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Medical Diagnosis NameDiagnosis DetailsEstablished ConditionCreated Date
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6q terminal deletion syndrome6q terminal deletion syndromeYes4/2/2019
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Achondrogenesis IAchondrogenesis I (Parenti-Fraccaro)Yes1/24/2017
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Achondrogenesis IIAchondrogenesis II (Langer-Saldino)Yes1/24/2017
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Acrocallosal Synd, SchinzelAcrocallosal Syndrome, Schinzel Type (aka: Schinzel Acrocallosal Syndrome; Acrocallosal Syndrome, Schinzel Type; ACLS; ACS; Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation syndrome)Yes1/24/2017
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AcrodysostosisAcrodysostosis (aka: Arkless-Graham; Acrodysplasia; Maroteaux-Malamut; Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation Syndrome; PNM Syndrome)Yes1/24/2017
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AdrenoleukodystrophyAdrenoleukodystrophy (aka: ALD; AMN; X-ALD; Addison disease and cerebral sclerosis; Adrenomyeloneuropathy; Siemerling-creutzfeldt disease; Bronze schilder disease; Schilder Disease; Melanodermic Leukodystrophy; sudanophilic leukodystrophy; Pelizaeus Merz...Yes1/24/2017
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Agenesis of Corpus CallosumAgenesis of the Corpus Callosum (aka: Absence of the corpus callosum; Hypogenesis of the corpus callosum; Dysplastic corpus callosum)Yes1/24/2017
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Aicardi SyndAicardi Syndrome (aka: Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies; Chorioretinal Anomalies with Agenesis ...Yes1/24/2017
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Alexander DiseaseAlexander DiseaseYes1/24/2017
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Allan Herndon SyndAllan Herndon Syndrome (aka: Allan-Herndon-Dudley Syndrome (AHDS); Allan-Herndon-Dudley Mental Retardation)Yes1/24/2017
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Alper DiseaseAlper Disease (aka: Alper's Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis; Alpers Progressive Infantile Poliodystrophy; Christensen's disease; Christensen-Krabbe disease; Diffuse Cerebral Degeneration in Infancy; Poliodystrophia Cer...Yes1/24/2017
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Amputation of leg at hipAmputation of the leg at the hipYes1/24/2017
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AnencephalyAnencephalyYes1/24/2017
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Angelman SyndAngelman Syndrome (aka: AS)Yes1/24/2017
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Aniridia Cerebellar Ataxia MDAniridia Cerebellar Ataxia Mental Deficiency (aka: Gillespie syndrome; Aniridia, Partial-Cerebellar Ataxia-Oligophrenia; Aniridia-Cerebellar Ataxia-Mental Retardation)hrenia)Yes1/24/2017
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Anophthalmia, bilateralAnophthalmia, bilateralYes1/24/2017
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Apert SyndApert Syndrome (aka: ACS 1; ACS I; Acrocephalosyndactyly, Type I; Syndactylic Oxycephaly)Yes1/24/2017
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APGAR score 3 or less @ 20 minAPGAR score of 3 or less at 20 minutesYes1/24/2017
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Aphasia w brain damageAphasia (with evidence of brain damage) (aka: aphemia with evidence of brain damage)Yes1/24/2017
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Argininosuccinic aciduriaArgininosuccinic aciduria (aka: Arginino Succinase Deficiency; ASA Deficiency; Argininosuccinate Lyase Deficiency; ASL Deficiency)Yes1/24/2017
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ArthrogryposisArthrogryposis (aka: arthrogryposis multiplex congenita; AMC; multiple congenital contractures)Yes1/24/2017
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Asphyxia w brain damageAsphyxia (with evidence of brain damage within athe first couple days of the event)Yes1/24/2017
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Ataxia TelangiectasiaAtaxia Telangiectasia (aka: AT; Cerebello-Oculocutaneous Telangiectasia; Immunodeficiency with Ataxia Telangiectasia)Yes1/24/2017
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Autism Spectrum DisorderAutism Spectrum Disorder (aka: Infantile Autism; Kanner Syndrome; Autisitc Disorder; Asperger Syndrome; Asperger's Disorder; Pervasive Developmental Disorder; PDD; Pervasive Developmental Disorder-Not Otherwise Specified; PDD-NOS)Yes1/24/2017
