Agent Commons Collaborative Research

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

rare
Identifiers
MONDO:0015159 Orphanet:102283
Part of
Multiple congenital anomalies/dysmorphic syndrome
Also known as
MCA/MR · multiple congenital anomalies-intellectual disability with or without dysmorphism

Subtypes

All diseases Rare only
Disease Subtypes
  1. Holoprosencephaly MONDO:0016296 20
  2. Coffin-Siris syndrome MONDO:0015452 12
  3. Blepharophimosis - intellectual disability syndrome MONDO:0017393 7
  4. Cornelia de Lange syndrome MONDO:0016033 6
  5. Kleefstra syndrome MONDO:0012455 4
  6. Pitt-Hopkins or Pitt-Hopkins-like syndrome MONDO:0980732 4
  7. Ritscher-Schinzel syndrome MONDO:0019078 4
  8. Rubinstein-Taybi syndrome MONDO:0019188 4
  9. Warburg micro syndrome MONDO:0016649 4
  10. Cardiofaciocutaneous syndrome MONDO:0015280 4
  11. Multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0100247 4
  12. 3MC syndrome MONDO:0017398 3
  13. Hennekam syndrome MONDO:0016256 3
  14. Neu-Laxova syndrome MONDO:0000179 3
  15. Hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0014176 3
  16. Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0016779 3
  17. 15q overgrowth syndrome MONDO:0017806 2
  18. Baraitser-Winter cerebrofrontofacial syndrome MONDO:0017579 2
  19. DYRK1A-related intellectual disability syndrome MONDO:0013578 DYRK1A 2
  20. DeSanto-Shinawi syndrome MONDO:0018760 2
  21. Kabuki syndrome MONDO:0016512 2
  22. Koolen-de Vries syndrome MONDO:0012496 KANSL1 2
  23. Mowat-Wilson syndrome MONDO:0009341 ZEB2 2
  24. PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:1060108 2
  25. Chromosome 19q13.11 deletion syndrome MONDO:0013090 2
  26. Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0018681 2
  27. Syndromic X-linked intellectual disability Lubs type MONDO:0010283 MECP2 2
  28. Van Maldergem syndrome MONDO:0017813 2
  29. Opitz G/BBB syndrome MONDO:0017138 1
  30. SIN3A-related intellectual disability syndrome MONDO:0044699 SIN3A 1
  31. SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859000 1
  32. Cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0958091 1
  33. Lethal multiple pterygium syndrome MONDO:0009668 1
  34. 10p13-p14 deletion syndrome MONDO:0975905
  35. 11p15.4 microduplication syndrome MONDO:0017580
  36. 11q22.2q22.3 microdeletion syndrome MONDO:0018632
  37. 13q12.3 microdeletion syndrome MONDO:0018474
  38. 14q24.1q24.3 microdeletion syndrome MONDO:0018429
  39. 16p12.1p12.3 triplication syndrome MONDO:0044621
  40. 19p13.3 microduplication syndrome MONDO:0018658
  41. 1p35.2 microdeletion syndrome MONDO:0018697
  42. 20p13 microdeletion syndrome MONDO:0017780
  43. 20q11.2 microdeletion syndrome MONDO:0018633
  44. 20q11.2 microduplication syndrome MONDO:0018204
  45. 2p13.2 microdeletion syndrome MONDO:0018207
  46. 2q13 microdeletion syndrome MONDO:0975887
  47. 3q26q28 deletion syndrome MONDO:0979291
  48. 3q27.3 microdeletion syndrome MONDO:0018341
  49. 5q14.3 microdeletion syndrome MONDO:0016456
  50. 7p22.1 microduplication syndrome MONDO:0017792
  51. 8q24.3 microdeletion syndrome MONDO:0014263 PUF60
  52. 9q31.1q31.3 microdeletion syndrome MONDO:0018428
  53. 9q33.3q34.11 microdeletion syndrome MONDO:0044641
  54. ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:0014379 ADNP
  55. AICA-ribosiduria MONDO:0012099 ATIC
  56. Ayme-Gripp syndrome MONDO:0010992 MAF
  57. Bannayan-Riley-Ruvalcaba syndrome MONDO:0007924 PTEN
  58. Baralle-Macken syndrome MONDO:0031002 COPB1
  59. Biemond syndrome type 2 MONDO:0008864
  60. Bohring-Opitz syndrome MONDO:0011510 ASXL1
  61. Bonnemann-Meinecke-Reich syndrome MONDO:0009167
  62. Bowen-Conradi syndrome MONDO:0008879 EMG1
  63. C syndrome MONDO:0008893 CD96
  64. CHIME syndrome MONDO:0010221 PIGL
  65. CTCF-related neurodevelopmental disorder MONDO:0014213 CTCF
  66. Catel-Manzke syndrome MONDO:0014507 TGDS
  67. Cohen syndrome MONDO:0008999 VPS13B
  68. Costello syndrome MONDO:0009026 HRAS
  69. Dubowitz syndrome MONDO:0009124
  70. Elsahy-Waters syndrome MONDO:0008885 CDH11
  71. FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:0018443
  72. Filippi syndrome MONDO:0010092 CKAP2L
  73. Fine-Lubinsky syndrome MONDO:0011049
  74. Floating-Harbor syndrome MONDO:0007621 SRCAP
