Inheritance	Disease phenotype	Key references	Gene symbol (chromosome) protein
AR	Abetalipoproteinemia	8361539 8533758	MTTP (4q23) microsomal triglyceride transfer protein
AR	Acetylcholine receptor deficiency	10562302	CHRNB1 (17p13.1) cholinergic receptor, nicotinic, beta 1 muscle
AR	Acetylcholine receptor deficiency	12499478	CHRND (2q33-q34) cholinergic receptor, nicotinic, delta
AR	Acetylcholine receptor deficiency	8957026 9158150	CHRNE (17p13-p12) cholinergic receptor, nicotinic, epsilon
AR	Acyl-CoA dehydrogenase (very long chain) deficiency (VLCAD deficiency)	10077518 7479827 7668252 8466512	ACADVL (17p13) acyl-Coenzyme A dehydrogenase, very long chain
AR	Amyotrophic lateral sclerosis, juvenile	7920663	ALS2 (2q33.2) alsin
AR	Arthrogryposis multiplex congenita with nesprin-1 defect	19542096	SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1)
AR	Ataxia oculomotor apraxia 1	11586299 11586300	APTX (9p13.3) aprataxin
AR	Ataxia oculomotor Apraxia 2	14770181	SETX (9q34.13) senataxin
AR	Ataxia telangiectasia	3200306 7792600	ATM (11q22.3) ataxia telangiectasia mutated
AR	Ataxia telangiectasia-like disorder	10612394 15574463	MRE11A (11q21) MRE11 meiotic recombination 11 homolog A
AR	Autosomal recessive spastic ataxia 2	17273843	? - (17p13)
AR	Autosomal recessive spastic ataxia 3 (with leukoencephalopathy)	16672289	? - (2q33-34)
AR	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	10610707 10655055 9829277	SACS (13q12) sacsin
AR	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	10610707 10655055 9829277	SACS (13q12) sacsin
AR	Autosomal recessive spinocerebellar ataxia, 3	11175288	? - (6p23-p21)
AR	Autosomal recessive spinocerebellar ataxia, 4	Abstract	? - (1p36)
AR	Autosomal recessive spinocerebellar ataxia, 5	2002	? - (15q24-q26)
AR	Autosomal recessive spinocerebellar ataxia, 6	12811539	? - (20q11-q13)
AR	Autosomal recessive spinocerebellar ataxia, 7	15520412	? - (11p15)
AR	Autosomal recessive spinocerebellar ataxia, 8	17159980	SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1)
AR	Autosomal recessive spinocerebellar ataxia, 9 (with ubiquinone deficiency)	18319072 18319074	CABC1 (1q42.13) chaperone, ABC1 activity of bc1 complex homolog (S. pombe)
AR	Bethlem myopathy (recessive)	19949035	COL6A2 (21q22.3) alpha 2 type VI collagen
AR	Carnitine acylcarnitine translocase deficiency	10697964 9399886	SLC25A20 (3p21.31) carnitine-acylcarnitine translocase
AR	Carnitine palmitoyl-transferase deficiency	1988962 4745596 8358442	CPT2 (1p32) carnitine palmitoyltransferase II
AR	Central core disease, recessive (transient multiminicore myopathy)	12112081 12136074	RYR1 (19q13.1) ryanodine receptor 1 (skeletal)
AR	Centronuclear myopathy, recessive	17676042	BIN1 (2q14) amphiphysin
AR	Centronuclear myopathy, recessive	20839240	RYR1 (19q13.1) ryanodine receptor 1 (skeletal)
AR	Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2A	10441578 17467691	LMNA (1q21.2-q21.3) lamin A/C
AR	Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2B	11112660 19290556	MED25 (19q13) mediator complex subunit 25
AR	Charcot-Marie-Tooth neuropathy Type 4A	11743579 8268915	GDAP1 (8q13-q21) ganglioside-induced differentiation-associated protein 1
AR	Charcot-Marie-Tooth neuropathy Type 4B1	10802647 8817346	MTMR2 (11q22) myotubularin-related protein 2
