| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:601472 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Confusion, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb... |
OMIM:607136 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Abnormality of the ear, Trapezius muscle aplasia |
OMIM:600257 |
| Huntington Disease |
|
Rigidity, Chorea, Gait ataxia, Bradykinesia, Depression, Dementia, Gliosis |
OMIM:143100 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula, Skeletal muscle atrophy, Sensorineural hearing impairment, Myopathy |
ORPHA:2597 |
| Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Long penis, Optic atrophy, Decreased body weight, Macrotia |
ORPHA:1672 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Depression, Bradykinesia, Frontal lobe demen... |
OMIM:221820 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Hypoplasia of penis, Abnormal testis m... |
ORPHA:2074 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Small for gestational age, Congenital diaphragmatic hernia, Cryptorchidism, Ventra... |
ORPHA:95706 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... |
OMIM:619519 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:600794 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Cryptorchidism, ... |
OMIM:301830 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Torticollis, Gait ataxia, Depression, Lower limb hypertonia, Gait disturbance, Ga... |
OMIM:618369 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy |
ORPHA:157973 |
| Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Cryptorchidism, Myopathy, EEG abnormality, Scoliosis |
ORPHA:408 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Scoliosis, Lower limb amyotrop... |
OMIM:617087 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Scoliosis, Type 1 muscle... |
ORPHA:424107 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Parkinsonism, Paraparesis, Frontotemporal dementia, Depression, Dementia, Gliosis, Tetraparesis, ... |
OMIM:105550 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass, Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... |
ORPHA:598 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Moynahan Syndrome |
|
Sensorineural hearing impairment, Hypogonadism, Cachexia |
ORPHA:2574 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... |
OMIM:213200 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
| Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... |
OMIM:620386 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis, EEG abnormality |
OMIM:300518 |
| Merrf |
|
Myopathy, Sensorineural hearing impairment, Ragged-red muscle fibers, Optic atrophy |
ORPHA:551 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve c... |
ORPHA:101075 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Dementia, Abnormality of... |
ORPHA:204 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Hearing impairment |
OMIM:614369 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... |
OMIM:613287 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy, Sensorineural hearing impairment |
OMIM:613076 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
| Short Stature And Microcephaly With Genital Anomalies |
|
External genital hypoplasia, Phimosis, Scoliosis, Decreased body weight, Micropenis, Failure to t... |
OMIM:618702 |
| Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the ... |
ORPHA:2471 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... |
OMIM:611102 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Cachexia, Progressive hearing impairmen... |
ORPHA:97229 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia, Decreased nerve conduction velocity, Sensorineural hearing imp... |
ORPHA:1933 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Mental deterioration, Gliosis, Confusion |
OMIM:613002 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Sensorineural hearing impairment, Male infertility, Immotile sperm |
OMIM:608653 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Fried Syndrome |
|
Skeletal muscle atrophy, Hydrocephalus, Scoliosis, Macrotia, Hearing impairment |
ORPHA:85335 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Failure to thrive, Hearing impairment |
OMIM:618237 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
| Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Depression, Mania, Dementia, Basal ga... |
OMIM:603218 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Achilles tendon contracture, Low-set e... |
OMIM:620323 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn... |
OMIM:609284 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Frontotemporal dementi... |
ORPHA:275872 |
| Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo... |
OMIM:300696 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Sensorineural hearing impairment, Ragged-red muscle fibers |
OMIM:545000 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials |
OMIM:608673 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... |
OMIM:255600 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Scoliosis, Hearing impair... |
ORPHA:101078 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Knee flexion contracture |
ORPHA:401785 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Slender build, Hearing impairment |
OMIM:613662 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, EEG abnormality, Scoliosis, Progressive sensorineura... |
ORPHA:2047 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Parkinsonism, Neurofibrillary tangles, Dementia, Gliosis, Memory impairment |
OMIM:606688 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Sensorineural hearing impairment, Achilles tendon contracture, Prox... |
ORPHA:2596 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Decreased body weight |
ORPHA:401805 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Gliosis, Frontotemporal dementia, Paralysis |
OMIM:300857 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... |
ORPHA:86812 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... |
OMIM:610687 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a... |
OMIM:604273 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| L-2-Hydroxyglutaric Aciduria |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Gliosis, Abnormality of extrapyramidal mot... |
OMIM:236792 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck |
ORPHA:2744 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... |
OMIM:607088 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Subperiosteal bone formation, C... |
OMIM:114000 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Decreased body weight, Delayed ossification of carpal bones, Reduced b... |
OMIM:618392 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Scolio... |
ORPHA:101082 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Organic aciduria, Scoliosis |
OMIM:255100 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li... |
ORPHA:139536 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Myopathy, Kyphoscoliosis |
ORPHA:300179 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Underdeveloped antitragus, Abnormal preputium morphology, Choroid plexu... |
ORPHA:293725 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Scoliosis |
ORPHA:50817 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... |
OMIM:605726 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Slender build, Joint hypermobility |
OMIM:300831 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, S... |
ORPHA:1188 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Hypogonadotropic hypogonadism, ... |
ORPHA:298 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki... |
ORPHA:90301 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Distal sensory impairment, Dementia, Gliosis, Abnormality of extrapyramidal motor function, Myocl... |
OMIM:604218 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Abnormality of the auditory canal, Kyphosis, Upper limb hypertonia, Failure to thrive, Ventriculo... |
ORPHA:319199 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... |
OMIM:615575 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Spondylolisthesis, Rimmed v... |
ORPHA:270 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Slender build |
ORPHA:352470 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz... |
ORPHA:171439 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness, Scoli... |
ORPHA:488594 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy, Thoracic scoliosis |
OMIM:615681 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
| Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ... |
ORPHA:90103 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Low-set ears, Scoliosis, Arthrogryposi... |
ORPHA:178148 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Ventriculomegaly, Elbow contracture, Facial palsy, Hyp... |
OMIM:606612 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency, Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
OMIM:610250 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Infanti... |
ORPHA:254875 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Sensorineural hearing impairment, Ragged-red muscle fibers, Facial ... |
OMIM:609283 |
| 6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Phimosis, Short neck, Obesity, Hypsarrhythmia, Co... |
ORPHA:75857 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... |
OMIM:620389 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Bradykinesia, ... |
OMIM:137440 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Pineocytoma |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... |
OMIM:603034 |
| Alexander Disease Type I |
|
Cachexia, Hydrocephalus, Failure to thrive, Scoliosis |
ORPHA:363717 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... |
OMIM:300580 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:98855 |
| Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Trimethylaminuria |
OMIM:602079 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Increased CSF lactate, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita, Failure to thrive |
ORPHA:250994 |
| Pick Disease Of Brain |
|
Frontotemporal dementia, Emotional blunting, Gliosis, Irritability |
OMIM:172700 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Euphoria, Frontal lobe dementia, Dementia, Gait disturbance, Myoclonus, Gliosis, A... |
OMIM:221770 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Joint contracture, Failure to thrive, Hearing i... |
OMIM:616081 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, In... |
ORPHA:101077 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... |
OMIM:619042 |
| Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
| Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Renpenning Syndrome |
|
Skeletal muscle atrophy, Hypospadias, Cachexia, Sensorineural hearing impairment, Round ear, Macr... |
ORPHA:3242 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... |
OMIM:608323 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
EEG abnormality, Hydrocephalus, Hearing impairment |
ORPHA:1008 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:600081 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Anemia, Nephrotic syndrome, Focal segm... |
OMIM:617303 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ... |
OMIM:605637 |
| Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Gliosis, Clonus, Tetraplegia |
OMIM:614959 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Cryptorch... |
OMIM:616816 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Hepa... |
OMIM:232220 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Distal amyotrophy,... |
OMIM:609260 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skele... |
OMIM:619542 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Hypoglyc... |
OMIM:276700 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... |
OMIM:302801 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... |
OMIM:616852 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... |
OMIM:607678 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Dementia, Gait disturbance, Myoclon... |
OMIM:607822 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Muscle Filaminopathy |
|
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... |
ORPHA:171445 |
| Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Spinal rigidity, Centrally nucleated skel... |
OMIM:602771 |
| Fanconi Anemia |
|
Abnormality of the uterus, Hypospadias, Spina bifida, Cryptorchidism, Azoospermia, Decreased fert... |
ORPHA:84 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... |
OMIM:109150 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Scoliosis, Increased CSF lactate |
OMIM:618244 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Memory impairment, Gait disturbance, Gliosis, Emotional lability, Spasticity |
OMIM:603896 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture, Optic atrophy, Hypsarrhythmia, Low-set ears, Scoliosis |
OMIM:300884 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Gliosis, Myoclonus |
OMIM:225753 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low... |
OMIM:607641 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Centrally nucleated skeletal muscle fibe... |
OMIM:248800 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g... |
ORPHA:597 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic han... |
ORPHA:3115 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... |
OMIM:615156 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:98853 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Depression, Bradykinesia, Dementia,... |
OMIM:168601 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Sensorineural hearing impairment |
ORPHA:154 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... |
OMIM:608423 |
| Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete... |
OMIM:125250 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract... |
ORPHA:272 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:858 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Failure to thrive, Ventriculomegaly |
OMIM:618251 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy, Hearing impairment |
OMIM:255990 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... |
OMIM:613205 |
| Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Hypoglycemia, Nonketoti... |
OMIM:608836 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial diplegia, Distal amyot... |
OMIM:618184 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Sensorineural hea... |
ORPHA:99947 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Cryptor... |
ORPHA:486815 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Renpenning Syndrome 1 |
|
Hypospadias, Phimosis, Cupped ear, Renal hypoplasia, Protruding ear, Joint contracture of the han... |
OMIM:309500 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Short neck, Kyphosis, Cryptorchidism, Low-set ... |
OMIM:618393 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Ragged... |
ORPHA:352447 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:615048 |
| Myopathy, Myofibrillar, 6 |
|
Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Knee flexion contracture, Ge... |
OMIM:612954 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Obesity, Hypoplasia of the prostate, EEG abnormality, Scoliosis, Microp... |
OMIM:301900 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures |
ORPHA:1486 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... |
OMIM:618524 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:618709 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Arthrogryposis multiplex congenita, Macrotia, Ventriculomegaly |
ORPHA:85278 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Thrombocytopenia, Pancreatic cysts, Abnormality of the lympha... |
ORPHA:464329 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations, Gliosis |
OMIM:604484 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... |
OMIM:611067 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Myopathy, Scoliosis |
OMIM:618234 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conduction veloci... |
ORPHA:99014 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Dementia, Falls, Gliosi... |
ORPHA:683 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Failure to thrive, Rickets |
OMIM:211600 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy |
ORPHA:357043 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... |
OMIM:617760 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Decreased motor nerve co... |
OMIM:607706 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Acquired Partial Lipodystrophy |
|
Myopathy, Microscopic hematuria, Proteinuria, Hearing impairment |
ORPHA:79087 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Hypospadias, Unilateral cryptorchidism, Uplifted earlobe, Congenital diaphragmatic hern... |
OMIM:613406 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Shoulder girdle muscle weak... |
OMIM:253400 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:616282 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h... |
ORPHA:101081 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Sensorineural hearing impairment, Increased variabil... |
OMIM:619473 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism |
ORPHA:141333 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... |
OMIM:614399 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Posteriorly rotated ears, Facial hypotonia, Cachexia, Short neck, Failure to thr... |
OMIM:616801 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
| Aplasia Cutis Congenita |
|
Abnormality of bone mineral density |
ORPHA:1114 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, ... |
ORPHA:26792 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis |
OMIM:615376 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Distal amyotrophy, Decreased distal sensory nerve action potential, Foot dorsiflexor weakness, In... |
OMIM:618400 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Abnormal cerebrospinal fluid morphology, Hand muscle weakness, Ra... |
ORPHA:254886 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Sacral dimple, Small for gestational age, Phimosis, Cryptorchi... |
ORPHA:363611 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Hypogonadism, Congenital muscular dystrophy, Abnormality of ... |
ORPHA:1875 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Sensorineural hearing impairment, Increased muscle lipid content |
OMIM:610717 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... |
OMIM:615290 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoli... |
ORPHA:1145 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance,... |
