Version May 2024
| Disease/phenotype, selected distinguishing features | Inheritance | Gene/locus | OMIM designations | MIM number |
| Distal spinal muscular atrophy/distal hereditary motor neuropathy or neuronopathy | ||||
| SMA with respiratory distress or diaphragmatic SMA | AR | IGHMBP2 | SMARD1/HMN6/DSMA1 | 604320 |
| Distal HMN | AR | SIGMAR1 | DSMA2/HMNJ | 605726 |
| Distal SMA | AR | 11q13 | DSMA3/HMN3/HMN4 | 607088 |
| Lower motor neuron syndrome with childhood onset | AR | PLEKHG5 | DSMA4 | 611067 |
| Distal SMA with late adolescent or young adult onset | AR | DNAJB2 | DSMA5 | 614881 |
| Distal HMN/SMA, juvenile | AD | 7q34-q36 | HMN1 | 182960 |
| Distal adult HMN, Type IIA | AD | HSPB8 | HMN2A | 158590 |
| Distal HMN, Type IIB | AD | HSPB1 | HMN2B | 608634 |
| Distal HMN, Type IIC | AD | HSPB3 | HMN2C | 613376 |
| Distal SMA with upper-limb predominance, Type VA | AD | GARS | HMN5 | 600794 |
| Charcot-Marie-Tooth disease 2D | AD | GARS | CMT2D | 601472 |
| Distal SMA with upper-limb predominance, Type VB | AD | BSCL2 | HMN5 | 600794 |
| Silver spastic paraplegia syndrome | AD | BSCL2 | SPG17 | 270685 |
| Distal HMN with vocal cord paralysis | AD | 2q14 | HMN7A | 158580 |
| Distal HMN with vocal cord paralysis | AD | DCTN1 | HMN7B | 607641 |
| Proximal spinal muscular atrophy (+/- distal involvement) | ||||
| SMA with late-onset, Finkel type | AD | VAPB | SMAFK | 608627 |
| SMA, Jokela type | AD | CHCHD10 | SMAJ | 615048 |
| Congenital SMA with contractures/SMA, congenital, nonprogressive, with lower limb predominance | AD | TRPV4 | 600175 | |
| Scapuloperoneal SMA | AD | TRPV4 | SPSMA | 181405 |
| Charcot-Marie-Tooth, Type 2C | AD | TRPV4 | HMSN2C | 606071 |
| SMA with lower extremity predominance 1 (early onset) | AD | DYNC1H1 | SMALED1 | 158600 |
| SMA with lower extremity predominance 2 (early onset) | AD | BICD2 | SMALED2 | 615290 |
| Hereditary motor and sensory neuropathy, Okinawa type | AD | TFG | HMSNO | 604484 |
| Other non-5q spinal and bulbar muscular atrophies, SMA plus types | ||||
| Lethal arthrogryposis with anterior horn cell disease | AR | GLE1 | LAAHD | 611890 |
| Lethal congenital contracture syndrome 1 | AR | GLE1 | LCCS1 | 253310 |
| Pontocerebellar hypoplasia type 1A | AR | VRK1 | PCH1A | 607596 |
| Pontocerebellar hypoplasia type 1B | AR | EXOSC3 | PCH1B | 614678 |
| Brown-Vialetto-Van Laere syndrome 1 | AR | SLC52A3 | BVVLS1 | 211530 |
| Fazio-Londe disease, bulbar palsy | AR | SLC52A3 | 211500 | |
| Brown-Vialetto-Van Laere syndrome 2 | AR | SLC52A2 | BVVLS2 | 614707 |
| Spinal muscular atrophy with progressive myoclonic epilepsy | AR | ASAH1 | SMAPME | 159950 |
| Spinal and bulbar muscular atrophy (Kennedy disease) | XR | AR | SMAX1/SBMA | 313200 |
| Infantile SMA with arthrogryposis | XR | UBA1 | SMAX2 | 301830 |
| Distal SMA, X-linked | XR | ATP7A | SMAX3 | 300489 |
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