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Baller Gerold SyndBaller Gerold Syndrome (aka: Craniosynostosis with Radial Defects, Craniosynostosis-Radial Aplasia Syndrome)Yes1/24/2017
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Bannayan Riley RuvalcabaBannayan Riley Ruvalcaba (aka: Bannayan Riley Ruvalcaba Syndrome; BRRS, Bannayan-Zonana syndrome (BZS); Macrocephaly, multiple lipomas, and hemangiomata; Macrocephaly, pseudopapilledema, and multiple hemangiomata; Riley-Smith syndrome; Ruvalcaba-Myhre-Sm...Yes1/24/2017
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Bardet-Biedl SyndBardet-Biedl Syndrome (aka: Biedl-Bardet Syndrome; Laurence Moon-Biedl)Yes1/24/2017
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Bartter SyndBartter's syndrome (aka: Hypokalemic Alkalosis with Hypercalciuria)Yes1/24/2017
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Batten DiseaseBatten Disease (aka: CLN3, JNCL, Neuronal Ceroid Lipofuscinosis, Juvenile, Spielmeyer-Sjogren Disease, Vogt-Spielmeyer Disease, or Vogt-Spielmeyer-Sjogren Disease)Yes1/24/2017
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Borjeson SyndBorjeson Syndrome (aka: BORJ; Borjeson-Forssman-Lehmann Syndrome; BFLS)Yes1/24/2017
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Brain TumorBrain Tumor (aka: brain cancer; brain teratoma; glioma; astrocytoma; glioblastoma multiforme; ependymoma; oligodendroglioma; medulloblastoma; meningioma; Schwannoma; acoustic neuroma; craniopharyngioma; germ cell tumor of the brain; germinoma; pineal reg...Yes1/24/2017
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C SyndC Syndrome (aka: Opitz Trigonocephaly Syndrome, Trigonocephaly "C" Syndrome, Trigonocephaly Syndrome)Yes1/24/2017
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Cardiofaciocutaneous SyndCardiofaciocutaneous syndrome (aka: CFC syndrome, Cardio-facial-cutaneous syndrome, Facio-cardio-cutaneous syndrome)Yes1/24/2017
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Cerebellar agenesisCerebellar Agenesis (aka: Cerebellar Aplasia; Cerebellar Hemiagenesis; Cerebellar Hypoplasia; Cerebellar Atrophy)Yes1/24/2017
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Cerebral atrophyCerebral atrophyYes1/24/2017
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Cerebral DysgenesisCerebral DysgenesisYes1/24/2017
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Cerebral PalsyCerebral Palsy (aka: Ataxia Cerebral Palsy,Athetoid Cerebral Palsy, Congenital Cerebral Palsy, Diplegia of Cerebral Palsy,Hemiparesis of Cerebral Palsy, Hemiplegia of Cerebral Palsy, Hemiplegia, Hemiparesis, Postnatal Cerebral Palsy, Quadriparesis, Quadr...Yes1/24/2017
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Cerebro Oculo Facio Skel SyndCerebro Oculo Facio Skeletal Syndrome (aka: COFS Syndrome, Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome type II, Pena Shokeir II Syndrome, Pena Shokeir Syndrome Type II)Yes1/24/2017
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CerebromalaciaCerebromalacia (aka: Encephalomalacia)Yes1/24/2017
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CHAMP 1Champ 1 gene mutationYes6/5/2017
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CHARGE SyndCHARGE Syndrome (aka: CHARGE Association)Yes1/24/2017
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Chrom 10, Monosomy 10pChromosome 10, Monosomy 10p (aka: 10p Deletion Syndrome (Partial); Chromosome 10, 10p- Partial; Chromosome 10, Partial Deletion (short arm))Yes1/24/2017
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Chrom 11, Partial Monosomy 11qChromosome 11, Partial Monosomy 11q (aka: 11q- Syndrome; Partial, Deletion 11q Syndrome, Partial; Distal 11q Monosomy; Distal 11q- Syndrome; JBS; Jacobsen Syndrome; Monosomy 11q, Partial; Partial Monosomy of Long Arm of Chromosome 11; 11q14 deletion; 11q21 deletion; 11q14-21 deletion)Yes1/24/2017
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Chrom 11, Partial Trisomy 11p14.3Chromosome 11, Partial Trisomy 11p14.3Yes6/21/2018
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Chrom 11, Partial Trisomy 11qChromosome 11, Partial Trisomy 11q (aka: 11q Partial Trisomy, Chromosome 11; Partial Trisomy 11q13-qter, Chromosome 11; Partial Trisomy 11q21-qter;, Chromosome 11; Partial Trisomy 11q23-qter; Distal Trisomy 11q; Partial Trisomy 11q; Trisomy 11q, Partial)Yes1/24/2017
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Chrom 12 DeletionChromosome 12 deletionYes1/24/2017
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Chrom 12 Partial TrisomyPartial Trisomy 12Yes1/24/2017
