40:
188:
Associated with agenesis (absence) of the corpus callosum, intellectual disabilities are common among individuals with FG syndrome. Motor ability is also impaired as a result of FG syndrome, and it also affects the development of semen. During childhood, problems arise in the gastrointestinal and
500:
The name of the syndrome comes from the initials of the surnames of two sisters, who had five sons with the syndrome. The first study of the syndrome, published in 1974, established that it was linked to inheritance of the
123:
and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by
American geneticists
429:
There is no established clinical diagnostic criteria for FG syndrome. A healthcare professional might consider the following clinical features in an individual as indicative for further evaluation:
247:
genes. Mutations on these different genes lead to the different types of FG syndrome, all with similar characteristics. The FGS8 type mutation is the most common of the types, and is found in the
1532:
1806:
197:
contribute to roughly 60% of premature deaths in infants with FG syndrome. Septal defects are the most common. After infancy, long-term survival has been recorded beyond the age of 50.
172:; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting upper lip; and most or complete loss of the
1768:
1168:
2085:
1365:
1301:
1251:
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2141:
2005:
2041:
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1370:
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2196:
1474:
555:
2230:
2267:
2458:
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2010:
1986:
1773:
156:
FG syndrome's major clinical features include physical disability, usually mild; hyperactive behavior, often with a slow personality; severe
2186:
1921:
1565:
1442:
1390:
857:
1976:
938:
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gastroesophageal systems of the body. The most common gastrointestinal problems include constipation from an imperforate anus and
2126:
1845:
1593:
2353:
1512:
492:
Treatment for FG Syndrome is individualized to each person. It generally involves a team of specialists to manage the symptoms.
1972:
1402:
2295:
1875:
1820:
1701:
1655:
1487:
1477:
1502:
1141:
803:
Opitz JM, Smith JF, Santoro L (2008). "The FG syndromes (Online
Mendelian Inheritance in Man 305450): perspective in 2008".
413:, etc. Changes to this complex and the proteins associated can have a severe impact on the production of new proteins. The
2377:
1891:
1650:
1619:
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1447:
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1111:
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2015:
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2131:
768:
Lyons, Michael J. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.),
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1911:
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2090:
535:
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868:
703:
39:
1527:
1047:
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133:
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1042:
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1954:
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563:
2225:
1936:
1158:
592:
syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation".
418:
417:
gene is also thought to be highly linked to neuron development as well as high usage in the cells
397:
of gene activity. This mediator complex regulates gene expression by bridging interaction between
2398:
2098:
1996:
1665:
1341:
1311:
1281:
1261:
1230:
617:
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176:. About a third of reported cases of individuals with FG syndrome die in infancy, usually due to
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1981:
1964:
1406:
1093:
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1004:
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820:
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pathway. This explains the slowed intellectual development individuals with FG syndrome have.
398:
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1944:
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963:
137:
125:
621:
588:
Opitz JM, Kaveggia EG (1974). "Studies of malformation syndromes of man XXXIII: the
2023:
954:
502:
165:
157:
145:
120:
119:) is a rare genetic syndrome caused by one or more recessive genes located on the
873:
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1207:
1080:
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908:
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144:(low muscle tone), and a characteristic facial appearance including
393:
is composed of around 25 different proteins that all help with the
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1103:
981:
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927:
477:
Congenital anomaly (corpus callosum, anal, cardiac, skeletal)
389:
gene codes for the mediator complex subunit 12 protein. The
1533:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
160:, with or without structural anomalies in the anus such as
205:
Most mutations that cause FG syndrome can be found in the
1807:
Microcephalic osteodysplastic primordial dwarfism type II
1769:
Epidermolysis bullosa simplex with muscular dystrophy
483:
Characteristic behavior (affable and eager to please)
436:
A family history consistent with X-linked inheritance
839:
2326:
2304:
2276:
2239:
2205:
2116:
1995:
1963:
1935:
1882:
1736:
1680:
1632:
1607:
1579:
1556:
1547:
1456:
1426:
1379:
1192:
1183:
1124:
1102:
1079:
1056:
1013:
980:
971:
962:
894:
843:
776:, Seattle (WA): University of Washington, Seattle,
100:
92:
84:
74:
29:
24:
1169:Terminal osseous dysplasia with pigmentary defects
211:gene. However, mutations have also been found in
2052:Danon disease/glycogen storage disease Type IIb
1302:Meesmann juvenile epithelial corneal dystrophy
1252:Meesmann juvenile epithelial corneal dystrophy
401:and gene-specific regulating proteins such as
2157:Color blindness (red and green, but not blue)
2142:Alpha-thalassemia mental retardation syndrome
1846:
939:
132:in 1974, its major clinical features include
8:
2042:Glucose-6-phosphate dehydrogenase deficiency
1790:Arrhythmogenic right ventricular dysplasia 9
1758:Arrhythmogenic right ventricular dysplasia 8
798:
796:
763:
761:
583:
581:
480:Hypotonia, constipation, or feeding problems
1371:Reticular pigmented anomaly of the flexures
2372:
1870:
1853:
1839:
1831:
1553:
1189:
977:
968:
946:
932:
924:
840:
633:
631:
21:
1902:X-linked severe combined immunodeficiency
663:
180:; premature death is rare after infancy.
