Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal enzyme/coenzyme activity |
OMIM:125460 |
Lactate Dehydrogenase B Deficiency |
|
Reduced lactate dehydrogenase B level |
OMIM:614128 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Alcohol Sensitivity, Acute |
|
Reduced acetaldehyde dehydrogenase level |
OMIM:610251 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Acatalasemia |
|
Reduced catalase level |
OMIM:614097 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Arthritis, Abnormal... |
ORPHA:564003 |
Medial Condensing Osteitis Of The Clavicle |
|
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... |
ORPHA:57196 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology, Abnormal cortical bone ... |
ORPHA:970 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly |
OMIM:264010 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... |
OMIM:277950 |
Hyaline Fibromatosis Syndrome |
|
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia |
OMIM:228600 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis |
OMIM:256720 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... |
ORPHA:3416 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Dementia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leuko... |
OMIM:615889 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Neurodegeneration, Peripheral ... |
OMIM:617672 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... |
ORPHA:497764 |
Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dementia, Cerebellar atrophy, Dystonia, Progressive external opht... |
OMIM:208920 |
Sclerosteosis |
|
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... |
ORPHA:3152 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Ollier Disease |
|
Anemia, Platyspondyly, Abnormality of the metaphysis, Osteolysis, Abnormal cartilage morphology, ... |
ORPHA:296 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... |
ORPHA:53697 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... |
ORPHA:101097 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis |
OMIM:235550 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Cognitive impairment, ... |
OMIM:615157 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ... |
ORPHA:100024 |
Adult Krabbe Disease |
|
Clumsiness, Peripheral demyelination, Progressive neurologic deterioration, Hemiplegia, Lower lim... |
ORPHA:206448 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Corpus callosum atrophy, Abnormal sperm head morphology, Cerebral atro... |
ORPHA:320391 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... |
OMIM:611252 |
Dermatoosteolysis, Kirghizian Type |
|
Joint contracture of the hand, Split hand, Flexion contracture, Scoliosis, Osteolysis |
OMIM:221810 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Short s... |
OMIM:604168 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility |
ORPHA:2787 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... |
ORPHA:79106 |
Familial Infantile Bilateral Striatal Necrosis |
|
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... |
ORPHA:225154 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Diffuse white matter abnormalities, Megalencephaly, Diffuse swelling of cereb... |
OMIM:613925 |
Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Progressive flexion contractures, Abnormal diaphysis morphology, Osteolysis |
ORPHA:2028 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Spastic ataxia, Progressive spas... |
ORPHA:496756 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Proximal muscle weakness, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Short ... |
OMIM:619090 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebral atrophy, Lower limb muscle weakness, Dementia, Infertility, Knee clonus, Kyphosis, Urina... |
OMIM:614409 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Symmetric peripheral demyelination, Peripheral demyeli... |
ORPHA:206594 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, C... |
OMIM:616192 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis... |
ORPHA:282166 |
Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Dementia, Recurrent aspiration pneumonia, Neuronal loss in central nervous system,... |
ORPHA:204 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Gordon Holmes Syndrome |
|
Dementia, Cerebellar atrophy, Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia,... |
OMIM:212840 |
Metatropic Dysplasia |
|
Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Abnormality of the meta... |
ORPHA:2635 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Reduced glutathione synthetase level, Glyoxalase deficiency |
OMIM:231900 |
Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Urinary urgency, Impaired distal tactile sensation, Decreased number of large peri... |
ORPHA:101111 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Cerebellar atrophy, Urinary urgency, Impaired pain sensation, Ataxia, Abolished vi... |
OMIM:608703 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormal bone str... |
ORPHA:93160 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... |
ORPHA:73 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Osteolysis |
ORPHA:2776 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Distal muscle weakness, Gait ataxia, Difficulty walking, Somatic sens... |
