Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Torsion dystonia 1, early onset - (AD) | 16.1 | | | | * Torsion dystonia, early onset - EOTD |
|
Myoclonic dystonia 11 - (AD) | 16.2 | | | | * Myoclonus-dystonia syndrome - DYT11 |
|
Hereditary neuropathy, sensory and autonomic (Riley-Day syndrome) - (AR) | 16.3 | | | Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
| | * Neuropathy, hereditary sensory and autonomic, type III - HSAN3 | | * Familial dysautonomia (Riley-Day syndrome) |
|
Hereditary amyloidosis transthyretin-related - (AD) | 16.4 | | | Transthyretin (prealbumin, amyloidosis type I)
|
|
| | * Familial amyloid neuropathy |
|
Fibrosis of extraocular muscles, congenital, 1 - (AD) | 16.5 | | | Kinesin family member 21A
|
|
| | * Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 |
|
Fibrosis of extraocular muscles, congenital, 2 - (AR) | 16.6 | | | Paired-like aristaless homeobox protein 2A
|
|
| | * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 |
|
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement - (AD) | 16.7 | | | | * Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 |
|
Fibrosis of extraocular muscles, congenital, 5 | 16.8 | | | Collagen, type XXV, alpha-1
|
|
| | * Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 |
|
Arthrogryposis, distal, type 1A - (AD) | 16.9 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
Arthrogryposis, distal, type 1B - (AD) | 16.10 | | | Myosin-binding proteinC, slow type
|
|
| | * Arthrogryposis, distal, type 1B - DA1B | | * Lethal Congenital Contracture Syndrome 4 - LCCS4 | | * Congenital myopathy 16 - CMYP16 |
|
Arthrogryposis, distal, type 2A, Freeman-Sheldon syndrome - (AD) | 16.11 | | | Myosine, heavy chain 3, skeletal muscle, embryonic
|
|
| | * Arthrogryposis, distal, type 2A - DA2A | | * Arthrogryposis, distal, type 2B - DA2B |
|
Arthrogryposis, distal, type 2B1, Sheldon-Hall syndrome - (AD) | 16.12 | | | | * Arthrogryposis, distal, type 2B - DA2B |
|
Arthrogryposis, distal, type 2B2 - (AD) | 16.13 | | | | * Arthrogryposis, distal, type 2B - DA2B | | * Nemalin myopathy with distal arthrogryposis |
|
Arthrogryposis, distal, type 2B3 - (AD) | 16.14 | | | Myosine, heavy chain 3, skeletal muscle, embryonic
|
|
| | * Arthrogryposis, distal, type 2A - DA2A | | * Arthrogryposis, distal, type 2B - DA2B |
|
Arthrogryposis, distal, type 2B4 - (AD) | 16.15 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
Arthrogryposis, distal, type 3 - (AD) | 16.16 | | | Piezo-type mechanosensitive ion channel component 2
|
|
| | * Arthrogryposis, distal, type 3 - DA3 | | * Arthrogryposis, distal, type 5 - DA5 |
|
Arthrogryposis, distal, type 5 - (AD) | 16.17 | | | Piezo-type mechanosensitive ion channel component 2
|
|
| | * Arthrogryposis, distal, type 3 - DA3 | | * Arthrogryposis, distal, type 5 - DA5 |
|
Arthrogryposis, distal, type 5D - (AR) | 16.18 | | | Endothelin-converting enzyme like 1
|
|
| | * Arthrogryposis, distal, type 5D - DA5D |
|
Arthrogryposis, distal, type 7 (Trismus- pseudocamptodactyly syndrome) - (AD) | 16.19 | | | Myosin heavy chain, 8, skeletal muscle, perinatal
|
|
| | * Myosin, heavy chain, perinatal - MYH8 |
|
Arthrogryposis, distal, type 10 - (AD) | 16.20 | | | | * Arthrogryposis, distal, type 10 - DA10 |
|
Arthrogryposis, distal type 11 - (AD) | 16.21 | | | | * Arthrogryposis, distal type 11 - DA11 |
|
Arthrogryposis, distal type 12 - (AR) | 16.22 | | | A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15
|
|
| | * Arthrogryposis, distal type 12 - DA12 |
|
Arthrogryposis multiplex congenita with nesprin-1 defect - (AR) | 16.23 | | | Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy related to nesprin-1 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM |
|
Arthrogryposis and BICD2-related neuromuscular disease - (AD) | 16.24 | | | Bicaudal D homolog 2 (Drosophila)
|
|
| | * Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A | | * Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B | | * Arthrogryposis and BICD2-related neuromuscular disease |
|
Arthrogryposis related to ASCC1 - (AR) | 16.25 | | | Activating signal cointegrator 1 complex subunit 1
|
|
| | * Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 | | * Arthrogryposis related to ASCC1 |
|
Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - (AR) | 16.26 | | | Sphingomyelin phosphodiesterase 4, neutral membrane
|
|
| | * Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA |
|
Fetal akinesia deformation sequence 1 - (AR) | 16.27 | | | Muscle, skeletal, receptor tyrosine kinase
|
|
| | * Congenital myasthenic syndrome related to MuSK - CMS1B | | * Fetal akinesia deformation sequance with MUSK defect - FADS1 | | * Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 |
|
Fetal akinesia deformation sequence 3 - (AR) | 16.28 | | | | * Familial limb-girdle myasthenia related to DOK7 - CMS1B | | * Fetal akinesia deformation sequence 3 - FADS3 | | * Myasthenic syndrome, congenital, 10 - CMS10 |
|
Fetal akinesia deformation sequence 2 - (AR) | 16.29 | | | | * Myasthenic syndrome, congenital - CMS1D | | * Fetal akinesia deformation sequence 2 - FADS2 | | * Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 |
|
Fetal akinesia deformation sequence 4 - (AR) | 16.30 | | | | * Fetal akinesia deformation sequence 4 - FADS4 |
|
Fetal akinesia deformation sequence related to RYR1 - (AR) | 16.31 | | | Ryanodine receptor 1 (skeletal)
|
|
| | * centronuclear myopathy, recessive | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Fetal akinesia deformation sequence related to RYR1 | | * Dusty core disease related to RYR1 - DuCD | | * Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A | | * Congenital myopathy 1B, recessive - CMYP1B | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * Central core disease - CCD |
|
Fetal akinesia deformation related to AGRN - (AR) | 16.32 | | | | * Familial limb girdle myasthenia related to agrin - CMS1B | | * Fetal akinesia deformation related to AGRN |
|
Severe foetal hypokinesia related to SCN4A - (AR) | 16.33 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD) | 16.34 | | | Polymerase (DNA directed), gamma(M)
|
|
| | * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO | | * spinocerebellar ataxia with epilepsy, included - SCAE | | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 | | * Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B | | * Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 - (AD) | 16.35 | | | Mitochondrial carrier; adenine nucleotide translocator(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 | | * Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A | | * Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 - (AD) | 16.36 | | | | * Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA | | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 - (AD) | 16.37 | | | Mitochondrial DNA polymerase, accessory subunit(M)
|
|
| | * progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 - (AD) | 16.38 | | | Ribonucleotide reductase M2 B (TP53 inducible)(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 | | * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - (AD) | 16.39 | | | DNA replication helicase 2(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - (AR) | 16.40 | | | Polymerase (DNA directed), gamma(M)
|
|
| | * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO | | * spinocerebellar ataxia with epilepsy, included - SCAE | | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 | | * Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B | | * Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - (AR) | 16.41 | | | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - (AR) | 16.42 | | | Thymidine kinase 2, mitochondrial(M)
|
|
| | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - (AR) | 16.43 | | | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 | | * Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - (AR) | 16.44 | | | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 |
|
Mitochondrial DNA depletion syndrome 1 (MNGIE type) - (AR) | 16.45 | | | | * Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 |
|
Mitochondrial DNA depletion syndrome 2 (myopathic type) - (AR) | 16.46 | | | Thymidine kinase 2, mitochondrial(M)
|
|
| | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 |
|
