Multiple congenital anomalies/dysmorphic syndrome

Part of

Sub-types of Multiple congenital anomalies/dysmorphic syndrome

• Multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0 trials · 163 incl. sub-types
  168 sub-types

  • Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
  • CHILD syndrome 37 trials
  • Autosomal dominant prognathism 26 trials
  • Alagille syndrome 15 trials Sub-types →
  • Van der Woude syndrome 8 trials Sub-types →
  • Binder syndrome 7 trials
  • Matthew-Wood syndrome 5 trials
  • Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types Sub-types →
  • Pelvis syndrome 5 trials
  • Noonan syndrome with multiple lentigines 3 trials Sub-types →
  • Lethal congenital contracture syndrome 2 3 trials
  • Axenfeld-Rieger syndrome 1 trial Sub-types →
  • BNAR syndrome 1 trial
  • Freeman-Sheldon syndrome 1 trial Sub-types →
  • Nijmegen breakage syndrome 1 trial
  • Waardenburg syndrome 1 trial Sub-types →
  • Arhinia, choanal atresia, and microphthalmia 1 trial
  • Cherubism 1 trial Sub-types →
  • Postaxial acrofacial dysostosis 1 trial
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 1 trial
  • 3-M syndrome 0 trials Sub-types →
  • 49,XYYYY syndrome 0 trials
  • 8q22.1 microdeletion syndrome 0 trials
  • Aase-Smith syndrome 0 trials
  • Abruzzo-Erickson syndrome 0 trials
  • Ackerman syndrome 0 trials
  • Ascher syndrome 0 trials
  • Barber-Say syndrome 0 trials
  • Beare-Stevenson cutis gyrata syndrome 0 trials
  • Beemer-Ertbruggen syndrome 0 trials
  • Bencze syndrome 0 trials
  • Braddock syndrome 0 trials
  • CODAS syndrome 0 trials
  • Charlie M syndrome 0 trials
  • Cole-Carpenter syndrome 0 trials Sub-types →
  • Cooper-Jabs syndrome 0 trials
  • Cyprus facial-neuromusculoskeletal syndrome 0 trials
  • Czeizel-Losonci syndrome 0 trials
  • Dahlberg-Borer-Newcomer syndrome 0 trials
  • Donohue syndrome 0 trials
  • Fibulo-ulnar hypoplasia-renal anomalies syndrome 0 trials
  • Fontaine progeroid syndrome 0 trials
  • Fraser syndrome 0 trials Sub-types →
  • Frias syndrome 0 trials
  • Gordon syndrome 0 trials
  • Greig cephalopolysyndactyly-contiguous gene syndrome 0 trials
  • Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
  • Hirschsprung disease-type D brachydactyly syndrome 0 trials
  • Holt-Oram syndrome 0 trials Sub-types →
  • Holzgreve-Wagner-Rehder syndrome 0 trials
  • Juberg-Hayward syndrome 0 trials
  • Keipert syndrome 0 trials
  • LADD syndrome 0 trials Sub-types →
  • Marshall syndrome 0 trials
  • McKusick-Kaufman syndrome 0 trials
  • Nager acrofacial dysostosis 0 trials
  • Nijmegen breakage syndrome-like disorder 0 trials
  • PAGOD syndrome 0 trials
  • PARC syndrome 0 trials
  • PHAVER syndrome 0 trials
  • Richieri Costa-Pereira syndrome 0 trials
  • Richieri Costa-da Silva syndrome 0 trials
  • SHORT syndrome 0 trials
  • Schilbach-Rott syndrome 0 trials
  • Thomas syndrome 0 trials
  • Townes-Brocks syndrome 0 trials Sub-types →
  • Treacher-Collins syndrome 0 trials Sub-types →
  • Verloove Vanhorick-Brubakk syndrome 0 trials
  • Vici syndrome 0 trials
  • Warsaw breakage syndrome 0 trials
  • Weill-Marchesani syndrome 0 trials Sub-types →
  • Absent tibia-polydactyly-arachnoid cyst syndrome 0 trials
  • Acro-renal-mandibular syndrome 0 trials
  • Acrocraniofacial dysostosis 0 trials
  • Acrofacial dysostosis, Weyers type 0 trials
  • Acrofrontofacionasal dysostosis 2 0 trials
  • Acrorenal syndrome 0 trials Sub-types →
  • Alar cartilages hypoplasia-coloboma-telecanthus syndrome 0 trials
  • Anonychia-microcephaly syndrome 0 trials
  • Anophthalmia plus syndrome 0 trials
  • Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
  • Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
  • Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 0 trials
  • Autosomal recessive faciodigitogenital syndrome 0 trials
  • Autosomal recessive multiple pterygium syndrome 0 trials Sub-types →
  • Blepharocheilodontic syndrome 0 trials Sub-types →
  • Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
  • Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
  • Branchio-oto-renal syndrome 0 trials Sub-types →
  • Branchiooculofacial syndrome 0 trials
  • Branchiootic syndrome 0 trials Sub-types →
  • Camptodactyly syndrome, Guadalajara type 1 0 trials
  • Camptodactyly syndrome, Guadalajara type 2 0 trials
  • Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
  • Cataract-aberrant oral frenula-growth delay syndrome 0 trials
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 trials
  • Cleft lip-retinopathy syndrome 0 trials
  • Cleft lip/palate-intestinal malrotation-cardiopathy syndrome 0 trials
  • Cleft palate-lateral synechia syndrome 0 trials
  • Congenital vertebral-cardiac-renal anomalies syndrome 0 trials Sub-types →
  • Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 0 trials
  • Craniofacial-deafness-hand syndrome 0 trials
  • Craniolenticulosutural dysplasia 0 trials
  • Cryptomicrotia-brachydactyly-excess fingertip arch syndrome 0 trials
  • Deafness-craniofacial syndrome 0 trials
  • Developmental malformations-deafness-dystonia syndrome 0 trials
  • Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
  • Digitotalar dysmorphism 0 trials Sub-types →
  • Dislocation of the hip-dysmorphism syndrome 0 trials
  • Dysmorphism-pectus carinatum-joint laxity syndrome 0 trials
  • Even-plus syndrome 0 trials
  • External auditory canal atresia-vertical talus-hypertelorism syndrome 0 trials
  • Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 0 trials
  • Femoral-facial syndrome 0 trials
  • Fetal akinesia deformation sequence 0 trials Sub-types →
  • Flat face-microstomia-ear anomaly syndrome 0 trials
  • Frontofacionasal dysplasia 0 trials
  • Genito-palato-cardiac syndrome 0 trials
  • Gingival fibromatosis-facial dysmorphism syndrome 0 trials
  • Grange syndrome 0 trials
  • Hand-foot-genital syndrome 0 trials
  • Heart defect - tongue hamartoma - polysyndactyly syndrome 0 trials
  • Heart defects-limb shortening syndrome 0 trials
  • Heart-hand syndrome type 2 0 trials
  • Hydrocephaly-tall stature-joint laxity syndrome 0 trials
  • Hypertrichosis-acromegaloid facial appearance syndrome 0 trials
  • Ichthyosis-oral and digital anomalies syndrome 0 trials
  • Lethal congenital contracture syndrome 1 0 trials
  • Lethal congenital contracture syndrome 3 0 trials
  • Macrosomia-microphthalmia-cleft palate syndrome 0 trials
  • Macrostomia-preauricular tags-external ophthalmoplegia syndrome 0 trials
  • Mandibuloacral dysplasia 0 trials Sub-types →
  • Median nodule of the upper lip 0 trials
  • Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
  • Microcephaly-albinism-digital anomalies syndrome 0 trials
  • Microcephaly-cardiac defect-lung malsegmentation syndrome 0 trials
  • Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 0 trials
  • Mullerian duct anomalies-limb anomalies syndrome 0 trials
  • Multinodular goiter-cystic kidney-polydactyly syndrome 0 trials
  • Nasopalpebral lipoma-coloboma syndrome 0 trials
  • Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
  • Night blindness-skeletal anomalies-dysmorphism syndrome 0 trials
  • Otoonychoperoneal syndrome 0 trials
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 trials
  • Pectus excavatum-macrocephaly-dysplastic nails syndrome 0 trials
  • Pentalogy of Cantrell 0 trials
  • Polysyndactyly-cardiac malformation syndrome 0 trials
  • Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
  • Progressive non-infectious anterior vertebral fusion 0 trials
  • Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
  • Rapadilino syndrome 0 trials
  • Renal-genital-middle ear anomalies 0 trials
  • Scalp-ear-nipple syndrome 0 trials
  • Short stature-craniofacial anomalies-genital hypoplasia syndrome 0 trials
  • Short stature-valvular heart disease-characteristic facies syndrome 0 trials
  • Short tarsus-absence of lower eyelashes syndrome 0 trials
  • Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
  • Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
  • Structural heart defects and renal anomalies syndrome 0 trials
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
  • Tetraamelia-multiple malformations syndrome 0 trials Sub-types →
  • Thymic-renal-anal-lung dysplasia 0 trials
  • Trigonocephaly-bifid nose-acral anomalies syndrome 0 trials
  • Van den Ende-Gupta syndrome 0 trials
  • Velo-facial-skeletal syndrome 0 trials
  • Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 0 trials
  • Von Voss-Cherstvoy syndrome 0 trials
  • White forelock with malformations 0 trials
• Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 0 trials · 90 incl. sub-types
