| Phenotype | Associated dynein or dynein-related gene variantsa | Selected associated publications (PubMed ID) | OMIM MIM number (phenotype subtype) |
|---|---|---|---|
| Primary ciliary dyskinesia (PCD): abnormal ciliary motility, respiratory distress, sinusitis, otitis media, bronchiectasis, laterality defects, infertility | DNAH1 | 11371505 20301301 24360805 | 617577 (CILD37) |
| DNAH5 | 11062149 11788826 | 608644 (CILD3) | |
| DNAH9 | 30471717 30471718 | 618300 (CILD40) | |
| DNAH11 | 12142464 | 611884 (CILD7) | |
| DNAI1 | 10577904 | 604366 (CILD1) | |
| DNAI2 | 18950741 | 612444 (CILD9) | |
| DNAL1 | 21496787 | 614017 (CILD16) | |
| NME8 (alias DNAI8 and TXNDC3) | 17360648 | 610852 (CILD6) | |
| ODAD1 | 23261302 23261303 23506398 30291279 32855706 | 615067 (CILD20) | |
| ODAD2 | 23849778 24203976 25186273 | 615451 (CILD23) | |
| ODAD3 | 24067530 25192045 25224326 30504913 31383820 | 616037 (CILD30) | |
| ODAD4 | 27486780 | 617092 (CILD35) | |
| DNAAF1 | 19944400 19944405 27261005 | 613193 (CILD13) | |
| DNAAF2 | 31107948 32638265 34785929 | 612518 (CILD10) | |
| DNAAF3 | 22387996 31186518 | 606763 (CILD2) | |
| DNAAF4 | 23872636 | 615482 (CILD25) | |
| DNAAF5 | 29358401 25232951 23040496 | 614874 (CILD18) | |
| DNAAF6 | 32170493 | 300991 (CILD36) | |
| ZMYND10 | 23604077 23891469 23891471 | 615444 (CILD22) | |
| LRRC6 | 23122589 | 614935 (CILD19) | |
| LRRC56 | 30388400 | 618254 (CILD39) | |
| SPAG1 | 24055112 26228299 | 615505 (CILD28) | |
| CFAP298 | 24094744 | 615500 (CILD26) | |
| CFAP300 | 29727692 29727693 | 618063 (CILD38) | |
| Spinal muscular atrophy (SMALED type 1): lower limb atrophy and weakness, mild to moderate cognitive impairment | DYNC1H1 | 24307404 25609763 32788638 | 158600 (SMALED) |
| BICD2 | 26998597 29353221 32709491 | 615290 (SMALED2A) 618291 (SMALED2B) | |
| Charcot-Marie-Tooth type 2: distal lower limb weakness, abnormal gait | DYNC1H1 | 24307404 20697106 22459677 22847149 33242470 | 614228 (CMT2O) |
| DNAH10 | 26517670 | Not listed in OMIM | |
| Asphyxiating thoracic dystrophies (including Jeune syndrome): skeletal abnormalities that may include short ribs and a chest wall deformity, shortened arm and leg bones, an unusually shaped pelvis, polydactyly, renal and hepatic disease (more rarely, retinal disease) | DYNC2H1 | 19442771 26874042 27925158 31935347 | 613091 (SRTD3) |
| DYNC2I1 | 23910462 26874042 29271569 | 615503 (SRTD8) | |
| DYNC2I2 | 24183449 24183451 | 615633 (SRTD11) | |
| DYNC2LI1 | 26130459 | 617088 (SRTD15) | |
| DYNLT2B | 25830415 26044572 28475963 | 617405 (SRTD17) | |
| Retinal degeneration | DYNC2H1 | 32753734 | Not listed in OMIM |
| Nonsyndromic rod-cone dystrophy | DYNC2I2 | 33124039 | Not listed in OMIM |
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | DYNC1I2 | 31079899 | 618492 (NEDMIBA) |
| Mirror movements type 3: movements on one side of the body are involuntarily mirrored on the other side of the body | DNAL4 | 25098561 | 616059 (MRMV3) |