AR	Charcot-Marie-Tooth neuropathy Type 4B2	12554688 12687498	SBF2 (11p15.4) SET binding factor 2
AR	Charcot-Marie-Tooth neuropathy Type 4C	8894708	SH3TC2 (5q32) KIAA1985 protein
AR	Charcot-Marie-Tooth neuropathy Type 4D (HMSN Lom, with deafness)	10831399 8841199	NDRG1 (8q24.3) N-myc downstream regulated gene 1
AR	Charcot-Marie-Tooth neuropathy Type 4F	10848494 11133365	PRX (19q13) periaxin
AR	Charcot-Marie-Tooth neuropathy Type 4G (type Russe)	10915613	? - (10q22)
AR	Charcot-Marie-Tooth neuropathy Type 4H	15744041 17564959 17564972	FGD4 (12p11.21) actin-filament binding protein Frabin
AR	Charcot-Marie-Tooth neuropathy Type 4J	17572665	FIG4 (6q21) polyphosphoinositide phosphatase activity
AR	Congenital cataracts, facial dysmorphism and neuropathy	14517542	CTDP1 (18q23) CTD phosphatase subunit 1
AR	Congenital fibrosis of the extraocular muscles	11600883 9683611	PHOX2A (11q13.2) paired-like aristaless homeobox protein 2A
AR	Congenital lethal myopathy	19026398	CNTN1 (12q11-q12) contactin-1
AR	Congenital muscle dystrophy with joint hyperlaxity	16760198	? - (3p23-21)
AR	Congenital muscle dystrophy with mitochondrial structural abnormalities (megaconial type)	21665002	CHKB (22q13) choline kinase beta
AR	Congenital muscular dystrophy and abnormal glycosylation of dystroglycan	11592034 12654965 19299310	FKRP (19q13.33) fukutin-related protein
AR	Congenital muscular dystrophy and abnormal glycosylation of dystroglycan	12966029 19299310	LARGE (22q12.3-q13.1) like-glycosyltransferase
AR	Congenital muscular dystrophy with integrin defect	9590299	ITGA7 (12q13) integrin alpha 7 precursor
AR	Congenital muscular dystrophy with merosin deficiency	10677302	? - (1q42)
AR	Congenital muscular dystrophy with merosin deficient	7550355 7833925 8000914 9158149	LAMA2 (6q22-q23) laminin alpha 2 chain of merosin
AR	Congenital musuclar dystrophy with telethonin defect	21530252	TCAP (17q12) telethonin
AR	Congenital myasthenic syndrome with agrin deficiency	19631309	AGRN (1p36.33) Agrin
AR	Congenital myasthenic syndrome with Beta2-laminin deficiency	19251977	LAMB2 (3p21) laminin, beta 2 (laminin S)
AR	Congenital myasthenic syndrome with choline acetyltransferase deficiency	11172068 1840566	CHAT (10q11.2) choline acetyltransferase isoform
AR	Congenital myasthenic syndrome with end-plate acetylcholin-esterase deficiency	9758617	COLQ (3p25) acetylcholinesterase collagen-like tail subunit
AR	Congenital myasthenic syndrome with MuSK deficiency	15496425	MUSK (9q31.3-q32) skeletal muscle receptor tyrosine kinase
AR	Congenital myasthenic syndrome with rapsyn deficiency	11791205 12651869	RAPSN (11p11.2-p11.1) rapsyn
AR	Congenital myasthenic syndrome, type Ia1	9097970	? - (17q13)
AR	Congenital skeletal myopathy and fatal cardiomyopathy	19858127	MYBPC3 (11p11.2) cardiac myosin binding protein-C
AR	Dejerine-Sottas hypertrophic neuropathy, recessive	11133365	PRX (19q13) periaxin
AR	Dilated cardiomyopathy due to fukutin defect	17036286	FKTN (9q31-q33) fukutin
AR	Distal myopathy with nebulin defect	17525139	NEB (2q22) nebulin
AR	Distal myopathy with rimmed vacuoles (Nonaka) and Hereditary inclusion body myopathy	11528398 8789455 9124799	GNE (9p13.3) UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