1366:Naegeli–Franceschetti–Jadassohn syndrome
256:
254:Known types and affected genes include:
2296:X-linked nephrogenic diabetes insipidus
2221:Hypohidrotic ectodermal dysplasia (EDA)
689:
687:
685:
683:
547:
522:, probably had FG syndrome rather than
516:character Raymond Babbitt in the movie
2231:X-linked endothelial corneal dystrophy
2187:Charcot–Marie–Tooth disease (CMTX2-3)
2011:Ornithine transcarbamylase deficiency
1987:X-linked adrenal hypoplasia congenita
1774:Epidermolysis bullosa simplex of Ogna
1043:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
463:Small, simple ears (≤10th percentile)
7:
1922:X-linked lymphoproliferative disease
1892:Chronic granulomatous disease (CYBB)
1391:Desmin-related myofibrillar myopathy
1028:Hypertrophic cardiomyopathy 1, 8, 10
2268:Emery–Dreifuss muscular dystrophy 1
1483:Emery–Dreifuss muscular dystrophy 2
746:. U.S. National Library of Medicine
1977:Spinal and bulbar muscular atrophy
1748:Striate palmoplantar keratoderma 2
1443:Charcot–Marie–Tooth disease 1F, 2E
1221:Striate palmoplantar keratoderma 3
14:
2047:Pyruvate dehydrogenase deficiency
1599:Asphyxiating thoracic dysplasia 3
1488:Limb-girdle muscular dystrophy 1B
744:"MED12 - Genetics Home Reference"
460:Missing part of the upper eyelids
442:Absolute or relative macrocephaly
2127:X-linked intellectual disability
1594:Short rib-polydactyly syndrome 3
1571:Hereditary spastic paraplegia 10
1066:Hypertrophic cardiomyopathy 7, 2
638:Thompson E, Baraitser M (1987).
562:. fgsyndrome.org. Archived from
38:
1973:Androgen insensitivity syndrome
1493:Charcot–Marie–Tooth disease 2B1
439:Characteristic facial features
2349:Simpson–Golabi–Behmel syndrome
1702:Familial adenomatous polyposis
1656:Hereditary elliptocytosis 2, 3
1566:Charcot–Marie–Tooth disease 2A
1478:Familial partial lipodystrophy
990:Hypertrophic cardiomyopathy 11
454:Downslanted palpebral fissures
1:
2318:AMELX Amelogenesis imperfecta
2258:Centronuclear myopathy (MTM1)
1955:X-linked sideroblastic anemia
1651:Hereditary spherocytosis 2, 3
1620:Cavernous venous malformation
1448:Amyotrophic lateral sclerosis
1418:Amyotrophic lateral sclerosis
1322:Epidermolysis bullosa simplex
1272:Epidermolysis bullosa simplex
1242:Ichthyosis bullosa of Siemens
1112:Hypertrophic cardiomyopathy 9
1089:Hypertrophic cardiomyopathy 3
33:Opitz–Kaveggia syndrome, FGS1
2459:X-linked recessive disorders
2344:Smith–Fineman–Myers syndrome
2192:Pelizaeus–Merzbacher disease
2086:Purine–pyrimidine metabolism
1292:Epidermolytic hyperkeratosis
1226:Epidermolytic hyperkeratosis
508:A 2008 study concluded that
148:(an abnormally large head).