  75. Fryns syndrome MONDO:0009253
  76. GAPO syndrome MONDO:0009263 ANTXR1
  77. Gabriele de Vries syndrome MONDO:0044738 YY1
  78. Goldberg-Shprintzen syndrome MONDO:0012280 KIFBP
  79. Hall-Riggs syndrome MONDO:0009320
  80. Harrod syndrome MONDO:0010993
  81. Hartsfield-Bixler-Demyer syndrome MONDO:0014196 FGFR1
  82. Hernández-Aguirre Negrete syndrome MONDO:0016290
  83. Houge-Janssens syndrome 1 MONDO:0014602 PPP2R5D
  84. Houge-Janssens syndrome 2 MONDO:0014605 PPP2R1A
  85. Jawad syndrome MONDO:0009622 RBBP8
  86. Johanson-Blizzard syndrome MONDO:0009479 UBR1
  87. Johnson neuroectodermal syndrome MONDO:0007837
  88. KAT6B-related multiple congenital anomalies syndrome MONDO:0036042
  89. KBG syndrome MONDO:0007846 ANKRD11
  90. KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0858999
  91. Kapur-Toriello syndrome MONDO:0009483
  92. Keutel syndrome MONDO:0009495 MGP
  93. Lambert syndrome MONDO:0009507
  94. Laurence-Moon syndrome MONDO:0009514 PNPLA6
  95. Lenz-Majewski hyperostotic dwarfism MONDO:0007892 PTDSS1
  96. Lowry-MacLean syndrome MONDO:0010851
  97. MMEP syndrome MONDO:0011045
  98. Marden-Walker syndrome MONDO:0009564 PIEZO2
  99. Martsolf syndrome 1 MONDO:8000008 RAB3GAP2
  100. McDonough syndrome MONDO:0009570
  101. Myhre syndrome MONDO:0007688 SMAD4
  102. N syndrome MONDO:0010686
  103. Oliver syndrome MONDO:0009777
  104. PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0035133 PHIP
  105. PRC-2 complex-related overgrowth spectrum MONDO:0971047
  106. Peters plus syndrome MONDO:0009856 B3GLCT
  107. Pfeiffer-Palm-Teller syndrome MONDO:0009858
  108. Pierpont syndrome MONDO:0011213 TBL1XR1
  109. Pilarowski-Bjornsson syndrome MONDO:0060568 CHD1
  110. Ramos-Arroyo syndrome MONDO:0007382
  111. SLC39A8-CDG MONDO:0014746 SLC39A8
  112. SSR4-congenital disorder of glycosylation MONDO:0010490 SSR4
  113. Say-Barber-Miller syndrome MONDO:0009620
  114. Schuurs-Hoeijmakers syndrome MONDO:0014006 PACS1
  115. Shprintzen-Goldberg syndrome MONDO:0008426 SKI
  116. Skraban-Deardorff syndrome MONDO:0054636 WDR26
  117. Smith-Lemli-Opitz syndrome MONDO:0010035 DHCR7
  118. Smith-Magenis syndrome MONDO:0008434 RAI1
  119. Stimmler syndrome MONDO:0008743
  120. Stromme syndrome MONDO:0009477 CENPF
  121. TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0014848 TELO2
  122. THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:0013362 THOC6
  123. Takenouchi-Kosaki syndrome MONDO:0014757 CDC42
  124. Tatton-Brown-Rahman overgrowth syndrome MONDO:0014382 DNMT3A
  125. Ulbright-Hodes syndrome MONDO:0009963
  126. Weaver syndrome MONDO:0010193 EZH2
  127. Weaver-Williams syndrome MONDO:0018095
  128. Wiedemann-Rautenstrauch syndrome MONDO:0009910
  129. Wiedemann-Steiner syndrome MONDO:0011518 KMT2A
  130. Wolf-Hirschhorn syndrome MONDO:0008684
  131. X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0010485 HMGB3
  132. X-linked intellectual disability with marfanoid habitus MONDO:0010655
  133. X-linked intellectual disability, Cabezas type MONDO:0010306 CUL4B
  134. X-linked intellectual disability, Pai type MONDO:0019420
  135. X-linked intellectual disability, Stevenson type MONDO:0019422
  136. X-linked intellectual disability, Stoll type MONDO:0019423
  137. X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0018724
  138. X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:0010332
  139. X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:0019418
  140. X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:0019416
  141. X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0017614
  142. X-linked intellectual disability-plagiocephaly syndrome MONDO:0010237
  143. X-linked intellectual disability-short stature-overweight syndrome MONDO:0010496 THOC2
  144. XYLT1-congenital disorder of glycosylation MONDO:0018273
  145. Xp22.13p22.2 duplication syndrome MONDO:0017284
  146. ZTTK syndrome MONDO:0014936 SON
  147. Zechi-Ceide syndrome MONDO:0013036
  148. Acrocallosal syndrome MONDO:0008708
  149. Acrocardiofacial syndrome MONDO:0010890
  150. Acrofacial dysostosis Rodriguez type MONDO:0008714
  151. Acrofacial dysostosis, Catania type MONDO:0007045
  152. Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0012508
