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Orphanet classification of rare developmental anomalies during embryogenesis

Rare developmental defect during embryogenesis ORPHA:93890
- Multiple congenital anomalies/dysmorphic syndrome ORPHA:68341
  - Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:102283
    - 11p15.4 microduplication syndrome ORPHA:300305
    - 11q22.2q22.3 microdeletion syndrome ORPHA:444002
    - 12q14 microdeletion syndrome ORPHA:94063
    - 13q12.3 microdeletion syndrome ORPHA:412035
    - 14q24.1q24.3 microdeletion syndrome ORPHA:401935
    - 15q13.3 microdeletion syndrome ORPHA:199318
    - 15q overgrowth syndrome ORPHA:314585
    - 16p12.1p12.3 triplication syndrome ORPHA:485405
    - 17p11.2 microduplication syndrome ORPHA:1713
    - 17p13.3 microduplication syndrome ORPHA:217385
    - 17q11.2 microduplication syndrome ORPHA:139474
    - 17q21.31 microduplication syndrome ORPHA:217340
    - 17q24.2 microdeletion syndrome ORPHA:529962
    - 19p13.13 microdeletion syndrome ORPHA:357001
    - 19p13.3 microduplication syndrome ORPHA:447980
    - 19q13.11 microdeletion syndrome ORPHA:217346
    - 1p31p32 microdeletion syndrome ORPHA:401986
    - 1p35.2 microdeletion syndrome ORPHA:456298
    - 20p13 microdeletion syndrome ORPHA:313781
    - 20q11.2 microdeletion syndrome ORPHA:444051
    - 20q11.2 microduplication syndrome ORPHA:363659
    - 21q22.11q22.12 microdeletion syndrome ORPHA:261323
    - 22q11.2 deletion syndrome ORPHA:567
    - 2p13.2 microdeletion syndrome ORPHA:363680
    - 2q23.1 microdeletion syndrome ORPHA:228402
    - 2q23.1 microduplication syndrome ORPHA:313947
    - 2q32q33 microdeletion syndrome ORPHA:251019
    - 2q37 microdeletion syndrome ORPHA:1001
    - 3C syndrome ORPHA:7
    - 3MC syndrome ORPHA:293843
    - 3q27.3 microdeletion syndrome ORPHA:397695
    - 48,XXXY syndrome ORPHA:96263
    - 48,XXYY syndrome ORPHA:10
    - 48,XYYY syndrome ORPHA:99329
    - 49,XXXXY syndrome ORPHA:96264
    - 4q25 proximal deletion syndrome ORPHA:502437
    - 5p13 microduplication syndrome ORPHA:329802
    - 5q14.3 microdeletion syndrome ORPHA:228384
    - 7p22.1 microduplication syndrome ORPHA:314034
    - 8q21.11 microdeletion syndrome ORPHA:284160
    - 8q24.3 microdeletion syndrome ORPHA:508488
    - 9p13 microdeletion syndrome ORPHA:324313
    - 9q31.1q31.3 microdeletion syndrome ORPHA:401923
    - 9q33.3q34.11 microdeletion syndrome ORPHA:495818
    - Aarskog-Scott syndrome ORPHA:915
    - Ablepharon macrostomia syndrome ORPHA:920
    - Acrocallosal syndrome ORPHA:36
    - Acrocardiofacial syndrome ORPHA:2008
    - Acrofacial dysostosis, Catania type ORPHA:1786
    - Acrofacial dysostosis, Rodríguez type ORPHA:1788
    - Acromelic frontonasal dysplasia ORPHA:1827
    - Adams-Oliver syndrome ORPHA:974
    - ADNP syndrome ORPHA:404448
    - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
    - Agnathia-holoprosencephaly-situs inversus syndrome ORPHA:990
    - AICA-ribosiduria ORPHA:250977
    - Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
    - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
    - Alpha-thalassemia-X-linked intellectual disability syndrome ORPHA:847
    - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
    - Angelman syndrome ORPHA:72
    - Aniridia-intellectual disability syndrome ORPHA:1068
    - Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
    - Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
    - Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
    - Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
    - Antley-Bixler syndrome ORPHA:83
    - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110
    - Apert syndrome ORPHA:87
    - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome ORPHA:324540
    - Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
    - Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130
    - ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
    - Ataxia-photosensitivity-short stature syndrome ORPHA:1184
    - Atelosteogenesis type II ORPHA:56304
    - Atelosteogenesis type III ORPHA:56305
    - Atkin-Flaitz syndrome ORPHA:1193
    - Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490
    - Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
    - Autosomal dominant popliteal pterygium syndrome ORPHA:1300
    - Autosomal dominant primary microcephaly ORPHA:2514
    - Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
    - Autosomal recessive distal osteolysis syndrome ORPHA:2776
    - Autosomal recessive primary microcephaly ORPHA:2512
    - Aymé-Gripp syndrome ORPHA:1272
    - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
    - Bainbridge-Ropers syndrome ORPHA:352577
    - Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
    - Bardet-Biedl syndrome ORPHA:110
    - Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
    - Biemond syndrome type 2 ORPHA:141333
    - Blepharonasofacial malformation syndrome ORPHA:1252