2434:Craniofrontonasal dysplasia
2359:Nasodigitoacoustic syndrome
1907:X-linked agammaglobulinemia
1513:Buschke–Ollendorff syndrome
560:FG Syndrome Family Alliance
2480:
2429:Orofaciodigital syndrome 1
2263:Conradi–Hünermann syndrome
2016:Oculocerebrorenal syndrome
1672:Hereditary spherocytosis 1
1589:Primary ciliary dyskinesia
995:Dilated cardiomyopathy 1AA
817:10.1016/j.yapd.2008.07.014
2389:X-linked hypophosphatemia
2384:
2371:
2249:Becker muscular dystrophy
1912:Hyper-IgM syndrome type 1
1869:
1816:
1503:Barraquer–Simons syndrome
1396:Dilated cardiomyopathy 1I
1142:Weill–Marchesani syndrome
770:"MED12-Related Disorders"
696:"MED12-Related Disorders"
474:Broad thumbs and halluces
433:Neurodevelopmental delays
106:Family history (genetics)
46:
37:
2354:Mohr–Tranebjærg syndrome
1897:Wiskott–Aldrich syndrome
1646:Spinocerebellar ataxia 5
1470:Mandibuloacral dysplasia
1038:Freeman–Sheldon syndrome
704:University of Washington
512:, who was the basis for
2394:Focal dermal hypoplasia
2108:Occipital horn syndrome
2037:Carbohydrate metabolism
1785:Skin fragility syndrome
1727:Giant axonal neuropathy
1332:Steatocystoma multiplex
195:Cardiopulmonary defects
191:gastroesophageal reflux
134:intellectual disability
2409:Incontinentia pigmenti
2216:Dyskeratosis congenita
2060:Lipid storage disorder
1982:KAL1 Kallmann syndrome
1071:Nemaline myopathy 4, 5
59:character in the film
2132:Coffin–Lowry syndrome
2073:Mucopolysaccharidosis
1821:Cytoskeletal proteins
403:transcription factors
184:Developmental effects
178:respiratory infection
130:Elisabeth G. Kaveggia
2424:Lujan–Fryns syndrome
2091:Lesch–Nyhan syndrome
2029:Adrenoleukodystrophy
1927:Properdin deficiency
656:10.1136/jmg.24.3.139
536:Lujan–Fryns syndrome
448:Frontal hair upsweep
16:Rare genetic disease
2226:X-linked ichthyosis
1528:Pelger–Huet anomaly
1438:Parkinson's disease
1159:Boomerang dysplasia
1094:Nemaline myopathy 1
1048:May–Hegglin anomaly
1005:Nemaline myopathy 3
566:on 26 February 2019
451:Very large forehead
419:signal transduction
2399:Fragile X syndrome
2209:and related tissue
1876:X-linked recessive
1697:Gardner's syndrome
1666:Long QT syndrome 4
1342:Familial cirrhosis
1312:White sponge nevus
1282:Familial cirrhosis
1262:White sponge nevus
912:-related disorders
895:External resources
606:10.1007/BF00439020
411:activator proteins
407:repressor proteins
2446:
2445:
2442:
2441:
2378:X-linked dominant
2367:
2366:
2327:No primary system
1828:
1827:
1753:Carvajal syndrome
1628:
1627:
1543:
1542:
1407:Alexander disease
1179:
1178:
1120:
1119:
1033:Usher syndrome 1B
1023:Elejalde syndrome
921:
920:
694:Lyons, M (1993).