  69 sub-types

  • Prader-Willi syndrome 31 trials Sub-types →
  • Noonan syndrome 21 trials · 24 incl. sub-types Sub-types →
  • 22q11.2 deletion syndrome 7 trials · 13 incl. sub-types Sub-types →
  • Silver-Russell syndrome 7 trials Sub-types →
  • CHARGE syndrome 4 trials Sub-types →
  • Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
  • Antley-Bixler syndrome 2 trials Sub-types →
  • Mobius syndrome 2 trials Sub-types →
  • PHACE syndrome 2 trials
  • Pallister-Hall syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Meier-Gorlin syndrome 1 trial Sub-types →
  • Sotos syndrome 1 trial
  • Occipital horn syndrome 1 trial
  • Split hand-foot malformation 3 1 trial
  • 4q25 proximal deletion syndrome 0 trials
  • Bosley-Salih-Alorainy syndrome 0 trials
  • Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
  • Carpenter syndrome 0 trials Sub-types →
  • Char syndrome 0 trials
  • Donnai-Barrow syndrome 0 trials
  • Goodman syndrome 0 trials
  • Hennekam-Beemer syndrome 0 trials
  • Hypoglossia-hypodactyly syndrome 0 trials
  • Kallmann syndrome-heart disease syndrome 0 trials
  • King-Denborough syndrome 0 trials
  • Malan overgrowth syndrome 0 trials
  • Marshall-Smith syndrome 0 trials
  • Mietens syndrome 0 trials
  • Noonan syndrome-like disorder with loose anagen hair 0 trials Sub-types →
  • Potocki-Shaffer syndrome 0 trials
  • Prader-Willi-like syndrome 0 trials Sub-types →
  • Robinow syndrome 0 trials Sub-types →
  • SHORT syndrome 0 trials
  • Schinzel-Giedion syndrome 0 trials
  • TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
  • Toriello-Carey syndrome 0 trials
  • Weiss-Kruszka syndrome 0 trials
  • Ablepharon macrostomia syndrome 0 trials
  • Acromegaloid facial appearance syndrome 0 trials
  • Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
  • Autosomal dominant popliteal pterygium syndrome 0 trials
  • Autosomal dominant primary microcephaly 0 trials Sub-types →
  • Branchiogenic deafness syndrome 0 trials
  • Campomelia, Cumming type 0 trials
  • Campomelic dysplasia 0 trials
  • Cerebrocostomandibular syndrome 0 trials
  • Chromosome 1p32-p31 deletion syndrome 0 trials
  • Combined immunodeficiency with faciooculoskeletal anomalies 0 trials
  • Contractures-developmental delay-Pierre Robin syndrome 0 trials
  • Dysmorphism-conductive hearing loss-heart defect syndrome 0 trials
  • Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 0 trials
  • Hypertrichotic osteochondrodysplasia Cantu type 0 trials
  • Hypomandibular faciocranial dysostosis 0 trials
  • Isotretinoin-like syndrome 0 trials Sub-types →
  • Lethal faciocardiomelic dysplasia 0 trials
  • Microgastria-limb reduction defect syndrome 0 trials
  • Microphthalmia with limb anomalies 0 trials
  • Mosaic SMO syndrome 0 trials Sub-types →
  • Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 0 trials
  • Oculodentodigital dysplasia 0 trials Sub-types →
  • Oculotrichoanal syndrome 0 trials
  • Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 0 trials
  • Polyvalvular heart disease syndrome 0 trials Sub-types →
  • Restrictive dermopathy 1 0 trials
  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
  • Short stature-heart defect-craniofacial anomalies syndrome 0 trials
  • Short stature-wormian bones-dextrocardia syndrome 0 trials
  • Symptomatic form of Coffin-Lowry syndrome in female carriers 0 trials
  • Ulnar-mammary syndrome 0 trials
• Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 1 trial · 59 incl. sub-types
  338 sub-types

  • Costello syndrome 7 trials
  • Cardiofaciocutaneous syndrome 7 trials Sub-types →
  • Smith-Lemli-Opitz syndrome 6 trials
  • Creatine transporter deficiency 6 trials
  • Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
  • Smith-Magenis syndrome 5 trials
  • Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
  • Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types Sub-types →
  • Rubinstein-Taybi syndrome 3 trials Sub-types →
  • Syndromic X-linked intellectual disability Lubs type 3 trials Sub-types →
  • KBG syndrome 2 trials
  • Kabuki syndrome 2 trials Sub-types →
  • Mowat-Wilson syndrome 2 trials Sub-types →
  • Acrocallosal syndrome 2 trials
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
  • AICA-ribosiduria 1 trial
  • Bannayan-Riley-Ruvalcaba syndrome 1 trial