ORPHA:423296 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Osteop... |
OMIM:614727 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... |
ORPHA:171622 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... |
OMIM:609260 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness, Peripheral axonal neuropathy... |
ORPHA:99953 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Frontal ... |
OMIM:221770 |
Marinesco-Sjogren Syndrome |
|
Short stature, Progressive muscle weakness, Kyphosis, Ataxia, Spasticity, Hypergonadotropic hypog... |
OMIM:248800 |
RosaĂ¯-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Osteolysis |
ORPHA:158014 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610947 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Osteoporosis, Scoliosis, Joint laxity |
OMIM:616033 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cognitive impairment, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Diff... |
ORPHA:363432 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Osteoporosis, Contractures of the large joints |
OMIM:608278 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Peutz-Jeghers Syndrome |
|
Cervix cancer, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rec... |
ORPHA:2869 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Abnormality ... |
OMIM:615982 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Broad eyebrow, Narrow palpebral fissure, Cerebellar atrophy, Wide nasal bridge, Periventricular l... |
OMIM:618302 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Periventricular white matter hy... |
OMIM:618468 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Dementia, Cerebellar atrophy, Peripheral axonal neuropathy, Urinary ... |
OMIM:617225 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, External ophthalmoplegia, Cognitive impairment, Hypogonadism, ... |
OMIM:615768 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Dementia, Proximal muscle weakness, Progressive external ophthalmoplegia, Ptosi... |
OMIM:609286 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Stereotypy, Trem... |
OMIM:617862 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, P... |
OMIM:275400 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Wide nasal bridge, Hyperactivity, Muscle weakness, Delayed CNS myelination, C... |
OMIM:609924 |
Spastic Ataxia 9, Autosomal Recessive |
|
Babinski sign, Growth delay, Frequent falls, Cerebellar vermis atrophy, Ataxia, Spasticity, Abnor... |
OMIM:618438 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Abnormality of epiphysis morphology, Abnormal sacroiliac joint mor... |
ORPHA:324964 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Kyph... |
OMIM:180800 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Parietal cortical atrophy, Abnormal cerebellar peduncle morphology, Abnormal pyramidal sign, Demy... |
ORPHA:98 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Leukodystrophy, Tremor, Ataxia, Spasticity, Hypoplasia of the corpus callosum |
OMIM:616494 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:615957 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormality of limb bone morphology, Abnormal cortical bone morph... |
ORPHA:2204 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Hypertroph... |
OMIM:118200 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness, Proximal muscle weakness in ... |
ORPHA:98856 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Atrophy/Degeneration affecting the brainstem, Peripheral demyelination, Corpus callosum atrophy, ... |
ORPHA:171629 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Scoliosis, Kyphosis |
OMIM:618234 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Cerebellar vermis atrophy, Distal sensory impairment, Ataxia, Limb ataxia, Gait... |
OMIM:617018 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increased bone mineral ... |
OMIM:136300 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... |
OMIM:208230 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebral white ma... |
ORPHA:468661 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... |
ORPHA:100070 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Cerebellar atrophy, Lower limb spasticity, Iron ... |
OMIM:619389 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Cerebral atrophy, Motor deterioration, Dementia, Dysmetria, Brain atrophy, Poor fine ... |
ORPHA:79263 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, ... |
OMIM:618387 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Upper limb hypertonia, Spastic ataxia, Lower limb muscle weakness, Urinary bladder sphincter dysf... |
OMIM:607259 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Proximal muscle weakness, Peripheral axonal neuropathy, Optic disc pallor, Respira... |
OMIM:617087 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Spastic tetraplegia, Ataxia, Spa... |
OMIM:617207 |
Osteosarcoma |
|
Abnormality of the metaphysis, Pathologic fracture, Abnormality of the femoral metaphysis, Abnorm... |
ORPHA:668 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Autosomal Spastic Paraplegia Type 58 |
|
Short stature, Torticollis, Peripheral demyelination, Spastic ataxia, Fasciculations, Cerebral at... |
