Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
Darier diseaseATP2A212q24.11Epilepsy and seizures
DCN1 DOMAIN-CONTAINING PROTEIN 1DCUN1D13q26.33Autism spectrum
Deafness-dystonia-optic neuronopathy syndromeTIMM823q22.1Ataxia spectrum
DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOGDEAF111p15.5Autism spectrum
Dentatorubral-pallidoluysian atrophyATN112p13.31Ataxia spectrum
Depression anxiety and eating disordersFEV2q35Panic phobia anxiety
Desanto-Shinawi syndromeDESSH10p12.1Autism spectrum
Desanto-Shinawi syndromeWAC10p12.1Autism spectrum
DesmosterolosisDHCR241p32.3Arthrogryposis spectrum
Developmental delay intellectual disability obesity and dysmorphic featuresPHIP6q14.1Autism spectrum
DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY OBESITY DYSMORPHIC FEATURESDIDOD6q14.1Autism spectrum
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISMDEDDFA7q22.1Autism spectrum
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENTDDVIBA22q13.2Autism spectrum
D-GLYCERIC ACIDURIAGLYCTK3p21.2Autism spectrum
Diabetes mellitus neonatal with congenital hypothyroidismGLIS39p24.2Diabetes
Diabetes mellitus type 2TCF7L210q25.2-3Autism spectrum
Diamond-Blackfan anemiaRPL111p35-36.1Cleft lip / cleft palate
Diamond-Blackfan anemiaRPL35A3q29Cleft lip / cleft palate
Diamond-Blackfan anemiaRPL51p22.1Cleft lip / cleft palate
Diamond-Blackfan anemiaRPS106p21.31Cleft lip / cleft palate
Diamond-Blackfan anemiaRPS1715q21.3Cleft lip / cleft palate
Diamond-Blackfan anemiaRPS1919q13.2Cleft lip / cleft palate
Diamond-Blackfan anemiaRPS2410q22Cleft lip / cleft palate
Diamond-Blackfan anemiaRPS2612q13Cleft lip / cleft palate
Diamond-Blackfan anemiaRPS72p25Cleft lip / cleft palate
DIAMOND-BLACKFAN ANEMIA 6DBA61p22.1Autism spectrum
DiGeorge 22q11.2 deletion syndromeCOMT22q11.21Autism spectrum
DiGeorge 22q11.2 deletion syndromeTBX122q11.21Autism spectrum
DIGEORGE SYNDROMEDGS22q11.21Autism spectrum
Dihydrolipoamide dehydrogenase deficiencyDLD7q31.1Ataxia spectrum
Dihydropyrimidinase deficiencyDPYS8q22Autism spectrum
Dihydropyrimidine dehydrogenase deficiencyDPYD1p22Autism spectrum
Dilated cardiomyopathy with ataxia syndromeDNAJC193q26.33Ataxia spectrum
Distal arthrogryposis type 1MYBPC112q23.2Arthrogryposis spectrum
Distal arthrogryposis type 1TPM29p13Arthrogryposis spectrum
Distal arthrogryposis type 2B (Sheldon-Hall syndrome)TNNI211p15.5Arthrogryposis spectrum
Distal arthrogryposis type 2B (Sheldon-Hall syndrome)TNNT311p15.5Arthrogryposis spectrum
Distal arthrogryposis type 3PIEZO218p11.22Arthrogryposis spectrum
Distal arthrogryposis type 5ECEL12q37.1Arthrogryposis spectrum
Distal arthrogryposis type 7MYH817p13.1Arthrogryposis spectrum
DISTAL-LESS HOMEOBOX 1DLX12q31.1Autism spectrum
DISTAL-LESS HOMEOBOX 2DLX22q31.1Autism spectrum
Dopamine transmitter deficiencySLC6A35p15.3Autism spectrum
Down syndromeall21p and qTrisomies (Down Syndrome) spectrum
Down syndromeDSCAM21q22Trisomies (Down Syndrome) spectrum
DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDERDYSEIDD11p15.5Autism spectrum
Dyslexia type 1DNAAF415q21.3Dyslexia
Dyslexia type 2DCDC26p22.3Dyslexia
Dyslexia type 2KIAA03196p22.3Dyslexia
Dystrophia myotonica 1 (DM1)MBNL13q25.1Cataracts


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