AR	Distal recessive myopathy (Miyoshi myopathy)	7723968 9731526	DYSF (2p12-14) dysferlin
AR	Early onset calf distal myopathy	20096397	ANO5 (11p14-12) anoctamin 5
AR	Emery-Dreifuss muscular dystrophy, autosomal recessive	10739764	LMNA (1q21.2-q21.3) lamin A/C
AR	Epidermolysis bullosa simplex associated with late-onset muscular dystrophy	8636409 8696340	PLEC1 (8q24) plectin 1, intermediate filament binding protein 500kDa
AR	Escobar syndrome (multiple pterygium syndrome)	16826520 16826531	CHRNG (2q33-q34) cholinergic receptor, nicotinic, gamma polypeptide
AR	Familial amyotrophic lateral sclerosis	11706389	? - (18q21)
AR	Familial amyotrophic lateral sclerosis (recessive)	7647793	SOD1 (21q22.1) superoxide dismutase 1, soluble
AR	Familial dysautonomia (Riley-Day syndrome)	8102296	IKBKAP (9q31-q33) inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
AR	Familial limb girdle myasthenia with tubular aggregates	21310273	GFPT1 (2p12-p15) glutamine-fructose-6-phosphate transaminase 1
AR	Familial limb-girdle myasthenia	16917026 18626973	DOK7 (4p16.2) docking protein 7
AR	Fast channel syndrome	10195214	CHRNA1 (2q24-q32) cholinergic receptor, nicotinic, alpha polypeptide 1
AR	Fast channel syndrome	11435464	CHRND (2q33-q34) cholinergic receptor, nicotinic, delta
AR	Fast channel syndrome	8755487	CHRNE (17p13-p12) cholinergic receptor, nicotinic, epsilon
AR	Friedreich ataxia 1	10543403 2899844 8596916	FXN (9q13-q21.1) frataxin
AR	Friedreich ataxia 2	11523563	? - (9p23-p11)
AR	Friedreich ataxia with selective vitamin E deficiency	7566022 7719340 8252047	TTPA (8q13.1-q13.3) tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
AR	Fukuyama congenital muscular dystrophy	8275093 9690476	FKTN (9q31-q33) fukutin
AR	Giant axonal neuropathy	10732815 11062483	GAN (16q24.1) gigaxonin
AR	Glycogen storage disease type 0	17928598	GYS1 (19q13.3) glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
AR	Glycogen storage disease Type II (Pompe)	13954110 2203258 7668832	GAA (17q25.2-q25.3) acid alpha-glucosidase preproprotein
AR	Glycogen storage disease type IIIa	8990006	AGL (1p21) Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
AR	Glycogen storage disease type IV	15452297 5229990 8613547	GBE1 (3p12) glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
AR	Glycogen storage disease Type V (McArdle)	14442994 6587566 8316268	PYGM (11q12-q13.2) glycogen phosphorylase
AR	Glycogen storage disease Type VII (Tarui)	14339001 6213050	PFKM (12q13.3) phosphofructokinase, muscle
AR	Glycogenosis type XIV	19625727	PGM1 (1p31) phosphoglucomutase 1
AR	Glycogenosis type XV	20357282	GYG1 (3q24)
AR	Hereditary motor and sensory neuropathy-Lom (with deafness)	10831399 8841199	NDRG1 (8q24.3) N-myc downstream regulated gene 1
AR	Hereditary sensory and autonomic neuropathy type II	15060842 18521183	WNK1 (12p.13) WNK lysine deficient protein kinase 1
AR	Hereditary sensory and autonomic neuropathy type III (Familial dysautonomia, Riley-Day syndrome)	8102296	IKBKAP (9q31-q33) inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
AR	Hereditary sensory and autonomic neuropathy type V	14976160	NGFB (1p13.1) nerve growth factor (beta polypeptide)
AR	Hyaline body myopathy	14659406	? - (3p22.2-p21.32)