ORPHA:397946 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Growth delay, Ataxia, Spasticity, Limb ataxia, ... |
OMIM:614322 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Short stature, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferi... |
OMIM:610185 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... |
ORPHA:1310 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Hypertroph... |
OMIM:118220 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Spastic ataxia, Cerebral atrophy, Loss of ambulation, Hypertonia, Slurred speech, Poo... |
ORPHA:137898 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Abnormality of epiphysis morphology, Short metatarsal, Osteoporosis, Plat... |
ORPHA:93351 |
Nescav Syndrome |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar vermis... |
OMIM:614255 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Kyphosis |
ORPHA:2786 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Dementia, Cerebellar atrophy, Parkinsonism, Tremor by anatomic... |
ORPHA:98762 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormal shoulder morphology, Limitation of joint mobility, Joint ... |
ORPHA:66627 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Ptosis, Dysmetria, Kyphosis, Ataxia, Spasticity... |
OMIM:610743 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... |
OMIM:600795 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Hypoplasia of the corpus cal... |
OMIM:611726 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Clumsiness, Dementia, Cognitive impairment, Muscle weakness, Hypertonia, Slurred speech, Tip-toe ... |
ORPHA:2386 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Sparse eyelashes, Depressed nasal bridge, Choreoathe... |
OMIM:617988 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Vertebral wedging, Increased susceptibility to fractu... |
OMIM:259450 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Cerebellar atrophy, Peri... |
OMIM:615663 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Short long bo... |
OMIM:271530 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Urinary urgency, Dysmetria, Cognitive impairment, Leukoencephalopat... |
OMIM:611390 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... |
ORPHA:166277 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Kyphosis, Joint hypermobility, Abnormal digit morphology, Hype... |
OMIM:300831 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Atrophy/Degeneration affecting the brainstem, Abnormal periventricular white matter morphology, E... |
OMIM:612319 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Steppag... |
OMIM:615035 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Axonal loss, Cerebellar atrophy, Tongue fasciculations, Ptosis, Dysmetria, Tremor,... |
OMIM:618170 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Mental deterioration, Optic atrophy, Cerebellar atrophy, Ataxia |
OMIM:614706 |
Microlissencephaly |
|
Cerebellar atrophy, Pneumonia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Mi... |
ORPHA:1083 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Poor head control, Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Polymicrogyria, Sp... |
OMIM:618973 |
Gm1 Gangliosidosis |
|
Short stature, Abnormal form of the vertebral bodies, Encephalomalacia, Splenomegaly, Hepatosplen... |
ORPHA:354 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Proximal muscle weakness, Steppage gait, Axonal degeneration, Distal sensory im... |
OMIM:616155 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Dysplastic corpus callosum, Ataxia, Inability to walk, Tetraparesis... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Limb muscle w... |
OMIM:608340 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... |
ORPHA:280234 |
Spinocerebellar Ataxia 17 |
|
Dementia, Dysmetria, Neuronal loss in central nervous system, Bradykinesia, Intention tremor, Uri... |
OMIM:607136 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Spastic tetraparesis, Brain atrophy, Scoliosis, Microcephaly |
OMIM:618741 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Abnormality of epiphysis morphology, Metacarpal osteolysis, Slender long bone, Limitation of join... |
ORPHA:2774 |
Myopathy And Diabetes Mellitus |
|
Babinski sign, Dementia, Peripheral axonal neuropathy, Pelvic girdle muscle weakness, Frequent fa... |
ORPHA:2596 |
Shashi-Pena Syndrome |
|
Osteoporosis, Scoliosis, Kyphosis |
OMIM:617190 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Fatiguable weakness of proximal limb muscles, Motor conduction block, Paresthesia, Spontaneous pa... |
ORPHA:2932 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Proximal muscle weakness, Hand tremor, Gliosis, Axonal degeneration, Fasciculat... |
OMIM:604484 |
Spinocerebellar Ataxia Type 5 |
|
Slurred speech, Gait disturbance, Cerebellar atrophy, Incoordination |
ORPHA:98766 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Dandy-Walker malformation, Highly arched eyebrow, Cerebellar atrophy, Depressed nasal bridge, Gro... |
ORPHA:438178 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:145900 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Postural tremor, Dementia, Dystonia, Kinetic tremor, Cerebral white m... |
ORPHA:98756 |
Leukodystrophy, Hypomyelinating, 17 |
|