OMIM:606069 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:611105 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Short neck, Elbow flexion contractu... |
ORPHA:371364 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... |
ORPHA:75840 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Confusion, Neurofibrillary tangles, Hypertonia, Dementia, Myoclonus, Semant... |
ORPHA:1020 |
| Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Conductive hearing impairment, ... |
ORPHA:821 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb muscle weakness, Distal amy... |
OMIM:605588 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Kyphoscoliosis, Hearing impairment |
OMIM:616684 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Progressive neurologic deterioration, Babinski sign, Depression, Pseudobulbar paralysis, ... |
OMIM:169500 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Hearing impairment, Cachexia, ... |
OMIM:618186 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers, Increased CSF lactate |
OMIM:618242 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy, Optic atrophy |
ORPHA:104 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma,... |
OMIM:232200 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Cardi... |
OMIM:235200 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Generalized amyotrophy, Bilateral sensorineural hearing impairment |
ORPHA:2589 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Abdominal obesity, Muscular dystrophy, L... |
OMIM:615980 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites |
OMIM:269920 |
| Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ventriculomegaly |
OMIM:613402 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
| Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Decreased muscle mass,... |
ORPHA:813 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Scoliosis, Hearing impairment |
ORPHA:702 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... |
OMIM:601455 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... |
ORPHA:329478 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Abnormal earlobe mo... |
ORPHA:85293 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Macrotia, Kyphoscoliosis |
OMIM:300886 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Myopathy, Bilateral se... |
ORPHA:397744 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Scoliosis, Foot dorsiflexor weakness |
OMIM:617207 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles, Dementia, Parkinsonism |
OMIM:104310 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... |
OMIM:161800 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers... |
OMIM:300219 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
| Masa Syndrome |
|
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis |
OMIM:303350 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, K... |
ORPHA:48431 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, EEG abnormality, Scoliosis |
OMIM:312750 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
| Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Sensorineural hearing impairment, Uppe... |
ORPHA:99950 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Cachexia,... |
ORPHA:42 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Sensorineural hearing impairment, Calf m... |
OMIM:158900 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Frontotemporal dementia, Gliosis, Progressive language det... |
OMIM:607485 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
| Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Facial hypotonia, Cryptorchidism, Congenital c... |
OMIM:618578 |
| Isaacs Syndrome |
|
EEG abnormality, Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnorm... |
OMIM:300614 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Abnormal moto... |
ORPHA:99939 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Siddiqi Syndrome |
|
Sensorineural hearing impairment, Flexion contracture, Lower limb amyotrophy, Urinary incontinence |
OMIM:618635 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Abnormal cerebrospinal f... |
ORPHA:100999 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Fo... |
OMIM:302802 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
EEG with burst suppression, Hydrocephalus |
OMIM:266100 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Optic atrophy, Scoli... |
OMIM:610965 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes... |
OMIM:118220 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Anemia |
ORPHA:75563 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi... |
ORPHA:101085 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Dementia, Parkinsonism |
OMIM:104300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Aminoaciduria, Generalized amyot... |
OMIM:609560 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Abnorma... |
OMIM:605253 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Urinary incontinence, Decreased nerve conduction velocity, Upper limb mu... |
OMIM:615284 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Myopathy, Bilateral sensorineural hearing impairment, Left ventricular ... |
OMIM:540000 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, Di... |
OMIM:275400 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Typical Nemaline Myopathy |
|
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ... |
ORPHA:171436 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Cryptorchidism, Abnormal sacrum morpholo... |
ORPHA:1926 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, External genital hypoplasia, Optic atrophy, Myopathy, Hypogonadism, Musc... |
ORPHA:559 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... |
ORPHA:98856 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Sensorineural hearing impairment, Ragged-red muscle fibers |
OMIM:617070 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Neurofibrillary tangles, Brady... |
OMIM:609454 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:264700 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
| Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, He... |
ORPHA:480 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... |
OMIM:617114 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:277440 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Limb-girdle muscle weakness, Sensorineural hearing impairmen... |
ORPHA:1215 |
| Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae... |
OMIM:230650 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hypertonia |
OMIM:612936 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Myopathy, EEG abnormality, Holoprosencephaly |
ORPHA:588 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Sandhoff Disease |
|
Kyphosis, Failure to thrive, Hearing impairment |
ORPHA:796 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Nephro... |
OMIM:130650 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Low-set ears, Cervical C2/C3 ... |
OMIM:616549 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... |
ORPHA:353 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Failure to thrive |
ORPHA:91130 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Sensori... |
OMIM:118300 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Urinary incontinence, Decreased amplitude of sensory a... |
OMIM:616688 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Short neck, Abnormal antihelix morphology, Large earlobe, Low-se... |
ORPHA:1438 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short neck, Hydrocephalus, Obesity, Azoospermia |
ORPHA:2183 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle w... |
OMIM:614409 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Depression, Hyperkinetic movements, Gait disturbance, Gliosis, Spasticity |
OMIM:300957 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy... |
ORPHA:300605 |
| Hemimegalencephaly |
|
Hemiparesis, Gliosis, Myoclonus |
ORPHA:99802 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility |
OMIM:617952 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia |
ORPHA:261102 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Testicular dysge... |
ORPHA:168563 |
| Temple Syndrome |
|
Posteriorly rotated ears, Small for gestational age, Precocious puberty, Cryptorchidism, Overweig... |
OMIM:616222 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Abnormal preputium morphology, Camptodactyly of finger, Hearing impai... |
ORPHA:2907 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Neurofibrillary tangles, Astrocytosis, ... |
OMIM:601104 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... |
ORPHA:100998 |
| 6P22 Microdeletion Syndrome |
|
Short neck, Hydrocephalus, Low-set ears, Overfolded helix, Hydronephrosis, Hearing impairment |
ORPHA:251046 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Cryptorchidism, Facial diplegia, Low-set ears, Sco... |
OMIM:611890 |
| H Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Lymphadenopathy, Hepatosplenomeg... |
ORPHA:168569 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Obesity, Scoliosis |
OMIM:616756 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Failure to thrive, Rickets |
OMIM:607765 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy, Functional abnormality of the bladder |
ORPHA:2571 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairment, Abnormality... |
OMIM:109120 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Neurofibrillary tangles, Abnormal pyramidal sig... |
OMIM:616840 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... |
OMIM:615084 |
| Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Optic atrophy, Horseshoe kidney, Decrea... |
OMIM:305000 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Sensorineural hearing im... |
ORPHA:3085 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Cryptorchid... |
ORPHA:457205 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Memory impairment, Abnormality of extrapyramidal motor function, Depression |
OMIM:608907 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis |
ORPHA:457240 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Increased CSF lactate, Myopathy... |
OMIM:616239 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Facial palsy, Kyphoscoliosis, Sensorineural hearing impairment, Optic atrophy, Organic aciduria, ... |
OMIM:614707 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon... |
ORPHA:98913 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... |
OMIM:618886 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Lacticaciduria, Distal amyotrophy, Scoliosis, Weakness of facial musculature... |
OMIM:618811 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... |
OMIM:608340 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Abnormal h... |
ORPHA:505248 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Small for gestational age, Ky... |
OMIM:613330 |
| Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, EEG abnormality |
ORPHA:3239 |
| Hypophosphatasia, Childhood |
|
Myopathy, Elevated urine pyrophosphate, Phosphoethanolaminuria |
OMIM:241510 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex... |
OMIM:618280 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... |
ORPHA:251004 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased CSF lactate |
OMIM:300816 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Dementia, Gliosis, Sh... |
ORPHA:411602 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Kyphosis, Cryptorchidism, Low-set ears, Shawl scrotum, Micropenis, Macr... |
OMIM:615433 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Camptodactyly of finger, Phimosis, Flexion contracture, Neoplasm of the urethra |
ORPHA:2908 |
| Leigh Syndrome |
|
Emotional lability, Spasticity, Ataxia, Gliosis |
OMIM:256000 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Urinary incontinence, Sensorineural hearing impairment, Lower limb amyotrophy, Optic atrophy, Upp... |
OMIM:270800 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Delayed menarche, Optic atrophy, Scoliosis |
ORPHA:330050 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... |
OMIM:253700 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Sensorineural hearing impairment, I... |
OMIM:614932 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Cryptorchidism, Failure to thrive, Hearing impairment |
ORPHA:217346 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Hemivertebrae, Rena... |
ORPHA:85284 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
| Progressive Non-Fluent Aphasia |
|
Parkinsonism, Neurofibrillary tangles, Frontotemporal dementia, Astrocytosis, Depression, Abnorma... |
ORPHA:100070 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Muscular dystrophy, Ventriculomegaly |
OMIM:614830 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Flexion contracture, Optic atrophy |
OMIM:613162 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Hypoglycemia, Nephrolithiasis, Stage 5 chronic ki... |
ORPHA:79259 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Abnormal pinna morphology, Hypospadias, Kyphosis, Cryptorchidism, M... |
OMIM:300354 |
| Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Abnormality of the ureter, Abnormal tragus morpholog... |
ORPHA:1133 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Hyd... |
OMIM:182940 |
| Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidn... |
ORPHA:110 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... |
ORPHA:206559 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... |
OMIM:254090 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Sensorineural hearing impairment, Dist... |
OMIM:604563 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Cryptorchid... |
ORPHA:2075 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy |
ORPHA:2349 |
| Congenital Hydrocephalus |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Colpoce... |
ORPHA:2185 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Low-set ears, Type 1... |
ORPHA:171433 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... |
OMIM:261740 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Glycogen Storage Disease X |
|
Myopathy, Renal insufficiency, Rhabdomyolysis, Myoglobinuria |
OMIM:261670 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Failure to thrive, Type 1 muscle fiber predominance |
OMIM:618276 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Abnormal lower-limb motor evoked potentials, Abnormal cerebrospinal fluid morphology, Hand muscle... |
ORPHA:320355 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, EEG abnormality, Failure to th... |
OMIM:245200 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... |
OMIM:300559 |
| Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Optic atrophy, Ma... |
ORPHA:1914 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Sensorineural hearing impairment, Ragged-red muscle fibers... |
OMIM:258450 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... |
ORPHA:99953 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Limb hypertonia |
OMIM:614498 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Incoordination, Tremor, Inability to walk, Dy... |
ORPHA:845 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Increased CSF lactate |
OMIM:613710 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Sensorineural hearing impairment, Optic atrophy, Myopa... |
ORPHA:98673 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Facial myokymia |
OMIM:620007 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Micr... |
ORPHA:2983 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Sho... |
OMIM:193700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular... |
OMIM:613155 |
| Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Optic atrophy, Scoliosis, Increased CSF lactate |
OMIM:500001 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Neurofibrillary tangles, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bra... |
OMIM:610217 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:255160 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory impairment |
OMIM:619132 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, P... |
ORPHA:79312 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Gliosis |
OMIM:256600 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Neuromyotonia, Foot dorsiflexor weakness |
OMIM:137200 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Hypertonia, Gliosis |
OMIM:615095 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Optic atrophy |
OMIM:618236 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy |
ORPHA:868 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... |
OMIM:614895 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased CSF lactate |
ORPHA:238329 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... |
ORPHA:280210 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Cryptorchidism, Optic atrophy... |
OMIM:615419 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Spasticity, Gliosis |
ORPHA:168486 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Niemann-Pick Disease, Type C1 |
|
Ataxia, CNS foam cells, Bone-marrow foam cells, Neurofibrillary tangles, Spasticity, Gait ataxia,... |
OMIM:257220 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
EEG abnormality, Skeletal muscle atrophy, Myopathy, Protruding ear |
ORPHA:85329 |
| Kennedy Disease |
|
Skeletal muscle atrophy, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Flexion contracture, Weight loss, Hematuria, Abnormal vag... |
ORPHA:99921 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Optic atrophy, Elbow flexion contracture |
OMIM:619470 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Cerebellar gliosis, Gliosis, Basal ganglia gliosis |
ORPHA:79243 |
| Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Hyperlordosis |
ORPHA:269 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis |
ORPHA:1548 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Kyphoscoliosis |
OMIM:607831 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapares... |
OMIM:607483 |
| Temple Syndrome |
|
Small for gestational age, Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity, Scoliosis |
ORPHA:254516 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Hy... |
ORPHA:3042 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight |
OMIM:614886 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony cortex |
OMIM:230600 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Hear... |
ORPHA:2953 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Hemivertebrae, Holoprosencephaly... |
ORPHA:77298 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
| Kindler Syndrome |
|
Urethral stenosis, Phimosis |
