| Gene |
Chromosome |
Location |
Syndrome |
Category |
| D2HGDH | 2 | q37.3 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| D3S196 | 13 | q12.2-q13 | Mobius Syndrome | Autism spectrum | |
| DAG1 | 3 | p21.31 | Walker-Warburg syndrome | Microphthalmia | |
| DARS2 | 1 | q25.1 | Leukoencephalopathy with brainstem/spinal cord involvement | Ataxia spectrum | |
| DBA6 | 1 | p22.1 | DIAMOND-BLACKFAN ANEMIA 6 | Autism spectrum | |
| DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome | Hypothyroidism | |
| DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome - diabetes mellitus | Diabetes | |
| DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome with alopecia totalis | Alopecia | |
| DCDC2 | 6 | p22.3 | Dyslexia type 2 | Dyslexia | |
| DCLRE1C | 10 | p13 | Omenn syndrome | Alopecia | |
| DCN | 12 | q21.33 | Congenital stromal corneal dystrophy | Photophobia - sensitivity to light | |
| DCTN1 | 2 | p13.1 | ALS | ALS - amyotrophic lateral sclerosis | |
| DCUN1D1 | 3 | q26.33 | DCN1 DOMAIN-CONTAINING PROTEIN 1 | Autism spectrum | |
| DCX | 23 | q23 | Microcephaly - other | Microcephaly | |
| DDVIBA | 22 | q13.2 | DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT | Autism spectrum | |
| DDX11 | 12 | p11 | Warsaw breakage syndrome | Microcephaly | |
| DDX3X | 23 | p11.4 | Mental retardation X-linked 94 (MRX94) | Autism spectrum | |
| DEAF1 | 11 | p15.5 | DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG | Autism spectrum | |
| DEDDFA | 7 | q22.1 | DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM | Autism spectrum | |
| DEPDC5 | 22 | q12.3 | Epilepsy familial focal with variable foci (FFEVF) | Autism spectrum | |
| DEPDC5 | 22 | q12.2 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
| DES | 2 | q35 | Myofibrillar myopathy | Muscular dystrophies | |
| DESSH | 10 | p12.1 | Desanto-Shinawi syndrome | Autism spectrum | |
| DGS | 22 | q11.21 | DIGEORGE SYNDROME | Autism spectrum | |
| DHCR24 | 1 | p32.3 | Desmosterolosis | Arthrogryposis spectrum | |
| DHCR7 | 11 | q13.4 | Microcephaly - other | Microcephaly | |
| DHCR7 | 11 | q13.4 | Smith-Lemli-Opitz syndrome | Autism spectrum | |
| DHODH | 16 | q22 | Miller syndrome | Cleft lip / cleft palate | |
| DHRS4 | 14 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| DHRS4L1 | 14 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| DHRS4L2 | 14 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| DICER1 | 14 | q32.13 | Thyroid disorders | Hypothyroidism | |
| DIDOD | 6 | q14.1 | DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY OBESITY DYSMORPHIC FEATURES | Autism spectrum | |
| DIP2C | 10 | p15.3 | Autism 18 (AUTS18) | Autism spectrum | |
| DISP1 | 1 | q41-a42 | Fryn`s Syndrome - 1Q41-Q42 microdeletion | Autism spectrum | |
| DISP1 | 1 | q41 | Microcephaly - other | Microcephaly | |
| DLAT | 11 | q23.1 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
| DLD | 7 | q31.1 | Dihydrolipoamide dehydrogenase deficiency | Ataxia spectrum | |
| DLG1 | 3 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
| DLG3 | 3 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
| DLX1 | 2 | q31.1 | DISTAL-LESS HOMEOBOX 1 | Autism spectrum | |
| DLX2 | 2 | q31.1 | DISTAL-LESS HOMEOBOX 2 | Autism spectrum | |
| DMD | 23 | p21.1 | Cerebral palsy - unassigned | Cerebral palsy | |
| DMPK | 19 | q13.32 | Arthrogryposis - other | Arthrogryposis spectrum | |
| DNA2 | 10 | q21.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| DNAAF4 | 15 | q21.3 | Dyslexia type 1 | Dyslexia | |
| DNAH11 | 7 | p15.3 | heterotaxy syndrome | Heterotaxy | |
| DNAH5 | 5 | p15.2 | heterotaxy syndrome | Heterotaxy | |
| DNAI1 | 9 | p13.3 | heterotaxy syndrome | Heterotaxy | |
| DNAJC19 | 3 | q26.33 | Dilated cardiomyopathy with ataxia syndrome | Ataxia spectrum | |
| DNAJC5 | 20 | q13.33 | CLN4 disease | Ataxia spectrum | |
| DNAJC6 | 1 | p31.3 | Parkinson disease early onset | Parkinsonism |
| DNM1L | 12 | p11.21 | Alzheimer - late onset | Alzheimer Syndrome | |
| DNMT1 | 19 | p13.2 | Autosomal dominant cerebellar ataxia deafness and narcolepsy | Ataxia spectrum | |
| DNMT3A | 2 | p23.3 | Tatton-Brown-Rahman syndrome | Asthma | |
| DOCK3 | 3 | p21.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| DOCK8 | 9 | p24.3 | Autosomal recessive hyper-IgE syndrome (AR-HIES) | Asthma | |
| DPP6 | 7 | q36.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| DPYD | 1 | p22 | Dihydropyrimidine dehydrogenase deficiency | Autism spectrum | |
| DPYD | 1 | p21.3 | Microcephaly - other | Microcephaly | |
| DPYS | 8 | q22 | Dihydropyrimidinase deficiency | Autism spectrum | |
| DQ584669 | 4 | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
| DRD4 | 11 | p15.5 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| DRD5 | 4 | p16.1 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| DSC2 | 18 | q12.1 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| DSCAM | 21 | q22 | Down syndrome | Trisomies (Down Syndrome) spectrum | |
| DSG2 | 18 | q12.1 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| DSG4 | 18 | q12.1 | Autosomal recessive hypotrichosis | Alopecia | |
| DSP | 6 | p24.3 | LAEB lethal acantholytic epidermolysis bullosa | Alopecia | |
| DSP | 6 | p24 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| DTNBP1 | 6 | p22.3 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| DUOX2 | 15 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
| DUOXA2 | 15 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
| DYNC1H1 | 14 | q32.31 | Mental retardation autosomal dominant 13 (MRD13) | Autism spectrum | |
| DYRK1A | 21 | q22.13 | Mental retardation autosomal dominant 07 (MRD7) | Autism spectrum | |
| DYSEIDD | 11 | p15.5 | DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDER | Autism spectrum | |