| Mental retardation autosomal dominant 13 | DYNC1H1 | 23603762 22368300 | 614563 (MRD13) |
| Spermatogenic failure | DNAH1 | 24360805 33989052 | 617576 (SPGF18) |
| DNAH2 | 30811583 | 619094 (SPGF45) | |
| DNAH8 | 32619401 | 619095 (SPGF46) | |
| DNAH17 | 31178125 31658987 31841227 | 618643 (SPGF39) | |
| Lissencephaly: developmental delay, myoclonic jerks and spasms, seizures, hypotonia, microcephaly, dysmorphic facies | PAFAH1B1 | 32692650 20301752 32341547 28886386 | 601545 (LIS) |
| Seckel syndrome: growth retardation, microcephaly, developmental delay | NIN | 27053665 22933543 | 614851 (SCKL7) |
| Phenotype | Associated dynein or dynein-related gene variants | Selected associated publications (PubMed ID) | OMIM MIM number (phenotype subtype) |
|---|---|---|---|
| 11371505 20301301 24360805 | 617577 (CILD37) | ||
| 11062149 11788826 | 608644 (CILD3) | ||
| 30471717 30471718 | 618300 (CILD40) | ||
| 12142464 | 611884 (CILD7) | ||
| 10577904 | 604366 (CILD1) | ||
| 18950741 | 612444 (CILD9) | ||
| 21496787 | 614017 (CILD16) | ||
| 17360648 | 610852 (CILD6) | ||
| 23261302 23261303 23506398 30291279 32855706 | 615067 (CILD20) | ||
| 23849778 24203976 25186273 | 615451 (CILD23) | ||
| 24067530 25192045 25224326 30504913 31383820 | 616037 (CILD30) | ||
| 27486780 | 617092 (CILD35) | ||
| 19944400 19944405 27261005 | 613193 (CILD13) | ||
| 31107948 32638265 34785929 | 612518 (CILD10) | ||
| 22387996 31186518 | 606763 (CILD2) | ||
| 23872636 | 615482 (CILD25) | ||
| 29358401 25232951 23040496 | 614874 (CILD18) | ||
| 32170493 | 300991 (CILD36) | ||
| 23604077 23891469 23891471 | 615444 (CILD22) | ||
| 23122589 | 614935 (CILD19) | ||
| 30388400 | 618254 (CILD39) | ||
| 24055112 26228299 | 615505 (CILD28) | ||
| 24094744 | 615500 (CILD26) | ||
| 29727692 29727693 | 618063 (CILD38) | ||
| 24307404 25609763 32788638 | 158600 (SMALED) | ||
| 26998597 29353221 32709491 | 615290 (SMALED2A) 618291 (SMALED2B) | ||
| 24307404 20697106 22459677 22847149 33242470 | 614228 (CMT2O) | ||
| 26517670 | Not listed in OMIM | ||
| 19442771 26874042 27925158 31935347 | 613091 (SRTD3) | ||
| 23910462 26874042 29271569 | 615503 (SRTD8) | ||
| 24183449 24183451 | 615633 (SRTD11) | ||
| 26130459 | 617088 (SRTD15) | ||
| 25830415 26044572 28475963 | 617405 (SRTD17) | ||
| 32753734 | Not listed in OMIM | ||
| 33124039 | Not listed in OMIM | ||
| 31079899 | 618492 (NEDMIBA) | ||
| 25098561 | 616059 (MRMV3) | ||
| 23603762 22368300 | 614563 (MRD13) | ||
| 24360805 33989052 | 617576 (SPGF18) | ||
| 30811583 | 619094 (SPGF45) | ||
| 32619401 | 619095 (SPGF46) | ||
| 31178125 31658987 31841227 | 618643 (SPGF39) | ||
| 32692650 20301752 32341547 28886386 | 601545 (LIS) | ||
| 27053665 22933543 | 614851 (SCKL7) |
Note that for some of these phenotypes, there are several variants with varying degrees of severity, and different genes may be associated with different types of these genetic conditions.
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