OMIM:173650 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Lower limb spasticity, Broad-based gait, Short attention span, Ataxia, Inability to... |
OMIM:617854 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Chronic kidney... |
OMIM:615630 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
| Emanuel Syndrome |
|
Sacral dimple, Torticollis, Failure to thrive, Ventriculomegaly, Congenital diaphragmatic hernia,... |
OMIM:609029 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence, Scoliosis |
OMIM:616907 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Aplasia/Hypop... |
ORPHA:3409 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myog... |
OMIM:201475 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... |
OMIM:218000 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Cryptorchi... |
OMIM:254940 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615683 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Sengers Syndrome |
|
Myopathy, 3-Methylglutaconic aciduria, Premature ovarian insufficiency |
OMIM:212350 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Low-set, posteriorly rotated ears... |
ORPHA:800 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
| Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy |
OMIM:612577 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension |
OMIM:610293 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Large for gestational age, Kyphosis, Sensorineural hearing impairmen... |
ORPHA:314588 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Optic atrophy, Abnormal... |
ORPHA:1328 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism... |
ORPHA:94065 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:213 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Dementia |
DECIPHER:48 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Distal amyotrophy... |
OMIM:607736 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Urinary incontinence, Ab... |
ORPHA:100993 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Kyphoscol... |
OMIM:145900 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia |
OMIM:612301 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary... |
ORPHA:79083 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Aminoaciduria |
ORPHA:33574 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myopathy, Optic atrophy, EEG with occipital epileptiform discharges |
ORPHA:254881 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hypoglycemia, Hepatoblastoma, Nephroblastoma, Cardiomegaly, N... |
ORPHA:116 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... |
ORPHA:119 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... |
ORPHA:1358 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly |
ORPHA:324416 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:99944 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Failure to thrive, Ventriculomegaly, Kyphoscoliosis, ... |
ORPHA:96170 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Kyphosis, Flexion contracture, Nephropathy, Hearing impairment |
ORPHA:87876 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Dilated third ventricle, Hydrocephalus... |
ORPHA:500055 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cryptorchidism, Hydro... |
ORPHA:2701 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Macrotia, Hypospadias, Protruding ear |
ORPHA:2013 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
| Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contracture, Weight loss, Distal amy... |
ORPHA:3208 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Cryptorchidism, Large earlobe, Trunc... |
ORPHA:127 |
| Melnick-Needles Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic ... |
ORPHA:2484 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Abnormal cerebrospinal f... |
ORPHA:171863 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Muscular dystrophy, Scoliosis, Generalized amyotrophy, Joint contracture |
OMIM:616516 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... |
ORPHA:2926 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Optic atrophy, Low-set ears, Scoliosis, Ventriculomegaly, Limb hypertonia |
OMIM:619527 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Short neck, Hydrocephalus, Flexion ... |
ORPHA:261290 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Scoliosis, Weakness of facial musculature, Limb muscle weakness, Hearing... |
ORPHA:329336 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, K... |
OMIM:618291 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy, Hypogonadism |
ORPHA:85283 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Scoliosis, Hypoplastic female external genitalia, Ventriculomegaly |
OMIM:618577 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hypoglycemia |
ORPHA:664 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Obesity, Microtia, Low-set ears, Mi... |
ORPHA:171839 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Myoglobinuria, Viral infection-induced rh... |
ORPHA:57 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Transient global amnesia, Tetraparesis... |
ORPHA:140989 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes... |
OMIM:118200 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss, Testicular neoplasm, Ovarian neoplasm |
ORPHA:83469 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Kyphosis, Cryptorchidism, Congenital contracture, Joint contracture of... |
ORPHA:352490 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Ascites |
OMIM:614702 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus, Vertigo, Upper limb muscle weakness, Lower limb muscle weakness |
ORPHA:252054 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Scoliosis |
ORPHA:101006 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Gliosis, My... |
OMIM:619847 |
| Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity |
ORPHA:88619 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo... |
ORPHA:85450 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Alzheimer Disease 4 |
|
Neurofibrillary tangles, Dementia, Cognitive impairment, Apraxia, Memory impairment |
OMIM:606889 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism... |
ORPHA:85323 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... |
OMIM:620285 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis, Hearing impairment |
OMIM:610743 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy |
ORPHA:1969 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Low-set ears |
ORPHA:1532 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age, Protruding ear |
OMIM:618302 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Dementia, Attention... |
OMIM:300100 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... |
OMIM:616827 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia |
ORPHA:309031 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Flexion contracture, Obesity, Hypogonadis... |
OMIM:615547 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Posteriorly rotated ears, Camptodactyly of finger, Unilateral renal agenesis, Kyphosis, Cryptorch... |
OMIM:619951 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy |
ORPHA:369840 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Short neck, Cryptorchidism, ... |
ORPHA:3376 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Hepatic ... |
ORPHA:79328 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Hypospadias, Camptoda... |
ORPHA:2311 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Short neck, Hydrocephalus, Low-set ears, Stenosis of the external auditory canal |
ORPHA:1516 |
| Tetrasomy 12P |
|
Cachexia, Short neck |
ORPHA:884 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Chronic otit... |
OMIM:609757 |
| Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
| L1 Syndrome |
|
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites |
OMIM:253250 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Camptodactyly of to... |
OMIM:175700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Low-s... |
ORPHA:8 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy |
OMIM:183050 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy, Hearing impairment |
OMIM:615191 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture |
OMIM:616286 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria,... |
ORPHA:508 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, External ear malformation, Cryptorchidism... |
ORPHA:2323 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Decreased nerve conduc... |
ORPHA:812 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy, Scoliosis |
ORPHA:369847 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Failure to thrive, Rickets |
ORPHA:2088 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy,... |
ORPHA:370959 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid... |
ORPHA:54251 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
| Whipple Disease |
|
Cachexia, Myositis, Hydrocephalus, Erectile dysfunction |
ORPHA:3452 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Cryptorchidism, Scoliosis, Macrotia, Hydronephrosis, Ventriculomegaly |
OMIM:619797 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Ventriculomegaly, Heari... |
ORPHA:93274 |
| Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Majeed Syndrome |
|
Proteinuria, Cachexia, Microscopic hematuria, Flexion contracture, Weight loss, Failure to thrive |
ORPHA:77297 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture, Hypo... |
OMIM:606631 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Optic atrophy, Left ventricular hypertrophy, Failure ... |
OMIM:618228 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Myopathy, Ethylmalonic aciduria, Scoliosis, Weakness of facial musculature, ... |
OMIM:201470 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Myopathy, Renal tubular... |
OMIM:614922 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
EEG abnormality, Hydrocephalus, Optic atrophy, Hypsarrhythmia |
OMIM:618174 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Thrombocytosis, Fa... |
OMIM:212750 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomeg... |
ORPHA:465508 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary amenorrhea, Polycystic ovaries... |
ORPHA:2348 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Dementia, Spasticity, Intention tremor |
OMIM:117300 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... |
OMIM:619260 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Ragged-red muscle fibers, Limb muscle weakness, Progressive hear... |
OMIM:609286 |
| Becker Nevus Syndrome |
|
Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, Spina bifida occulta, ... |
ORPHA:64755 |
| Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
| Spastic Paraplegia 2, X-Linked |
|
Optic atrophy, Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness |
OMIM:312920 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Hydrocephalus, Cupped ear, Horseshoe kidney, Low-set ears, Camptodactyly, Hydrone... |
OMIM:614846 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Low-set ears, Weight loss |
OMIM:620045 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF ... |
OMIM:616034 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
| Richards-Rundle Syndrome |
|
Distal amyotrophy, Ketonuria, Hypergonadotropic hypogonadism, Hearing impairment |
ORPHA:1399 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Incr... |
ORPHA:2909 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Somatic sensory dysfunction, Short attention span, Ataxia, Parkinsonism, Precocio... |
ORPHA:909 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Myopat... |
OMIM:619743 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... |
ORPHA:324604 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Skeletal muscle atrophy, Limb joint contracture, Kyphoscoliosis |
OMIM:612079 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Cachexia, Myopathy, Scoliosis, Macrotia, Uterine neoplasm |
ORPHA:109 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve compression, Abnormality of th... |
ORPHA:52430 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Abnormal testis morphology, Hearing impairment, Protruding ear |
ORPHA:317 |
| Chanarin-Dorfman Syndrome |
|
Myopathy, Sensorineural hearing impairment, Microtia |
OMIM:275630 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Abnormal pinna morphology, Facial palsy, Hypogonado... |
ORPHA:3068 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O... |
ORPHA:1528 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Optic atrophy, Protruding ear, Scoliosis, Joint contracture, Macrotia |
OMIM:617481 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Sensorineural hearing impairment, Ragged-red muscle fibers, Weight loss, Distal amyotro... |
OMIM:603041 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis |
OMIM:300215 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Low-set ears, Ventr... |
ORPHA:2655 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Irritability, Gliosis, Myoclonus |
OMIM:618321 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Osteolysis, Patchy reduc... |
ORPHA:249 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... |
ORPHA:169189 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, V... |
OMIM:603387 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Nephritis |
OMIM:274240 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Increase... |
OMIM:615418 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Abnormal sacrum mo... |
ORPHA:1756 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Kyphosis, Cryptorchidism, EEG abnormality, Vertebral segmentat... |
ORPHA:2617 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Renal insufficiency, Rhabdomyolysis, Exercise-induced myoglobinuria |
OMIM:300653 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis, Progressive neurologic deterioration |
OMIM:214150 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Kyphosis, Sensorineural ... |
ORPHA:464282 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Decreased body weight |
ORPHA:477814 |
| Papillary Tumor Of The Pineal Region |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Small earlobe, Sensorineural hearing impairment, Obesity, Myopathy, Shoulder girdle muscle weakne... |
ORPHA:98907 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment |
ORPHA:137817 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Scoliosis |
ORPHA:98896 |
| Adrenomyodystrophy |
|
Myopathy, Failure to thrive, Megacystis |
ORPHA:977 |
| Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Sensorineural hearing impairment, Short neck |
OMIM:616455 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis... |
OMIM:255800 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypoglycemia, Elevated ci... |
OMIM:614921 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Optic atrophy, Cachexia, Hearing impairment |
ORPHA:220295 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, ... |
ORPHA:2437 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Gliosis, Extrapyramidal dyskinesia, Opisthotonus |
OMIM:277470 |
| Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Hemivertebrae, Ve... |
ORPHA:377 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2322 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
| Achondroplasia |
|
Lumbar hyperlordosis, Hearing impairment, Kyphosis, Hydrocephalus, Spinal canal stenosis, Obesity... |
ORPHA:15 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Urinary incontinence... |
OMIM:604320 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Abnormal location of ears, Ventricu... |
OMIM:218350 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Multifocal epileptiform discharges, Scoliosis |
ORPHA:505652 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Congenital diaphragmatic hernia, Cach... |
ORPHA:3380 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Hearing impairment |
OMIM:613077 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, In... |
ORPHA:79277 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Low-set ears, Scoli... |
ORPHA:2180 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Hydrocephalus, Lower limb hypertonia, Scoliosis, Failure to thrive, Ve... |
ORPHA:2169 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Abnormal form of the vertebral bodies, ... |
ORPHA:93262 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Hearing impairment, Lacticaciduria, EEG abnormality, Distal amyotrophy, Limb hypertonia |
OMIM:618247 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus |
ORPHA:73256 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Heparan sulfate excret... |
OMIM:253220 |
| Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skel... |
OMIM:607459 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Low-set ears, Scoliosis |
OMIM:615761 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Decreased nerve conduction velocity, Abnormality o... |
ORPHA:600 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Short neck, External ear malformation, Kyphosis, Sensorineural hearing impairment, P... |
ORPHA:254346 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, Scol... |
OMIM:619833 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Neonatal... |
ORPHA:1667 |
| Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis,... |
ORPHA:59 |
| Adult Krabbe Disease |
|
Increased CSF protein concentration, Prolonged brainstem auditory evoked potentials, Urinary inco... |
ORPHA:206448 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy, Hearing impairment |
OMIM:221350 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Neurofibrillary tangles, Frontotemporal dementia, Parkinsonism ... |
ORPHA:199351 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Hypospadias, Facial palsy, Flexion contracture, Facial diplegia, Low-set... |
ORPHA:171430 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Sensorineural hearing impairment, Flexion contracture, Opt... |
OMIM:304340 |
| Crouzon Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Conductive hearing impairment, Narrow i... |
ORPHA:207 |
| Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:607458 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Kyphosis, Low-set ears, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615834 |
| Usher Syndrome |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia, Decreased f... |
ORPHA:886 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy |
ORPHA:247604 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal fo... |
ORPHA:628 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2181 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight los... |
ORPHA:71273 |
| Niemann-Pick Disease, Type C2 |
|