AR	Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect	21786366	MRPL3 (3q21-q23) mitochondrial ribosomal protein L3
AR	Hypertrophic cardiomyopathy, early-onset fatal by deficit in COX15	12474143	COX15 (10q24) COX15 homolog, cytochrome c oxidase assembly protein (yeast)
AR	Infantile-onset ascending spastic paraplegia	12145748	ALS2 (2q33.2) alsin
AR	Infantile-onset spinocerebellar ataxia	16135556 9027505	PEO1 (10q23.3-q24.3) twinkle/twinky (mt DNA helicase)
AR	Jervell and Lange-Nielsen cardio-auditory syndrome	9020846 9354783	KCNQ1 (11p15.5) potassium voltage-gated channel, KQT-like subfamily, member 1
AR	Jervell and Lange-Nielsen cardio-auditory syndrome	9328483	KCNE2 (21q22.12) potassium voltage-gated channel, Isk-related family, member 2
AR	Lactate dehydrogenase-A deficiency	2315312 7315796	LDHA (11p15.4) lactate dehydrogenase A
AR	Lethal Congenital Contracture Syndrome 1	18204449 9683599	GLE1 (9q34.11) GLE1 RNA export mediator homolog (yeast)
AR	Lethal Congenital Contracture Syndrome 2	17701904	ERBB3 (12q13) v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
AR	Lethal Congenital Contracture Syndrome 3	17701898	PIP5K1C (19p13.3) phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
AR	Limb-Girdle, Muscular dystrophy, type 2A	1505977 1901754 7720071 9150160	CAPN3 (15q15.1-q21.1) calpain 3
AR	Limb-Girdle, Muscular dystrophy, type 2B	8012357 9731526 9731527	DYSF (2p12-14) dysferlin
AR	Limb-Girdle, Muscular dystrophy, type 2C	1303286 7481775 8242065 8900232 8968757	SGCG (13q12) gamma sarcoglycan
AR	Limb-Girdle, Muscular dystrophy, type 2D	7663524 7668821 8069911 8776597 9192266	SGCA (17q21) alpha sarcoglycan
AR	Limb-Girdle, Muscular dystrophy, type 2E	7581448 7581449 8968749	SGCB (4q12) beta sarcoglycan
AR	Limb-Girdle, Muscular dystrophy, type 2F	8776597 8841194	SGCD (5q33-q34) delta-sarcoglycan
AR	Limb-Girdle, Muscular dystrophy, type 2G	10655062 9245996	TCAP (17q12) telethonin
AR	Limb-Girdle, Muscular dystrophy, type 2H	11822024 9634523	TRIM32 (9q33.2) Tripartite motif-containing 32
AR	Limb-Girdle, Muscular dystrophy, type 2I	10838249 11741828	FKRP (19q13.33) fukutin-related protein
AR	Limb-Girdle, Muscular dystrophy, type 2J	12145747	TTN (2q31) titin
AR	Limb-Girdle, Muscular dystrophy, type 2K	15792865 16717220	POMT1 (9q34.1) Protein-O-mannosyltransferase 1
AR	Limb-Girdle, Muscular dystrophy, type 2L	17008331 20096397 21186264	ANO5 (11p14-12) anoctamin 5
AR	Limb-Girdle, Muscular dystrophy, type 2M	17036286 17044012	FKTN (9q31-q33) fukutin
AR	Limb-Girdle, Muscular dystrophy, type 2N	17923109	POMT2 (14q24.3) protein-O-mannosyltransferase 2
AR	Limb-Girdle, Muscular dystrophy, type 2O	17878207 18195152 19067344	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
AR	Limb-Girdle, Muscular dystrophy, type 2Q	21109228	PLEC1 (8q24) plectin 1, intermediate filament binding protein 500kDa
AR	Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome)	9354783	KCNE1 (21q22.1-q22.2) potassium voltage-gated channel, Isk-related family, member 1
AR	Marinesco-Sj**gren syndrome (cerebellar ataxia with cataract and myopathy)	14512967 16282977 16282978	SIL1 (5q31) SIL1 homolog, endoplasmic reticulum chaperone
AR	Mitochondrial DNA depletion myopathy	11687801	TK2 (16q22-q23) Thymidine kinase 2, mitochondrial
