Cryptorchidism

Symptom Information:

Symptom ID: HPO:0000028
Synonyms:
Undescended testes [HPO:0000028]
Undescended testis [HPO:0000028]
Undescended testis (body structure) [Orphanet:39380]
Undescended testicle (disorder) [Orphanet:39380]
Cryptorchidism [Orphanet:39380]
Cryptorchidism [OMIM:Cryptorchidism]
Undescended testes [OMIM:Undescended testes]
Undescended testis [OMIM:Undescended testis]
Undescended/ectopic testes/cryptorchidia/unfixed testes [Orphanet:39380]
Cryptorchism [Orphanet:39380]
Cryptorchism [MedDRA:10011498]
Maldescended testicle [MedDRA:10011498]
Maldescended testis [MedDRA:10011498]
Testicle maldescended [MedDRA:10011498]
Testicle undescended [MedDRA:10011498]
Undescended testicle [MedDRA:10011498]
Undescended testis [MedDRA:10011498]
Cryptorchidism [MedDRA:10011498]
Ectopic testis [MedDRA:10011498]
Cryptorchidism (1 patient) [OMIM:Cryptorchidism (1 patient)]
Cryptorchidism (67%) [OMIM:Cryptorchidism (67%)]
Cryptorchidism (72%) [OMIM:Cryptorchidism (72%)]
Cryptorchidism (in 1 of 3 siblings) [OMIM:Cryptorchidism (in 1 of 3 siblings)]
Cryptorchidism (in most patients) [OMIM:Cryptorchidism (in most patients)]
Cryptorchidism (in some patients) [OMIM:Cryptorchidism (in some patients)]
Cryptorchidism (rare) [OMIM:Cryptorchidism (rare)]
Cryptorchidism (testes in inguinal canal) [OMIM:Cryptorchidism (testes in inguinal canal)]
Cryptorchidism (uncommon) [OMIM:Cryptorchidism (uncommon)]
Cryptorchidism (unilateral or bilateral) [OMIM:Cryptorchidism (unilateral or bilateral)]
Ectopic testis [OMIM:Ectopic testis]
Undescended testis (rare) [OMIM:Undescended testis (rare)]
Testicular retraction [MedDRA:10043348]
Retractile testis [Orphanet:39380]
Retractile testis (disorder) [Orphanet:39380]
Ectopic testis [MedDRA:10059170]
Ectopic testis (disorder) [Orphanet:39380]
Ectopic testis [Orphanet:39380]
Quality:
Cross references:
HPO:0008689 "Bilateral cryptorchidism" [Orphanet:39380]
Orphanet:39380 "Undescended/ectopic testes/cryptorchidia/unfixed testes" [Orphanet:39380]
OMIM: "Cryptorchidism" [OMIM:Cryptorchidism]
OMIM: "Undescended testes" [OMIM:Undescended testes]
OMIM: "Undescended testis" [OMIM:Undescended testis]
OMIM: "Cryptorchidism (1 patient)" [OMIM:Cryptorchidism (1 patient)]
OMIM: "Cryptorchidism (67%)" [OMIM:Cryptorchidism (67%)]
OMIM: "Cryptorchidism (72%)" [OMIM:Cryptorchidism (72%)]
OMIM: "Cryptorchidism (in 1 of 3 siblings)" [OMIM:Cryptorchidism (in 1 of 3 siblings)]
OMIM: "Cryptorchidism (in most patients)" [OMIM:Cryptorchidism (in most patients)]
OMIM: "Cryptorchidism (in some patients)" [OMIM:Cryptorchidism (in some patients)]
OMIM: "Cryptorchidism (rare)" [OMIM:Cryptorchidism (rare)]
OMIM: "Cryptorchidism (testes in inguinal canal)" [OMIM:Cryptorchidism (testes in inguinal canal)]
OMIM: "Cryptorchidism (uncommon)" [OMIM:Cryptorchidism (uncommon)]
OMIM: "Cryptorchidism (unilateral or bilateral)" [OMIM:Cryptorchidism (unilateral or bilateral)]
OMIM: "Ectopic testis" [OMIM:Ectopic testis]
OMIM: "Undescended testis (rare)" [OMIM:Undescended testis (rare)]
UMLS:C0010417 "Cryptorchidism" [HPO:0000028]
UMLS:C0010417 "Cryptorchidism" [Orphanet:39380]
UMLS:C0520578 "Retractile testis" [Orphanet:39380]
UMLS:C0302889 "Ectopic testis" [Orphanet:39380]
Is a (Direct Parents):
HPO         Unilateral cryptorchidism
MedDRA Male reproductive tract disorders congenital
HPO         Abnormality of the testis
HPO         Abnormality of male external genitalia
Orphanet Abnormality of the testis
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 external genitalia(HPO:0000811)
                   Abnormality of male external genitalia(HPO:0000032)
                      Cryptorchidism(HPO:0000028)
                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 external genitalia(HPO:0000032)
                      Cryptorchidism(HPO:0000028)
                   Abnormality of male internal genitalia(HPO:0000022)
                      Abnormality of the testis(HPO:0000035)
                         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)
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)