    - Blepharophimosis-intellectual disability syndrome ORPHA:293642
    - Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
    - Bohring-Opitz syndrome ORPHA:97297
    - Bonnemann-Meinecke-Reich syndrome ORPHA:1261
    - Borjeson-Forssman-Lehmann syndrome ORPHA:127
    - Bosley-Salih-Alorainy syndrome ORPHA:69737
    - Bowen-Conradi syndrome ORPHA:1270
    - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277
    - Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
    - Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
    - Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
    - Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
    - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
    - Branchiogenic deafness syndrome ORPHA:50815
    - Branchioskeletogenital syndrome ORPHA:1299
    - BRESEK syndrome ORPHA:85284
    - CAMOS syndrome ORPHA:83472
    - Campomelia, Cumming type ORPHA:1318
    - Campomelic dysplasia ORPHA:140
    - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
    - Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
    - Cantú syndrome ORPHA:1517
    - Cardiocranial syndrome, Pfeiffer type ORPHA:2872
    - Cardiofaciocutaneous syndrome ORPHA:1340
    - Carey-Fineman-Ziter syndrome ORPHA:1358
    - Carpenter syndrome ORPHA:65759
    - Cataract-deafness-hypogonadism syndrome ORPHA:1383
    - Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
    - Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
    - Catel-Manzke syndrome ORPHA:1388
    - Caudal appendage-deafness syndrome ORPHA:1123
    - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome ORPHA:600668
    - Cerebellar-facial-dental syndrome ORPHA:444072
    - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
    - Cerebrocostomandibular syndrome ORPHA:1393
    - Cerebrofacioarticular syndrome ORPHA:314679
    - Cerebrofaciothoracic dysplasia ORPHA:1394
    - Cerebrooculonasal syndrome ORPHA:66625
    - CHARGE syndrome ORPHA:138
    - Char syndrome ORPHA:46627
    - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome ORPHA:599082
    - CHIME syndrome ORPHA:3474
    - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
    - Christianson syndrome ORPHA:85278
    - Clark-Baraitser syndrome ORPHA:600731
    - Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
    - Cockayne syndrome ORPHA:191
    - CODAS syndrome ORPHA:1458
    - Coffin-Lowry syndrome ORPHA:192
    - Coffin-Siris syndrome ORPHA:1465
    - COG7-CDG ORPHA:79333
    - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
    - Cohen syndrome ORPHA:193
    - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
    - Combined immunodeficiency with faciooculoskeletal anomalies ORPHA:221139
    - Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
    - Congenital generalized lipodystrophy ORPHA:528
    - Congenital heart defect-round face-developmental delay syndrome ORPHA:1355
    - Congenital intrauterine infection-like syndrome ORPHA:1229
    - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
    - Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
    - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
    - Cono-spondylar dysplasia ORPHA:420794
    - Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
    - Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
    - Cooper-Jabs syndrome ORPHA:1488
    - Cornelia de Lange syndrome ORPHA:199
    - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
    - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
    - Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
    - Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
    - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
    - Costello syndrome ORPHA:3071
    - Crane-Heise syndrome ORPHA:1512
    - Craniodigital-intellectual disability syndrome ORPHA:1514
    - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
    - Craniofaciofrontodigital syndrome ORPHA:363705
    - Craniofrontonasal dysplasia ORPHA:1520
    - Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
    - Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
    - C syndrome ORPHA:1308
    - CTCF-related neurodevelopmental disorder ORPHA:363611
    - Curry-Jones syndrome ORPHA:1553
    - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
    - Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
    - Deafness-onychodystrophy syndrome ORPHA:3231
    - De Barsy syndrome ORPHA:2962
    - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
    - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
    - Desmosterolosis ORPHA:35107
    - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
    - Disorder of sex development-intellectual disability syndrome ORPHA:2983
    - Distal 17p13.1 microdeletion syndrome ORPHA:319171
    - Distal limb deficiencies-micrognathia syndrome ORPHA:1307
    - Distal monosomy 1q ORPHA:36367
    - Distal monosomy 6p ORPHA:96125
    - Donnai-Barrow syndrome ORPHA:2143
    - Down syndrome ORPHA:870
    - Dubowitz syndrome ORPHA:235