  153. Agnathia-otocephaly complex MONDO:0008740 PRRX1
  154. Anencephaly 1 MONDO:0008791 TRIM36
  155. Aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0008796
  156. Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:0007143
  157. Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:0017934
  158. Arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0015234
  159. Ataxia-photosensitivity-short stature syndrome MONDO:0015248
  160. Autism spectrum disorder due to AUTS2 deficiency MONDO:0014361 AUTS2
  161. Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0014558 KAT6A
  162. Autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 SNX14
  163. Bird headed-dwarfism, Montreal type MONDO:0008870
  164. Blepharonasofacial malformation syndrome MONDO:0007200
  165. Brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO:0015259
  166. Brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:0007226
  167. Brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0019153
  168. Camptodactyly syndrome, Guadalajara type 3 MONDO:0012759
  169. Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0008900
  170. Cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0014773 MED13L
  171. Cardiocranial syndrome, Pfeiffer type MONDO:0009036
  172. Cataract-deafness-hypogonadism syndrome MONDO:0015325
  173. Cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0015324
  174. Caudal appendage-deafness syndrome MONDO:0015233
  175. Cerebellar-facial-dental syndrome MONDO:0014529 BRF1
  176. Cerebrooculonasal syndrome MONDO:0011575
  177. Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0044701 UBTF
  178. Chromosome 15q13.3 microdeletion syndrome MONDO:0012774
  179. Chromosome 15q24 deletion syndrome MONDO:0013256 SIN3A
  180. Chromosome 16q22 deletion syndrome MONDO:0013798
  181. Chromosome 17p13.3 duplication syndrome MONDO:0013182
  182. Chromosome 17q21.31 duplication syndrome MONDO:0013298
  183. Chromosome 19p13.13 deletion syndrome MONDO:0013336
  184. Chromosome 5p13 duplication syndrome MONDO:0013169
  185. Chromosome 5q12 deletion syndrome MONDO:0014298
  186. Chromosome 6pter-p24 deletion syndrome MONDO:0012948
  187. Chromosome 8q21.11 deletion syndrome MONDO:0013646
  188. Chromosome Xp11.23-p11.22 duplication syndrome MONDO:0010428
  189. Cleft palate-short stature-vertebral anomalies syndrome MONDO:0016065
  190. Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0014609 AFF4
  191. Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0011145
  192. Complex cortical dysplasia with other brain malformations 7 MONDO:0012399 TUBB2B
  193. Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643 MED25
  194. Congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402 CTDP1
  195. Congenital heart defect-round face-developmental delay syndrome MONDO:0010039
  196. Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0044643
  197. Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0033683 MYSM1
  198. Cono-spondylar dysplasia MONDO:0018490
  199. Corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0018725
  200. Cortical blindness-intellectual disability-polydactyly syndrome MONDO:0009024
  201. Craniodigital syndrome-intellectual disability syndrome MONDO:0015463
  202. Craniofaciofrontodigital syndrome MONDO:0007259
  203. Creatine transporter deficiency MONDO:0010305 SLC6A8
  204. Cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0015473
  205. Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0017920
  206. Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0008445
  207. Developmental and epileptic encephalopathy, 18 MONDO:0014201 SZT2
  208. Developmental and epileptic encephalopathy, 23 MONDO:0014371 DOCK7
  209. Developmental and epileptic encephalopathy, 73 MONDO:0034106 RNF13
  210. Distal 17p13.1 microdeletion syndrome MONDO:0017867
  211. Dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0016433
  212. Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0044646 TBCD
  213. Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0044696 TRAPPC12
  214. Epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:0011048
  215. Epilepsy-telangiectasia syndrome MONDO:0009188
  216. Epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO:0015941
