Cryptorchidism
Symptom Information:
Symptom ID: | HPO:0000028 | |||||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the genitourinary system(HPO:0000119) Abnormality of the genital system(HPO:0000078) Abnormal genital system morphology(HPO:0012243) Abnormal internal genitalia(HPO:0000812) Abnormality of male internal genitalia(HPO:0000022) Abnormality of the testis(HPO:0000035) Cryptorchidism(HPO:0000028) Abnormality of the male genitalia(HPO:0010461) Abnormality of male internal genitalia(HPO:0000022) Abnormality of the testis(HPO:0000035) Cryptorchidism(HPO:0000028) Abnormality of male external genitalia(HPO:0000032) Cryptorchidism(HPO:0000028) Abnormal external genitalia(HPO:0000811) Abnormality of male external genitalia(HPO:0000032) Cryptorchidism(HPO:0000028) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Reproductive tract and breast disorders congenital(MedDRA:10038608) Male reproductive tract disorders congenital(MedDRA:10025517) Cryptorchidism(HPO:0000028) |
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Database Frequency: | 347 / 7739 | |||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
15q24 microdeletion syndrome | (Orphanet:94065) |
17q12 microdeletion syndrome | (Orphanet:261265) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
3-methylglutaconic aciduria type 4 | (Orphanet:67048) |
3MC SYNDROME 2 | (OMIM:265050) |
3MC SYNDROME 3 | (OMIM:248340) |
3q13 microdeletion syndrome | (Orphanet:1621) |
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency | (Orphanet:90796) |
48,XXYY syndrome | (Orphanet:10) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
ADRENAL HYPOPLASIA, CONGENITAL | (OMIM:300200) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AXENFELD-RIEGER SYNDROME, TYPE 2 | (OMIM:601499) |
Aarskog-Scott syndrome | (Orphanet:915) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acrocallosal syndrome | (Orphanet:36) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Acromelic frontonasal dysplasia | (Orphanet:1827) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Apert syndrome | (Orphanet:87) |
Arthrogryposis multiplex congenita | (Orphanet:1037) |
Atelosteogenesis type I | (Orphanet:1190) |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | (Orphanet:1192) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant omodysplasia | (Orphanet:93328) |
Autosomal dominant popliteal pterygium syndrome | (Orphanet:1300) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BIFID NOSE, AUTOSOMAL DOMINANT | (OMIM:109740) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BRESEK syndrome | (Orphanet:85284) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Beckwith-Wiedemann syndrome | (Orphanet:116) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Beckwith-Wiedemann syndrome due to CDKN1C mutation | (Orphanet:231120) |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | (Orphanet:231117) |
Bifid nose | (Orphanet:2695) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Bloom syndrome | (Orphanet:125) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
C syndrome | (Orphanet:1308) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CATEL-MANZKE SYNDROME | (OMIM:616145) |
CHARGE syndrome | (Orphanet:138) |
CHROMOSOME 15q25 DELETION SYNDROME | (OMIM:614294) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
CODAS syndrome | (Orphanet:1458) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
CRYPTORCHIDISM, UNILATERAL OR BILATERAL | (OMIM:219050) |
CULLER-JONES SYNDROME | (OMIM:615849) |
Cabezas syndrome | (Orphanet:85293) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carney complex | (Orphanet:1359) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Catel-Manzke syndrome | (Orphanet:1388) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cloacal exstrophy | (Orphanet:93929) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Siris syndrome | (Orphanet:1465) |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | (Orphanet:363741) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
DPAGT1-CDG | (Orphanet:86309) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | (OMIM:613990) |
DYSMYELINATION WITH JAUNDICE | (OMIM:224250) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Digitotalar dysmorphism | (Orphanet:1146) |
Dilated cardiomyopathy with ataxia | (Orphanet:66634) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 3p | (Orphanet:1620) |
Dubowitz syndrome | (Orphanet:235) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Dyssegmental dysplasia, Silverman-Handmaker type | (Orphanet:1865) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 | (OMIM:129900) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 | (OMIM:604292) |
EEC syndrome | (Orphanet:1896) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ellis Van Creveld syndrome | (Orphanet:289) |
Emanuel syndrome | (Orphanet:96170) |
Encephalocraniocutaneous lipomatosis | (Orphanet:2396) |
Endocrine-cerebro-osteodysplasia syndrome | (Orphanet:199332) |
Endomyocardial fibroelastosis | (Orphanet:2022) |
Exstrophy-epispadias complex | (Orphanet:322) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FANCONI ANEMIA, COMPLEMENTATION GROUP O | (OMIM:613390) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
FETAL AKINESIA DEFORMATION SEQUENCE | (OMIM:208150) |
Faciocardiorenal syndrome | (Orphanet:1973) |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone | (Orphanet:95700) |
Fanconi anemia | (Orphanet:84) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Filippi syndrome | (Orphanet:3255) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Floating-Harbor syndrome | (Orphanet:2044) |
Focal dermal hypoplasia | (Orphanet:2092) |
Fraser syndrome | (Orphanet:2052) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Fryns syndrome | (Orphanet:2059) |
Genitopatellar syndrome | (Orphanet:85201) |
Gordon syndrome | (Orphanet:376) |
Greig cephalopolysyndactyly syndrome | (Orphanet:380) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES | (OMIM:614684) |
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA | (OMIM:308700) |
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA | (OMIM:614840) |
