Skeletal muscle atrophy

Symptom Information:

Symptom ID: HPO:0003202
Synonyms:
Amyotrophy involving the extremities [HPO:0003202]
Muscle atrophy [HPO:0003202]
Muscle atrophy, neurogenic [HPO:0003202]
Muscle hypotrophy [HPO:0003202]
Muscle wasting [HPO:0003202]
Muscular atrophy [HPO:0003202]
Neurogenic muscle atrophy [HPO:0003202]
Neurogenic muscle atrophy, especially in the lower limbs [HPO:0003202]
Neurogenic muscular atrophy [HPO:0003202]
Skeletal muscle atrophy [HPO:0003202]
Muscle atrophy [Orphanet:44250]
Muscle atrophy (disorder) [Orphanet:44250]
Disuse muscle atrophy (disorder) [Orphanet:44250]
Muscular Atrophy [Orphanet:44250]
Atrophy, Disuse [Orphanet:44250]
Amyotrophy [OMIM:Amyotrophy]
Muscle atrophy [OMIM:Muscle atrophy]
Muscle atrophy, neurogenic [OMIM:Muscle atrophy, neurogenic]
Muscle hypotrophy [OMIM:Muscle hypotrophy]
Muscle wasting [OMIM:Muscle wasting]
Muscular atrophy [OMIM:Muscular atrophy]
Neurogenic muscle atrophy [OMIM:Neurogenic muscle atrophy]
Neurogenic muscle atrophy, especially in the lower limbs [OMIM:Neurogenic muscle atrophy, especially in the lower limbs]
Neurogenic muscular atrophy [OMIM:Neurogenic muscular atrophy]
Muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy [Orphanet:44250]
Amyotrophy [Orphanet:44250]
Disuse muscle atrophy [Orphanet:44250]
Amyotrophy [MedDRA:10002027]
Amyotrophy NOS [MedDRA:10002027]
Muscle atrophy [MedDRA:10028289]
Atrophy muscle [MedDRA:10028289]
Atrophy skeletal muscle [MedDRA:10028289]
Degeneration muscle [MedDRA:10028289]
Disuse muscle atrophy [MedDRA:10028289]
Muscle degeneration [MedDRA:10028289]
Muscle fibrosis atrophy [MedDRA:10028289]
Muscle fibrous atrophy [MedDRA:10028289]
Muscle wasting [MedDRA:10028289]
Muscle wasting (disuse) [MedDRA:10028289]
Muscular wasting and disuse atrophy, not elsewhere classified [MedDRA:10028289]
Muscle atrophy (1 patient) [OMIM:Muscle atrophy (1 patient)]
Muscle atrophy (type I) [OMIM:Muscle atrophy (type I)]
Muscle atrophy (variable) [OMIM:Muscle atrophy (variable)]
Muscle wasting (especially legs and arms) [OMIM:Muscle wasting (especially legs and arms)]
Muscular atrophy, neurogenic [OMIM:Muscular atrophy, neurogenic]
Quality:
Cross references:
HPO:0003700 "Generalized amyotrophy" [Orphanet:44250]
HPO:0100295 "Muscle fiber atrophy" [Orphanet:44250]
Orphanet:44250 "Muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy" [Orphanet:44250]
OMIM: "Amyotrophy" [OMIM:Amyotrophy]
OMIM: "Muscle atrophy" [OMIM:Muscle atrophy]
OMIM: "Muscle atrophy, neurogenic" [OMIM:Muscle atrophy, neurogenic]
OMIM: "Muscle hypotrophy" [OMIM:Muscle hypotrophy]
OMIM: "Muscle wasting" [OMIM:Muscle wasting]
OMIM: "Muscular atrophy" [OMIM:Muscular atrophy]
OMIM: "Neurogenic muscle atrophy" [OMIM:Neurogenic muscle atrophy]
OMIM: "Neurogenic muscle atrophy, especially in the lower limbs" [OMIM:Neurogenic muscle atrophy, especially in the lower limbs]
OMIM: "Neurogenic muscular atrophy" [OMIM:Neurogenic muscular atrophy]
OMIM: "Muscle atrophy (1 patient)" [OMIM:Muscle atrophy (1 patient)]
OMIM: "Muscle atrophy (type I)" [OMIM:Muscle atrophy (type I)]
OMIM: "Muscle atrophy (variable)" [OMIM:Muscle atrophy (variable)]
OMIM: "Muscle wasting (especially legs and arms)" [OMIM:Muscle wasting (especially legs and arms)]
OMIM: "Muscular atrophy, neurogenic" [OMIM:Muscular atrophy, neurogenic]
UMLS:C0026846 "Amyotrophy" [HPO:0003202]
UMLS:C0026846 "Muscular Atrophy" [Orphanet:44250]
UMLS:C0264122 "Atrophy, Disuse" [Orphanet:44250]
Is a (Direct Parents):
HPO         Abnormality of muscle morphology
MedDRA Neuromuscular disorders NEC
Orphanet Muscle anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Skeletal muscle atrophy(HPO:0003202)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neuromuscular disorders(MedDRA:10029317)
       Neuromuscular disorders NEC(MedDRA:10029318)
          Skeletal muscle atrophy(HPO:0003202)
Database Frequency: 281 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
ACTH-independent macronodular adrenal hyperplasia (Orphanet:189427)
AMYOTONIA CONGENITA (OMIM:205000)
AMYOTROPHIC DYSTONIC PARAPLEGIA (OMIM:105300)
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:612069)
AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
AMYOTROPHIC LATERAL SCLEROSIS 17 (OMIM:614696)
AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (OMIM:205250)
ANE syndrome (Orphanet:157954)
Adenylosuccinate lyase deficiency (Orphanet:46)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alpha-mannosidosis (Orphanet:61)
Amyotrophic lateral sclerosis (Orphanet:803)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis-like syndrome (Orphanet:1149)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Ataxia-telangiectasia (Orphanet:100)
Autosomal dominant Charcot-Marie-Tooth disease type 2N (Orphanet:228174)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant limb-girdle muscular dystrophy type 1B (Orphanet:264)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic paraplegia type 12 (Orphanet:100993)
Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
Autosomal dominant spastic paraplegia type 42 (Orphanet:171863)
Autosomal dominant spastic paraplegia type 8 (Orphanet:100989)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal recessive axonal neuropathy with neuromyotonia (Orphanet:324442)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2Q (Orphanet:254361)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Becker muscular dystrophy (Orphanet:98895)
Becker nevus syndrome (Orphanet:64755)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
CANDLE syndrome (Orphanet:325004)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Camurati-Engelmann disease (Orphanet:1328)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carney complex (Orphanet:1359)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Caudal regression sequence (Orphanet:3027)
Central core disease (Orphanet:597)
Centronuclear myopathy (Orphanet:595)
Charcot-Marie-Tooth disease (Orphanet:166)
Charcot-Marie-Tooth disease type 4F (Orphanet:99952)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Cleft palate - large ears - small head (Orphanet:2013)
Coffin-Lowry syndrome (Orphanet:192)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cushing disease (Orphanet:96253)
Cystinosis (Orphanet:213)
Deafness - vitiligo - achalasia (Orphanet:3239)
Diaphyseal medullary stenosis - bone malignancy (Orphanet:85182)
Duchenne and Becker muscular dystrophy (Orphanet:262)
Duchenne muscular dystrophy (Orphanet:98896)
Dysequilibrium syndrome (Orphanet:1766)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Ehlers-Danlos syndrome due to tenascin-X deficiency (Orphanet:230839)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Extensor tendons of finger anomalies (Orphanet:3294)
FACES syndrome (Orphanet:1969)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Facial onset sensory and motor neuronopathy (Orphanet:85162)
Facioscapulohumeral dystrophy (Orphanet:269)
Farber lipogranulomatosis (Orphanet:333)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Flynn-Aird syndrome (Orphanet:2047)
Fowler syndrome (Orphanet:221126)
Frontometaphyseal dysplasia (Orphanet:1826)
Frontotemporal dementia with motor neuron disease (Orphanet:275872)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis type 3 (Orphanet:79257)
Gemignani syndrome (Orphanet:2074)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (Orphanet:308712)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (Orphanet:308684)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (Orphanet:308698)
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (Orphanet:308670)
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (Orphanet:308655)
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (Orphanet:308638)
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (Orphanet:308621)
Glycogen storage disease due to muscle phosphofructokinase deficiency (Orphanet:371)
Glycogen storage disease due to muscle phosphorylase kinase deficiency (Orphanet:715)
Gordon syndrome (Orphanet:376)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Hereditary sensory and autonomic neuropathy type 1 (Orphanet:36386)
Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970)
Hereditary sensory and autonomic neuropathy with spastic paraplegia (Orphanet:139578)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Humerus trochlea aplasia (Orphanet:3383)
Hurler syndrome (Orphanet:93473)
Hyperkalemic periodic paralysis (Orphanet:682)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Inclusion body myositis (Orphanet:611)
Infantile Refsum disease (Orphanet:772)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus (Orphanet:3044)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
JMP syndrome (Orphanet:324999)
Juvenile amyotrophic lateral sclerosis (Orphanet:300605)
Juvenile hyaline fibromatosis (Orphanet:2028)
Juvenile primary lateral sclerosis (Orphanet:247604)
Kearns-Sayre syndrome (Orphanet:480)
Kennedy disease (Orphanet:481)
L1 syndrome (Orphanet:275543)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
Laron syndrome (Orphanet:633)
Legg-Calvé-Perthes disease (Orphanet:2380)
Leprechaunism (Orphanet:508)
Lethal arthrogryposis - anterior horn cell disease (Orphanet:53696)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal congenital contracture syndrome type 2 (Orphanet:137776)
Lethal congenital contracture syndrome type 3 (Orphanet:137783)
Lethal multiple pterygium syndrome (Orphanet:33108)
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation (Orphanet:137898)
Limited systemic sclerosis (Orphanet:220407)
Localized scleroderma (Orphanet:90289)
Lysinuric protein intolerance (Orphanet:470)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
