| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Miyoshi Myopathy |
|
Triceps weakness, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Quadriceps mu... |
ORPHA:45448 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... |
OMIM:616860 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Scoliosis, Distal amyotrophy, Thenar muscle atrophy, Uppe... |
OMIM:601472 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Facial palsy, Lumbar hyperlordosis, Myopathy |
OMIM:253320 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... |
OMIM:608099 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Sensorineural hearing impairment, Vaginal fistula, Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Myopathy, Generalized amyotrophy |
OMIM:618323 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Trapezius muscle aplasia, Hydrocephalus, Abnormality of the ear |
OMIM:600257 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Quadriceps muscle atrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculatur... |
ORPHA:482601 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Optic atrophy, Optic disc pallor, Hearing impairment |
OMIM:617087 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gliosis, Mental deterioration, Frequent falls, Gait ataxia, Spasticity |
OMIM:618369 |
| Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
| Diencephalic Syndrome |
|
Hydrocephalus, Decreased body weight, Cachexia, Long penis, Optic atrophy, Macrotia |
ORPHA:1672 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy |
ORPHA:1216 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... |
OMIM:213200 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... |
ORPHA:219 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of facial musculature, Scoliosis, Foot dorsiflexor weakness, Wrist flexion contracture, ... |
OMIM:619519 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:600794 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclo... |
OMIM:607136 |
| Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Gemignani Syndrome |
|
Sensorineural hearing impairment, Skeletal muscle atrophy, Hypoplasia of penis, Abnormal testis m... |
ORPHA:2074 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Obesity |
OMIM:264010 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis, Bradykinesia, Mental deterioration, Rigidity, Parkinsonism, Memory impairment, Gait dist... |
OMIM:221820 |
| Huntington Disease |
|
Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Dementia |
OMIM:143100 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Flexion contracture, Cachexia, Hyperlordosis, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
| Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Gliosis, Diminished motivation, Emotional blunting, Frontotemporal deme... |
OMIM:172700 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Bifid scrotum, Micropenis, Small for gestational age, Urethral d... |
ORPHA:95706 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Scoliosis, Distal amyotrophy, Abnormal auditory evoked... |
OMIM:601382 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:208100 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... |
OMIM:613204 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Moynahan Syndrome |
|
Sensorineural hearing impairment, Cachexia, Hypogonadism |
ORPHA:2574 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Micropenis, Hypospadias, Facial palsy, Scoliosi... |
OMIM:301830 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Foot dorsiflexor weakness, Distal amyotr... |
OMIM:616040 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Apathy, Gliosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis, Apraxia, Fro... |
OMIM:105550 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Dementia |
OMIM:606688 |
| Multiminicore Myopathy |
|
Failure to thrive, Abnormal muscle fiber morphology, Spinal rigidity, Proximal muscle weakness in... |
ORPHA:598 |
| Isolated Glycerol Kinase Deficiency |
|
EEG abnormality, Scoliosis, Hyperlordosis, Cryptorchidism, Myopathy |
ORPHA:408 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed v... |
OMIM:167320 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... |
OMIM:600175 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, EEG abnormality, Scoliosis |
OMIM:300518 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Short Stature And Microcephaly With Genital Anomalies |
|
Failure to thrive, Decreased body weight, External genital hypoplasia, Micropenis, Scoliosis, Phi... |
OMIM:618702 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Merrf |
|
Sensorineural hearing impairment, Ragged-red muscle fibers, Optic atrophy, Myopathy |
ORPHA:551 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... |
ORPHA:97244 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Cognitive impairment, Myoclonus, Babinski sign, Abnormal pyramidal sign, Akineti... |
ORPHA:204 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Congenital muscul... |
OMIM:609456 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Hearing impairme... |
ORPHA:101075 |
| Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Scapula... |
OMIM:616471 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Myopathy |
OMIM:613076 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex, Pathologic fracture |
OMIM:174810 |
| Riboflavin Transporter Deficiency |
|
Abnormal autonomic nervous system physiology, Cachexia, Progressive hearing impairment, Optic dis... |
ORPHA:97229 |
| Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Failure to thrive, Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:424107 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Foot dorsiflexor wea... |
OMIM:613287 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Aminoaciduria, Decreased nerve conduction velocity, Cachexia, M... |
ORPHA:1933 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Decreased nerve conduction veloci... |
ORPHA:90103 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Spinal muscular atrophy |
OMIM:614881 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Mcdonough Syndrome |
|
Kyphosis, Protruding ear, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scolios... |
ORPHA:2471 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
| Fried Syndrome |
|
Hydrocephalus, Scoliosis, Macrotia, Hearing impairment, Skeletal muscle atrophy |
ORPHA:85335 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:611225 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Thenar muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Thenar muscle atrophy, Fir... |
OMIM:612335 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean... |
OMIM:300908 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Scoliosis, S... |
OMIM:609284 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Melorheostosis |
|
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... |
ORPHA:2485 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Caffey Disease |
|
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... |
ORPHA:1310 |
| Huntington Disease-Like 1 |
|
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cognitive impairment,... |
ORPHA:157941 |
| Huntington Disease-Like 1 |
|
Dysmetria, Anxiety, Rigidity, Basal ganglia gliosis, Chorea, Aggressive behavior, Unsteady gait, ... |
OMIM:603218 |
| Hip Dysplasia, Beukes Type |
|
Osteoarthritis, Abnormal bone ossification, Abnormality of bone mineral density, Abnormal ossific... |
ORPHA:2114 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Kyphosis, Flexion contracture, Optic atrophy, Hearing impairment, Myopathy |
OMIM:618237 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... |
OMIM:300696 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Apathy, Gliosis, Progressive cerebellar ataxia, Frontotemporal dementia, Babinski si... |
ORPHA:275872 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... |
ORPHA:399081 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Spinal rigidity, Thoracolumbar scoliosis, Facial palsy, Skeletal muscle atr... |
OMIM:255600 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Failure to thrive, Kyphosis, Scoliosis |
OMIM:618234 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... |
OMIM:617519 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Fatty replacement of skeletal muscle, Scoliosis, Myopathy |
OMIM:255100 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Sensorineural hearing impairment, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:616280 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis |
ORPHA:1525 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Scoliosis, Distal amyotrophy |
OMIM:608673 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Flexion contracture, Scoliosis, Facial palsy, Ethylmalonic aciduria, Myopathy |
OMIM:201470 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ragged-red muscle fibers, Weight loss, Hearing impairment |
OMIM:613662 |
| Flynn-Aird Syndrome |
|
Kyphosis, EEG abnormality, Cachexia, Scoliosis, Skeletal muscle atrophy, Progressive sensorineura... |
ORPHA:2047 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Decreased body weight, Skeletal muscle atrophy |
ORPHA:401805 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Azoospermia, Male infertility |
ORPHA:94064 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Decreased nerve conduction velocity, Scoliosis, Hearing impairment, Skeletal muscle atr... |
ORPHA:101078 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, Hyperlordosis, Distal low... |
OMIM:607088 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... |
OMIM:619216 |
| Myopathy And Diabetes Mellitus |
|
Sensorineural hearing impairment, Weakness of facial musculature, Pelvic girdle muscle weakness, ... |
ORPHA:2596 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Gliosis, Paralysis, Athetosis |
OMIM:300857 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets |
OMIM:146350 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Mental deterioration, Gliosis, Hemiparesis |
OMIM:613002 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Underdeveloped antitragus, Choroid plexus cyst, Glandular hypospad... |
ORPHA:293725 |
| Myopathy, Myofibrillar, 6 |
|
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Scoliosis, Myofibrillar myopat... |
OMIM:612954 |
| Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... |
OMIM:114000 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Failure to thrive, Flexion contracture, Spinal muscular atrophy, Hearing impairment, Skeletal mus... |
OMIM:616081 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... |
OMIM:610687 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Scoliosis, Increased CSF protei... |
ORPHA:101082 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Sensorineural hearing impairment, Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:615025 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, EMG: myopathic abnormal... |
ORPHA:370980 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Myopathy, Spheroid Body |
|
Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Spinal muscular atrophy, Distal amyotrophy |