  217. Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0007588
  218. Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0009074
  219. Facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:0015781
  220. Faciocardiorenal syndrome MONDO:0009205
  221. Fallot complex-intellectual disability-growth delay syndrome MONDO:0010999
  222. Fountain syndrome MONDO:0009241
  223. Genitopatellar syndrome MONDO:0011640 KAT6B
  224. Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0018822
  225. Glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0060627 GPAA1
  226. Hirsutism-skeletal dysplasia-intellectual disability syndrome MONDO:0007724
  227. Holoprosencephaly-postaxial polydactyly syndrome MONDO:0009921
  228. Holoprosencephaly-radial heart renal anomalies syndrome MONDO:0008488
  229. Hypertelorism, microtia, facial clefting syndrome MONDO:0009404
  230. Hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426 TBCE
  231. Hypospadias-intellectual disability, Goldblatt type syndrome MONDO:0009435
  232. Hypotonia, ataxia, and delayed development syndrome MONDO:0015021 EBF3
  233. Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0044319 OTUD6B
  234. Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MONDO:0044318 PPM1D
  235. Intellectual disability, Buenos-Aires type MONDO:0009584
  236. Intellectual disability, Wolff type MONDO:0010203
  237. Intellectual disability, X-linked, syndromic 33 MONDO:0010500 TAF1
  238. Intellectual disability, autosomal dominant 47 MONDO:0030912 STAG1
  239. Intellectual disability, autosomal dominant 48 MONDO:0030913 RAC1
  240. Intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0010505
  241. Intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0012095
  242. Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0009581
  243. Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome MONDO:0975882
  244. Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 SETD5
  245. Intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:0018253
  246. Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0015458
  247. Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:0017805
  248. Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0014606 POGZ
  249. Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0018711
  250. Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0011722
  251. Intellectual disability-polydactyly-uncombable hair syndrome MONDO:0017682
  252. Intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0018248
  253. Intellectual disability-short stature-hypertelorism syndrome MONDO:0017668
  254. Intellectual disability-sparse hair-brachydactyly syndrome MONDO:0011053 SMARCA2
  255. Intellectual disability-spasticity-ectrodactyly syndrome MONDO:0009524
  256. Lethal omphalocele-cleft palate syndrome MONDO:0009780
  257. Leukodystrophy, hypomyelinating, 10 MONDO:0014632 PYCR2
  258. Macrocephaly-developmental delay syndrome MONDO:0014289 KPTN
  259. Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:0014716 MTOR
  260. Macrocephaly-short stature-paraplegia syndrome MONDO:0016571
  261. Macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0010858
  262. Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0010617
  263. Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 EFTUD2
  264. Marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:0009566
  265. Megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:0018710
  266. Mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:0858998
  267. Microbrachycephaly-ptosis-cleft lip syndrome MONDO:0010007
  268. Microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0018091
  269. Microcephaly-cardiomyopathy syndrome MONDO:0009618
  270. Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0013735
  271. Microcephaly-cervical spine fusion anomalies syndrome MONDO:0009621
  272. Microcephaly-cleft palate syndrome MONDO:0016750
  273. Microcephaly-deafness-intellectual disability syndrome MONDO:0007991
  274. Microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO:0009565
  275. Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome MONDO:0014096
  276. Microcephaly-microcornea syndrome, Seemanova type MONDO:0016760
  277. Microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0016719