  • Bohring-Opitz syndrome 1 trial
  • Coffin-Siris syndrome 1 trial Sub-types →
  • Cohen syndrome 1 trial
  • Fryns syndrome 1 trial
  • Koolen-de Vries syndrome 1 trial Sub-types →
  • MMEP syndrome 1 trial
  • Schuurs-Hoeijmakers syndrome 1 trial
  • Shprintzen-Goldberg syndrome 1 trial
  • Autism spectrum disorder due to AUTS2 deficiency 1 trial
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
  • Chromosome 15q13.3 microdeletion syndrome 1 trial
  • Chromosome 15q24 deletion syndrome 1 trial
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
  • Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 0 trials · 1 incl. sub-types Sub-types →
  • Pseudoaminopterin syndrome 1 trial
  • Syndromic X-linked intellectual disability 5 1 trial
  • Trichorhinophalangeal syndrome type II 1 trial
  • 10p13-p14 deletion syndrome 0 trials
  • 11p15.4 microduplication syndrome 0 trials
  • 11q22.2q22.3 microdeletion syndrome 0 trials
  • 13q12.3 microdeletion syndrome 0 trials
  • 14q24.1q24.3 microdeletion syndrome 0 trials
  • 15q overgrowth syndrome 0 trials Sub-types →
  • 16p12.1p12.3 triplication syndrome 0 trials
  • 19p13.3 microduplication syndrome 0 trials
  • 1p35.2 microdeletion syndrome 0 trials
  • 20p13 microdeletion syndrome 0 trials
  • 20q11.2 microdeletion syndrome 0 trials
  • 20q11.2 microduplication syndrome 0 trials
  • 2p13.2 microdeletion syndrome 0 trials
  • 2q13 microdeletion syndrome 0 trials
  • 3MC syndrome 0 trials Sub-types →
  • 3q26q28 deletion syndrome 0 trials
  • 3q27.3 microdeletion syndrome 0 trials
  • 5q14.3 microdeletion syndrome 0 trials
  • 7p22.1 microduplication syndrome 0 trials
  • 8q24.3 microdeletion syndrome 0 trials
  • 9q31.1q31.3 microdeletion syndrome 0 trials
  • 9q33.3q34.11 microdeletion syndrome 0 trials
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
  • Ayme-Gripp syndrome 0 trials
  • Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
  • Biemond syndrome type 2 0 trials
  • Bonnemann-Meinecke-Reich syndrome 0 trials
  • Bowen-Conradi syndrome 0 trials
  • C syndrome 0 trials
  • CHIME syndrome 0 trials
  • CTCF-related neurodevelopmental disorder 0 trials
  • Catel-Manzke syndrome 0 trials
  • DYRK1A-related intellectual disability syndrome 0 trials Sub-types →
  • DeSanto-Shinawi syndrome 0 trials Sub-types →
  • Dubowitz syndrome 0 trials
  • Elsahy-Waters syndrome 0 trials
  • FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 0 trials
  • Filippi syndrome 0 trials
  • Fine-Lubinsky syndrome 0 trials
  • Floating-Harbor syndrome 0 trials
  • GAPO syndrome 0 trials
  • Gabriele de Vries syndrome 0 trials
  • Goldberg-Shprintzen syndrome 0 trials
  • Hall-Riggs syndrome 0 trials
  • Harrod syndrome 0 trials
  • Hartsfield-Bixler-Demyer syndrome 0 trials
  • Hennekam syndrome 0 trials Sub-types →
  • Hernández-Aguirre Negrete syndrome 0 trials
  • Houge-Janssens syndrome 1 0 trials
  • Houge-Janssens syndrome 2 0 trials
  • Jawad syndrome 0 trials
  • Johanson-Blizzard syndrome 0 trials
  • Johnson neuroectodermal syndrome 0 trials
  • KAT6B-related multiple congenital anomalies syndrome 0 trials
  • KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome 0 trials
  • Kapur-Toriello syndrome 0 trials
  • Keutel syndrome 0 trials
  • Kleefstra syndrome 0 trials Sub-types →
  • Lambert syndrome 0 trials
  • Laurence-Moon syndrome 0 trials
  • Lenz-Majewski hyperostotic dwarfism 0 trials
  • Lowry-MacLean syndrome 0 trials
  • Marden-Walker syndrome 0 trials
  • Martsolf syndrome 1 0 trials
  • McDonough syndrome 0 trials
  • Myhre syndrome 0 trials
  • N syndrome 0 trials
  • Neu-Laxova syndrome 0 trials Sub-types →
  • Oliver syndrome 0 trials
  • Opitz G/BBB syndrome 0 trials Sub-types →
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
  • PRC-2 complex-related overgrowth spectrum 0 trials
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials Sub-types →
  • Peters plus syndrome 0 trials
  • Pfeiffer-Palm-Teller syndrome 0 trials
  • Pierpont syndrome 0 trials
  • Pilarowski-Bjornsson syndrome 0 trials
  • Ramos-Arroyo syndrome 0 trials
  • Ritscher-Schinzel syndrome 0 trials Sub-types →
  • SIN3A-related intellectual disability syndrome 0 trials Sub-types →
  • SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 0 trials Sub-types →
  • SLC39A8-CDG 0 trials