AR	Mitochondrial DNA depletion myopathy, encephalomyopathic form	15877282	SUCLA2 (13q12.2-q13.3) succinate-CoA ligase, ADP-forming, beta subunit
AR	Mitochondrial DNA depletion myopathy	17486094	RRM2B (8q23.1) ribonucleotide reductase M2 B (TP53 inducible)
AR	Multiminicore disease with external ophtalmopegia	12719381 16380615	RYR1 (19q13.1) ryanodine receptor 1 (skeletal)
AR	Multiminicore disease, classical form	12192640 15122708	SEPN1 (1p36.13) Selenoprotein N1
AR	Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA	1430199 1882842	ETFA (15q23-q25) electron-transfer-flavoprotein, alpha polypeptide
AR	Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB)	7912128	ETFB (19q13.3-q13.4) electron-transfer-flavoprotein, beta polypeptide
AR	Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC)	12815589	ETFDH (4q32-q35) electron-transferring-flavoprotein dehydrogenase
AR	Muscle hypertrophy	15215484	GDF8 (2Q32) myostatin, muscular hypertrophy
AR	Muscle-eye-brain disease	15121789	FKRP (19q13.33) fukutin-related protein
AR	Muscle-eye-brain disease	11709191 12588800	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
AR	Muscle-eye-brain disease	16701995	POMT2 (14q24.3) protein-O-mannosyltransferase 2
AR	Myasthenic syndrome, with plectin defect	10446808 21263134	PLEC1 (8q24) plectin 1, intermediate filament binding protein 500kDa
AR	Myopathy congenital, with fiber-type disproportion	14575234	TPM3 (1q21.2) tropomyosin 3
AR	Myopathy with exercise intolerance, Swedish type	18304497	ICSU (12q24.1) iron-sulfur cluster scaffold homolog (E. coli)
AR	Myopathy, congenital, with fiber-type disproportion	18300303	RYR1 (19q13.1) ryanodine receptor 1 (skeletal)
AR	Myopathy, congenital, with fiber-type disproportion	16365872	SEPN1 (1p36.13) Selenoprotein N1
AR	Myosclerosis	18852439	COL6A2 (21q22.3) alpha 2 type VI collagen
AR	Myosin lia myopathy, recessive	20418530	MYH2 (17p13.1) myosin, heavy polypeptide 2, skeletal muscle
AR	Myosin storage myopathy and cardiomyopathy, recessive	17372140	MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta
AR	Myotonia, recessive (Becker disease)	1379744	CLCN1 (7q35) chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
AR	Myotonia, recessive (Becker)	1379744	CLCN1 (7q35) chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
AR	Naxos disease	10902626	JUP (17q21) junction plakoglobin
AR	Nemaline myopathy	10051637 12207937 16917880 8580725	NEB (2q22) nebulin
AR	Nemaline myopathy	10952871	TNNT1 (19q13.4) slow troponin T
AR	Nemaline myopathy	17160903	CFL2 (14q12) cofilin 2 (muscle)
AR	Nemaline myopathy with Escobar syndrome	19155175	TPM2 (9p13) tropomyosin 2 (beta)
AR	Neutral lipid storage disease with myopathy without ichthyosis	17187067	PNPLA2 (1p15.5) adipose triglyceride lipase (desnutrin)
AR	Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease)	8554065	SLC12A6 (15q13-q15) potassium chloride cotransporter KCC3
AR	Phosphoglycerate mutase deficiency	2153628 2556344 6830158 8447317	PGAM2 (7p13-p12) phosphoglycerate mutase 2 (muscle)
AR	Pompe disease Glycogenosis, generalized, cardiac form (early and late onset)	13954110	GAA (17q25.2-q25.3) acid alpha-glucosidase preproprotein