  278. Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0018494
  279. Microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0014273 TAF2
  280. Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:0014892 TRIO
  281. Microtriplication 11q24.1 MONDO:0017335
  282. Mucopolysaccharidosis-plus syndrome MONDO:0015012 VPS33A
  283. Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:0017932
  284. Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0060502 PLAA
  285. Neuroectodermal-endocrine syndrome MONDO:0017045
  286. Neurofaciodigitorenal syndrome MONDO:0009740
  287. Oculo-palato-cerebral syndrome MONDO:0009769
  288. Oculocerebrodental syndrome MONDO:0034145 PIK3C2A
  289. Oculocerebrofacial syndrome, Kaufman type MONDO:0009485 UBE3B
  290. Omphalocele syndrome, Shprintzen-Goldberg type MONDO:0008425
  291. Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:0008130
  292. Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0971064
  293. Orofaciodigital syndrome type 14 MONDO:0014413 C2CD3
  294. Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome MONDO:0019603
  295. Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0014751 KDM1A
  296. Pancreatic agenesis-holoprosencephaly syndrome MONDO:0034142
  297. Preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:0017377
  298. Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0971138
  299. Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0014748 RSPRY1
  300. Prominent glabella-microcephaly-hypogenitalism syndrome MONDO:0009543
  301. Pseudoaminopterin syndrome MONDO:0010865
  302. Pseudoprogeria syndrome MONDO:0008694
  303. Pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0010835
  304. Ptosis-syndactyly-learning difficulties syndrome MONDO:0016560
  305. Radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0009952
  306. Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0971137
  307. Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0014205 ASXL3
  308. Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:0014886 PUS3
  309. Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0014787 FRMD4A
  310. Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:0019786
  311. Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0018572
  312. Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0014034 GATAD2B
  313. Severe intellectual disability-progressive spastic diplegia syndrome MONDO:0014035
  314. Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:0014238 TTI2
  315. Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:0015252
  316. Short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0014944 PRMT7
  317. Short stature-webbed neck-heart disease syndrome MONDO:0017315
  318. Short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:0014067
  319. Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0033682 EXTL3
  320. Spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0014764 HACE1
  321. Spondylocostal dysostosis-hypospadias-intellectual disability syndrome MONDO:0017995
  322. Syndromic X-linked intellectual disability 34 MONDO:0010501 NONO
  323. Syndromic X-linked intellectual disability 5 MONDO:0010574 AP1S2
  324. Syndromic X-linked intellectual disability 7 MONDO:0010270
  325. Syndromic X-linked intellectual disability Abidi type MONDO:0010285
  326. Syndromic X-linked intellectual disability Claes-Jensen type MONDO:0010355 KDM5C
  327. Syndromic X-linked intellectual disability Shashi type MONDO:0010277 RBMX
  328. Syndromic X-linked intellectual disability Siderius type MONDO:0010286 PHF8
  329. Syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0013245 ITCH
  330. Tall stature-intellectual disability-renal anomalies syndrome MONDO:0014918 FIBP
  331. Telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0017997
  332. Temtamy syndrome MONDO:0009033 C12orf57
  333. Transketolase deficiency MONDO:0014881 TKT
  334. Trichorhinophalangeal syndrome type II MONDO:0007874
  335. Upper limb defect-eye and ear abnormalities syndrome MONDO:0010125
  336. Urban-Rogers-Meyer syndrome MONDO:0009905
  337. Uveal coloboma-cleft lip and palate-intellectual disability MONDO:0007355 YAP1
  338. Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0019133

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.