  • SSR4-congenital disorder of glycosylation 0 trials
  • Say-Barber-Miller syndrome 0 trials
  • Skraban-Deardorff syndrome 0 trials
  • Stimmler syndrome 0 trials
  • Stromme syndrome 0 trials
  • TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
  • THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 trials
  • Tatton-Brown-Rahman overgrowth syndrome 0 trials
  • Ulbright-Hodes syndrome 0 trials
  • Warburg micro syndrome 0 trials Sub-types →
  • Weaver syndrome 0 trials
  • Weaver-Williams syndrome 0 trials
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • Wiedemann-Steiner syndrome 0 trials
  • Wolf-Hirschhorn syndrome 0 trials
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
  • X-linked intellectual disability with marfanoid habitus 0 trials
  • X-linked intellectual disability, Cabezas type 0 trials
  • X-linked intellectual disability, Pai type 0 trials
  • X-linked intellectual disability, Stevenson type 0 trials
  • X-linked intellectual disability, Stoll type 0 trials
  • X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
  • X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
  • X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
  • X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
  • X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
  • X-linked intellectual disability-plagiocephaly syndrome 0 trials
  • X-linked intellectual disability-short stature-overweight syndrome 0 trials
  • XYLT1-congenital disorder of glycosylation 0 trials
  • Xp22.13p22.2 duplication syndrome 0 trials
  • ZTTK syndrome 0 trials
  • Zechi-Ceide syndrome 0 trials
  • Acrocardiofacial syndrome 0 trials
  • Acrofacial dysostosis Rodriguez type 0 trials
  • Acrofacial dysostosis, Catania type 0 trials
  • Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 0 trials
  • Agnathia-otocephaly complex 0 trials
  • Anencephaly 1 0 trials
  • Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
  • Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 0 trials
  • Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 0 trials
  • Arachnodactyly-abnormal ossification-intellectual disability syndrome 0 trials
  • Ataxia-photosensitivity-short stature syndrome 0 trials
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
  • Autosomal recessive spinocerebellar ataxia 20 0 trials
  • Bird headed-dwarfism, Montreal type 0 trials
  • Blepharonasofacial malformation syndrome 0 trials
  • Blepharophimosis - intellectual disability syndrome 0 trials Sub-types →
  • Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 0 trials
  • Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
  • Brain malformation-congenital heart disease-postaxial polydactyly syndrome 0 trials
  • Camptodactyly syndrome, Guadalajara type 3 0 trials
  • Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 0 trials
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
  • Cardiocranial syndrome, Pfeiffer type 0 trials
  • Cataract-deafness-hypogonadism syndrome 0 trials
  • Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
  • Caudal appendage-deafness syndrome 0 trials
  • Cerebellar-facial-dental syndrome 0 trials
  • Cerebrooculonasal syndrome 0 trials
  • Chromosome 16q22 deletion syndrome 0 trials
  • Chromosome 17p13.3 duplication syndrome 0 trials
  • Chromosome 17q21.31 duplication syndrome 0 trials
  • Chromosome 19p13.13 deletion syndrome 0 trials
  • Chromosome 19q13.11 deletion syndrome 0 trials Sub-types →
  • Chromosome 5p13 duplication syndrome 0 trials
  • Chromosome 5q12 deletion syndrome 0 trials
  • Chromosome 6pter-p24 deletion syndrome 0 trials
  • Chromosome 8q21.11 deletion syndrome 0 trials
  • Chromosome Xp11.23-p11.22 duplication syndrome 0 trials
  • Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials Sub-types →
  • Cleft palate-short stature-vertebral anomalies syndrome 0 trials
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 trials
  • Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 0 trials
  • Complex cortical dysplasia with other brain malformations 7 0 trials
  • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 trials
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
  • Congenital heart defect-round face-developmental delay syndrome 0 trials
  • Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
  • Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
  • Cono-spondylar dysplasia 0 trials
  • Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 0 trials
  • Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
  • Craniodigital syndrome-intellectual disability syndrome 0 trials
  • Craniofaciofrontodigital syndrome 0 trials
  • Cryptorchidism-arachnodactyly-intellectual disability syndrome 0 trials
  • Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
  • Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 0 trials
  • Developmental and epileptic encephalopathy, 18 0 trials
  • Developmental and epileptic encephalopathy, 23 0 trials
  • Developmental and epileptic encephalopathy, 73 0 trials
  • Distal 17p13.1 microdeletion syndrome 0 trials
  • Dysmorphism-short stature-deafness-disorder of sex development syndrome 0 trials
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 trials
  • Epilepsy-microcephaly-skeletal dysplasia syndrome 0 trials
  • Epilepsy-telangiectasia syndrome 0 trials
  • Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
  • Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome 0 trials
  • Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
  • Facial dysmorphism-shawl scrotum-joint laxity syndrome 0 trials
  • Faciocardiorenal syndrome 0 trials
  • Fallot complex-intellectual disability-growth delay syndrome 0 trials
  • Fountain syndrome 0 trials
  • Genitopatellar syndrome 0 trials
  • Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
  • Hirsutism-skeletal dysplasia-intellectual disability syndrome 0 trials
  • Holoprosencephaly 0 trials Sub-types →
  • Holoprosencephaly-postaxial polydactyly syndrome 0 trials
  • Holoprosencephaly-radial heart renal anomalies syndrome 0 trials
  • Hypertelorism, microtia, facial clefting syndrome 0 trials
  • Hypomyelinating leukodystrophy 10 0 trials
  • Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
  • Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
  • Hypotonia, ataxia, and delayed development syndrome 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials Sub-types →
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
  • Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
  • Intellectual disability, Buenos-Aires type 0 trials
  • Intellectual disability, Wolff type 0 trials
  • Intellectual disability, X-linked, syndromic 33 0 trials
  • Intellectual disability, autosomal dominant 47 0 trials
  • Intellectual disability, autosomal dominant 48 0 trials
  • Intellectual disability-balding-patella luxation-acromicria syndrome 0 trials
  • Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
  • Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 0 trials
  • Intellectual disability-early-onset cataract-microcephaly syndrome 0 trials
  • Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome 0 trials
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
  • Intellectual disability-facial dysmorphism-hand anomalies syndrome 0 trials
  • Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 0 trials
  • Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 0 trials
  • Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 0 trials
  • Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 0 trials
  • Intellectual disability-polydactyly-uncombable hair syndrome 0 trials
  • Intellectual disability-seizures-macrocephaly-obesity syndrome 0 trials
  • Intellectual disability-short stature-hypertelorism syndrome 0 trials
  • Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
  • Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
  • Lethal multiple pterygium syndrome 0 trials Sub-types →
  • Lethal omphalocele-cleft palate syndrome 0 trials
  • Macrocephaly-developmental delay syndrome 0 trials
  • Macrocephaly-short stature-paraplegia syndrome 0 trials
  • Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
  • Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 0 trials
  • Mandibulofacial dysostosis-microcephaly syndrome 0 trials
  • Marfanoid habitus-autosomal recessive intellectual disability syndrome 0 trials
  • Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 0 trials
  • Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 0 trials
  • Microbrachycephaly-ptosis-cleft lip syndrome 0 trials
  • Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