399:RNA polymerase II
375:
374:
110:
109:
19:Medical condition
2471:
2404:Aicardi syndrome
2373:
1871:
1855:
1848:
1841:
1832:
1819:Related topics:
1554:
1190:
978:
969:
948:
941:
934:
925:
841:
829:
828:
800:
791:
790:
789:
788:
765:
756:
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753:
751:
740:
723:
722:
720:
718:
691:
678:
677:
667:
635:
626:
625:
585:
576:
575:
573:
571:
552:
514:Dustin Hoffman's
391:mediator complex
257:
162:imperforate anus
80:Medical genetics
70:
65:
58:
52:, the basis for
51:
42:
22:
2479:
2478:
2474:
2473:
2472:
2470:
2469:
2468:
2449:
2448:
2447:
2438:
2380:
2363:
2339:McLeod syndrome
2322:
2300:
2286:Alport syndrome
2272:
2235:
2201:
2162:Ocular albinism
2112:
2078:Hunter syndrome
1991:
1959:
1931:
1878:
1865:
1859:
1829:
1824:
1812:
1732:
1676:
1624:
1603:
1575:
1539:
1518:Osteopoikilosis
1452:
1422:
1375:
1175:
1164:Larsen syndrome
1137:Marfan syndrome
1116:
1098:
1075:
1052:
1009:
958:
952:
922:
917:
916:
890:
889:
852:
838:
833:
832:
802:
801:
794:
786:
784:
767:
766:
759:
749:
747:
742:
741:
726:
716:
714:
693:
692:
681:
637:
636:
629:
587:
586:
579:
569:
567:
554:
553:
549:
544:
532:
498:
490:
427:
383:
203:
186:
174:corpus callosum
154:
68:
67:, probably had
61:
53:
47:
20:
17:
12:
11:
5:
2477:
2475:
2467:
2466:
2464:Rare syndromes
2461:
2451:
2450:
2444:
2443:
2440:
2439:
2437:
2436:
2431:
2426:
2421:
2419:CHILD syndrome
2416:
2411:
2406:
2401:
2396:
2391:
2385:
2382:
2381:
2376:
2369:
2368:
2365:
2364:
2362:
2361:
2356:
2351:
2346:
2341:
2336:
2334:Barth syndrome
2330:
2328:
2324:
2323:
2321:
2320:
2314:
2312:
2302:
2301:
2299:
2298:
2293:
2291:Dent's disease
2288:
2282:
2280:
2274:
2273:
2271:
2270:
2265:
2260:
2255:
2245:
2243:
2237:
2236:
2234:
2233:
2228:
2223:
2218:
2212:
2210:
2203:
2202:
2200:
2199:
2194:
2189:
2180:
2179:
2174:
2172:Norrie disease
2169:
2159:
2154:Eye disorders:
2150:
2149:
2144:
2139:
2134:
2122:
2120:
2118:Nervous system
2114:
2113:
2111:
2110:
2104:Menkes disease
2094:
2093:
2081:
2080:
2068:
2067:
2055:
2054:
2049:
2044:
2032:
2031:
2019:
2018:
2013:
2001:
1999:
1993:
1992:
1990:
1989:
1984:
1979:
1969:
1967:
1961:
1960:
1958:
1957:
1952:
1947:
1941:
1939:
1933:
1932:
1930:
1929:
1924:
1919:
1914:
1909:
1904:
1899:
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1888:
1886:
1880:
1879:
1874:
1867:
1866:
1860:
1858:
1857:
1850:
1843:
1835:
1826:
1825:
1817:
1814:
1813:
1811:
1810:
1793:
1792:
1787:
1777:
1776:
1771:
1761:
1760:
1755:
1750:
1740:
1738:
1734:
1733:
1731:
1730:
1718:
1715:Naxos syndrome
1706:
1705:
1704:
1699:
1686:
1684:
1678:
1677:
1675:
1674:
1659:
1658:
1653:
1648:
1638:
1636:
1630:
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1626:
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1623:
1622:
1617:
1611:
1609:
1605:
1604:
1602:
1601:
1596:
1591:
1585:
1583:
1577:
1576:
1574:
1573:
1568:
1562:
1560:
1551:
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1544:
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1540:
1538:
1537:
1536:
1535:
1530:
1522:
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1520:
1515:
1507:
1506:
1505:
1497:
1496:
1495:
1490:
1485:
1480:
1472:
1460:
1458:
1454:
1453:
1451:
1450:
1445:
1440:
1430:
1428:
1424:
1423:
1421:
1420:
1410:
1409:
1399:
1398:
1393:
1383:
1381:
1377:
1376:
1374:
1373:
1368:
1363:
1345:
1335:
1325:
1315:
1305:
1295:
1285:
1275:
1265:
1255:
1245:
1235:
1234:
1233:
1228:
1223:
1212:hyperkeratosis
1196:
1194:
1187:
1181:
1180:
1177:
1176:
1174:
1173:
1172:
1171:
1166:
1161:
1156:
1146:
1145:
1144:
1139:
1128:
1126:
1122:
1121:
1118:
1117:
1115:
1114:
1108:
1106:
1100:
1099:
1097:
1096:
1091:
1085:
1083:
1077:
1076:
1074:
1073:
1068:
1062:
1060:
1054:
1053:
1051:
1050:
1045:
1040:
1035:
1030:
1025:
1019:
1017:
1011:
1010:
1008:
1007:
1002:
997:
992:
986:
984:
975:
966:
964:Microfilaments
960:
959:
953:
951:
950:
943:
936:
928:
919:
918:
915:
914:
899:
898:
896:
892:
891:
888:
887:
876:
865:
853:
848:
847:
845:
844:Classification
837:
836:External links
834:
831:
830:
792:
757:
724:
679:
627:
594:Z Kinderheilkd
577:
546:
545:
543:
540:
539:
538:
531:
528:
497:
494:
489:
486:
485:
484:
481:
478:
475:
472:
471:
470:
469:Long wide face
467:
464:
461:
458:
457:far apart eyes
455:
452:
449:
446:
445:Dolichocephaly
443:
437:
434:
426:
423:
382:
376:
373:
372:
369:
362:
357:
353:
352:
349:
342:
337:
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108:
107:
104:
98:
97:
94:
90:
89:
86:
82:
81:
78:
72:
71:
55:Dustin Hoffman
44:
43:
35:
34:
31:
27:
26:
18:
15:
13:
10:
9:
6:
4:
3:
2:
2476:
2465:
2462:
2460:
2457:
2456:
2454:
2435:
2432:
2430:
2427:
2425:
2422:
2420:
2417:
2415:
2414:Rett syndrome
2412:
2410:
2407:
2405:
2402:
2400:
2397:
2395:
2392:
2390:
2387:
2386:
2383:
2379:
2374:
2370:
2360:
2357:
2355:
2352:
2350:
2347:
2345:
2342:
2340:
2337:
2335:
2332:
2331:
2329:
2325:
2319:
2316:
2315:
2313:
2311:
2307:
2303:
2297:
2294:
2292:
2289:
2287:
2284:
2283:
2281:
2279:
2275:
2269:
2266:
2264:
2261:
2259:
2256:
2254:
2250:
2247:
2246:
2244:
2242:
2241:Neuromuscular
2238:
2232:
2229:
2227:
2224:
2222:
2219:
2217:
2214:
2213:
2211:
2208:
2204:
2198:
2195:
2193:
2190:
2188:
2185:
2182:
2181:
2178:
2177:Choroideremia
2175:
2173:
2170:
2167:
2163:
2160:
2158:
2155:
2152:
2151:
2148:
2145:
2143:
2140:
2138:
2137:MASA syndrome
2135:
2133:
2130:
2128:
2124:
2123:
2121:
2119:
2115:
2109:
2105:
2102:
2100:
2096:
2095:
2092:
2089:
2087:
2083:
2082:
2079:
2076:
2074:
2070:
2069:
2066:
2065:Fabry disease
2062:
2061:
2057:
2056:
2053:
2050:
2048:
2045:
2043:
2040:
2038:
2034:
2033:
2030:
2027:
2025:
2021:
2020:
2017:
2014:
2012:
2009:
2007:
2003:
2002:
2000:
1998:
1994:
1988:
1985:
1983:
1980:
1978:
1974:
1971:
1970:
1968:
1966:
1962:
1956:
1953:
1951:
1950:Haemophilia B
1948:
1946:
1945:Haemophilia A
1943:
1942:
1940:
1938:
1934:
1928:
1925:
1923:
1920:
1918:
1915:
1913:
1910:
1908:
1905:
1903:
1900:
1898:
1895:
1893:
1890:
1889:
1887:
1885:
1881:
1877:
1872:
1868:
1863:
1856:
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1842:
1837:
1836:
1833:
1823:
1822:
1815:
1808:
1804:
1803:
1798:
1795:
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1791:
1788:
1786:
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1779:
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1766:
1763:
1762:
1759:
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1742:
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1735:
1728:
1724:
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1719:
1716:
1712:
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1707:
1703:
1700:
1698:
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1688:
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1683:
1679:
1673:
1670:
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1663:
1657:
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1600:
1597:
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1578:
1572:
1569:
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1526:
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1501:
1500:
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1484:
1481:
1479:
1476:
1473:
1471:
1468:
1467:
1465:
1462:
1461:
1459:
1455:
1449:
1446:
1444:
1441:
1439:
1435:
1434:Neurofilament
1432:
1431:
1429:
1425:
1419:
1415:
1412:
1411:
1408:
1404:
1401:
1400:
1397:
1394:
1392:
1388:
1385:
1384:
1382:
1378:
1372:
1369:
1367:
1364:
1361:
1357:
1353:
1349:
1346:
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1336:
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1326:
1323:
1319:
1316:
1313:
1309:
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1299:
1296:
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1263:
1259:
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1232:
1229:
1227:
1224:
1222:
1219:
1218:
1217:
1213:
1209:
1205:
1201:
1200:Keratinopathy
1198:
1197:
1195:
1191:
1188:
1186:
1182:
1170:
1167:
1165:
1162:
1160:
1157:
1155:
1154:FG syndrome 2
1152:
1151:
1150:
1147:
1143:
1140:
1138:
1135:
1134:
1133:
1130:
1129:
1127:
1123:
1113:
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1095:
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1072:
1069:
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1059:
1055:
1049:
1046:
1044:
1041:
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1036:
1034:
1031:
1029:
1026:
1024:
1021:
1020:
1018:
1016:
1012:
1006:
1003:
1001:
998:
996:
993:
991:
988:
987:
985:
983:
979:
976:
974:
970:
967:
965:
961:
956:
949:
944:
942:
937:
935:
930:
929:
926:
913:
911:
906:
905:
901:
900:
897:
893:
886:
882:
881:
877:
875:
871:
870:
866:
864:
860:
859:
855:
854:
851:
846:
842:
835:
826:
822:
818:
814:
810:
806:
799:
797:
793:
783:
779:
775:
771:
764:
762:
758:
745:
739:
737:
735:
733:
731:
729:
725:
713:
709:
705:
701:
697:
690:
688:
686:
684:
680:
675:
671:
666:
661:
657:
653:
650:(3): 139–43.
649:
645:
641:
640:"FG syndrome"
634:
632:
628:
623:
619:
615:
611:
607:
603:
599:
595:
591:
584:
582:
578:
565:
561:
557:
551:
548:
541:
537:
534:
533:
529:
527:
525:
521:
520:
515:
511:
506:
504:
495:
493:
487:
482:
479:
476:
473:
468:
465:
462:
459:
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453:
450:
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444:
441:
440:
438:
435:
432:
431:
430:
424:
422:
420:
416:
412:
408:
404:
400:
396:
392:
388:
380:
377:
370:
368:
367:
363:
361:
358:
355:
354:
351:Xp11.4-p11.3
350:
348:
347:
343:
341:
338:
335:
334:
330:
328:
327:
323:
321:
318:
315:
314:
310:
308:
307:
303:
301:
298:
295:
294:
290:
288:
287:
283:
281:
278:
275:
274:
270:
267:
265:
262:
259:
258:
255:
252:
250:
246:
245:
240:
239:
234:
233:
228:
227:
222:
221:
216:
215:
210:
209:
200:
198:
196:
192:
183:
181:
179:
175:
171:
167:
163:
159:
151:
149:
147:
143:
139:
138:hyperactivity
135:
131:
127:
126:John M. Opitz
122:
118:
114:
105:
103:
99:
95:
91:
87:
83:
79:
77:
73:
66:
64:
56:
50:
45:
41:
36:
32:
28:
23:
2183:
2153:
2125:
2097:
2084:
2071:
2058:
2035:
2024:Dyslipidemia
2022:
2004:
1818:
1800:
1720:
1708:
1689:
1660:
1549:Microtubules
1153:
955:Cytoskeletal
909:
902:
878:
867:
856:
808:
804:
785:, retrieved
773:
748:. Retrieved
715:. Retrieved
699:
647:
643:
597:
593:
589:
570:20 September
568:. Retrieved
564:the original
559:
550:
517:
507:
503:X chromosome
499:
491:
428:
414:
386:
384:
378:
364:
344:
324:
304:
284:
253:
248:
242:
236:
230:
224:
218:
212:
206:
204:
187:
166:macrocephaly
158:constipation
155:
152:Presentation
146:macrocephaly
121:X chromosome
116:
112:
111:
102:Risk factors
60:
1937:Hematologic
1781:plakophilin
1744:desmoplakin
1710:plakoglobin
1464:Laminopathy
1360:Monilethrix
1208:keratoderma
1081:Tropomyosin
973:Myofilament
904:GeneReviews
805:Adv Pediatr
774:GeneReviews
750:6 September
717:6 September
706:, Seattle.