Ataxia, CNS foam cells, Bone-marrow foam cells, Neurofibrillary tangles, Spasticity, Dementia, Ca... |
OMIM:607625 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Neurogenic bladder, Posteriorly rotated ears, Short neck... |
OMIM:130720 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Alpha-Mannosidosis |
|
Short neck, Kyphosis, Macroglossia, Abnormal helix morphology, Scoliosis, Chronic otitis media, M... |
ORPHA:61 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, U... |
OMIM:604360 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Abnormality of the ureter, Abnormal f... |
ORPHA:1834 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... |
OMIM:620351 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Distal amyotrophy, Scoliosis |
OMIM:609541 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Ventriculomegaly, Posteriorly rotated ears, Cryptor... |
ORPHA:899 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Lacticaciduria, Methylmalonic aciduria, Increased CSF lactate, Failure t... |
OMIM:245400 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Small for gestational age, Sensorineural hearing impairment, Methylmalon... |
OMIM:612073 |
| Madras Motor Neuron Disease |
|
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Distal amyotrophy, Tinnitus |
ORPHA:137867 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
| Optic Pathway Glioma |
|
Papilledema, Precocious puberty, Vertigo, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensorineural hearing impairm... |
OMIM:162400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Sensorineural hearing impairment, Flexion contracture, Muscular dystrophy, Scoliosis |
OMIM:615249 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Abnormality of muscle size, Uplifted earlobe, Kyphosis, Cryptorchidism, Scolios... |
ORPHA:364028 |
| Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Weight loss, Hearing impairment |
ORPHA:33355 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing... |
ORPHA:221008 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Failure to thrive, D... |
OMIM:612938 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Ab... |
ORPHA:3082 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Le... |
OMIM:617713 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Mucopolysacchariduria, Chronic otitis... |
ORPHA:583 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing... |
ORPHA:221016 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, Low-set ears, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy, Hydranencephaly, Ma... |
OMIM:605013 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Metrorrhagia, Precocious puberty, Ver... |
ORPHA:370348 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Sensorineural hearing impairment, Joint contracture of the 5th... |
ORPHA:1883 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Scoliosis |
OMIM:618239 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616355 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Cryptorchidism, Scoliosis, Male hypogonadism, Joint c... |
OMIM:615381 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Cryptorchidism, Hydrocephalus, Optic atrophy, Low-set ears, Ambiguous ge... |
OMIM:614969 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter, Ventriculomegaly, Increased CSF lactate |
OMIM:604377 |
| Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Hypoplastic labia majora, Camptodactyly of 2nd-5th fingers, Lumbar scolios... |
OMIM:609128 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Recurrent fractures, Camptodactyly of finger, Flexion contracture, Osteoporosis, Limi... |
ORPHA:3206 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Increased variability in muscle fiber diameter, Primary amenorrhea, Increased ... |
ORPHA:502423 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormality of the vertebral column, Abnorm... |
OMIM:276950 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Short neck, Hydrocephalus, Micropenis, Hypogonadism, Low-set ears... |
OMIM:300514 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Th... |
ORPHA:2232 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Failure... |
ORPHA:367 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Ataxia, Inability to walk, Upper limb spasticity, Tongue fasciculations, G... |
OMIM:617193 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Kyphosis, Ventriculomegaly, Limb hypertonia |
ORPHA:500180 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Po... |
ORPHA:2461 |
| Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ... |
OMIM:618733 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Hogue-Janssen Syndrome 2 |
|
Facial hypotonia, Unilateral renal agenesis, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616362 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Cryptorchidism, Renal hypo... |
ORPHA:191 |
| Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Dandy-Walker malformation, Hypospadias, Short neck, Kyphosis, Cryptorchidi... |
OMIM:248700 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Posteriorly rotated ears, Facial palsy, Urinary incontinence, Short neck, Kyphos... |
OMIM:301041 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Multiple joint contractures, Sensorineural hearing im... |
ORPHA:506 |
| Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
| Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Failure to thrive, Limb joint contracture, Urinary incontinence |
ORPHA:309162 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
| Melas |
|
Increased CSF protein concentration, Hypogonadotropic hypogonadism, Proteinuria, Sensorineural he... |
ORPHA:550 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:3217 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibr... |
ORPHA:562 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:620378 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis, Protruding ear |
ORPHA:85317 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Lissencephaly 8 |
|
Skeletal muscle atrophy, Occipital encephalocele, Optic atrophy, Ventriculomegaly |
OMIM:617255 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Failure to thrive, Camptodactyly of ... |
ORPHA:2990 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... |
ORPHA:90797 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex, Large for gestational age |
OMIM:612731 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine ... |
ORPHA:391428 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis, EEG abnormality |
ORPHA:1858 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Ventriculomegaly, Posteriorly rotated ears, Hypospad... |
OMIM:257300 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy, Urinary incontinence |
ORPHA:100988 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Abnormality of the middle ear ossicles, Sensorineural hearing impair... |
ORPHA:2549 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Muscular dystrophy, Left ventricular hypertrophy, Dandy-Walker m... |
OMIM:613153 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Sensorineural hearing impairment, Gen... |
ORPHA:98908 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
| Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Kyphoscoliosis, Protruding ear, Enuresis nocturna, Platyspondyly, Scolio... |
OMIM:614856 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive, Ventriculomegaly |
OMIM:618603 |
| Hereditary Xanthinuria |
|
Crystalluria, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis, Myopathy, Hematuria, Increas... |
ORPHA:3467 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Hematuria,... |
ORPHA:91547 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Congenital diaphragmatic hernia, External ear malformation, Cryptorchidism, Hyd... |
ORPHA:1647 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis, Elevated urinary ep... |
OMIM:162300 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Hydrocephalus, Irregular menstruation, Plat... |
OMIM:616482 |
| 3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Short neck, Kyphosis, Hydrocephalus, Hemivert... |
ORPHA:7 |
| Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Diaphragmatic eventration, Dand... |
OMIM:310400 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
| Trisomy 13 |
|
Kyphosis, Sensorineural hearing impairment, Cryptorchidism, Abnormality of the ureter, Optic atro... |
ORPHA:3378 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Low-set ears, Scoliosis, Ventriculomegaly, Hearing impairment |
ORPHA:238750 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Decreased sensory nerve conduction velocity, Urinary incontinence, Optic... |
OMIM:609033 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Facial palsy, Hydrocephalus, Optic atrophy, Facial paral... |
OMIM:259700 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Protruding ear, Scoliosis, F... |
ORPHA:2115 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:682 |
| Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Sensorineural hearing impairment, Spinal canal steno... |
ORPHA:828 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Sensorineural hearing impairment, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle... |
ORPHA:100986 |
| Mannosidosis, Alpha B, Lysosomal |
|
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, Spasticity |
OMIM:248500 |
| Seckel Syndrome |
|
Abnormal earlobe morphology, Cachexia, Absent earlobe, Scoliosis |
ORPHA:808 |
| Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Elevated urinary norepinephrine level, Paroxysmal vertigo, Elevated urinary d... |
ORPHA:94080 |
| Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:380 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Irregular me... |
OMIM:101800 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
| Mend Syndrome |
|
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Cryptorchidism, Hydrocephalus, Low-... |
ORPHA:401973 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Nephrolithiasis, Obesity, Abdominal obesity, Oligomenorrhea, B... |
OMIM:219090 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Rhabdomyolysis, Myopathy, Myoglobinuria, Failure to thrive |
OMIM:609015 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Renal insufficiency, Rhabdomyolysis, Myoglobinuria |
ORPHA:713 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hydrocephalus, Muscular dystrophy |
OMIM:615181 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia |
ORPHA:52503 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... |
OMIM:613848 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydrocephalus, Hemivertebrae, Low-set ears, Hydronephrosis, Dandy-Walker malformation |
OMIM:220210 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Failure to thrive, Foot joint contractu... |
ORPHA:90321 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epi... |
ORPHA:157 |
| Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
| Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Rhabdomyosarcoma, Short neck, Cachexia, Hearing abnormality, Pollakisuri... |
ORPHA:647 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Hirschsprung Disease |
|
Aganglionic megacolon, Sensorineural hearing impairment, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
| Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu... |
OMIM:143880 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... |
OMIM:314580 |
| Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Myopathy, Calf muscle hypertrophy, Recurren... |
ORPHA:261476 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As... |
OMIM:616897 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Recurrent otitis media, Conductive hearing i... |
ORPHA:244 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Increased CSF protein concentration, Paroxysmal no... |
OMIM:612300 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, G... |
ORPHA:994 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Kyphosis, Myopathy, Failure to thrive |
OMIM:615512 |
| Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory e... |
OMIM:216400 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Multifocal epileptiform discharges, In... |
OMIM:614300 |
| Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Kyphosis, Protruding ear, Distal arthrogryposis, Firm muscles, Scoliosis, ... |
OMIM:108145 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Rhabdomyolysis, Red-brown urine, Myopathy, Myoglobinuria, Dandy-Walker malformation |
ORPHA:228305 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Sensorineural hearing impairment |
OMIM:616896 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Microtia, Horner syndrome |
OMIM:141300 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy |
OMIM:616881 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Short neck, Heparan sulfate excretion in urine, Kyphosis, Hydrocephalus, Flexion con... |
OMIM:309900 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Hyperlordosis, Short neck, Kyphosis, Abnormality of the middle ear ossi... |
ORPHA:2789 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Sensorineural hearing impairment, Scoliosis |
ORPHA:79107 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Precocious puberty, Kyphosis, Cryptorchidism, Flexion... |
ORPHA:398069 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Cryptorchidism, Fl... |
OMIM:255995 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... |
OMIM:617253 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, R... |
OMIM:137920 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Cachexia, Sensorineural hearing impairment, Hydrocephalus, Azoospermia, Scoliosis, T... |
ORPHA:2072 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Shor... |
OMIM:613686 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, EEG with polyspike wave complexes, Kyphoscoliosis, Spinal rigidit... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, EEG with polyspike wave complexes, Kyphoscoliosis, Spinal rigidit... |
ORPHA:590 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Kyphosis, Aplasia/Hypoplasia o... |
ORPHA:2916 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Scolios... |
OMIM:617053 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Dandy-Walker malformation |
ORPHA:163961 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Sensorineural hearing impai... |
OMIM:211530 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy |
OMIM:205250 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| Trisomy 10P |
|
Decreased muscle mass, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evo... |
ORPHA:171929 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Protruding ear, Lateral ventricle dilatation, Low-set ears, Limb hy... |
OMIM:614219 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Hydranenc... |
ORPHA:2839 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Rickets, Red... |
OMIM:613658 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Abnormal pinna morphology, Dandy-Walker malformation |
OMIM:147800 |
| Fucosidosis |
|
Decreased muscle mass, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae, Fai... |
ORPHA:349 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Elbow flexion contracture, Hypogonadism, Decrea... |
OMIM:616200 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakne... |
ORPHA:466768 |
| Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
| Immunodeficiency 9 |
|
Myopathy, Failure to thrive |
OMIM:612782 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordos... |
ORPHA:568 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Hypospadias, Increased CSF lactate, Failure to thrive, Ventriculomegaly |
OMIM:619272 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive, Optic nerve hypoplasia, Hearing impairment |
OMIM:620157 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia |
OMIM:127000 |
| Shashi-Pena Syndrome |
|
Posteriorly rotated ears, Unilateral renal agenesis, Kyphosis, Cupped ear, Mild fetal ventriculom... |
OMIM:617190 |
| Cockayne Syndrome Type 2 |
|
Kyphosis, Cryptorchidism, Flexion contracture, Limb hypertonia, Scoliosis, Male hypogonadism, Mac... |
ORPHA:90322 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hepatic failure, ... |
OMIM:608013 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Infantile Nephropathic Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:411629 |
| Fg Syndrome Type 1 |
|
Sacral dimple, Progressive flexion contractures, Hypospadias, Optic nerve hypoplasia, Cryptorchid... |
ORPHA:93932 |
| Cousin Syndrome |
|
Posteriorly rotated ears, Hearing impairment, Short neck, Hydrocephalus, Ambiguous genitalia, fem... |
OMIM:260660 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture, Scoliosis |
OMIM:615704 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita |
ORPHA:2254 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Conductive hearing impairment, Low-set, posteriorly rotated ears... |
ORPHA:1606 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Low-set ears |
OMIM:220220 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis, Protruding ear |
OMIM:300861 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Hearing impairment |
OMIM:601499 |
| Baralle-Macken Syndrome |
|
Kyphosis, Urinary incontinence, Obesity |
OMIM:619255 |
| 3M Syndrome |
|
Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, D... |
ORPHA:2616 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Spinal rigidity, Hydrocephalus, Flexion contracture, Opti... |
OMIM:253800 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis, Myoclonus |
OMIM:614946 |
| Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Failure to thrive, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
| Wolfram Syndrome |
|
Dysuria, Sensorineural hearing impairment, Optic atrophy, Myopathy, Male hypogonadism, Hypogonadi... |
ORPHA:3463 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Optic atrophy, Facial palsy, Hearing impairment |
ORPHA:53 |
| Wilson Disease |
|
Back pain, Abnormality of the menstrual cycle, Increased body weight, Weight loss, Proximal muscl... |
ORPHA:905 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Decreased muscle mass, Hydrocephalus, Protruding ear, Scoliosis, Failure to thrive |
OMIM:612940 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Low-set ears |
ORPHA:1895 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Hepatoblastoma, Splenomegaly, Renal cyst, D... |
OMIM:312870 |
| 2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, O... |
ORPHA:261349 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Congeni... |
OMIM:613150 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Vertigo, Hydrocephalus, Severe sensorineural hearin... |