  • Microcephaly-cardiomyopathy syndrome 0 trials
  • Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 0 trials
  • Microcephaly-cervical spine fusion anomalies syndrome 0 trials
  • Microcephaly-cleft palate syndrome 0 trials
  • Microcephaly-deafness-intellectual disability syndrome 0 trials
  • Microcephaly-glomerulonephritis-marfanoid habitus syndrome 0 trials
  • Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 0 trials
  • Microcephaly-microcornea syndrome, Seemanova type 0 trials
  • Microcephaly-seizures-intellectual disability-heart disease syndrome 0 trials
  • Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome 0 trials
  • Microcephaly-thin corpus callosum-intellectual disability syndrome 0 trials
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
  • Microtriplication 11q24.1 0 trials
  • Mucopolysaccharidosis-plus syndrome 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 0 trials Sub-types →
  • Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 0 trials
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials Sub-types →
  • Neuroectodermal-endocrine syndrome 0 trials
  • Neurofaciodigitorenal syndrome 0 trials
  • Oculo-palato-cerebral syndrome 0 trials
  • Oculocerebrodental syndrome 0 trials
  • Oculocerebrofacial syndrome, Kaufman type 0 trials
  • Omphalocele syndrome, Shprintzen-Goldberg type 0 trials
  • Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 0 trials
  • Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
  • Orofaciodigital syndrome type 14 0 trials
  • Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 0 trials
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 trials
  • Pancreatic agenesis-holoprosencephaly syndrome 0 trials
  • Preaxial polydactyly-colobomata-intellectual disability syndrome 0 trials
  • Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
  • Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0 trials
  • Prominent glabella-microcephaly-hypogenitalism syndrome 0 trials
  • Pseudoprogeria syndrome 0 trials
  • Pterygium colli-intellectual disability-digital anomalies syndrome 0 trials
  • Ptosis-syndactyly-learning difficulties syndrome 0 trials
  • Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
  • Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome 0 trials
  • Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 trials
  • Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
  • Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 0 trials
  • Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 trials
  • Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
  • Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
  • Short stature-webbed neck-heart disease syndrome 0 trials
  • Short ulna-dysmorphism-hypotonia-intellectual disability syndrome 0 trials
  • Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 0 trials
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
  • Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
  • Syndromic X-linked intellectual disability 34 0 trials
  • Syndromic X-linked intellectual disability 7 0 trials
  • Syndromic X-linked intellectual disability Abidi type 0 trials
  • Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
  • Syndromic X-linked intellectual disability Shashi type 0 trials
  • Syndromic X-linked intellectual disability Siderius type 0 trials
  • Syndromic multisystem autoimmune disease due to ITCH deficiency 0 trials
  • Tall stature-intellectual disability-renal anomalies syndrome 0 trials
  • Telecanthus-hypertelorism-strabismus-pes cavus syndrome 0 trials
  • Temtamy syndrome 0 trials
  • Transketolase deficiency 0 trials
  • Upper limb defect-eye and ear abnormalities syndrome 0 trials
  • Urban-Rogers-Meyer syndrome 0 trials
  • Uveal coloboma-cleft lip and palate-intellectual disability 0 trials
  • Van Maldergem syndrome 0 trials Sub-types →
  • Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 0 trials
• Multiple congenital anomalies due to 14q32.2 imprinting defect 0 trials · 2 incl. sub-types
  2 sub-types

  • Multiple congenital anomalies due to 14q32.2 paternally expressed gene defect 2 trials
  • Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 0 trials · 1 incl. sub-types Sub-types →
• NR2F2 related multiple congenital anomalies/dysmorphic syndrome 0 trials