Cerebellar atrophy, Short stature, Kyphoscoliosis, Leukodystrophy, Low hanging columella, Inabili... |
OMIM:618006 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the metaphysis, Abnormal diaphysis morphology, Osteoarthritis, ... |
ORPHA:1657 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... |
OMIM:606483 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, CNS demyelination, Dysmetria, Neuronal loss in central nervous... |
OMIM:610245 |
Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Camptodactyly of finger, Joint stiffness, C... |
ORPHA:137834 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Abnormality of the orbital region, Dysmetria, Torticollis, Int... |
OMIM:613908 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Proximal muscle weakness, Cerebellar atrophy, Paresthesia, External ophthalmoplegi... |
ORPHA:254886 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... |
OMIM:618495 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Chondroectodermal Dysplasia With Night Blindness |
|
Metaphyseal dysplasia, Fractures of the long bones, Osteoporosis, Metaphyseal irregularity, Platy... |
ORPHA:319195 |
Osteopenia And Sparse Hair |
|
Joint laxity, Osteopenia |
OMIM:259690 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Mental de... |
OMIM:618369 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Short stature, Dysmetria, Progressive gait ataxia,... |
ORPHA:284332 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Astrocytosis, Ste... |
ORPHA:275864 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Involuntary movements, Dystonia, Cerebellar atrophy, High palate, Chorea, Epicanthus, Microcephal... |
OMIM:617804 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Proximal muscle weakness, Axonal... |
OMIM:605588 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Gowers sign, Proximal muscle weakness in lower limbs, Neck flexor weakness, Axonal degeneration, ... |
OMIM:618138 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617133 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... |
OMIM:249900 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... |
ORPHA:1175 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Ataxia, Progressive microcephaly, Hyperactivity, Hy... |
OMIM:613402 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... |
ORPHA:70482 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:117210 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy, Mental deterioration |
OMIM:610951 |
Spastic Paraplegia Type 7 |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Optic disc pallor, Urinary urgency, Memory impa... |
ORPHA:99013 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... |
OMIM:606482 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Osteoporosis, Platyspondyly |
ORPHA:71267 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Cranio-Osteoarthropathy |
|
Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Clubbing of to... |
ORPHA:1525 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Increased... |
ORPHA:93284 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Finger clinodactyly, Osteoporosis |
ORPHA:2958 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Prieto X-Linked Mental Retardation Syndrome |
|
Radial deviation of finger, Coxa valga, Osteoporosis, Clinodactyly |
OMIM:309610 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Osteoporosis, Epiphyseal dysplasia, Joint laxity |
OMIM:248010 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscoliosis, Osteoporosis, Arthrogry... |
OMIM:214150 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal lower limb muscle weaknes... |
OMIM:609311 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Irregular vertebral endplates, Osteoporosis, Platyspondyly, Kyphosis, Scol... |
OMIM:234250 |
Cach Syndrome |
|
Secondary amenorrhea, Atrophy/Degeneration affecting the brainstem, Progressive neurologic deteri... |
ORPHA:135 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... |
ORPHA:276193 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degenerat... |
OMIM:618404 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia, Sens... |
OMIM:607458 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Increased susceptibility to fractures, Abnorm... |
ORPHA:52430 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology, Hyponatremia |
ORPHA:3225 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Urinary bladder sphincter dysfun... |
OMIM:610357 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia,... |
OMIM:300423 |
Osteogenesis Imperfecta, Type Xii |
|
Osteoporosis, Scoliosis, Generalized osteoporosis |
OMIM:613849 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... |
OMIM:258650 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Gait disturbance, Cerebellar atrophy, Cleft palate, Progressive neurologic deterioration, Kyphosi... |
ORPHA:85317 |
Odontochondrodysplasia 1 |
|
Flat acetabular roof, Irregular epiphyses, Genu varum, Small epiphyses, Coronal cleft vertebrae, ... |
OMIM:184260 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Amyotrophic later... |
OMIM:602433 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Peripheral demyelination, Glomerular sclerosis, Stage 5 chronic kidney diseas... |
OMIM:617731 |
Familial Hyperprolactinemia |