OMIM:300489 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Orotic Aciduria |
|
Hypochromia, Oroticaciduria, Atrial septal defect, Folate-unresponsive megaloblastic anemia, Anis... |
OMIM:258900 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Sensorineural hearing impairment, Abnormality of the extraocular muscles, Decreased sensory nerve... |
ORPHA:298 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricul... |
ORPHA:86812 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Scoliosis, Ventriculomegal... |
ORPHA:1188 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Scoliosis, Myopathy |
ORPHA:50817 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Sensorineural hearing impairment, Kyphoscoliosis, Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| Distal Nebulin Myopathy |
|
Slender build, Nemaline bodies, Weakness of facial musculature, EMG: myopathic abnormalities, Foo... |
ORPHA:399103 |
| Nemaline Myopathy 2 |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Fatty replacement... |
OMIM:256030 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Dandy-Walker malformation |
OMIM:607091 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Euphoria, Myoclonus, Babinski sign, Memory impairment, Gait disturbance, Frontal lobe de... |
OMIM:221770 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder, Skeletal muscle atrophy, Scoliosis, Lower limb muscle weak... |
ORPHA:488594 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Abnormal motor... |
ORPHA:139536 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... |
OMIM:606612 |
| Metatropic Dysplasia |
|
Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal enchondr... |
ORPHA:2635 |
| Childhood-Onset Nemaline Myopathy |
|
Slender build, Facial diplegia, Nemaline bodies, Spinal rigidity, Flexion contracture, EMG: myopa... |
ORPHA:171439 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Thoracic scoliosis, Skeletal muscle atrophy |
OMIM:615681 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling |
ORPHA:1952 |
| Ck Syndrome |
|
Slender build, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
| Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness o... |
OMIM:619566 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor function, Deme... |
OMIM:604218 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Failure to thrive, ... |
OMIM:600081 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Cryptorchidism, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiple... |
OMIM:618393 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Ragged-red muscle fibers, M... |
ORPHA:270 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Aminoaciduria, Anisocytosis, Renal hypoplasia, 3-Methylglutaconic aciduria, Lactica... |
OMIM:604273 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Multiple joint contractures, Limb-girdle muscle weakness, Hyperlordosis, Myopathy |
ORPHA:352470 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... |
OMIM:615575 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Gliosis, Progressive language deterioration, Parkinsonism, Memory impairment, Neurofibril... |
OMIM:607485 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Abnormality of the auditory canal, Ventriculomegaly, Hearing impairm... |
ORPHA:319199 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Urinary urgency, Lower limb muscle weakness, Distal amyotrophy |
OMIM:610250 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Spasticity, Tetraplegia, Clonus |
OMIM:614959 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Typ... |
OMIM:160150 |
| Pleoconial Myopathy With Salt Craving |
|
Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... |
ORPHA:206549 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Infantile sensorineural hearing impairment, Weakness of facial musculature, Scoliosis, Spinal mus... |
ORPHA:254875 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| 6Q Terminal Deletion Syndrome |
|
Failure to thrive, Hypospadias, Short neck, Scoliosis, Low-set, posteriorly rotated ears, Phimosi... |
ORPHA:75857 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Pineocytoma |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy |
ORPHA:2598 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mas... |
OMIM:603034 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Sensorineural hearing impairment, EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle f... |
OMIM:609283 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Spinal rigidity, Congenital muscular dystr... |
OMIM:604801 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Increased CSF lactate, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss |
OMIM:612075 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... |
OMIM:300718 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98855 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Proteus Syndrome |
|
Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Mandibular hyperostosis, Facial hyperostosis |
OMIM:176920 |
| Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Facial ... |
OMIM:607641 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hearing impairment, Hydrocephalus, EEG abnormality |
ORPHA:1008 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Increased endomysial connective tissue, Cryptorchidism, Flexion contracture, Minicore m... |
ORPHA:178148 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Scoliosis, Hyperlordosis, Skeletal muscle atrophy |
OMIM:617760 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Enlarged ki... |