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Chrom 13, Partl Monosomy 13qChromosome 13, Partial Monosomy 13q (aka: 13q- Syndrome, Partial; Deletion 13q Syndrome, Partial; Monosomy 13q, Partial; Partial Monosomy of the Long Arm of Chromosome 13)Yes1/24/2017
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Chrom 14 DeletionChromosome 14 deletionYes1/24/2017
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Chrom 14 RingChromosome 14 Ring (aka: Ring 14; Ring Chromosome 14; r14)Yes1/24/2017
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Chrom 14, Trisomy MosaicChromosome 14, Trisomy Mosaic (aka: Trisomy 14 Mosaic; Trisomy 14 Mosaicism Syndrome; Trisomy 14 Syndrome)Yes1/24/2017
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Chrom 15 RingChromosome 15 Ring (aka: Ring 15; Ring 15 Chromosome; Ring 15 Chromosome (mosaic pattern); r15)Yes1/24/2017
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Chrom 15, Distal Trisomy 15qChromosome 15, Distal Trisomy 15q (aka: Chromosome 15, Trisomy 15q2; Distal Duplication 15q; Partial Duplication 15q Syndrome)Yes1/24/2017
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Chrom 15q11-q13 DupChromosome 15q11-q13 duplication (aka: Isodicentric 15; Inverted duplication 15)Yes1/24/2017
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Chrom 15q24 microdeletion syndromeChromosome 15q24 Microdeletion SyndromeYes6/21/2018
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Chrom 16 DuplicationChromosome 16 DuplicationYes1/24/2017
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Chrom 17q12duplicationChromosome 17q12 DuplicationYes1/24/2017
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Chrom 18 RingChromosome 18 Ring (aka: Ring 18; Ring Chromosome 18; r18)Yes1/24/2017
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Chrom 18, Tetrasomy 18pChromosome 18, Tetrasomy 18p (aka: Tetrasomy, Short Arm of Chromosome 18)Yes1/24/2017
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Chrom 19p duplicatonChromosome 19p duplicatonYes1/24/2017
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Chrom 19p13.11 deletion syndrome19p13.11 deletion syndromeYes
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Chrom 20q TrisomyChromosome 20q Trisomy (aka: Chromosome 20q Duplication; Partial Trisomy 20q; Trisomy 20q11.2; Chromsome 20q11.2 Duplication; Trisomy 20)Yes1/24/2017
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Chrom 22 RingChromosome 22 Ring (aka: Ring 22; Ring 22, Chromosome; r22)Yes1/24/2017
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Chrom 22, Trisomy MosaicChromosome 22, Trisomy Mosaic (aka: Trisomy 22 Mosaic; Trisomy 22 Mosaicism Syndrome)Yes1/24/2017
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Chrom 22q11.2 duplicationChromosome 22q11.2 duplicationYes1/24/2017
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Chrom 2q32 DeletionChromosome 2q32 deletionYes1/24/2017
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Chrom 3, Monsomy 3p2Chromosome 3, Monosomy 3p2 (aka: Chromosome 3, Deletion of Distal 3p; Chromosome 3, Distal 3p Monosomy; Monosomy 3p2; Partial Deletion of Chromosome 3)Yes1/24/2017
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Chrom 3, Trisomy 3q2Chromosome 3, Trisomy 3q2 (aka: Chromosome 3, Distal 3q2 Duplication; Chromosome 3, Distal 3q2 Trisomy; Partial Duplication 3q Syndrome; Partial Trisomy 3q Syndrome)Yes1/24/2017
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Chrom 4 RingChromosome 4 Ring (aka: Ring 4; Ring 4, Chromosome; r4)Yes1/24/2017
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Chrom 4, Monosomy 4qChromosome 4, Monosomy 4q (aka: Interstitial Deletion of 4q; Proximal Deletion of 4q;Terminal Deletion of 4q; Chromosome 4Q minus micro deletion)Yes1/24/2017
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Chrom 4, Monosomy Distal 4qChromosome 4, Monosomy Distal 4q (aka: 4q Deletion Syndrome, Partial; Chromosome 4, 4q Terminal Deletion Syndrome; Chromosome 4, Partial Monosomy 4q; Del(4q) Syndrome, Partial; Distal 4q Monosomy; Distal 4q- Syndrome; Chromosome 4Q minus micro deletion)Yes1/24/2017
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Chrom 4, Partl Trsmy Distal 4qChromosome 4, Partial Trisomy Distal 4q (aka: Chromosome 4, Partial Trisomy 4q (4q2 and 4q3); Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter), Distal 4q Trisomy, Dup(4q) Syndrome; Partial Duplication 4q Syndrome; Partial Partial Trisomy 4q Synd...Yes1/24/2017
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Chrom 4, Trisomy 4pChromosome 4, Trisomy 4p (aka: Chromosome 4 (Partial Trisomy 4p); Dup(4p) Syndrome; Duplication 4p Syndrome)Yes1/24/2017