MICROHYDRANENCEPHALY (OMIM:605013)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) (OMIM:615418)
MUSCULAR ATROPHY, MALIGNANT NEUROGENIC (OMIM:158650)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA (OMIM:254950)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome (Orphanet:558)
Marinesco-Sjögren syndrome (Orphanet:559)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Melorheostosis (Orphanet:2485)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Moderate multiminicore disease with hand involvement (Orphanet:178145)
Moebius syndrome (Orphanet:570)
Monomelic amyotrophy (Orphanet:65684)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Muckle-Wells syndrome (Orphanet:575)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Multifocal muscular fibrosis - obstructed vessels (Orphanet:2033)
Multiple system atrophy (Orphanet:102)
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus (Orphanet:2579)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
Myoclonus - cerebellar ataxia - deafness (Orphanet:2589)
Myopathy due to myoadenylate deaminase deficiency (OMIM:615511)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
Myosclerosis (Orphanet:289380)
Myotonia permanens (Orphanet:99735)
NEMALINE MYOPATHY 10 (OMIM:616165)
NEMALINE MYOPATHY 4 (OMIM:609285)
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY (OMIM:256720)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
NEUROPATHY, PAINFUL (OMIM:256870)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nathalie syndrome (Orphanet:2663)
Native American myopathy (Orphanet:168572)
Navajo neurohepatopathy (Orphanet:255229)
Neu-Laxova syndrome (Orphanet:2671)
Neuralgic amyotrophy (Orphanet:2901)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Neuronal intranuclear inclusion disease (Orphanet:2289)
Neutral lipid storage disease (Orphanet:165)
Nijmegen breakage syndrome (Orphanet:647)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Oculogastrointestinal muscular dystrophy (Orphanet:1876)
Oculopharyngeal muscular dystrophy (Orphanet:270)
Oxoglutaricaciduria (Orphanet:31)
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS (OMIM:615704)
POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
Pelvic dysplasia - arthrogryposis of lower limbs (Orphanet:2840)
Peripheral motor neuropathy - dysautonomia (Orphanet:2400)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Polyneuropathy - hand defect (Orphanet:2926)
Polyneuropathy - intellectual deficit - acromicria - premature menopause (Orphanet:2928)
Posterior column ataxia - retinitis pigmentosa (Orphanet:88628)
Primary CD59 deficiency (Orphanet:169464)
Primary pigmented nodular adrenocortical disease (Orphanet:189439)
Progressive demyelinating neuropathy with bilateral striatal necrosis (Orphanet:217396)
Proteasome disability syndrome (Orphanet:324977)
Proteus syndrome (Orphanet:744)
Proximal spinal muscular atrophy (Orphanet:70)
Proximal spinal muscular atrophy type 1 (Orphanet:83330)
Proximal spinal muscular atrophy type 2 (Orphanet:83418)
RUIJS-AALFS SYNDROME (OMIM:616200)
Refsum disease (Orphanet:773)
Renpenning syndrome (Orphanet:3242)
Rett syndrome (Orphanet:778)
Riboflavin transporter deficiency (Orphanet:97229)
Richards-Rundle syndrome (Orphanet:1399)
Roussy-Lévy syndrome (Orphanet:3115)
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION (OMIM:271109)
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY (OMIM:271110)
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY (OMIM:183050)
Sandhoff disease (Orphanet:796)
Sandhoff disease, adult form (Orphanet:309169)
Sandhoff disease, infantile form (Orphanet:309155)
Sandhoff disease, juvenile form (Orphanet:309162)
Sarcoidosis (Orphanet:797)
Schwartz-Jampel syndrome (Orphanet:800)
Scleroderma (Orphanet:801)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Shoulder and girdle defects - familial intellectual deficit (Orphanet:2580)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Spastic paraplegia - neuropathy - poikiloderma (Orphanet:2821)
Spastic paraplegia 63, autosomal recessive (OMIM:615686)
Spastic paraplegia 64, autosomal recessive (OMIM:615683)
Spastic paraplegia type 2 (Orphanet:99015)
Spheroid body myopathy (Orphanet:268129)
Spinocerebellar ataxia type 18 (Orphanet:98771)
Steinert myotonic dystrophy (Orphanet:273)
Stickler syndrome (Orphanet:828)
Stiff skin syndrome (Orphanet:2833)
Stoll-Alembik-Finck syndrome (Orphanet:3200)
Sézary syndrome (Orphanet:3162)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Thyrocerebrorenal syndrome (Orphanet:3327)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Triose phosphate-isomerase deficiency (Orphanet:868)
Trisomy 17p (Orphanet:261290)
Walker-Warburg syndrome (Orphanet:899)
Weaver-Williams syndrome (Orphanet:3448)
Werner syndrome (Orphanet:902)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked centronuclear myopathy (Orphanet:596)
X-linked myopathy with excessive autophagy (Orphanet:25980)