ORPHA:90301 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Dec... |
ORPHA:101077 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... |
OMIM:609285 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Scoliosis,... |
OMIM:619042 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Distal amyotr... |
ORPHA:100985 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Fanconi Anemia |
|
Hydrocephalus, Absent testis, Decreased fertility in males, Hypogonadism, Weight loss, Abnormal t... |
ORPHA:84 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Spinal rigidity, Flexion contracture, Congenital muscular dystrophy, Generaliz... |
OMIM:613205 |
| Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size |
ORPHA:98797 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Neurofibrillary tan... |
OMIM:137440 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
| Pettigrew Syndrome |
|
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Flexion contr... |
OMIM:304340 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... |
OMIM:611590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Failure to thrive, Nemaline bodies, Myopathy |
OMIM:618246 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Weakness of facial mu... |
ORPHA:352447 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Hypertrophic car... |
OMIM:617303 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Facial palsy, Centrally nucleated skelet... |
OMIM:611705 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scoliosis, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy |
OMIM:605637 |
| Grant Syndrome |
|
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification |
ORPHA:2097 |
| Renpenning Syndrome |
|
Sensorineural hearing impairment, Cachexia, Hypospadias, Round ear, Decreased testicular size, Ma... |
ORPHA:3242 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... |
OMIM:109150 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor nerve conductio... |
OMIM:609260 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... |
OMIM:608323 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Increased CSF lactate, Scoliosis |
OMIM:618244 |
| Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Decreased body weight, Increased endomysial connective tissue, Spinal rigidity... |
OMIM:602771 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Roussy-Lévy Syndrome |
|
Urinary bladder sphincter dysfunction, Kyphoscoliosis, Intrinsic hand muscle atrophy, Decreased m... |
ORPHA:3115 |
| Marinesco-Sjogren Syndrome |
|
Failure to thrive, Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Rimmed vacuoles... |
OMIM:248800 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Optic atrophy, Spinal muscular atrophy |
ORPHA:496756 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:616282 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness,... |
OMIM:302801 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness,... |
OMIM:607678 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Abnormal pinna morphology, Flexion contracture, Scoliosis, Ventriculomegaly, Arthrogryp... |
OMIM:618291 |
| Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations, Tetraplegia |
OMIM:604484 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Familial Isolated Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Myopathy |
ORPHA:154 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
| Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Sensorineural hearing impairment, Failure to thrive, Skeletal muscle atrophy, Ventriculomegaly |
OMIM:618251 |
| Nathalie Syndrome |
|
Hearing impairment, Skeletal muscle atrophy |
OMIM:255990 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Myoclonus, Gliosis, Spasticity |
OMIM:225753 |
| Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Memory impairment, Gait disturbance, Spasticity, Unsteady gait, Emotional lability |
OMIM:603896 |
| King-Denborough Syndrome |
|
Failure to thrive, Kyphoscoliosis, Lumbar hyperlordosis, Muscle fiber atrophy, Cryptorchidism, We... |
OMIM:619542 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| 1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus, Hypospadias, Arthrogryposis multiplex congenita, Cryptorchidism |
ORPHA:250994 |
| Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98853 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... |
OMIM:608423 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy |
OMIM:182980 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Scoliosis, Distal amyotrophy, Spinal muscular atrophy, Hyperlordos... |
OMIM:611067 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Skeletal muscle atrophy,... |
OMIM:310440 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus, Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle musc... |
ORPHA:353327 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:1486 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... |
OMIM:125250 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnormality of ... |
ORPHA:1875 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:615048 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Memory impairmen... |
ORPHA:275864 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, EEG abnormality, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Mus... |
ORPHA:272 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture, Scoliosis, Optic atrophy, Hypsarrhythmia, Low-set ears |
OMIM:300884 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Biemond Syndrome Type 2 |
|
|