OMIM:614195 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy, Nephropathy |
ORPHA:2238 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Gliosis, Spastic tetraplegia |
ORPHA:3240 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Ventriculomegaly, H... |
ORPHA:1860 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Low-set ears, Hypoplasia of the antihelix, Failure to thrive, Hearing im... |
OMIM:616420 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... |
ORPHA:254892 |
| Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex, Decreased body weight |
OMIM:605822 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Lateral ventricle dilatation... |
OMIM:613154 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Spastic tetraplegia, Opisthotonus, Irritability, Hypertonia, Gliosis, Myoclonic spasms |
OMIM:252160 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities, Dicarboxylic aciduria, Failure to thrive |
ORPHA:99901 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Optic atrophy, Upper limb muscle weakness, Facial di... |
ORPHA:254930 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati... |
OMIM:602200 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hydrocephalus, Hypoplasia of the uterus,... |
OMIM:309801 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Hurler Syndrome |
|
Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process, Kyphosis, Fle... |
OMIM:607014 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital kyphoscoliosis, Kyphoscoliosis, Sensorineural hearing impairm... |
ORPHA:536545 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
| Prader-Willi Syndrome |
|
Decreased muscle mass, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia,... |
OMIM:176270 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Protrud... |
ORPHA:481152 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities, Failure to thrive |
ORPHA:71 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Abnormal heart morphology, Mitral valve prolapse, Enuresis no... |
OMIM:615873 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Increased CSF lactate, EEG abnormality, Abnormal autonomic nervous syste... |
ORPHA:778 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Abnormal pinna morphology, Hypospadias, Small for gestational age, Protr... |
OMIM:615471 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Macrotia, Decreased body weight |
OMIM:617695 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Ataxia, Parkinsonism, Inability to walk, Paraparesis, Memory impairment, De... |
ORPHA:2822 |
| Congenital Myopathy 17 |
|
Failure to thrive in infancy, Renal hypoplasia, Myopathy, Distal arthrogryposis, Low-set ears, Di... |
OMIM:618975 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy |
OMIM:608627 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Short neck, Hydrocephalus, Colpocephaly, Congenital contracture, Low-set ears, Ventriculomegaly |
OMIM:620156 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Limitation of joint mobility, Cranial hyperostosis, Joint hyperfl... |
ORPHA:2658 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Spina bifida, Short neck... |
ORPHA:261318 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
| Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Widening of cervical spinal canal, Arthrogryposis multiplex congenita, H... |
OMIM:253310 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the ab... |
ORPHA:354 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Oeis Complex |
|
Absence of the sacrum, Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia... |
OMIM:258040 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Postural tremor, Ataxia, Babinski sign, Lower limb hypertonia, Gliosis, Myoclonus, Truncal ataxia... |
OMIM:301072 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Skeletal muscle atrophy, Hypospadias |
OMIM:619759 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
| Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t... |
ORPHA:573278 |
| Leber Optic Atrophy |
|
Myopathy, Optic atrophy, Optic neuropathy |
OMIM:535000 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Proximal upper limb muscle hypertrophy, Secondary amenorrhea, Polycystic ovaries, S... |
ORPHA:280365 |
| Cystinosis, Nephropathic |
|
Male infertility, Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, P... |
OMIM:219800 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... |
ORPHA:368 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Camptodac... |
OMIM:617822 |
| Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Ambiguous genitalia, Communicating hydrocephalus |
ORPHA:1237 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... |
OMIM:130060 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Hypoplastic vertebral bodies, Mucopolysacchariduria, Increased CSF protein concent... |
OMIM:272200 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Failure to thrive, Abnormal pinna morphology, Camptodactyly of finger, Hypospadias... |
ORPHA:90652 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Juvenile Huntington Disease |
|
Ventriculomegaly, Weight loss |
ORPHA:248111 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Low-set ears, Camptodactyly, Mild hearing ... |
ORPHA:459061 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Male infertility |
OMIM:300991 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, Joint contractur... |
OMIM:225790 |
| Monosomy 18Q |
|
Failure to thrive, Kyphoscoliosis, Bilateral cryptorchidism, Sensorineural hearing impairment, Hy... |
ORPHA:1600 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis |
ORPHA:27 |
| Peho Syndrome |
|
External ear malformation, Hydrocephalus, Flexion contracture, Optic atrophy, Hypsarrhythmia, EEG... |
ORPHA:2836 |
| Marfan Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Meningocele, Scoliosis, Slender build, Spondylolisth... |
ORPHA:558 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Bilateral renal hypoplasia, Myopathy, Low-set ears, Hydron... |
OMIM:243605 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Testicular torsion |
ORPHA:75496 |
| Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormal vestibular function, Skeletal muscle atrophy |
ORPHA:98757 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Hajdu-Cheney Syndrome |
|
Failure to thrive, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Hydrocephalus, Tall l... |
OMIM:102500 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Unilateral cryptorchidism, Interictal epileptiform activity |
OMIM:618862 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking |
OMIM:618222 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Macrotia |
OMIM:300558 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... |
OMIM:164400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Posteriorly rotated ears, Spina bifida, Short neck, Hydrocephalus, Elbow flexion c... |
OMIM:613776 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Short neck, Cryptorchidism, Hydrocephalus, Flexion contr... |
ORPHA:1865 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hyperlordosis, Hypoplasia of the odontoid process, Sensorineural hearing impairment, Flexion cont... |
OMIM:616007 |
| Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Brachial plexus neuropathy, Low-set ears |
OMIM:162100 |
| Alexander Disease |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Aqueductal stenosis, Hydro... |
ORPHA:58 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Polycystic kidney dysplasia, Low-set ears, Failure to thrive |
OMIM:608776 |
| Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... |
OMIM:305620 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni... |
OMIM:249100 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Hemivertebrae, Renal hypo... |
OMIM:264480 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Micropenis, Hydrocephalus |
OMIM:241800 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness |
OMIM:207950 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnormal optic disc morphology, Chron... |
ORPHA:96121 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Hypospadias, Kyphoscoliosis, Kyphosis, Sensorineural hearing impairment... |
OMIM:301040 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Mixed hearing impairment, Facial hypotonia, Short... |
ORPHA:309282 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Failure to thrive in infancy, Cachexia, Tubulointerstitial nephritis, Nephrotic syndrom... |
ORPHA:37042 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Cryptorchidism, Abnormality of skeletal muscle fib... |
ORPHA:168572 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Mucopolysaccharidosis Type 1 |
|
Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Spinal canal stenosis, Abnormal f... |
ORPHA:579 |
| Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Long penis, Ovarian cyst, Low-set ears, Severe failu... |
OMIM:246200 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation, Small for gestational age, Low-set ears |
ORPHA:79332 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:3191 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
| Microsporidiosis |
|
Myositis, Cachexia, Prostatitis, Urethritis, Abnormal endometrium morphology, Weight loss, Abnorm... |
ORPHA:2552 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy |
OMIM:614808 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Proteus Syndrome |
|
Decreased muscle mass, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Kyphosis, Long... |
ORPHA:744 |
| Desmosterolosis |
|
Failure to thrive, Posteriorly rotated ears, Hydrocephalus, Cupped ear, Ambiguous genitalia, fema... |
OMIM:602398 |
| Norrie Disease |
|
Failure to thrive, Cachexia, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Pro... |
ORPHA:649 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho... |
ORPHA:293173 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Hearing abnormality, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Optic atr... |
ORPHA:1555 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy |
OMIM:617892 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis, Dementia |
OMIM:203700 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Abnormal nerve conduct... |
ORPHA:98755 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Protruding ear, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Aganglionic megacolon, Kyphosis, Chronic kidney disease, Obesity, Vesicoureteral reflux |
ORPHA:261222 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Spina bifida, Aqueductal stenosis, Cryptorchidism,... |
ORPHA:3412 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gliosis |
ORPHA:26791 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Flexion contracture, Abnormal ovarian morphology, Vesicoureteral reflux, Cond... |
ORPHA:95699 |
| Spinocerebellar Ataxia Type 18 |
|
Skeletal muscle atrophy, Hearing impairment |
ORPHA:98771 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Anencephaly, Low-set ears, Abno... |
ORPHA:2189 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Abnormal pinna morphology, Low-set ears |
ORPHA:77300 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Bifid thoracic vertebrae, Anotia,... |
ORPHA:268249 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidis... |
ORPHA:3301 |
| Hurler Syndrome |
|
Camptodactyly of finger, Short neck, Hydrocephalus, Spinal canal stenosis, Macroglossia, Mucopoly... |
ORPHA:93473 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Fountain Syndrome |
|
Spina bifida, Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, ... |
ORPHA:3219 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures |
ORPHA:2028 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux, Weight loss, Failure to thrive, Heari... |
OMIM:619377 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Spinal rigidity |
OMIM:620326 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... |
ORPHA:308552 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur... |
OMIM:205100 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Posteriorly rotated ears... |
ORPHA:2215 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic lab... |
ORPHA:2510 |
| Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Recurrent otitis media, Failure to thrive, Foot dorsiflexor weak... |
OMIM:169400 |
| Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:180870 |
| Arachnoid Cyst |
|
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Urinary incontinence, V... |
ORPHA:2356 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Iniencephaly |
|
Encephalocele, Congenital diaphragmatic hernia, Hyperlordosis, Spina bifida, Myelomeningocele, Ab... |
ORPHA:63259 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Protruding ear, Interictal epileptiform activity, Vesicoureteral reflux, Hyp... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Protruding ear, Interictal epileptiform activity, Vesicoureteral reflux, Hyp... |
ORPHA:363958 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Cryptorchidism, Myopathy, Muscular dystrop... |
OMIM:307030 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Scoliosis |
OMIM:617542 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Limb-girdle muscle weakness, Rhabdomyolysis, Irregular men... |
ORPHA:79240 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Optic disc pallor, Kyphoscoliosis, Short neck, Hypoplasia of the odontoi... |
OMIM:300232 |
| Oculodentodigital Dysplasia |
|
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger |
ORPHA:2710 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Short neck, External ear malformation, Cryptorchidi... |
ORPHA:251071 |
| Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy, Atresia of the external auditory canal, Conductive hearing impairme... |
OMIM:123500 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Hypoplasia of the cochlea, Enuresis nocturna, Hypoplasia of... |
ORPHA:251061 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Optic atrophy, Elevated urine acetoacetic acid level, 3-Methylglutaconic... |
OMIM:620089 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Hypospadias, Kyphosis, Cryptorchidism, Protruding ear, Ve... |
ORPHA:96169 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Hydrocephalus, Low-set ears |
ORPHA:2409 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
| Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Aganglionic megacolon, Hyd... |
ORPHA:2318 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Vertigo, Upper limb muscle weakness, Sh... |
ORPHA:263297 |
| Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
| Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Hydrocephalus, Low-set ears |
OMIM:300863 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... |
OMIM:253010 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, A... |
ORPHA:2462 |
| Jacobsen Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Hydrocephalus, Flexion contracture, Optic atrophy, Clito... |
OMIM:147791 |
| Scleromyxedema |
|
Myopathy, Abnormality of central nervous system electrophysiology, Abnormal skeletal muscle morph... |
ORPHA:167635 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Kyphosis, Cryptorchidism, Protruding ear, Colpocephaly, Scoliosis, Chroni... |
ORPHA:261250 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Upper limb mu... |
ORPHA:320375 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocep... |
OMIM:615219 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss, Ovarian neoplasm |
ORPHA:2221 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Anencephaly, Polycystic kidney dyspla... |
OMIM:616546 |
| Tetrasomy 5P |
|
Posteriorly rotated ears, Short neck, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall mus... |
ORPHA:3309 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short nec... |
ORPHA:1780 |
| Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Urinary incontinence |
OMIM:105300 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Aganglionic megacolon, Hyd... |
ORPHA:220497 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Optic atrophy, Facial diplegia, Facial paralysis, Failure to thrive |
OMIM:613559 |
| Tenorio Syndrome |
|
Hydrocephalus, Macroglossia, Enuresis, Scoliosis, Ventriculomegaly |
OMIM:616260 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contr... |
ORPHA:464311 |
| Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Proteinuria, Optic atrophy, Stage 5 chronic kidney disease, Weight loss, Low... |
OMIM:619487 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Hearing abnormality, Failure to thrive, Short neck |
ORPHA:1842 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Failure to thrive, Small for gestational age, Anteverted ears, K... |
OMIM:610443 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Optic atrophy, Generalized amyotrophy, Ventriculomegaly, Limb hypertonia |
OMIM:617710 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cryptorchidism, Sensorineural hearing impairment, Myopathy, Otitis media, Failure to thrive, Hydr... |
OMIM:612541 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Scoliosis |
ORPHA:1335 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uterus, Epispadias,... |
ORPHA:322 |
| Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Mucopolysacchariduria, Abnormalit... |
ORPHA:585 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Tubulointerstitia... |
OMIM:232500 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Hydrocephalus... |
ORPHA:77301 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hydrocephalus, Optic atrophy, Proximal tubulopathy, Failure to thrive,... |
OMIM:614576 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Low-set ear... |
ORPHA:140 |
| Cog8-Cdg |
|
Skeletal muscle atrophy, Failure to thrive, Ventriculomegaly |
ORPHA:95428 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Kyphosis, Hydrocephalus, Optic atrophy, Platyspondyly... |
OMIM:618476 |
| Alstrom Syndrome |
|
Renal insufficiency, Hypergonadotropic hypogonadism, Kyphosis, Irregular menstruation, Tubulointe... |
OMIM:203800 |
| 1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Scoliosis, Vesicoureteral reflux... |
ORPHA:250989 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... |
OMIM:230000 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... |
OMIM:253200 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Multiple joint contractures, Hypospadias, Short neck, Crypto... |
OMIM:305450 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Chorea, Athetosis, Prolonged prothrombin time, Hyperkinetic movements, Gliosis... |
ORPHA:404454 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis |
ORPHA:261652 |
| Stickler Syndrome, Type I |
|
