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Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI (Sep 2004). "Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings".
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Majewski F, Ranke M, Schinzel A (May 1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism".
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107:(NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population.
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Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner
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associated with brain and skeletal abnormalities. It was characterized in 1982.
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range. Some have average levels of intelligence, but may masked by specific
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210:"Mutations in the pericentrin (PCNT) gene cause primordial dwarfism"
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Intelligence is reported by usually within low-normal or mild
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Rauch A, Thiel CT, Schindler D, et al. (February 2008).
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Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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Microcephalic osteodysplastic primordial dwarfism type II
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Microcephalic osteodysplastic primordial dwarfism type II
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Microcephalic osteodysplastic primordial dwarfism type II
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Epidermolysis bullosa simplex with muscular dystrophy
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Majewski osteodysplastic primordial dwarfism type II
18:
Majewski osteodysplastic primordial dwarfism type II
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639:Terminal osseous dysplasia with pigmentary defects
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143:, smallest living woman until her death in 2019
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772:Meesmann juvenile epithelial corneal dystrophy
722:Meesmann juvenile epithelial corneal dystrophy
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409:
1260:Arrhythmogenic right ventricular dysplasia 9
1228:Arrhythmogenic right ventricular dysplasia 8
841:Reticular pigmented anomaly of the flexures
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836:Naegeli–Franceschetti–Jadassohn syndrome
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1244:Epidermolysis bullosa simplex of Ogna
513:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
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861:Desmin-related myofibrillar myopathy
498:Hypertrophic cardiomyopathy 1, 8, 10
953:Emery–Dreifuss muscular dystrophy 2
24:
1218:Striate palmoplantar keratoderma 2
913:Charcot–Marie–Tooth disease 1F, 2E
691:Striate palmoplantar keratoderma 3
110:It is associated with the protein
25:
1384:
1069:Asphyxiating thoracic dysplasia 3
958:Limb-girdle muscular dystrophy 1B
307:
1305:
1064:Short rib-polydactyly syndrome 3
1041:Hereditary spastic paraplegia 10
536:Hypertrophic cardiomyopathy 7, 2
963:Charcot–Marie–Tooth disease 2B1
1172:Familial adenomatous polyposis
1126:Hereditary elliptocytosis 2, 3
1036:Charcot–Marie–Tooth disease 2A
948:Familial partial lipodystrophy
460:Hypertrophic cardiomyopathy 11
13:
1:
1121:Hereditary spherocytosis 2, 3
1090:Cavernous venous malformation
918:Amyotrophic lateral sclerosis
888:Amyotrophic lateral sclerosis
792:Epidermolysis bullosa simplex
742:Epidermolysis bullosa simplex
712:Ichthyosis bullosa of Siemens
582:Hypertrophic cardiomyopathy 9
559:Hypertrophic cardiomyopathy 3
159:
105:National Institutes of Health
1321:. You can help Knowledge by
762:Epidermolytic hyperkeratosis
696:Epidermolytic hyperkeratosis
129:Notable persons with MOPD II
7:
983:Buschke–Ollendorff syndrome
147:
10:
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1142:Hereditary spherocytosis 1
1059:Primary ciliary dyskinesia
465:Dilated cardiomyopathy 1AA
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973:Barraquer–Simons syndrome
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866:Dilated cardiomyopathy 1I
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1116:Spinocerebellar ataxia 5
940:Mandibuloacral dysplasia
508:Freeman–Sheldon syndrome
1255:Skin fragility syndrome
1197:Giant axonal neuropathy
802:Steatocystoma multiplex
237:10.1126/science.1151174
187:10.1002/ajmg.1320120104
119:intellectual disability
101:Office of Rare Diseases
95:MOPD II is listed as a
1368:Genetic disorder stubs
541:Nemaline myopathy 4, 5
137:, sideshow entertainer
1291:Cytoskeletal proteins
281:10.1002/ajmg.a.30203
998:Pelger–Huet anomaly
908:Parkinson's disease
629:Boomerang dysplasia
564:Nemaline myopathy 1
518:May–Hegglin anomaly
475:Nemaline myopathy 3
228:2008Sci...319..816R
154:Primordial dwarfism
123:learning disability
90:primordial dwarfism
1167:Gardner's syndrome
1136:Long QT syndrome 4
812:Familial cirrhosis
782:White sponge nevus
752:Familial cirrhosis
732:White sponge nevus
368:External resources
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493:Elejalde syndrome
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269:Am. J. Med. Genet
175:Am. J. Med. Genet
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27:Medical condition
16:(Redirected from
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1289:Related topics:
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1323:expanding it
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1019:Microtubules
425:Cytoskeletal
375:
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275:(1): 55–72.
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268:
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181:(1): 23–35.
178:
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135:Lucia Zarate
116:
109:
97:rare disease
94:
85:
81:
80:
1251:plakophilin
1214:desmoplakin
1180:plakoglobin
934:Laminopathy
830:Monilethrix
678:keratoderma
551:Tropomyosin
443:Myofilament
112:pericentrin
38:Other names
1362:Categories
1267:centrosome
884:Peripherin
160:References
1085:Tauopathy
674:keratosis
602:Fibrillin
61:Specialty
1112:Spectrin
1104:Membrane
945:Dunnigan
528:Troponin
377:Orphanet
297:24104332
289:15368497
254:23055733
246:18174396
148:See also
114:(PCNT).
1235:plectin
1152:Catenin
1132:Ankyrin
1028:Kinesin
936:: LMNA
619:Filamin
427:defects
358:C565898
337:: Q87.1
224:Bibcode
215:Science
195:7201238
99:by the
86:MOPD II
1051:Dynein
979:LEMD3
857:Desmin
485:Myosin
470:DFNA20
347:210720
295:
287:
252:
244:
193:
68:
1313:This
1207:Other
1078:Other
969:LMNB
826:KRT86
822:KRT83
818:KRT81
808:KRT18
798:KRT17
788:KRT14
778:KRT13
768:KRT12
758:KRT10
708:KRT2E
595:Other
574:Titin
452:Actin
293:S2CID
250:S2CID
1319:stub
1272:PCNT
994:LBR
873:GFAP
748:KRT8
738:KRT5
728:KRT4
718:KRT3
701:IHCM
686:KRT1
382:2937
353:MeSH
342:OMIM
285:PMID
273:130A
242:PMID
191:PMID
1192:GAN
1161:APC
684:):
663:1/2
330:ICD
277:doi
232:doi
220:319
183:doi
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655:IF
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84:(
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