700:GeneReviews
644:J Med Genet
600:(1): 1–18.
556:"Faq Pages"
113:FG syndrome
85:Usual onset
69:FG syndrome
30:Other names
25:FG syndrome
2453:Categories
2006:Amino acid
1797:centrosome
1414:Peripherin
880:DiseasesDB
811:: 123–70.
787:2020-09-01
542:References
466:Open mouth
395:regulation
1997:Metabolic
1965:Endocrine
1864:disorders
1615:Tauopathy
1204:keratosis
1132:Fibrillin
488:Treatment
425:Diagnosis
170:hypotonia
168:; severe
142:hypotonia
76:Specialty
2278:Urologic
2253:Duchenne
1862:X-linked
1642:Spectrin
1634:Membrane
1475:Dunnigan
1058:Troponin
825:19048730
782:20301719
712:20301719
622:25141237
530:See also
519:Rain Man
510:Kim Peek
201:Genetics
96:Lifelong
93:Duration
63:Rain Man
49:Kim Peek
2099:Mineral
1765:plectin
1682:Catenin
1662:Ankyrin
1558:Kinesin
1466:: LMNA
1149:Filamin
957:defects
874:C537923
674:3572995
665:1049945
614:4365204
496:History
371:Xq22.3
331:Xp22.3
2184:Other:
1884:Immune
1581:Dynein
1509:LEMD3
1387:Desmin
1015:Myosin
1000:DFNA20
863:305450
823:
780:
710:
672:
662:
620:
612:
524:autism
360:300581
340:300422
320:300406
300:300321
280:305450
271:Locus
251:gene.
2310:tooth
2197:SMAX2
1737:Other
1608:Other
1499:LMNB
1356:KRT86
1352:KRT83
1348:KRT81
1338:KRT18
1328:KRT17
1318:KRT14
1308:KRT13
1298:KRT12
1288:KRT10
1238:KRT2E
1125:Other
1104:Titin
982:Actin
910:MED12
885:32162
618:S2CID
415:MED12
387:MED12
379:MED12
356:FGS5
336:FGS4
316:FGS3
311:Xq28
296:FGS2
291:Xq13
286:MED12
276:FGS1
268:Gene
260:Type
249:MED12
238:MECP2
226:UPF3B
208:MED12
88:Birth
2306:Bone
2207:Skin
2147:PHF8
1917:IPEX
1802:PCNT
1524:LBR
1403:GFAP
1278:KRT8
1268:KRT5
1258:KRT4
1248:KRT3
1231:IHCM
1216:KRT1
869:MeSH
858:OMIM
821:PMID
778:PMID
752:2016
719:2016
708:PMID
670:PMID
610:PMID
572:2016
385:The
381:gene
366:FGS5
346:CASK
326:FGS3
306:FLNA
264:OMIM
244:ATRX
241:and
232:CASK
220:FLNA
214:FMR1
128:and
1722:GAN
1691:APC
1214:):
1193:1/2
813:doi
660:PMC
652:doi
602:doi
598:117
117:FGS
2455::
2063::
1799::
1783::
1767::
1746::
1664::
1644::
1436::
1416::
1405::
1389::
1210:,
1206:,
1185:IF
907::
883::
872::
861::
819:.
809:55
807:.
795:^
772:,
760:^
727:^
702:.
698:.
682:^
668:.
658:.
648:24
646:.
642:.
630:^
616:.
608:.
596:.
590:FG
580:^
558:.
526:.
505:.
409:,
405:,
235:,
229:,
223:,
217:,
193:.
164:;
140:,
136:,
57:'s
2308:/
2251:/
2168:)
2166:1
2164:(
2129::
2106:/
2101::
2088::
2075::
2039::
2026::
2008::
1975:/
1854:e
1847:t
1840:v
1809:)
1805:(
1729:)
1725:(
1717:)
1713:(
1457:5
1427:4
1380:3
1362:)
1358:(
1354:/
1350:/
1344:)
1340:(
1334:)
1330:(
1324:)
1320:(
1314:)
1310:(
1304:)
1300:(
1294:)
1290:(
1284:)
1280:(
1274:)
1270:(
1264:)
1260:(
1254:)
1250:(
1244:)
1240:(
1202:(
947:e
940:t
933:v
850:D
827:.
815::
754:.
721:.
676:.
654::
624:.
604::
574:.
115:(
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