AR	Potassium channel Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome)	9020846	KCNQ1 (11p15.5) potassium voltage-gated channel, KQT-like subfamily, member 1
AR	Primary systemic carnitine deficiency	9916797	SLC22A5 (5q31) solute carrier family 22 member 5
AR	Reccurrent myoglobinuria, autosomal recessive	18817903	LPIN1 (2p25.1) Lipin 1 (phosphatidic acid phosphatase 1)
AR	Recessive limb-girdle muscular dystrophy with primary alphadystroglycan defect	21388311	DAG1 (3p21) Dystroglycan1 (dystrophin-associated glycoprotein 1)
AR	Refsum disease-1 (adult)	8595422 9326939 9326940	PHYH (10q13) phytanoyl-CoA 2-hydroxylase
AR	Refsum disease-2 (adult)	12522768	PEX7 (6q21-q22) peroxisomal biogenesis factor 7
AR	Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (Lipid storage myopathy)	17584774	ETFDH (4q32-q35) electron-transferring-flavoprotein dehydrogenase
AR	Rigid spine syndrome	11528383 12192640 9585610	SEPN1 (1p36.13) Selenoprotein N1
AR	Rigid spine syndrome	18952429	FHL1 (Xq26.3) four and a half LIM domain 1
AR	Rippling muscle disease, recessive	12666119 15668980	CAV3 (3p25) caveolin 3
AR	Sarcotubular myopathy	15786463	TRIM32 (9q33.2) Tripartite motif-containing 32
AR	Schwartz-Jampel syndrome	8541852	HSPG2 (1p36.1-p34) perlecan
AR	Sensory ataxic neuropathy, dysarthria and ophtalmoparesis	14745080 16080118	POLG (15q25) polymerase (DNA directed), gamma
AR	Sick sinus syndrome, recessive	14523039	SCN5A (3p21) voltage-gated sodium channel type V alpha
AR	Sodium-channel myasthenia	12766226	SCN4A (17q23-q25.3) sodium channel, voltage-gated, type IV, alpha
AR	Spastic paraplegia 5, autosomal recessive	14658060 18252231 19187859 19224311 19439420 7987300	CYP7B1 (8p12-q13) cytochrome P450, family 7, subfamily B, polypeptide 1
AR	Spastic paraplegia 7, autosomal recessive	9635427	SPG7 (16q24.3) paraplegin
AR	Spastic paraplegia 11, autosomal recessive	10408536 16699786 17322883	SPG11 (15q14) spatacsin
AR	Spastic paraplegia 14, autosomal recessive	10877981	? - (3q27-q28)
AR	Spastic paraplegia 15, autosomal recessive (Kjellin syndrome)	11342696 17661097 18394578	ZFYVE26 (14q24.1) spastizin
AR	Spastic paraplegia 18	16636240	? - (8p12-p11.21)
AR	Spastic paraplegia 20 (Troyer)	12134148	SPG20 (13q12.3) spartin
AR	Spastic paraplegia 21 (Mast)	14564668	SPG21 (15q21-q22) maspardin
AR	Spastic paraplegia 23 (Lison)	14681889	? - (1q24-q32)
AR	Spastic paraplegia 24	12499481	? - (13q14)
AR	Spastic paraplegia 25	12070243	? - (6q23.3-q24.1)
AR	Spastic paraplegia 26	15635080	? - (12p11-q14)
AR	Spastic paraplegia 27	15455396	? - (10q22-q24)
AR	Spastic paraplegia 28	15786464	? - (14q21-q22)
AR	Spastic paraplegia 30	16434418 21487076	KIF1A (2q37.3) kinesin family member 1A
AR	Spastic paraplegia 32, autosomal recessive	17515546	? - (14q12-q21)
AR	Spastic paraplegia 35, autosomal recessive	18463364	FA2H (16q21-q23.1) fatty acid 2-hydroxylase
AR	Spastic paraplegia 39, autosomal recessive	18313024	PNPLA6 (19p13.3-p13.2) patatin-like phospholipase domain containing 6
AR	Spastic paraplegia 43, autosomal recessive	20039086	? - (19p13.11-q12)
AR	Spastic paraplegia 45, autosomal recessive	19415352	? - (10q24.3-q25.1)
AR	Spastic paraplegia 47, autosomal recessive	21440262	? - (1p13.2-1p12)
AR	Spastic paraplegia 48, autosomal recessive	20613862	KIAA0415 (7p22.2) hypothetical protein LOC9907 ?