Kyphosis, Sensorineural hearing impairment, Platyspondyly, Morbus Scheuermann, Scoliosis, Conduct... |
OMIM:108300 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
| 15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Contracture of the proximal interpha... |
ORPHA:314585 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:615273 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Hearing impairment |
ORPHA:324737 |
| Bruck Syndrome |
|
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis |
ORPHA:2771 |
| Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:128100 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Sensorineural hearing impairment, Weight loss, Distal amyotrop... |
OMIM:164310 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:618948 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Horseshoe kidney, Scoliosis, Vesicoureteral reflux, Ventriculomegaly |
ORPHA:238769 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Amelocerebrohypohidrotic Syndrome |
|
EEG abnormality, Hydrocephalus |
ORPHA:1946 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal... |
ORPHA:1908 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Hearing impairment |
ORPHA:65682 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Facial hypotonia, Posteriorly rotated ears, Noncommunicating hydrocephalus, Low-set ears, Macrotia |
OMIM:619320 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Sensorineural hearing impairment, Hydroceph... |
OMIM:620155 |
| Alg1-Cdg |
|
Kyphosis, Renal insufficiency, Nephrotic syndrome, Scoliosis |
ORPHA:79327 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Gliosis, Myoclonic spasms |
OMIM:252150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital e... |
OMIM:615287 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Weight loss |
ORPHA:3165 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Paroxysmal vertigo, Eleva... |
ORPHA:276621 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,... |
ORPHA:582 |
| Microform Holoprosencephaly |
|
Hypoplasia of penis, Holoprosencephaly, Scoliosis, Ambiguous genitalia, EMG: myopathic abnormalities |
ORPHA:280200 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Hydrocephalus, Low-set ea... |
OMIM:612582 |
| Aymé-Gripp Syndrome |
|
Ventriculomegaly, Posteriorly rotated ears, Proteinuria, Congenital diaphragmatic hernia, Cryptor... |
ORPHA:1272 |
| Idiopathic Camptocormia |
|
Myositis, Abnormal intervertebral disk morphology, Fatty replacement of skeletal muscle, Abnormal... |
ORPHA:1320 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy |
OMIM:616437 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Urinary incontinence, Flexion contracture, Interictal epileptiform activ... |
OMIM:300243 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy |
OMIM:612069 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... |
OMIM:277900 |
| Barth Syndrome |
|
3-Methylglutaconic aciduria, Skeletal myopathy, Macrotia, Failure to thrive |
OMIM:302060 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular... |
ORPHA:49041 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Contractures of the large joints |
OMIM:616716 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Hydrocephalus, Flexion contracture, Hypoplastic labia majora, Camptoda... |
OMIM:207410 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Hemivertebrae, Low-set ears, Scoliosis, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Optic disc c... |
OMIM:608091 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Torticollis, Optic nerve hypoplasia, Kyphoscoliosis, Sensorineural hearing im... |
ORPHA:300570 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Abnormal form of the vertebral bodies, Low-s... |
ORPHA:475 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Cryptorchidism, Meningoencepha... |
OMIM:236670 |
| Achondroplasia |
|
Lumbar hyperlordosis, Hydrocephalus, Lumbar kyphosis in infancy, Recurrent otitis media, Spinal s... |
OMIM:100800 |
| Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Male infertility |
OMIM:612444 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy |
OMIM:105400 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Apert Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, Abnormal semicircular canal morphology, Cervical... |
ORPHA:87 |
| Cowden Syndrome 6 |
|
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele, Hearing impairment |
OMIM:615109 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Vertebral compression fracture, Hydrocephalus, Scoliosis |
OMIM:112240 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Polycystic kidney dysplasia... |
OMIM:617866 |
| Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
| Muenke Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus |
ORPHA:53271 |
| Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Meningocele, Optic atrophy, Renal cyst, L... |
OMIM:614424 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Failure to thrive, Ventriculomegaly, Optic nerve hypoplasia, Kyphoscoliosis, ... |
OMIM:602535 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Protruding ear, Macroglossia, Abnormal antihelix morphology, Scoliosis |
ORPHA:261144 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism, Lateral ventricle dilatation, Low-set ears, Dilated third ventricle |
OMIM:619244 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestati... |
ORPHA:464306 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Weight loss, Ar... |
OMIM:619381 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Abnormal autonomic nervous sys... |
ORPHA:330001 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature,... |
ORPHA:2020 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Kyphosis, Sensorineural hearing impairment, Optic atrophy, Hyp... |
ORPHA:521426 |
| Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Failure to thrive, Increased CSF lactate |
OMIM:617339 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Optic atrophy, Ventriculomegaly |
ORPHA:60040 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Enlarged sylvian cistern, Short neck, Macrotia, Prominent antihelix, Fai... |
OMIM:615802 |
| Glycogen Storage Disease Xii |
|
Short neck, Hemoglobinuria, Myopathy, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:611881 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Communicating hydrocephalus, Chronic otitis media, Male infertility |
OMIM:244400 |
| 12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Scoliosis, Failure t... |
ORPHA:94063 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Renal salt wasting, Abnormal urine potassium concentration, Weight loss, Hypernatriuria... |
ORPHA:275761 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Congenital kyphoscoliosis, Posteriorly rotated ears, Ovoid vertebral bo... |
ORPHA:536467 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Hydrocephalus, Low-set ears |
ORPHA:163966 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Abnormal vestibular function, Neurogenic bladder, Dilated fourth ve... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Abnormal vestibular function, Neurogenic bladder, Dilated fourth ve... |
ORPHA:276241 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Hydrocephalus, C1-C2 vertebr... |
OMIM:182212 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly,... |
OMIM:617602 |
| Atypical Rett Syndrome |
|
Kyphosis, Scoliosis, EEG abnormality |
ORPHA:3095 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... |
ORPHA:93360 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy |
OMIM:616719 |
| Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Pelvic kidney, Scoliosis |
OMIM:617244 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Low-set ears, Ventriculomegaly |
ORPHA:1812 |
| Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Congenital diaphra... |
ORPHA:2162 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation |
OMIM:611134 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventriculomegaly, Hypospadias, Uplifted earlobe, Kyphosis, Low-set ears, Scoliosis, Hydronephrosi... |
OMIM:616449 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Irregular menstruation, I... |
ORPHA:264580 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
| Jaberi-Elahi Syndrome |
|
Kyphosis, Optic atrophy, Protruding ear, Low-set ears, Scoliosis, Failure to thrive, Dandy-Walker... |
OMIM:617988 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Myelomeningocele,... |
OMIM:600145 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Cranial nerve compression, Scoliosis, Optic nerve compression, Slender b... |
OMIM:131300 |
| Gracile Bone Dysplasia |
|
Micropenis, Failure to thrive, Hydrocephalus |
OMIM:602361 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint con... |
OMIM:309000 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Vici Syndrome |
|
Failure to thrive, Sensorineural hearing impairment, Myopathy, Low-set ears, Left ventricular hyp... |
OMIM:242840 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, EEG with abnormally slow frequencies, Kyphosis, Elbow flexion contracture, Obesi... |
OMIM:618493 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Communicating hydrocephalus |
ORPHA:1861 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine, Kyphosis, Con... |
OMIM:607015 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Failure to thrive, Posteriorly rotated ears, Facial palsy, Conducti... |
OMIM:300373 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Myopathy |
ORPHA:169090 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
| Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive |
OMIM:231670 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Short neck, Cryptorchidism, Hydr... |
ORPHA:1340 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Failure to thrive, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Scoliosis, Micropenis |
OMIM:619718 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Hydrocephalus, Optic atrophy, Failure to thrive, Lower limb muscle weakness, Vent... |
ORPHA:395 |
| Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Aganglionic megacolon, Hydrocephalus, Scoliosis... |
ORPHA:220493 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemiver... |
ORPHA:958 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis, Hearing impairment |
OMIM:259420 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Posteriorly rotated ears, Elbow contracture, Camptodactyl... |
OMIM:208150 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Sacral dimple, Sensorineural hearing impairment, Knee flexion contractur... |
ORPHA:435638 |
| Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Protruding ear, Scoliosis, Macrotia |
ORPHA:236 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Abnormal pinna morphology, Hypospadias, S... |
OMIM:194190 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Lumbar hyperlordosis, Facial hypo... |
ORPHA:457359 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, A... |
ORPHA:59315 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Freckled genitalia, Low-set ears |
ORPHA:79076 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat... |
ORPHA:14 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Vertigo, Hearing impairment |
ORPHA:276198 |
| Mend Syndrome |
|
Sacral dimple, Crossed fused renal ectopia, Posteriorly rotated ears, Kyphosis, Cryptorchidism, H... |
OMIM:300960 |
| Craniopharyngioma |
|
Papilledema, Hypogonadotropic hypogonadism, Vertigo, Hydrocephalus, Optic atrophy, Obesity, Hypog... |
ORPHA:54595 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Spina bifida occulta |
ORPHA:230839 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Aganglionic megacolon, Hydrocephalus, Hydrocele testis, Microtia, Low-set ears, Ve... |
OMIM:613603 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Failure to thrive, Hypospadias, Congenital diaphragmati... |
ORPHA:2556 |
| Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Heparan sulf... |
ORPHA:581 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Cryptorchidism, EEG abnormality, Extra-axial cerebrospinal fluid accumulation, Scoliosi... |
OMIM:619005 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Sensorineural hearing impairment, Optic atrophy, Abnormal form... |
ORPHA:192 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Kyphosis, Sensorineural hearing impairment, Hypercalciur... |
OMIM:239000 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Scoliosis |
ORPHA:96 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Weight loss, Ovarian cyst, Membranous nephropathy, Ab... |
ORPHA:400 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
| Stormorken Syndrome |
|
Hematuria, Myopathy |
OMIM:185070 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... |
OMIM:620278 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Protruding ear, Scoliosis, Absent earlobe, Hearing impairment |
OMIM:619557 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypospadias, Cervical kyphosis, Kyphoscol... |
OMIM:114290 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorchidism, Hydroc... |
OMIM:227646 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Diastasis recti, Short neck, Cryptorchidism, Sensori... |
ORPHA:488632 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia |
OMIM:243440 |
| Cardiofaciocutaneous Syndrome 1 |
|
Posteriorly rotated ears, Short neck, Hydrocephalus, Optic nerve dysplasia, Anterior creases of e... |
OMIM:115150 |
| Cowden Syndrome 5 |
|
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Hearing impairment |
OMIM:615108 |
| Noonan Syndrome 14 |
|
Scapular winging, Posteriorly rotated ears, Short neck, Kyphosis, Cryptorchidism, Lateral ventric... |
OMIM:619745 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Hydrocephalus |
OMIM:616294 |
| Ruvalcaba Syndrome |
|
Kyphosis, Cryptorchidism, Hematuria, Scoliosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Hearing impairment |
OMIM:614153 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Posteriorly rotated ears, Aqueductal stenosis, Cryptorchidism, Sensorineural h... |
OMIM:619512 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Vertigo, Flexion contracture, Left ventricular noncompaction, Muscular d... |
ORPHA:1344 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Rhabdomyolysis, Skeletal myopathy, Left ventricular hypertrophy, Lo... |
ORPHA:746 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Failure to thrive, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria,... |
OMIM:277400 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
| Solitary Fibrous Tumor |
|
Low back pain, Vaginal neoplasm, Weight loss, Urinary retention, Prostate cancer, Abnormal prosta... |
ORPHA:2126 |
| Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis |
OMIM:300842 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Sensorineural hearing impairment, Failure to thrive, Weight loss |
ORPHA:47 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
| Trisomy 8P |
|
Sacral dimple, Multiple joint contractures, Posteriorly rotated ears, Short neck, Cryptorchidism,... |
ORPHA:264450 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Hydrocephalus, Abnormal earlobe morphology, Large earlobe, Low... |
ORPHA:35107 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Otitis media, Immotile sperm |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 18 |
|
Recurrent otitis media, Male infertility, Immotile sperm |
OMIM:614874 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Posteriorly rotated ears, Hypospadias, Hydrocephalus, Optic atrophy, Hypoplastic l... |
OMIM:123790 |
| Cowden Syndrome 1 |
|
Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Varicocele, Hearing impai... |
OMIM:158350 |
| Carney-Stratakis Syndrome |
|
Weight loss, Tinnitus, Hearing impairment |
ORPHA:97286 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Hydrocephalus, Muscular dystrophy, Ventriculomegaly |
OMIM:616538 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... |
ORPHA:90794 |
| Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of th... |
ORPHA:722 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Facial paralysis, Optic atrophy, Hydrocephalus |
OMIM:259710 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Methylmalonic aciduria |
OMIM:615578 |
| Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Abnormal vestibular function, Neurogenic bladder, Dilated fourth ve... |
ORPHA:276244 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Dilated third ventricle, Sensorineural hearing impairment, Hydrocephalus, Renal tubul... |
OMIM:619575 |
| Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness |
OMIM:608328 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Hearing impairment |
OMIM:166220 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil... |
ORPHA:3260 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodactyly, Flexion contractu... |
ORPHA:88628 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Ventriculomegaly, Posteriorly rotated ears, Hypospadias, Small for gesta... |
OMIM:309590 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Cryptorchidism, Hydrocephalus, Pro... |
ORPHA:235 |
| Meningioma |
|
Back pain, Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Urinary incontinence, Ear pa... |
ORPHA:2495 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Clitoral hypoplasia, Low-set ears, Scoliosis... |
OMIM:616894 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hypospadias, Sensorineural hearing impairment, Ragged-red muscle fibers,... |
ORPHA:17 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Hydrocephalus, Optic atrophy, EEG abnormality, Macrotia, Ventriculomegaly |
OMIM:617281 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
| Williams Syndrome |
|
Hypoplasia of penis, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalcinosis, Ver... |
ORPHA:904 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microtia, Muscular dystro... |
OMIM:614643 |
| Osteogenesis Imperfecta |
|
Osteopenia, Small for gestational age, Recurrent fractures, Fractures of the long bones, Osteoart... |
ORPHA:666 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Small for gestational age, Increased CSF lactate, Patent urachus, Failur... |
OMIM:618252 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bradyphrenia, Parkinsonism, Confusion, Arterial stenosis, Depression, Memory impairment, Dementia... |
ORPHA:136 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:614678 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Platyspondyly, Severe platyspondyly, Short neck |
OMIM:187600 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus,... |
