
|
(Orphanet:1816)
|
Ehlers-Danlos syndrome, vascular type
|
(Orphanet:286)
|
Ellis Van Creveld syndrome
|
(Orphanet:289)
|
Endocrine-cerebro-osteodysplasia syndrome
|
(Orphanet:199332)
|
Epispadias
|
(Orphanet:93928)
|
Familial hypospadias
|
(Orphanet:440)
|
Fanconi anemia
|
(Orphanet:84)
|
Fetal trimethadione syndrome
|
(Orphanet:1913)
|
Floating-Harbor syndrome
|
(Orphanet:2044)
|
Fraser syndrome
|
(Orphanet:2052)
|
Fryns syndrome
|
(Orphanet:2059)
|
Fukuda-Miyanomae-Nakata syndrome
|
(Orphanet:2060)
|
Genito-palato-cardiac syndrome
|
(Orphanet:2075)
|
German syndrome
|
(Orphanet:2077)
|
Goldberg-Shprintzen megacolon syndrome
|
(Orphanet:66629)
|
Greig cephalopolysyndactyly syndrome
|
(Orphanet:380)
|
Guttmacher syndrome
|
(Orphanet:2957)
|
HAJDU-CHENEY SYNDROME
|
(OMIM:102500)
|
HUNTER-MACDONALD SYNDROME
|
(OMIM:611962)
|
HYDROLETHALUS SYNDROME 1
|
(OMIM:236680)
|
HYPERTELORISM AND TETRALOGY OF FALLOT
|
(OMIM:239711)
|
HYPOGONADISM, MALEHYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED
|
(OMIM:241100)
|
HYPOSPADIAS 3, AUTOSOMAL
|
(OMIM:146450)
|
Hand-foot-genital syndrome
|
(Orphanet:2438)
|
Harrod syndrome
|
(Orphanet:2115)
|
Hartsfield-Bixler-Demyer syndrome
|
(Orphanet:2117)
|
Heart defect - round face - congenital developmental delay
|
(Orphanet:1355)
|
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
Holmes-Gang syndrome
|
(Orphanet:93970)
|
Holoprosencephaly - postaxial polydactyly
|
(Orphanet:2166)
|
Hoyeraal-Hreidarsson syndrome
|
(Orphanet:3322)
|
Hydrolethalus
|
(Orphanet:2189)
|
Hypertelorism - hypospadias - polysyndactyly syndrome
|
(Orphanet:2211)
|
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
|
(Orphanet:293864)
|
Hypospadias - hypertelorism - coloboma and deafness
|
(Orphanet:157788)
|
Hypospadias - intellectual deficit, Goldblatt type
|
(Orphanet:2261)
|
Hypotonia with lactic acidemia and hyperammonemia
|
(Orphanet:137908)
|
IMAGe syndrome
|
(Orphanet:85173)
|
Intellectual deficit, Buenos-Aires type
|
(Orphanet:3079)
|
Intellectual deficit, Wolff type
|
(Orphanet:3080)
|
Intellectual deficit, X-linked - craniofacioskeletal syndrome
|
(Orphanet:163979)
|
Intellectual deficit, X-linked, Wittwer type
|
(Orphanet:85291)
|
Isolated ATP synthase deficiency
|
(Orphanet:254913)
|
Jacobsen syndrome
|
(Orphanet:2308)
|
Johanson-Blizzard syndrome
|
(Orphanet:2315)
|
Juberg-Hayward syndrome
|
(Orphanet:2319)
|
Juberg-Marsidi syndrome
|
(Orphanet:93972)
|
Kabuki syndrome
|
(Orphanet:2322)
|
Kleefstra syndrome
|
(Orphanet:261494)
|
Koolen-De Vries syndrome
|
(Orphanet:96169)
|
LEOPARD SYNDROME 1
|
(OMIM:151100)
|
Lacrimo-auriculo-dento-digital syndrome
|
(Orphanet:2363)
|
Lambert syndrome
|
(Orphanet:1296)
|
Laurence-Moon syndrome
|
(Orphanet:2377)
|
Lenz-Majewski hyperostotic dwarfism
|
(Orphanet:2658)
|
Lethal hemolytic anemia - genital anomalies
|
(Orphanet:1046)
|
Lethal restrictive dermopathy
|
(Orphanet:1662)
|
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
|
(Orphanet:314051)
|
Lower limb deficiency - hypospadias
|
(Orphanet:2487)
|
Lowry-MacLean syndrome
|
(Orphanet:2409)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
|
(OMIM:615761)
|
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III
|
(OMIM:210730)
|
MICROPHTHALMIA, SYNDROMIC 1
|
(OMIM:309800)
|
MICROPHTHALMIA, SYNDROMIC 14
|
(OMIM:615877)
|
MICROPHTHALMIA, SYNDROMIC 7
|
(OMIM:309801)
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
|
(OMIM:604273)
|
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
|
(OMIM:257300)
|
MOVED TO 614732
|
(OMIM:300290)
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
McKusick-Kaufman syndrome
|
(Orphanet:2473)
|
Methimazole embryofetopathy
|
(Orphanet:1923)
|
Micrencephaly - corpus callosum agenesis - abnormal genitalia
|
(Orphanet:2508)
|
Microcephalic osteodysplastic primordial dwarfism type 2
|
(Orphanet:2637)
|
Microcephaly - cervical spine fusion anomalies
|
(Orphanet:2522)
|
Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Microphthalmia with linear skin defects syndrome
|
(Orphanet:2556)
|
Microphthalmia, Lenz type
|
(Orphanet:568)
|
Mikati-Najjar-Sahli syndrome
|
