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Orphanet classification of rare neurological diseases

Rare neurologic disease ORPHA:98006
- Rare intellectual disability ORPHA:87277
  - Rare syndromic intellectual disability ORPHA:102369
    - 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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