    - Dyggve-Melchior-Clausen disease ORPHA:239
    - DYRK1A-related intellectual disability syndrome ORPHA:464306
    - Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
    - Dysmorphism-short stature-deafness-disorder of sex development syndrome ORPHA:2282
    - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
    - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
    - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
    - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
    - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
    - Epilepsy-microcephaly-skeletal dysplasia syndrome ORPHA:1948
    - Epilepsy-telangiectasia syndrome ORPHA:1951
    - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome ORPHA:1825
    - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
    - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
    - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
    - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
    - Facial dysmorphism-shawl scrotum-joint laxity syndrome ORPHA:1778
    - Faciocardiorenal syndrome ORPHA:1973
    - Fallot complex-intellectual disability-growth delay syndrome ORPHA:3304
    - Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
    - Fanconi anemia ORPHA:84
    - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome ORPHA:404451
    - Feingold syndrome ORPHA:1305
    - FG syndrome type 1 ORPHA:93932
    - Fibrodysplasia ossificans progressiva ORPHA:337
    - Filippi syndrome ORPHA:3255
    - Floating-Harbor syndrome ORPHA:2044
    - Focal dermal hypoplasia ORPHA:2092
    - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
    - Fountain syndrome ORPHA:3219
    - Fragile X syndrome ORPHA:908
    - Fraser syndrome ORPHA:2052
    - Fried syndrome ORPHA:85335
    - Frontometaphyseal dysplasia ORPHA:1826
    - Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
    - Fryns-Smeets-Thiry syndrome ORPHA:2058
    - Fryns syndrome ORPHA:2059
    - Gabriele-de Vries syndrome ORPHA:506358
    - Galloway-Mowat syndrome ORPHA:2065
    - GAPO syndrome ORPHA:2067
    - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
    - Global developmental delay-osteopenia-ectodermal defect syndrome ORPHA:73223
    - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
    - GMS syndrome ORPHA:2090
    - Goldberg-Shprintzen megacolon syndrome ORPHA:66629
    - Gómez-López-Hernández syndrome ORPHA:1532
    - Grange syndrome ORPHA:79094
    - Greig cephalopolysyndactyly syndrome ORPHA:380
    - Grubben-de Cock-Borghgraef syndrome ORPHA:2101
    - Hallermann-Streiff-like syndrome ORPHA:2109
    - Hallermann-Streiff syndrome ORPHA:2108
    - Hall-Riggs syndrome ORPHA:2107
    - Harrod syndrome ORPHA:2115
    - Hartsfield syndrome ORPHA:2117
    - Hennekam-Beemer syndrome ORPHA:2135
    - Hennekam syndrome ORPHA:2136
    - Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
    - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome ORPHA:619233
    - Hernández-Aguirre Negrete syndrome ORPHA:2139
    - Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
    - Holoprosencephaly ORPHA:2162
    - Holoprosencephaly-postaxial polydactyly syndrome ORPHA:2166
    - Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
    - Hurler syndrome ORPHA:93473
    - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome ORPHA:2180
    - Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
    - Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
    - Hypoglossia-hypodactyly syndrome ORPHA:989
    - Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
    - Hypomandibular faciocranial dysostosis ORPHA:1790
    - Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
    - Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
    - Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
    - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
    - Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
    - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
    - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome ORPHA:529965
    - Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
    - Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
    - Intellectual disability, Buenos-Aires type ORPHA:3079
    - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
    - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
    - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
    - Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome ORPHA:329224
    - Intellectual disability-developmental delay-contractures syndrome ORPHA:3454
    - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
    - Intellectual disability-expressive aphasia-facial dysmorphism syndrome ORPHA:436151
    - Intellectual disability-facial dysmorphism-hand anomalies syndrome ORPHA:370010
    - Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ORPHA:404440
    - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
    - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome ORPHA:314575
    - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome ORPHA:457279
    - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
    - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
    - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
    - Intellectual disability-polydactyly-uncombable hair syndrome ORPHA:3082
    - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome ORPHA:513456
    - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
    - Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
    - Intellectual disability-severe speech delay-mild dysmorphism syndrome ORPHA:391372
    - Intellectual disability-short stature-hypertelorism syndrome ORPHA:3074
    - Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
    - Intellectual disability-strabismus syndrome ORPHA:363528
    - Intellectual disability, Wolff type ORPHA:3080
    - Isolated anencephaly/exencephaly ORPHA:1048
    - Isotretinoin-like syndrome ORPHA:2306
    - Jawad syndrome ORPHA:313795
    - Johanson-Blizzard syndrome ORPHA:2315
    - Johnson neuroectodermal syndrome ORPHA:2316
    - Joubert syndrome ORPHA:475
    - Joubert syndrome with hepatic defect ORPHA:1454
    - Joubert syndrome with ocular defect ORPHA:220493
    - Joubert syndrome with oculorenal defect ORPHA:2318
    - Joubert syndrome with renal defect ORPHA:220497
    - Kabuki syndrome ORPHA:2322
    - Kagami-Ogata syndrome ORPHA:254519
    - Kallmann syndrome-heart disease syndrome ORPHA:2326
    - Kapur-Toriello syndrome ORPHA:2328
    - KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
    - KBG syndrome ORPHA:2332
    - KDM5C-related syndromic X-linked intellectual disability ORPHA:85279
    - Keipert syndrome ORPHA:2662
    - Keppen-Lubinsky syndrome ORPHA:435628
    - Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
    - Keutel syndrome ORPHA:85202
    - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
    - King-Denborough syndrome ORPHA:99741
    - Kleefstra syndrome ORPHA:261494
    - KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome ORPHA:603684
    - KLHL7-related Bohring-Opitz-like syndrome ORPHA:603689
    - Koolen-De Vries syndrome ORPHA:96169
    - Lambert syndrome ORPHA:1296
    - Lamb-Shaffer syndrome ORPHA:530983
    - Lathosterolosis ORPHA:46059
    - Laurence-Moon syndrome ORPHA:2377
    - Lenz-Majewski hyperostotic dwarfism ORPHA:2658
    - Lethal omphalocele-cleft palate syndrome ORPHA:2736
    - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
    - LIG4 syndrome ORPHA:99812
    - Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
    - Lissencephaly ORPHA:48471
    - Lowry-MacLean syndrome ORPHA:2409
    - Lujan-Fryns syndrome ORPHA:776
    - Luscan-Lumish syndrome ORPHA:597738
    - Macrocephaly-developmental delay syndrome ORPHA:397612
    - Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
    - Macrocephaly-intellectual disability-left ventricular non compaction syndrome ORPHA:466791
    - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ORPHA:457485
    - Macrocephaly-short stature-paraplegia syndrome ORPHA:2427
    - Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
    - Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome ORPHA:487796
    - Malan overgrowth syndrome ORPHA:420179
    - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
    - Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
    - Marden-Walker syndrome ORPHA:2461
    - Marfanoid habitus-autosomal recessive intellectual disability syndrome ORPHA:2463
    - Marshall-Smith syndrome ORPHA:561
    - Maternal phenylketonuria ORPHA:2209
    - Matthew-Wood syndrome ORPHA:2470
    - McDonough syndrome ORPHA:2471
    - Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
    - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
    - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
    - Megalocornea-intellectual disability syndrome ORPHA:2479
    - MEHMO syndrome ORPHA:85282
    - MEND syndrome ORPHA:401973
    - Menke-Hennekam syndrome ORPHA:592574
    - Metaphyseal acroscyphodysplasia ORPHA:1240
    - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
    - Metopic ridging-ptosis-facial dysmorphism syndrome ORPHA:502430
    - Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
    - Microcephalic primordial dwarfism ORPHA:324761
    - Microcephalic primordial dwarfism, Montreal type ORPHA:2617
    - Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
    - Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
    - Microcephaly-cardiomyopathy syndrome ORPHA:2515
    - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
    - Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
    - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
    - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159
    - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
    - Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
    - Microcephaly-glomerulonephritis-marfanoid habitus syndrome ORPHA:2172
    - Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
    - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
    - Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
    - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306
    - Microcephaly-thin corpus callosum-intellectual disability syndrome ORPHA:397951
    - Microduplication Xp11.22p11.23 syndrome ORPHA:217377
    - Microgastria-limb reduction defect syndrome ORPHA:2538
    - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome ORPHA:476126
    - Microlissencephaly-micromelia syndrome ORPHA:50810
    - Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
    - Microphthalmia-brain atrophy syndrome ORPHA:77299
    - Microphthalmia, Lenz type ORPHA:568
    - Microphthalmia with brain and digit anomalies ORPHA:139471
    - Microphthalmia with limb anomalies ORPHA:1106
    - Microphthalmia with linear skin defects syndrome ORPHA:2556
    - Microtriplication 11q24.1 ORPHA:289522
    - Mietens syndrome ORPHA:2557
    - MMEP syndrome ORPHA:3434
    - Moebius syndrome ORPHA:570
    - Monosomy 22q13.3 ORPHA:48652
    - Mosaic variegated aneuploidy syndrome ORPHA:1052
    - Mowat-Wilson syndrome ORPHA:2152
    - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
    - Mucolipidosis type II ORPHA:576
    - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
    - Muenke syndrome ORPHA:53271
    - Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
    - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
    - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome ORPHA:324416
    - Myhre syndrome ORPHA:2588
    - Nance-Horan syndrome ORPHA:627
    - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
    - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
    - Neurofaciodigitorenal syndrome ORPHA:2673
    - Nicolaides-Baraitser syndrome ORPHA:3051
    - Nijmegen breakage syndrome ORPHA:647
    - Nodular neuronal heterotopia ORPHA:2149
    - Noonan syndrome ORPHA:648
    - Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
    - N syndrome ORPHA:2608
    - Occipital horn syndrome ORPHA:198
    - Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
    - Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
    - Oculocerebrodental syndrome ORPHA:557003
    - Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
    - Oculodentodigital dysplasia ORPHA:2710
    - Oculofaciocardiodental syndrome ORPHA:2712
    - Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
    - Oculo-palato-cerebral syndrome ORPHA:2714
    - Ogden syndrome ORPHA:276432
    - Okamoto syndrome ORPHA:2729
    - Oliver syndrome ORPHA:2920
    - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
    - Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
    - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
    - Opitz GBBB syndrome ORPHA:2745
    - Orofaciodigital syndrome type 1 ORPHA:2750
    - Orofaciodigital syndrome type 10 ORPHA:2756
    - Orofaciodigital syndrome type 14 ORPHA:434179
    - Orofaciodigital syndrome type 2 ORPHA:2751
    - Orofaciodigital syndrome type 3 ORPHA:2752
    - Orofaciodigital syndrome type 4 ORPHA:2753
    - Orofaciodigital syndrome type 5 ORPHA:2919
    - Orofaciodigital syndrome type 6 ORPHA:2754
    - Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
    - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
    - Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
    - Osteoporosis-pseudoglioma syndrome ORPHA:2788
    - Otofaciocervical syndrome ORPHA:2792
    - Otopalatodigital syndrome type 1 ORPHA:90650
    - Otopalatodigital syndrome type 2 ORPHA:90652
    - Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
    - Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
    - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
    - Pallister-Hall syndrome ORPHA:672
    - Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
    - Paraplegia-intellectual disability-hyperkeratosis syndrome ORPHA:2824
    - PDE4D haploinsufficiency syndrome ORPHA:439822
    - Peters plus syndrome ORPHA:709
    - Pfeiffer-Palm-Teller syndrome ORPHA:2871
    - PHACE syndrome ORPHA:42775
    - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
    - Pierpont syndrome ORPHA:487825
    - Pitt-Hopkins syndrome ORPHA:2896
    - PLAA-associated neurodevelopmental disorder ORPHA:521426
    - PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
    - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
    - Polymicrogyria ORPHA:35981
    - Polymicrogyria due to TUBB2B mutation ORPHA:300573
    - Polymicrogyria with optic nerve hypoplasia ORPHA:250972
    - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome ORPHA:2928
    - Polyvalvular heart disease syndrome ORPHA:228410
    - Pontocerebellar hypoplasia type 10 ORPHA:411493
    - Pontocerebellar hypoplasia type 11 ORPHA:611247
    - Pontocerebellar hypoplasia type 13 ORPHA:613267
    - Pontocerebellar hypoplasia type 14 ORPHA:613274