OMIM:239300 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Decreased fertility, Secondary amenorrhea, Ovarian neoplasm, Hypogonadis... |
ORPHA:902 |
| Acute Monoblastic/Monocytic Leukemia |
|
Progressive hearing impairment, Oliguria, Weight loss |
ORPHA:514 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Horner syndrome, Abnormali... |
OMIM:256700 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Protruding ear, Scoliosis, Low-set ears |
OMIM:618443 |
| Glossopharyngeal Neuralgia |
|
Ear pain, Cranial nerve compression, Weight loss, Abnormal glossopharyngeal nerve morphology, Abn... |
ORPHA:221098 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
| Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Hydrocephalus, Ureteral agenesis, Low-set ears, Simple ear |
OMIM:617667 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Holoprosencephaly, Micropenis, Penoscrotal hypospadias,... |
OMIM:270400 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Hydrocephalus, Renal hypoplasia, Anoti... |
OMIM:614083 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
| Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Depression, Gliosis, Emotional lability, Spasticity |
OMIM:124000 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst |
ORPHA:137675 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Short neck, Hydrocephalus, Camptodactyly, Joint contracture of the hand |
OMIM:224400 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Kyphosis, Optic atrophy, Contractures of the large joints, Low-set ears... |
OMIM:617527 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Optic ... |
ORPHA:1454 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidis... |
ORPHA:2166 |
| Aspartylglucosaminuria |
|
Splenomegaly, Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hip contracture, Hydroureter, Posteriorly rotated ears, Unilateral renal agenes... |
OMIM:619194 |
| X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Kyphoscoliosis, Asymmetry of the ears, Ectopic kidney, Kyphos... |
ORPHA:3063 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Camptodactyly of finger, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus,... |
ORPHA:261337 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Low-set ears, Scoliosis |
OMIM:618590 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Posteriorly rotated ears, Hyperlordosis, Large for gestational age, ... |
OMIM:617011 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Narrow internal auditory canal, Short neck, External ear malformation, E... |
ORPHA:233 |
| Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy, Proteinuria, Polycystic ovaries |
ORPHA:79086 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Abnormal pinna morphology, El... |
ORPHA:1900 |
| Raine Syndrome |
|
Mixed hearing impairment, Hydroureter, Posteriorly rotated ears, Abnormal pinna morphology, Short... |
OMIM:259775 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Paroxysmal vertigo, Eleva... |
ORPHA:29072 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Aplasia of th... |
ORPHA:457284 |
| Refsum Disease |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Renal insufficiency |
ORPHA:773 |
| Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytope... |
ORPHA:51 |
| Poliomyelitis |
|
Confusion, Paralysis, Inability to walk, Paraparesis, Irritability, Hyperkinetic movements, Pares... |
ORPHA:2912 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Low-set ears, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:404440 |
| Rhabdoid Tumor |
|
Hematuria, Weight loss |
ORPHA:69077 |
| Medulloblastoma |
|
Back pain, Hydrocephalus, Vertigo, Bilateral sensorineural hearing impairment, Abnormal cranial n... |
ORPHA:616 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus, Optic atrophy, Low-set ears, Hearing impairment |
ORPHA:93400 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, Protruding ear, Abnormal curvature of the vertebral column, Otitis medi... |
OMIM:619475 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Protruding ear, Prominent coccy... |
OMIM:300966 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Low-set ears, Scoliosis, Failure to thrive |
ORPHA:420794 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Abnormal skeletal muscle morphology |
ORPHA:142 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Optic disc pallor, Hypospadias, Optic ne... |
OMIM:252010 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Impotenc... |
OMIM:146500 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Proteinuria, Vaginal neoplasm, Sensorineural hearing impairment, Chronic kidne... |
ORPHA:1018 |
| Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Aganglionic megacolon, Congenital diaphragmatic hernia, Unilateral rena... |
OMIM:154400 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
| Weaver Syndrome |
|
Diastasis recti, Kyphosis, Macrotia, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatati... |
OMIM:277590 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Elbow flexion contracture, Platyspond... |
OMIM:245600 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Flexion contrac... |
ORPHA:365 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss |
ORPHA:324964 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus, Hypospadias, Congenital diaphragmatic hernia |
OMIM:313850 |
| Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary retention, Urinary incontinence, Foot dorsiflexor weakness |
OMIM:616586 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Neurogenic bladder, Short neck, Sensorineural hearing impairment, Low-se... |
OMIM:608779 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryp... |
OMIM:227650 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Horseshoe kidney, Fused cervic... |
ORPHA:1724 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Kyphosis, Scoliosis, Overfolded helix, Macrotia |
OMIM:617061 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Multiple rena... |
ORPHA:955 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Macroglossia, Nephrotic syndrome, Albuminuria, Abn... |
ORPHA:85443 |
| Ramon Syndrome |
|
Optic disc pallor, Enlarged labia minora, Kyphosis, Scoliosis, Decreased body weight, Hearing imp... |
OMIM:266270 |
| Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Scoliosis |
ORPHA:2479 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Kyphosis, Sensorineural hearing impairment, Aplasia/Hypoplasia of t... |
ORPHA:193 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Dural Sinus Malformation |
|
Papilledema, Pulsatile tinnitus, Myelopathy, Ear pain, Hydrocephalus |
ORPHA:97339 |
| Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Hydrocephalus, Flexion contracture, Optic atrophy, Renal hypoplasia, Abdo... |
OMIM:619321 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Skeletal muscle atrophy, Urinary retention, Kyphoscoliosis |
ORPHA:447760 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Kyphosis, Truncal obesity, Secondary amenorrhea |
OMIM:610489 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Kyphosis, Abnormal antihelix morphology, Vertebral segmentatio... |
ORPHA:1005 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Renal insufficiency, CSF pleocytosis, Hydrocephalus, CSF lymphocytic p... |
ORPHA:228123 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, T... |
OMIM:203500 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Sensorineural hearing impairment, Increased muscle lipid content, Abnormality of the calf muscula... |
ORPHA:565612 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Retinal neovascula... |
ORPHA:247691 |
| Infantile Myofibromatosis |
|
Limitation of joint mobility, Bone cyst, Osteolysis |
ORPHA:2591 |
| Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:257200 |
| Adams-Oliver Syndrome |
|
Encephalocele, EEG abnormality, Hydrocephalus, Failure to thrive |
ORPHA:974 |
| Familial Glucocorticoid Deficiency |
|
Renal salt wasting, Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Weight los... |
ORPHA:361 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Vertigo, Metrorrhagia, Weight loss |
ORPHA:520 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Posteriorly rotated ears, Optic nerve hypoplasia, Hydrocephalus,... |
OMIM:605627 |
| Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Congenital diaphragmatic hernia, K... |
ORPHA:280 |
| Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgen... |
ORPHA:284339 |
| Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Facial palsy, CSF pleocytosis, Vertigo, Abnormal cranial nerv... |
ORPHA:297 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Kyphosis, Lateral ventricle dilatation, Male urethral meatus stenosis, Low-set ears,... |
ORPHA:464738 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation |
OMIM:217090 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Rectovaginal fistula |
OMIM:603116 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
| Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, True herma... |
ORPHA:564 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
| Fatal Familial Insomnia |
|
Urinary retention, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:600072 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Tremor, Dysmetria, Coarctation of aorta, Gliosis, Truncal ataxia, Spasticity |
OMIM:220111 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotizin... |
ORPHA:423 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Spasticity, Upper limb spasticity, Gliosis |
OMIM:300868 |
| Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... |
ORPHA:91347 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Abnormality of the uterus, Vesicoureteral reflux, Conductive hearing impairment, Smal... |
ORPHA:567 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Posteriorly rotated ears, Short neck, Hydrocephalus, Anencephaly, Rena... |
OMIM:269860 |
| Icf Syndrome |
|
Communicating hydrocephalus, Macroglossia, Low-set ears |
ORPHA:2268 |
| Pyomyositis |
|
Renal insufficiency, Myositis, Weight loss, Testicular teratoma |
ORPHA:764 |
| Igg4-Related Aortitis |
|
Low back pain, Hydronephrosis, Weight loss |
ORPHA:449400 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemivertebrae, Ve... |
OMIM:109400 |
| Moebius Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Aplasia of the pectoralis m... |
ORPHA:570 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| 15Q14 Microdeletion Syndrome |
|
Low-set ears, Kyphosis, Scoliosis |
ORPHA:261190 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Optic disc coloboma, Vertebral seg... |
ORPHA:251014 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Weight loss, Renal tubular dysfunction, Lower-limb joint contractur... |
ORPHA:99885 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Basal Cell Nevus Syndrome 2 |
|
Vertigo, Hydrocephalus |
OMIM:620343 |
| D-Bifunctional Protein Deficiency |
|
Gliosis |
OMIM:261515 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Abnormal CSF protein concentration, Camptocormia, CSF lymphocytic pleiocytosis |
ORPHA:97349 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Optic disc pallor,... |
ORPHA:90324 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Kyphosis, Camptodactyly, Protruding ear |
OMIM:619123 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Holoprosencephaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadia... |
OMIM:107480 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Vaginal atresia, Chronic otitis m... |
OMIM:101200 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Increased cup-to-disc ratio |
ORPHA:447788 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Kyphosis, Myelomeningocele, Meningoc... |
ORPHA:1393 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Skeletal muscle atrophy |
ORPHA:156 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Sensorineural hearing impairment, Hypospadias |
OMIM:609944 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Posteriorly rotated ears, Premat... |
OMIM:147920 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... |
OMIM:249000 |
| Poland Syndrome |
|
Encephalocele, Hypospadias, Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism... |
ORPHA:2911 |
| Giant Cell Arteritis |
|
Renal insufficiency, Vertigo, Optic atrophy, Weight loss, Hematuria, Conductive hearing impairmen... |
ORPHA:397 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Hearing impairment |
ORPHA:2720 |
| Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Hypertonia, Gait disturbance, Gliosis |
ORPHA:268261 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Rhabdomyosarcoma |
ORPHA:626 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Acute rhabdomyolysis, Sensorineural hearing impairment, Optic atrophy, EMG: myopathic ... |
ORPHA:480864 |
| Isolated Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube de... |
ORPHA:268810 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
| Alveolar Echinococcosis |
|
Low back pain, Vertigo, Renal cyst, Abnormal skeletal muscle morphology, Weight loss, Abnormality... |
ORPHA:284 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial palsy, EEG with burst ... |
ORPHA:79139 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Urinary incontinence, Optic atrophy, Scoliosis, Arth... |
ORPHA:496641 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Anemia, Joint hyperflexibility, Arthritis, Fa... |
ORPHA:534 |
| Mohr Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Scoliosis |
OMIM:252100 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus, Ovarian neoplasm |
ORPHA:65285 |
| Poems Syndrome |
|
Papilledema, Weight loss, Hypogonadism, Erectile dysfunction, Sclerotic vertebral endplates |
ORPHA:2905 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Cupped ear, Low-set ears, Lateral ventricle dilatation |
OMIM:612863 |
| Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Sensorineural hearing impairment, Hydr... |
ORPHA:637 |
| Neurooculorenal Syndrome |
|
Mixed hearing impairment, Unilateral renal agenesis, Aqueductal stenosis, Cryptorchidism, Sensori... |
OMIM:620305 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Neurogenic bladder, Facial myokymia |
ORPHA:513436 |
| Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Mild conductive hearing impairment, Spondylolysis, Scoliosis... |
ORPHA:763 |
| Neurofibromatosis, Type I |
|
Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypsarrhythmia, Renal artery ... |
OMIM:162200 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:818 |
| Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Cryptorchidism, Hydroceph... |
ORPHA:221120 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Hor... |
OMIM:612284 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... |
ORPHA:1501 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... |
OMIM:271700 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Lateral ventricle dilatation, ... |
ORPHA:2388 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Male infertility |
OMIM:614935 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Impaired glucose tolerance, Microcytic anemia, Cardi... |
OMIM:256040 |
| Cryptococcosis |
|
Hydrocephalus, Prostatitis, Limb muscle weakness, Abnormality of the outer ear, Abnormal cranial ... |
ORPHA:1546 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight lo... |
ORPHA:79102 |
| Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Optic atrophy, Abnormal form of... |
ORPHA:1106 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:1507 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypercalciuria |
ORPHA:2239 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Fontaine Progeroid Syndrome |
|
Failure to thrive, Small scrotum, Posteriorly rotated ears, Small for gestational age, Hypoplasia... |
OMIM:612289 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Thickened helices, Conductive hearing impairment, Abnormal external genitalia, Hy... |
OMIM:607872 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... |
ORPHA:3243 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithias... |
ORPHA:97297 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Ketonuria, Hyperglycinuria, Organic aciduria, Failure to thrive |
OMIM:210210 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Mucolipidosis Type Ii |
|
Hip contracture, Diastasis recti, Kyphosis, Sensorineural hearing impairment, Knee flexion contra... |
ORPHA:576 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Low-set ears, Hy... |
ORPHA:101000 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Short neck, Hemivertebrae, Protruding ear, Clitor... |
OMIM:261540 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Atresia of the external auditory canal, Low-set ears |
ORPHA:93259 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Limb hypertonia |
OMIM:619909 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Myelomeningocele, Cupped e... |
OMIM:219000 |
| Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Weight loss |
ORPHA:216866 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external aud... |
ORPHA:2306 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Short neck, Cryptorchidism, Hydrocephalus, Flexion... |
OMIM:210710 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Kyphosis, Macroglo... |
ORPHA:201 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Premature ovarian insufficiency, Vertigo, Weight loss, Failure to thrive |
ORPHA:199299 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Acute Adrenal Insufficiency |
|
Renal insufficiency, Decreased female libido, Orthostatic hypotension, Decreased urinary potassiu... |
ORPHA:95409 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocephalus, Microtia, Micropenis, Hydro... |
ORPHA:163979 |
| Wiedemann-Rautenstrauch Syndrome |
|
Wide penis, Abnormality of the ear, Hypoplastic vertebral bodies, Vesicoureteral reflux, Dilatati... |
ORPHA:3455 |
| Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Kyphosis, Abnormal earlobe morpholog... |
ORPHA:79329 |
| Gabriele-De Vries Syndrome |
|
Tremor, Attention deficit hyperactivity disorder, Gliosis, Waddling gait |
ORPHA:506358 |
| Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux, Skeletal muscle atrophy, Failure to thrive, Scoliosis |
OMIM:615895 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Sensorineural hearing impairment, Aminoaciduria, Communicating hydrocephalus |
OMIM:616084 |
| Nephroblastoma |
|
Hematuria, Weight loss |
ORPHA:654 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Weight loss |
ORPHA:79242 |
| Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity, Ovarian cyst |
OMIM:610475 |
| Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus, Abnormality of the ureter, Aplasia/Hypopl... |
ORPHA:1666 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