(Orphanet:2558)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
|
(Orphanet:369897)
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
Monosomy 18q
|
(Orphanet:1600)
|
Monosomy 5p
|
(Orphanet:281)
|
Monosomy 9p
|
(Orphanet:261112)
|
Mosaic trisomy 14
|
(Orphanet:1703)
|
Mosaic variegated aneuploidy syndrome
|
(Orphanet:1052)
|
Mowat-Wilson syndrome
|
(Orphanet:2152)
|
Multiple benign circumferential skin creases on limbs
|
(Orphanet:2505)
|
Myhre syndrome
|
(Orphanet:2588)
|
Myopathy - growth delay - intellectual deficit - hypospadias
|
(Orphanet:2601)
|
N syndrome
|
(Orphanet:2608)
|
Noonan syndrome with multiple lentigines
|
(Orphanet:500)
|
OPITZ-KAVEGGIA SYNDROME
|
(OMIM:305450)
|
Oculofaciocardiodental syndrome
|
(Orphanet:2712)
|
Omodysplasia
|
(Orphanet:2733)
|
Opitz G/BBB syndrome
|
(Orphanet:2745)
|
Osteocraniostenosis
|
(Orphanet:2763)
|
Osteoglophonic dwarfism
|
(Orphanet:2645)
|
Otopalatodigital syndrome
|
(Orphanet:669)
|
Otopalatodigital syndrome type 2
|
(Orphanet:90652)
|
PELVIS syndrome
|
(Orphanet:83628)
|
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
|
(OMIM:214100)
|
Partial androgen insensitivity syndrome
|
(Orphanet:90797)
|
Penoscrotal transposition
|
(Orphanet:2842)
|
Peters-plus syndrome
|
(Orphanet:709)
|
Phocomelia, Schinzel type
|
(Orphanet:2879)
|
Primordial short stature - microdontia - opalescent and rootless teeth
|
(Orphanet:46658)
|
Progeria - short stature - pigmented nevi
|
(Orphanet:2959)
|
RAPP-HODGKIN SYNDROME
|
(OMIM:129400)
|
ROBERTS SYNDROME
|
(OMIM:268300)
|
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
|
(Orphanet:2252)
|
Radius absent - anogenital anomalies
|
(Orphanet:3016)
|
Renal cysts and diabetes syndrome
|
(Orphanet:93111)
|
Renier-Gabreels-Jasper syndrome
|
(Orphanet:93975)
|
Renpenning syndrome
|
(Orphanet:3242)
|
Roberts syndrome
|
(Orphanet:3103)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
|
SCARF syndrome
|
(Orphanet:3134)
|
SECKEL SYNDROME 1
|
(OMIM:210600)
|
SECKEL SYNDROME 2
|
(OMIM:606744)
|
SILVER-RUSSELL SYNDROME
|
(OMIM:180860)
|
Schilbach-Rott syndrome
|
(Orphanet:2353)
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
Seckel syndrome
|
(Orphanet:808)
|
Short rib-polydactyly syndrome
|
(Orphanet:1505)
|
Short rib-polydactyly syndrome, Verma-Naumoff type
|
(Orphanet:93271)
|
Short stature - craniofacial anomalies - genital hypoplasia
|
(Orphanet:2994)
|
Short stature - wormian bones - dextrocardia
|
(Orphanet:2863)
|
Short-rib thoracic dysplasia 7 with or without polydactyly
|
(OMIM:614091)
|
Silver-Russell syndrome
|
(Orphanet:813)
|
Simpson-Golabi-Behmel syndrome
|
(Orphanet:373)
|
Smith-Fineman-Myers syndrome
|
(Orphanet:93974)
|
Smith-Lemli-Opitz syndrome
|
(Orphanet:818)
|
Sotos syndrome
|
(Orphanet:821)
|
Spina bifida - hypospadias
|
(Orphanet:3176)
|
THREE M SYNDROME 1
|
(OMIM:273750)
|
Telecanthus - hypertelorism - strabismus - pes cavus
|
(Orphanet:3293)
|
Tetrasomy 12p
|
(Orphanet:884)
|
Toriello-Carey syndrome
|
(Orphanet:3338)
|
Toriello-Lacassie-Droste syndrome
|
(Orphanet:3339)
|
Townes-Brocks syndrome
|
(Orphanet:857)
|
Tracheo-esophageal fistula - hypospadias
|
(Orphanet:2042)
|
Tricho-retino-dento-digital syndrome
|
(Orphanet:1264)
|
Triploidy
|
(Orphanet:3376)
|
Trisomy 13
|
(Orphanet:3378)
|
Trisomy 20p
|
(Orphanet:261318)
|
Trisomy 4p
|
(Orphanet:1738)
|
Trisomy 8q
|
(Orphanet:1752)
|
VACTERL/VATER association
|
(Orphanet:887)
|
VAN MALDERGEM SYNDROME 1
|
(OMIM:601390)
|
VAN MALDERGEM SYNDROME 2
|
(OMIM:615546)
|
Van Regemorter-Pierquin-Vamos syndrome
|
(Orphanet:3419)
|
Vici syndrome
|
(Orphanet:1493)
|
W syndrome
|
(Orphanet:2804)
|
WAGR syndrome
|
(Orphanet:893)
|
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME
|
(OMIM:194072)
|
Wiedemann-Rautenstrauch syndrome
|
(Orphanet:3455)
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|
X-linked Opitz G/BBB syndrome
|
(Orphanet:306597)
|
X-linked distal arthrogryposis multiplex congenita
|
(Orphanet:1145)
|
X-linked intellectual deficit - hypotonic face
|
(Orphanet:73220)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|
Zellweger syndrome
|
(Orphanet:912)
|