    - Pontocerebellar hypoplasia type 7 ORPHA:284339
    - Potocki-Shaffer syndrome ORPHA:52022
    - Prader-Willi-like syndrome ORPHA:398073
    - Prader-Willi syndrome ORPHA:739
    - Preaxial polydactyly-colobomata-intellectual disability syndrome ORPHA:2921
    - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
    - Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
    - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212
    - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
    - Prominent glabella-microcephaly-hypogenitalism syndrome ORPHA:2083
    - Proximal Xq28 duplication syndrome ORPHA:1762
    - PRUNE1-related neurological syndrome ORPHA:544469
    - Pseudoaminopterin syndrome ORPHA:221120
    - Pseudoprogeria syndrome ORPHA:2985
    - Pterygium colli-intellectual disability-digital anomalies syndrome ORPHA:2988
    - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ORPHA:438213
    - PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
    - Qazi-Markouizos syndrome ORPHA:3010
    - QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
    - Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
    - Ramon syndrome ORPHA:3019
    - Ramos-Arroyo syndrome ORPHA:1051
    - Renpenning syndrome ORPHA:3242
    - RERE-related neurodevelopmental syndrome ORPHA:494344
    - Restrictive dermopathy ORPHA:1662
    - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
    - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
    - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245
    - Richards-Rundle syndrome ORPHA:1399
    - Richieri Costa-da Silva syndrome ORPHA:3101
    - RIN2 syndrome ORPHA:217335
    - Ring chromosome 10 syndrome ORPHA:1438
    - RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
    - Roberts syndrome ORPHA:3103
    - Robinow syndrome ORPHA:97360
    - Roifman syndrome ORPHA:353298
    - Rubinstein-Taybi syndrome ORPHA:783
    - Ruvalcaba syndrome ORPHA:3121
    - S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
    - Sanjad-Sakati syndrome ORPHA:2323
    - SATB2-associated syndrome ORPHA:576278
    - Say-Barber-Miller syndrome ORPHA:3132
    - SCARF syndrome ORPHA:3134
    - Schinzel-Giedion syndrome ORPHA:798
    - Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
    - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
    - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627
    - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
    - Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ORPHA:94066
    - Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome ORPHA:436141
    - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ORPHA:363686
    - Severe intellectual disability-progressive spastic diplegia syndrome ORPHA:404473
    - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ORPHA:391307
    - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
    - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
    - Severe oculo-renal-cerebellar syndrome ORPHA:2715
    - Severe X-linked intellectual disability, Gustavson type ORPHA:3078
    - Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
    - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
    - Short stature-webbed neck-heart disease syndrome ORPHA:2865
    - Short stature-wormian bones-dextrocardia syndrome ORPHA:2863
    - SHORT syndrome ORPHA:3163
    - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome ORPHA:357175
    - Shprintzen-Goldberg syndrome ORPHA:2462
    - Shwachman-Diamond syndrome ORPHA:811
    - Sialidosis type 2 ORPHA:87876
    - Silver-Russell syndrome ORPHA:813
    - Simpson-Golabi-Behmel syndrome ORPHA:373
    - Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
    - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
    - SLC39A8-CDG ORPHA:468699
    - Smith-Lemli-Opitz syndrome ORPHA:818
    - Smith-Magenis syndrome ORPHA:819
    - Sotos syndrome ORPHA:821
    - Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
    - Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
    - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
    - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
    - Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
    - Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
    - Spondylo-ocular syndrome ORPHA:85194
    - SSR4-CDG ORPHA:370927
    - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome ORPHA:502434
    - Stimmler syndrome ORPHA:3199
    - Stromme syndrome ORPHA:506307
    - Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
    - Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
    - Syndromic X-linked intellectual disability 7 ORPHA:85274
    - Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
    - TARP syndrome ORPHA:2886
    - Tatton-Brown-Rahman syndrome ORPHA:404443
    - TBCK-related intellectual disability syndrome ORPHA:488632
    - Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
    - TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
    - Temple-Baraitser syndrome ORPHA:420561