| Short Syndrome |
|
Sensorineural hearing impairment, Weight loss |
ORPHA:3163 |
| Thymoma |
|
Prostate neoplasm, Myositis, Glomerulonephritis, Weight loss |
ORPHA:99867 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Vertigo, Chronic kidney disease, Subependymal nod... |
ORPHA:25 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Hyd... |
OMIM:273395 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,... |
ORPHA:139417 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2942 |
| Tetrasomy 9P |
|
Myositis, Sacral dimple, Glue ear, Short neck, Cryptorchidism, Hydrocephalus, Abnormal earlobe mo... |
ORPHA:3310 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis |
OMIM:620358 |
| Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Low-set ears |
OMIM:103050 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Ventriculomegaly, Limb hypertonia |
OMIM:259720 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Posteriorly rotated ears, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th ... |
OMIM:618050 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries |
ORPHA:2969 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Ascending tubular aorta aneurysm, Gliosis |
OMIM:617403 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
| Polymyositis |
|
Weight loss, Abnormal muscle fiber morphology |
ORPHA:732 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
| Diets-Jongmans Syndrome |
|
Gliosis, Attention deficit hyperactivity disorder |
OMIM:618846 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:619607 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Proteinuria, Kyphosis, Chronic kidney disease, Hematuria, ... |
ORPHA:1855 |
| Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:90045 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Failure to thrive |
OMIM:615934 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Prominent antihelix, Holoprosencephaly, Mi... |
OMIM:610829 |
| Wiedemann-Rautenstrauch Syndrome |
|
Posteriorly rotated ears, Hypospadias, Small for gestational age, Short neck, Cryptorchidism, Hyd... |
OMIM:264090 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Acromegaly |
|
Hypogonadotropic hypogonadism, Dysuria, Dysmenorrhea, Kyphosis, Wide penis, Long penis, Spinal ca... |
ORPHA:963 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Cupped ear, Hemivertebrae, Contracture of the proximal interphalangeal join... |
OMIM:618223 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Crossed fused renal ectopia, Septo-optic dysplasia, Hypospadias, Apl... |
OMIM:619841 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Weight loss |
ORPHA:90060 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Hypospadias, Cryptor... |
OMIM:619325 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:200150 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Proteinuria, Pancytopenia, Pericardial effusion, ... |
ORPHA:99827 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... |
OMIM:601701 |
| Addison Disease |
|
Orthostatic hypotension, Primary testicular failure, Premature ovarian insufficiency, Decreased f... |
ORPHA:85138 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Limb Body Wall Complex |
|
Encephalocele, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, ... |
ORPHA:2369 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Mixed hearing impairment, Diastasis recti, Congenital diaphragmatic hernia,... |
OMIM:305600 |
| Otopalatodigital Syndrome, Type Ii |
|
Posteriorly rotated ears, Elbow contracture, Kyphoscoliosis, Short neck, Hypospadias, Cryptorchid... |
OMIM:304120 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Optic atrophy, Methylma... |
ORPHA:79282 |
| Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer... |
ORPHA:51608 |
| Farber Disease |
|
Paraparesis, Spasticity, CNS foam cells, Myoclonus |
ORPHA:333 |
| Neurofibromatosis Type 1 |
|
Precocious puberty, Cryptorchidism, Kyphosis, Hearing abnormality, Hydrocephalus, Scoliosis, Hear... |
ORPHA:636 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Rett Syndrome, Congenital Variant |
|
EEG abnormality, Kyphosis, Scoliosis, Protruding ear |
OMIM:613454 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Kyphosis, Optic atrophy, Enuresis nocturna, Pollakisuria, Lower limb hypert... |
ORPHA:171629 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Failure to thrive, Urinary incontinence, Scoliosis |
ORPHA:476126 |
| Polycythemia Vera |
|
Vertigo, Tinnitus, Weight loss |
ORPHA:729 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Weight loss |
ORPHA:188 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Costello Syndrome |
|
Renal insufficiency, Posteriorly rotated ears, Rhabdomyosarcoma, Short neck, Achilles tendon cont... |
OMIM:218040 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
| Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Kyphosis, Flexion contracture, Hemivertebrae, Optic atrophy,... |
OMIM:617140 |
| Congenital Tufting Enteropathy |
|
Optic disc coloboma, Failure to thrive, Weight loss |
ORPHA:92050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Semilobar Holoprosencephaly |
|
Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Neural tube defect, Scolios... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Neural tube defect, Scolios... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Neural tube defect, Scolios... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Neural tube defect, Scolios... |
ORPHA:93924 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis |
ORPHA:1064 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cryptorc... |
OMIM:163950 |
| Sézary Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3162 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Failure to thrive, Dupuytren contracture |
ORPHA:39812 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Low-set ears |
OMIM:258850 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Microtia |
OMIM:620370 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... |
OMIM:143095 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Optic nerve compression, Hypogonadotropic hypogonadism |
ORPHA:91350 |
| Sturge-Weber Syndrome |
|
Hearing abnormality, Hydrocephalus, Optic atrophy |
ORPHA:3205 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Otosclerosis, Papilledema, Decreas... |
ORPHA:580 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Sacral dimple, Multicystic kidney dyspla... |
ORPHA:709 |
| Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... |
ORPHA:98889 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Cryptorchidism, Macrotia |
ORPHA:536532 |
| Yunis-Varon Syndrome |
|
Hypospadias, Abnormal pinna morphology, Cryptorchidism, Hydrocephalus, Renovascular hypertension,... |
ORPHA:3472 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Myelomeningocele, Hydrocephalus, Ovarian cyst, Polycystic kidney dysplasia, Low-set ... |
OMIM:311200 |
| Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass, Optic atrophy, Urinary incontinence |
OMIM:234200 |
| Craniofacial Microsomia 1 |
|
Ureteropelvic junction obstruction, Occipital encephalocele, Multicystic kidney dysplasia, Block ... |
OMIM:164210 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Hypergonadotr... |
OMIM:259050 |
| Felty Syndrome |
|
Chronic otitis media, Weight loss |
ORPHA:47612 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Hypsarrhythmia, Weight loss, EEG abnormality, 3-Methylglutaric aciduria |
ORPHA:20 |
| Stevens-Johnson Syndrome |
|
Dyspareunia, Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss |
ORPHA:36426 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Weight loss |
ORPHA:97289 |
| Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Acute pancreatitis, Elevated circulating aspartate ami... |
ORPHA:99829 |
| Neurofibromatosis, Familial Spinal |
|
Paraparesis |
OMIM:162210 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Endometrial carcinoma, Hypergonadotropic hypogonadism, Abnormality of th... |
ORPHA:273 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy |
ORPHA:803 |
| Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysuria, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Macrogloss... |
ORPHA:314769 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss |
ORPHA:139402 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Protruding ear, Lumbar kyphosis, Scoliosis, Decreased... |
OMIM:303600 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Hypospadias, Hearing impairment |
ORPHA:85199 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Macrotia, Short neck |
ORPHA:168577 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Granulomatosis With Polyangiitis |
|
Renal insufficiency, Ureteral stenosis, Proteinuria, Sensorineural hearing impairment, Weight los... |
ORPHA:900 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Hydroureter, Abnormal pinna morphology, Posteriorly rotated ears, Congenital diaph... |
OMIM:135900 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Hydrocephalus, Abnormality of the musculature of the limbs |
ORPHA:137667 |
| Igg4-Related Pachymeningitis |
|
Mental deterioration, Paraparesis, Somatic sensory dysfunction, Confusion |
ORPHA:449427 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Roberts-Sc Phocomelia Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Ankle flexion contracture, Short neck, Hypos... |
OMIM:268300 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, S... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, S... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, S... |
ORPHA:99226 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, S... |
ORPHA:881 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Familial Colorectal Cancer Type X |
|
Weight loss, Ovarian neoplasm, Flexion contracture, Uterine neoplasm |
ORPHA:440437 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, Az... |
ORPHA:125 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Weight loss, Nephroti... |
ORPHA:91139 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries, Increased... |
ORPHA:2298 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Optic atrophy, Rectovaginal fistula, Knee flexion contracture |
OMIM:619708 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Lynch Syndrome |
|
Weight loss, Flexion contracture, Ovarian neoplasm |
ORPHA:144 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Decreased body weight, Premature ovarian insufficiency, Failure to thriv... |
ORPHA:79474 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Decreased body weight |
ORPHA:89842 |
| Gaucher Disease Type 1 |
|
Hematuria, Kyphosis, Vertebral compression fracture, Proteinuria |
ORPHA:77259 |
| Baller-Gerold Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Hydrocephalus, Optic ... |
OMIM:218600 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Weight loss, Hydronephrosis |
ORPHA:35687 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:143 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hydrocephalus, Optic atrophy, Hematuria, Multiple renal cysts, Renal angi... |
ORPHA:538 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal pinna morphology, Bifid uterus, Anencephaly, Low-set ears, Severe hydroceph... |
OMIM:236680 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Failure to thrive, Stage 5 chronic kidney disease, Truncal obesity, Amin... |
OMIM:222700 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Paraplegia |
ORPHA:79124 |
| Multiple Myeloma |
|
Weight loss, Nephrotic syndrome, Nephropathy, Vertebral compression fracture, Acute kidney injury |
ORPHA:29073 |
| Gaucher Disease |
|
Proteinuria, Hydrocephalus, Hematuria, Arthrogryposis multiplex congenita, Ventriculomegaly, Hear... |
ORPHA:355 |
| Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Facial palsy, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Sensori... |
OMIM:113620 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Menometrorrhagia, Weight loss |
ORPHA:79430 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Macroorc... |
OMIM:208400 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter |
ORPHA:1571 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Weight loss |
ORPHA:134 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Increased body weight, Secondary amenorrhea, Proximal amyotroph... |
ORPHA:99889 |
| Oculodentodigital Dysplasia |
|
Paraparesis, Spasticity, Ataxia, Tetraparesis |
OMIM:164200 |
| Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Weight loss |
ORPHA:93672 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Decreased fertility, Weight loss, Gonadal calcification, Hematuria, Test... |
ORPHA:60025 |
| Familial Pancreatic Carcinoma |
|
Back pain, Ovarian carcinoma, Weight loss |
ORPHA:1333 |
| Rat-Bite Fever |
|
Back pain, Tendonitis, Weight loss |
ORPHA:31205 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Abnormality of the cervical spine, Weight loss |
ORPHA:85408 |
| Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Low-set ears, Protruding ear |
OMIM:620185 |
| Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
| Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Kyphosis, Cryptorchidism, Low-set ears, Scoliosi... |
OMIM:278250 |
| Malignant Atrophic Papulosis |
|
Vertigo, Weight loss |
ORPHA:679 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Optic atrophy, EEG abnormality, Muscular dystrophy, Ventriculomegaly |
OMIM:253280 |
| Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Immunodeficiency 31C |
|
Skeletal muscle atrophy, Weight loss |
OMIM:614162 |
| Dermatomyositis |
|
Inflammatory myopathy, Weight loss |
ORPHA:221 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Protruding ear, Scoliosis, Hydronephrosis |
ORPHA:363700 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Abnormal vagina morphology |
ORPHA:537 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Optic nerve compression, Otitis media, Hearing impairment |
ORPHA:667 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Failure to thrive, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Cryptor... |
ORPHA:2273 |
| Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Weight loss |
ORPHA:160 |
| Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis, Hearing impairment |
OMIM:119600 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Brucellosis |
|
Small for gestational age, Glomerulonephritis, Abnormality of the peripheral nervous system, Orch... |
ORPHA:1304 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Familial Thrombocytosis |
|
Vertigo, Weight loss |
ORPHA:71493 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Camptodactyly, Scoliosis, Cervical spine instability |
OMIM:609192 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Behçet Disease |
|
Renal insufficiency, Myositis, Orchitis, Vertigo, Weight loss |
ORPHA:117 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Female hypogonadism, Prominent ear helix, Low-fr... |
ORPHA:740 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hyd... |
OMIM:304150 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Abnormality of the per... |
ORPHA:48435 |
| African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Myelo... |
ORPHA:3385 |
| Riddle Syndrome |
|
Weight loss, Otitis media, Enuresis nocturna |
ORPHA:420741 |
| Primary Sclerosing Cholangitis |
|
Renal insufficiency, Generalized amyotrophy, Weight loss |
ORPHA:171 |
| Leprosy |
|
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Testicular mass, Abnormal auto... |
ORPHA:548 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:256810 |
| Granulomatosis With Polyangiitis |
|
Chronic otitis media, Weight loss |
OMIM:608710 |
| Classic Homocystinuria |
|
Kyphosis, Optic atrophy, Scoliosis |
ORPHA:394 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Multiple Endocrine Neoplasia Type 1 |
|
Cranial nerve compression, Hypercalciuria, Nephrolithiasis, Weight loss, Impotence, Decreased mal... |
ORPHA:652 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Weight loss, Tubulointerstitial nephritis, Abnormality of the extraocular muscles, Opti... |
ORPHA:79078 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Q Fever |
|
Hematuria, Weight loss |
ORPHA:781 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Failure to thrive, Aqueductal stenosis, Hydrocephalus, Stage 5 c... |
OMIM:619534 |
| Aicardi-Goutieres Syndrome 7 |
|
Nephrotic syndrome, Weight loss, Limb hypertonia |
OMIM:615846 |
| Alström Syndrome |
|
Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of th... |
ORPHA:64 |
| Sarcoidosis |
|
Renal insufficiency, Facial palsy, Abnormal cerebrospinal fluid morphology, Abnormal reproductive... |
ORPHA:797 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Noncommu... |
ORPHA:805 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Scoliosis, Camptodactyly, Joint contracture of the hand, Spondylolisthesis |
OMIM:610168 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Urinary incontinence, Scoliosis |
OMIM:619482 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss |
ORPHA:100078 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... |
OMIM:609049 |
| Yunis-Varon Syndrome |
|
Hypospadias, Anterior concavity of thoracic vertebrae, Small for gestational age, Failure to thri... |
OMIM:216340 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
| Cystic Fibrosis |
|
Male infertility, Failure to thrive, Hypercalciuria |
OMIM:219700 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, Tubuloi... |
ORPHA:91500 |
| 17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Precocious puberty, Kyphosis, Renovascular hypertension, Abnormality of the ver... |
ORPHA:97685 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Viss Syndrome |
|
Exostosis of the external auditory canal, Failure to thrive, Posteriorly rotated ears, Kyphosis, ... |
OMIM:619472 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Weight loss |
OMIM:301074 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Weight loss |
ORPHA:913 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria, Optic neuropathy, Weight loss |
OMIM:181000 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Ppoma |
|
Weight loss |
ORPHA:97278 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Grfoma |
|
Weight loss |
ORPHA:97261 |
| Vipoma |
|
Weight loss |
ORPHA:97282 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Facial paralysis, Peripapillary atrophy |
OMIM:175780 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
| Nocardiosis |
|
Weight loss |
ORPHA:31204 |
| Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Subcortical dementia, Hemiparesis, Pseudobulbar paralysis, Dementia, Gait disturbance, Memory imp... |
OMIM:125310 |
| Myofibromatosis, Infantile, 2 |
|
|
OMIM:615293 |