AR	Spastic paraplegia, complicated recessive (Sjogren-Larsson syndrome)	7894487 8528251	ALDH3A2 (17p11.2) aldehyde dehydrogenase 3A2
AR	Spinal muscular atrophy , type I (Werdnig-Hoffman )	1972783 7581461 7633412 7813012 7910982	SMN1 (5q13) survival of motor neuron 1, telomeric
AR	Spinal muscular atrophy with pontocerebellar hypoplasia	19646678	VRK1 (14q32) vaccinia related kinase 1
AR	Spinal muscular atrophy, distal autosomal recessive 1 ( with respiratory distress)	10521314	IGHMBP2 (11q13.2-q13.4) immunoglobulin mu binding protein 2
AR	Spinal muscular atrophy, distal autosomal recessive 2	11117544	? - (9p21)
AR	Spinal muscular atrophy, distal autosomal recessive 3	15054395	? - (11q13)
AR	Spinal muscular atrophy, distal autosomal recessive 4	16728649 17564964	PLEKHG5 (1p36.31) pleckstrin homology domain containing, family G (with RhoGef domain) member 5
AR	Spinal muscular atrophy, type II (intermediate)	8733053 8882869	SMN1 (5q13) survival of motor neuron 1, telomeric
AR	Spinal muscular atrophy, type III (Kugelberg-Welander)	1970420 2320125 7813012	SMN1 (5q13) survival of motor neuron 1, telomeric
AR	Spinal muscular atrophy, type IV, adult form	7658877 8551862	SMN1 (5q13) survival of motor neuron 1, telomeric
AR	Spinocerebellar ataxia with axonal neuropathy	12244316	TDP1 (14q31-q32) Tyrosyl-DNA phosphodiesterase 1
AR	Triglyceride storage disease with impaired long-chain fatty acid oxidation (Chanarin-Dorfman syndrome)	11590543	ABHD5 (3p25.3-p24.3) abhydrolase domain containing 5
AR	Ullrich syndrome	11381124 11506412	COL6A2 (21q22.3) alpha 2 type VI collagen
AR	Ullrich syndrome	12840783 16130093	COL6A1 (21q22.3) alpha 1 type VI collagen
AR	Ullrich syndrome	11992252	COL6A3 (2q37) alpha 3 type VI collagen
AR	Ventricular tachycardia, catecholaminergic polymorphic, recessive	11704930	CASQ2 (1p13.3-p11) calsequestrin 2 (cardiac muscle)
AR	Walker-Warburg syndrome	19299310	FKTN (9q31-q33) fukutin
AR	Walker-Warburg syndrome	12588800 19299310	POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase
AR	Walker-Warburg syndrome	15121789	FKRP (19q13.33) fukutin-related protein
AR	Walker-Warburg syndrome	12369018 16575835 19299310	POMT1 (9q34.1) Protein-O-mannosyltransferase 1
AR	Walker-Warburg syndrome	15894594 19299310	POMT2 (14q24.3) protein-O-mannosyltransferase 2