    - Temple syndrome ORPHA:254516
    - Temtamy syndrome ORPHA:1777
    - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ORPHA:363444
    - Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
    - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
    - Toriello-Carey syndrome ORPHA:3338
    - Townes-Brocks syndrome ORPHA:857
    - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
    - Transketolase deficiency ORPHA:488618
    - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
    - Trichorhinophalangeal syndrome type 2 ORPHA:502
    - Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
    - Ulbright-Hodes syndrome ORPHA:3404
    - Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
    - Ulnar-mammary syndrome ORPHA:3138
    - Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
    - Urban-Rogers-Meyer syndrome ORPHA:3409
    - Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
    - VACTERL with hydrocephalus ORPHA:3412
    - Van den Bosch syndrome ORPHA:3417
    - Vici syndrome ORPHA:1493
    - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246
    - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome ORPHA:466943
    - WAGR syndrome ORPHA:893
    - Weaver syndrome ORPHA:3447
    - Weaver-Williams syndrome ORPHA:3448
    - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207
    - White-Sutton syndrome ORPHA:468678
    - Wiedemann-Rautenstrauch syndrome ORPHA:3455
    - Wiedemann-Steiner syndrome ORPHA:319182
    - Williams syndrome ORPHA:904
    - Wilson-Turner syndrome ORPHA:3459
    - Witteveen-Kolk syndrome ORPHA:500163
    - Wolcott-Rallison syndrome ORPHA:1667
    - Wolf-Hirschhorn syndrome ORPHA:280
    - W syndrome ORPHA:2804
    - X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
    - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
    - X-linked creatine transporter deficiency ORPHA:52503
    - X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
    - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
    - X-linked intellectual disability, Abidi type ORPHA:85273
    - X-linked intellectual disability-acromegaly-hyperactivity syndrome ORPHA:85327
    - X-linked intellectual disability, Armfield type ORPHA:85276
    - X-linked intellectual disability, Cabezas type ORPHA:85293
    - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
    - X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
    - X-linked intellectual disability, Cilliers type ORPHA:163971
    - X-linked intellectual disability-craniofacioskeletal syndrome ORPHA:163979
    - X-linked intellectual disability-cubitus valgus-dysmorphism syndrome ORPHA:85280
    - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
    - X-linked intellectual disability due to GRIA3 mutations ORPHA:364028
    - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome ORPHA:2958
    - X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome ORPHA:85319
    - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome ORPHA:480907
    - X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome ORPHA:85317
    - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
    - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome ORPHA:85329
    - X-linked intellectual disability-macrocephaly-macroorchidism syndrome ORPHA:85320
    - X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
    - X-linked intellectual disability, Najm type ORPHA:163937
    - X-linked intellectual disability, Nascimento type ORPHA:163956
    - X-linked intellectual disability, Pai type ORPHA:85322
    - X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
    - X-linked intellectual disability, Schimke type ORPHA:85285
    - X-linked intellectual disability, Seemanova type ORPHA:85323
    - X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
    - X-linked intellectual disability, Shashi type ORPHA:85286
    - X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
    - X-linked intellectual disability, Shrimpton type ORPHA:85324
    - X-linked intellectual disability, Siderius type ORPHA:85287
    - X-linked intellectual disability, Snyder type ORPHA:3063
    - X-linked intellectual disability, Stevenson type ORPHA:85325
    - X-linked intellectual disability, Stocco Dos Santos type ORPHA:85288
    - X-linked intellectual disability, Stoll type ORPHA:85326
    - X-linked intellectual disability, Van Esch type ORPHA:163976
    - X-linked mandibulofacial dysostosis ORPHA:1131
    - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938
    - X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
    - X-linked spinocerebellar ataxia type 3 ORPHA:85297
    - Xp22.13p22.2 duplication syndrome ORPHA:284180
    - Xq25 microduplication syndrome ORPHA:521258
    - XYLT1-CDG ORPHA:370930
    - Yunis-Varon syndrome ORPHA:3472
    - Zechi-Ceide syndrome ORPHA:217017
    - Zellweger syndrome ORPHA:912
    - Zimmermann-Laband syndrome ORPHA:3473

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