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - (AR) | 16.47 | | | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 | | * Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 |
|
Mitochondrial DNA depletion syndrome 4A (Alpers type) - (AR) | 16.48 | | | Polymerase (DNA directed), gamma(M)
|
|
| | * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO | | * spinocerebellar ataxia with epilepsy, included - SCAE | | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 | | * Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B | | * Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A |
|
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - (AR) | 16.49 | | | Polymerase (DNA directed), gamma(M)
|
|
| | * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO | | * spinocerebellar ataxia with epilepsy, included - SCAE | | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 | | * Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B | | * Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A |
|
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - (AR) | 16.50 | | | Succinate-CoA ligase, ADP-forming, beta subunit(M)
|
|
| | * Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 |
|
Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - (AR) | 16.51 | | | Ribonucleotide reductase M2 B (TP53 inducible)(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 | | * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A |
|
Mitochondrial DNA depletion syndrome 8B (MNGIE type) - (AR) | 16.52 | | | Ribonucleotide reductase M2 B (TP53 inducible)(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 | | * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A |
|
Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - (AR) | 16.53 | | | Succinate-CoA ligase, alpha subunit(M)
|
|
| | * Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 |
|
Mitochondrial DNA depletion syndrome 11 - (AR) | 16.54 | | | Mitochondrial genome maintenance exonuclease 1(M)
|
|
| | * Mitochondrial DNA depletion syndrome 11 - MTDPS11 |
|
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - (AD) | 16.55 | | | Mitochondrial carrier; adenine nucleotide translocator(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 | | * Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A | | * Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B |
|
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - (AR) | 16.56 | | | Mitochondrial carrier; adenine nucleotide translocator(M)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 | | * Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A | | * Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B |
|
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - (AR) | 16.57 | | | F-box and leucine-rich repeat protein 4
|
|
| | * Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 |
|
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - (AR) | 16.58 | | | | * Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 | | * Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness |
|
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - (AR) | 16.59 | | | Solute carrier family 25 member 42(M)
|
|
| | * Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN | | * Mitochondrial myopathy |
|
Optic atrophy with or without deafness, ophtalmoplegia, myopathy, ataxia and neuropathy - (AD) | 16.60 | | | | * Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 | | * Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness |
|
Myopathy, lactic acidosis, and sideroblastic anemia 1 - (AR) | 16.61 | | | Pseudouridylate synthase 1(M)
|
|
| | * Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 |
|
Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR) | 16.62 | | | Tyrosyl-tRNA synthetase 2, mitochondrial(M)
|
|
| | * Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 |
|
Isolated mitochondrial myopathy - (AD) | 16.63 | | | Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
|
|
| | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 | | * late-onset spinal motor neuronopathy, Jokela type - SMAJ |
|
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD) | 16.64 | | | Family with sequence similarity 111 member B
|
|
| | * Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP |
|
Combined Oxidative phosphorylation Deficiency 6 - (XL) | 16.65 | | | Apoptosis-inducing factor, Mitochondria-associated 1(M)
|
|
| | * Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD | | * Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK | | * Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD | | * Combined Oxidative phosphorylation Deficiency 6 - COXPD6 | | * Cerebellar ataxia with neuropathy, hearing loss and intellectual disability |
|
Combined oxidative phosphorylation deficiency 43 - (AR) | 16.66 | | | Translocase of inner mitochondrial membrane 22(M)
|
|
| | * Combined oxidative phosphorylation deficiency 43 - COXPD43 |
|
Combined oxidative phosphorylation deficiency 44 - (AR) | 16.67 | | | | * Combined oxidative phosphorylation deficiency 44 - COXPD44 |
|
Combined oxidative phosphorylation deficiency 48 - (AR) | 16.68 | | | NOP2/SUN RNA Methyltransferase Family Member 3
|
|
| | * Combined oxidative phosphorylation deficiency - COXPD48 |
|
Combined oxidative phosphorylation deficiency 50 - (AR) | 16.69 | | | Mitochondrial ribosomal protein S25(M)
|
|
| | * Combined oxidative phosphorylation deficiency 50 - COXPD50 |
|
Mitochondrial complex IV deficiency, nuclear type 18 - (AR) | 16.70 | | | Cytochrome c-oxidase, subunit 6A2(M)
|
|
| | * Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 |
|
Mitochondrial myopathy with severe neurological manifestations - (AR) | 16.71 | | | | * Mitochondrial myopathy with severe neurological manifestations |
|
Infantile-onset multisystem disease with progressive muscle weakness - (AR) | 16.72 | | | Peptidyl-tRNA Hydrolase 2(M)
|
|
| | * Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD |
|
Myopathy, mitochondrial and cerebellar ataxia - (AR) | 16.73 | | | Misato homolog 1 (Drosophila)(M)
|
|
| | * Myopathy, mitochondrial and cerebellar ataxia - MMYAT |
|
Coenzyme Q10 deficiency 1 - (AR) | 16.74 | | | | * Coenzyme Q10 deficiency 1 - COQ10D1 |
|
Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - (AR) | 16.75 | | | | * spinocerebellar ataxia, autosomal recessive 9 - SCAR9 | | * Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 |
|
Coenzyme Q10 deficiency 5 - (AR) | 16.76 | - | | | * Coenzyme Q10 deficiency 5 - COQ10D5 |
|
Coenzyme Q10 deficiency 6 - (AR) | 16.77 | | | | * Coenzyme Q10 deficiency 6 - COQ10D6 |
|
Coenzyme Q10 deficiency 7 - (AR) | 16.78 | | | | * Coenzyme Q10 deficiency 7 - COQ10D7 |
|
Coenzyme Q10 deficiency 8 - (AR) | 16.79 | | | | * Coenzyme Q10 deficiency 8 - COQ10D8 | | * Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 |
|
Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - (AR) | 16.80 | | | | * Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL |
|
Spectraplakinopathy - (AR) | 16.81 | | | Microtubule-actin cross-linking factor 1
|
|
| |
Mitochondrial complex I deficiency, nuclear type 29 - (AR) | 16.82 | | | Transmembrane protein 126B(M)
|
|
| | * Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 |
|
Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (XL) | 16.83 | | | | * Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features |
|
Segmental amyoplasia with Distal Arthrogryposis - (AD) | 16.84 | | | Myosin Light Chain Phosphorylatable Fast Skeletal Muscle
|
|
| | * Segmental amyoplasia with Distal Arthrogryposis - DA1C |
|
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - (AR) | 16.85 | | | | * Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD |
|
Mitochondrial DNA depletion syndrome 20 (MNGIE type) - (AR) | 16.86 | | | Ligase III DNA ATP-Dependent
|
|
| | * Mitochondrial DNA depletion syndrome 20 (MNGIE type) - MTDPS20 |
|
Mitochondrial complex IV deficiency, nuclear type 22 - (AR) | 16.87 | | | Cytochrome c Oxidase Assembly Factor 16
|
|
| | * Mitochondrial complex IV deficiency - MC4DN22 |
|
Mitochondrial myopathy related to SLC25A26 - (AR) | 16.88 | | | Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
|
|
| | * Mitochondrial myopathy related to SLC25A26 |
|
Mitochondrial myopathy and multiple mtDNA deletions - (AR) | 16.89 | | | Endonuclease G, mitochondrial
|
|
| | * Mitochondrial myopathy and multiple mtDNA deletions |
|