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Chrom 5, Trisomy 5pChromosome 5, Trisomy 5p (aka: Chromosome 5, Trisomy 5p, (Complete (5p11-ter), Included); Chromosome 5, (Trisomy 5p, Partial, Included); Dup(5p) Syndrome; Duplication 5p Syndrome)Yes1/24/2017
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Chrom 6 RingChromosome 6 Ring (aka: Ring 6; Ring 6, Chromosome; r6)Yes1/24/2017
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Chrom 6, Partial Trisomy 6qChromosome 6, Partial Trisomy 6q (aka: 6q+ Syndrome, Partial; Chromosome 6, Trisomy 6q2; Distal Duplication 6q; Distal Trisomy 6q; Duplication 6q, Partial; Trisomy 6q Syndrome, Partial; Trisomy 6q, Partial)Yes1/24/2017
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Chrom 6p Partl MonosomyChromosome 6p, Partial Monosomy (aka Partial Deletion of Chromosome 6p)Yes1/24/2017
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Chrom 7, Partial Monosomy 7pChromosome 7, Partial Monosomy 7p (aka: Chromosome 7, 7p Deletion Syndrome, Partial; Chromosome 7, Partial Deletion of Short Arm; Del(7p) Syndrome, Partial; Interstitial 7p Monosomy; Partial 7p Monosomy; Terminal 7p Monosomy; Terminal 7p Monosomy)Yes1/24/2017
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Chrom 7p Partl Dup SyndChromosome 7p Partial Duplication Syndrome (aka: 7p Duplication Syndrome)Yes1/24/2017
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Chrom 7q Partl MonosomyChromosome 7q Partial Monosomy (aka: Chromosome 7q Deletion; Chromosome 7q Partial Deletion; Chromosome 7q11.22 deletion; Chromosome 7q34-36.1 deletion; Monosomy Chromosome 7q; Partial Monosomy Chromosome 7q; Monosomy Chromosome 7q34-36.1)Yes1/24/2017
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Chrom 8, Monosomy 8p2Chromosome 8, Monosomy 8p2 (aka: 8p- Syndrome, Partial; Chromosome 8, 8p Deletion Syndrome, Partial Chromosome 8, Partial Deletion of Short Arm; Chromosome 8, Partial Monosomy 8p2; Del(8p) Syndrome, Partial; Distal 8p Monosomy; Partial 8p Monosomy; Monosomy 8p23.1)Yes1/24/2017
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Chrom 9 RingChromosome 9 Ring (aka: r9; Ring 9; Ring 9, Chromosome)Yes1/24/2017
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Chrom 9, Complete Trisomy 9PChromosome 9 Trisomy (aka: Complete Trisomy 9P; Partial Trisomy 9; Chromosome 9, Partial Trisomy 9P; Trisomy 9P Syndrome (Partial); Rethore Syndrome (obsolete); Duplication 9p Syndrome; Dup(9p) Syndrome; Chromosome 9, Trisomy 9pter-q11-13; Chromosome 9, ...Yes1/24/2017
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Chrom 9, Tetrasomy 9pChromosome 9, Tetrasomy 9p (aka: Chromosome 9, Tetrasomy 9p Mosaicism; Mosaic Tetrasomy 9p; Tetrasomy 9p; Tetrasomy, Short Arm of Chromosome 9)Yes1/24/2017
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Chrom 9, Trisomy MosaicChromosome 9, Trisomy Mosaic (aka: Trisomy 9 Mosaic; Trisomy 9 Mosaicism; Trisomy 9 Mosaicism Syndrome)Yes1/24/2017
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Chrom 9q Partial MonosomyChromosome 9q Partial MonosomyYes1/24/2017
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Chrom Xq26.2 duplicationChromosome Xq26.2 duplication (aka: duplication of the distal portion of the long arm of the X chromosome; chromosome X duplication; chromosome Xq duplication)Yes1/24/2017
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Chromosome 10q25 deletion syndromeYes6/22/2018
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Chromosome 10q26 deletion syndromeYes3/28/2017
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Chromosome 12p duplicationYes5/11/2017
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Chromosome 17p 13.2 duplicationYes5/15/2017
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Chromosome 17p13.1 and/or 17p13.2 microdeletionChromosome 17p13.1 and/or 17p13.2 microdeletionYes1/24/2017
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Chromosome 1p36 Deletion SyndromeChromosome 1p36 deletionYes1/24/2017
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Chromosome 21q Partial Deletion SyndromeChromosome 21q Partial Deletion Syndrome (aka: 21q22 Deletion), not including small deletions of only 21q22.3Yes6/22/2018
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Chromosome 7q duplicationaka 7q22.3-7q36.1 duplicationYes1/24/2017
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Chromosome 8p inverted duplication/deletion syndromeYes1/24/2017
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Chromosome Xp deletionYes6/22/2018
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Chromosome Xp22 duplicationChromosome Xp22 duplicationYes10/30/2019