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA | (OMIM:614841) |
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA | (OMIM:614858) |
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA | (OMIM:614880) |
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA | (OMIM:614897) |
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA | (OMIM:147950) |
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA | (OMIM:616030) |
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA | (OMIM:244200) |
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA | (OMIM:610628) |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA | (OMIM:614837) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Harrod syndrome | (Orphanet:2115) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hennekam syndrome | (Orphanet:2136) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
IMAGe syndrome | (Orphanet:85173) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked, Snyder type | (Orphanet:3063) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome 28 | (OMIM:617121) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA | (OMIM:308750) |
KBG syndrome | (Orphanet:2332) |
Kabuki syndrome | (Orphanet:2322) |
Kallmann syndrome | (Orphanet:478) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Kleefstra syndrome | (Orphanet:261494) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leprechaunism | (Orphanet:508) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
MACS syndrome | (Orphanet:217335) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MEIER-GORLIN SYNDROME 3 | (OMIM:613803) |
MEIER-GORLIN SYNDROME 4 | (OMIM:613804) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 | (OMIM:615761) |
MENTAL RETARDATION, X-LINKED 93 | (OMIM:300659) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 12 | (OMIM:615524) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | (OMIM:615824) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MMEP syndrome | (Orphanet:3434) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOVED TO 614732 | (OMIM:300290) |
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | (OMIM:613834) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
Mandibular hypoplasia-deafness-progeroid syndrome | (Orphanet:363649) |
Marden-Walker syndrome | (Orphanet:2461) |
Matthew-Wood syndrome | (Orphanet:2470) |
McDonough syndrome | (Orphanet:2471) |
McKusick-Kaufman syndrome | (Orphanet:2473) |
Meckel syndrome | (Orphanet:564) |
Meckel syndrome, type 1 | (OMIM:249000) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Micro syndrome | (Orphanet:2510) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 5p | (Orphanet:281) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Myhre syndrome | (Orphanet:2588) |
N syndrome | (Orphanet:2608) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 6 | (OMIM:613224) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Native American myopathy | (Orphanet:168572) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Normosmic congenital hypogonadotropic hypogonadism | (Orphanet:432) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Ochoa syndrome | (Orphanet:2704) |
Oculocerebrocutaneous syndrome | (Orphanet:1647) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Omodysplasia | (Orphanet:2733) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PYCR1-related DeBarsy syndrome | (Orphanet:293633) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
Pallister-Hall syndrome | (Orphanet:672) |
Partial androgen insensitivity syndrome | (Orphanet:90797) |
Perlman syndrome | (Orphanet:2849) |
Peters-plus syndrome | (Orphanet:709) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | (Orphanet:306547) |
Postaxial acrofacial dysostosis | (Orphanet:246) |
Prader-Willi syndrome | (Orphanet:739) |
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome | (Orphanet:276432) |
Prune belly syndrome | (Orphanet:2970) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Qazi-Markouizos syndrome | (Orphanet:3010) |
ROBERTS SYNDROME | (OMIM:268300) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Roberts syndrome | (Orphanet:3103) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Ruvalcaba syndrome | (Orphanet:3121) |
SCARF syndrome | (Orphanet:3134) |
SCHAAF-YANG SYNDROME | (OMIM:615547) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | (OMIM:612447) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
STERNUM, PREMATURE OBLITERATION OF SUTURES OF | (OMIM:184800) |
STT3B-CDG | (Orphanet:370924) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Seckel syndrome | (Orphanet:808) |
Short-rib thoracic dysplasia 11 with or without polydactyly | (OMIM:615633) |
Short-rib thoracic dysplasia 13 with or without polydactyly | (OMIM:616300) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Steinert myotonic dystrophy | (Orphanet:273) |
Sudden infant death - dysgenesis of the testes | (Orphanet:168593) |
Syndromic X-linked ichthyosis | (Orphanet:281090) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
TEMPLE SYNDROME | (OMIM:616222) |
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE | (OMIM:615542) |
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES | (OMIM:273390) |
Testicular teratoma | (Orphanet:363483) |
Tetrasomy 12p | (Orphanet:884) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Torticollis - keloids - cryptorchidism - renal dysplasia | (Orphanet:3341) |
Townes-Brocks syndrome | (Orphanet:857) |
Treacher-Collins syndrome | (Orphanet:861) |
Trichomegaly - retina pigmentary degeneration - dwarfism | (Orphanet:3363) |
UROFACIAL SYNDROME 1 | (OMIM:236730) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
WAARDENBURG SYNDROME, TYPE 4C | (OMIM:613266) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
WEBB-DATTANI SYNDROME | (OMIM:615926) |
WIDOW'S PEAK SYNDROME | (OMIM:314570) |
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME | (OMIM:194072) |
WT limb-blood syndrome | (Orphanet:3466) |
Weaver syndrome | (Orphanet:3447) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Opitz G/BBB syndrome | (Orphanet:306597) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |