Syndrome |
Gene |
Chromosome |
Location |
Category |
Darier disease | ATP2A2 | 12 | q24.11 | Epilepsy and seizures | |
DCN1 DOMAIN-CONTAINING PROTEIN 1 | DCUN1D1 | 3 | q26.33 | Autism spectrum | |
Deafness-dystonia-optic neuronopathy syndrome | TIMM8 | 23 | q22.1 | Ataxia spectrum | |
DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG | DEAF1 | 11 | p15.5 | Autism spectrum | |
Dentatorubral-pallidoluysian atrophy | ATN1 | 12 | p13.31 | Ataxia spectrum | |
Depression anxiety and eating disorders | FEV | 2 | q35 | Panic phobia anxiety | |
Desanto-Shinawi syndrome | DESSH | 10 | p12.1 | Autism spectrum | |
Desanto-Shinawi syndrome | WAC | 10 | p12.1 | Autism spectrum | |
Desmosterolosis | DHCR24 | 1 | p32.3 | Arthrogryposis spectrum | |
Developmental delay intellectual disability obesity and dysmorphic features | PHIP | 6 | q14.1 | Autism spectrum | |
DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY OBESITY DYSMORPHIC FEATURES | DIDOD | 6 | q14.1 | Autism spectrum | |
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM | DEDDFA | 7 | q22.1 | Autism spectrum | |
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT | DDVIBA | 22 | q13.2 | Autism spectrum | |
D-GLYCERIC ACIDURIA | GLYCTK | 3 | p21.2 | Autism spectrum | |
Diabetes mellitus neonatal with congenital hypothyroidism | GLIS3 | 9 | p24.2 | Diabetes | |
Diabetes mellitus type 2 | TCF7L2 | 10 | q25.2-3 | Autism spectrum | |
Diamond-Blackfan anemia | RPL11 | 1 | p35-36.1 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPL35A | 3 | q29 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPL5 | 1 | p22.1 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPS10 | 6 | p21.31 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPS17 | 15 | q21.3 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPS19 | 19 | q13.2 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPS24 | 10 | q22 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPS26 | 12 | q13 | Cleft lip / cleft palate | |
Diamond-Blackfan anemia | RPS7 | 2 | p25 | Cleft lip / cleft palate | |
DIAMOND-BLACKFAN ANEMIA 6 | DBA6 | 1 | p22.1 | Autism spectrum | |
DiGeorge 22q11.2 deletion syndrome | COMT | 22 | q11.21 | Autism spectrum | |
DiGeorge 22q11.2 deletion syndrome | TBX1 | 22 | q11.21 | Autism spectrum | |
DIGEORGE SYNDROME | DGS | 22 | q11.21 | Autism spectrum | |
Dihydrolipoamide dehydrogenase deficiency | DLD | 7 | q31.1 | Ataxia spectrum | |
Dihydropyrimidinase deficiency | DPYS | 8 | q22 | Autism spectrum | |
Dihydropyrimidine dehydrogenase deficiency | DPYD | 1 | p22 | Autism spectrum | |
Dilated cardiomyopathy with ataxia syndrome | DNAJC19 | 3 | q26.33 | Ataxia spectrum | |
Distal arthrogryposis type 1 | MYBPC1 | 12 | q23.2 | Arthrogryposis spectrum | |
Distal arthrogryposis type 1 | TPM2 | 9 | p13 | Arthrogryposis spectrum | |
Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | TNNI2 | 11 | p15.5 | Arthrogryposis spectrum | |
Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | TNNT3 | 11 | p15.5 | Arthrogryposis spectrum | |
Distal arthrogryposis type 3 | PIEZO2 | 18 | p11.22 | Arthrogryposis spectrum | |
Distal arthrogryposis type 5 | ECEL1 | 2 | q37.1 | Arthrogryposis spectrum | |
Distal arthrogryposis type 7 | MYH8 | 17 | p13.1 | Arthrogryposis spectrum | |
DISTAL-LESS HOMEOBOX 1 | DLX1 | 2 | q31.1 | Autism spectrum | |
DISTAL-LESS HOMEOBOX 2 | DLX2 | 2 | q31.1 | Autism spectrum | |
Dopamine transmitter deficiency | SLC6A3 | 5 | p15.3 | Autism spectrum | |
Down syndrome | all | 21 | p and q | Trisomies (Down Syndrome) spectrum | |
Down syndrome | DSCAM | 21 | q22 | Trisomies (Down Syndrome) spectrum | |
DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDER | DYSEIDD | 11 | p15.5 | Autism spectrum | |
Dyslexia type 1 | DNAAF4 | 15 | q21.3 | Dyslexia | |
Dyslexia type 2 | DCDC2 | 6 | p22.3 | Dyslexia | |
Dyslexia type 2 | KIAA0319 | 6 | p22.3 | Dyslexia | |
Dystrophia myotonica 1 (DM1) | MBNL1 | 3 | q25.1 | Cataracts | |