|
Osteoporosis, Osteopenia |
ORPHA:397685 |
4H Leukodystrophy |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Short stature, Cerebral hypomyelination, Dysmetria, ... |
ORPHA:289494 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, D... |
OMIM:604563 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Spastic tetraplegia, Pachygy... |
OMIM:618730 |
Maffucci Syndrome |
|
Recurrent fractures, Multiple enchondromatosis, Scoliosis, Osteolysis |
ORPHA:163634 |
Hypermanganesemia With Dystonia 2 |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Prog... |
OMIM:270550 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Retinal degeneration |
OMIM:251700 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Motor axonal neuropathy, Generalized muscle weakness, Atrophy of the spinal cord, Fasciculations,... |
ORPHA:466768 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Distal sensory impairment, Axonal regeneration, Decreased number of peripheral mye... |
OMIM:607731 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Rigidity, Neuronal loss in ce... |
OMIM:610127 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, Cerebral a... |
OMIM:600143 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Bilateral ptosis, Tremor, Inability to walk, Diffuse... |
ORPHA:330050 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosi... |
OMIM:616505 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Mental deterioration |
OMIM:616187 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Progressive psychomotor deterioration, Cerebellar atrophy, Short stature, Poor motor coordination... |
ORPHA:1170 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Dementia, Cerebellar atrophy, Hepatomega... |
OMIM:203700 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Intrauterine growth retardation, Growth delay, Severe demyelination of the wh... |
ORPHA:488635 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... |
ORPHA:208981 |
Spinocerebellar Ataxia 12 |
|
Dementia, Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadoc... |
OMIM:604326 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia |
OMIM:611694 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Slender long bone, Limi... |
ORPHA:1486 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Urinary urgency, Ur... |
OMIM:604360 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Cleft palate, Depressed nasal bridge, Short stature, Ptosis, Upsl... |
OMIM:162100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Decreased number of p... |
OMIM:607677 |
Filippi Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Intrauterine growth retardation, Underdeveloped nasa... |
OMIM:272440 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... |
ORPHA:2097 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... |
OMIM:144750 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Gait disturbance, Distal sensory impairment, Decreased phosp... |
OMIM:311070 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar cyst, Cerebellar atrophy, Frequent falls, Facial diplegia, Kyphoscoliosis, Generalized... |
ORPHA:370980 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract |
OMIM:615995 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Amenorrhea, Ataxia, Premature ov... |
OMIM:619425 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615993 |
Autosomal Recessive Ataxia, Beauce Type |
|
Clumsiness, Atrophy/Degeneration affecting the brainstem, Fasciculations, Chronic axonal neuropat... |
ORPHA:88644 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Babinski sign, Symmetric peripheral demyelination, Pseudobulbar paralysis, Gliosis, Progressive n... |
OMIM:169500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Increased susceptibility to fractures, Bowing of the long bones, Ver... |
OMIM:602080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Mucopolysacchariduria, Cerebellar atrophy, CNS demyelination, Short stature, Hypopl... |
OMIM:272200 |
Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Osteoporosis, Platyspondyly, Dislocated radial head, Arachnodactyly, Joint hyperm... |
OMIM:614856 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Proximal muscle weakness, Clonus, Lacticaciduria, Falls, Axonal degeneration, Tongue fasciculatio... |
OMIM:618811 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Ptosis, Ophthalmoparesis, Hypertonia, Spasticity, Pa... |
OMIM:610246 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Short stature, Upslanted palpebral fissure, Prominent nasal bridge, K... |
OMIM:618443 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Pontocerebellar Hypoplasia, Type 2D |
|
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Progressive microcephaly, Cerebral atrop... |
OMIM:613811 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma |
ORPHA:99976 |
Arts Syndrome |
|
Optic atrophy, Growth delay, Progressive muscle weakness, Recurrent infections, Spinal cord poste... |
OMIM:301835 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Impaired proprioception, Corpus callosum atrophy, Ophthalmoplegia, Cerebellar hypoplasia, Parieta... |
ORPHA:412057 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... |
OMIM:616981 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Cerebral edema, Abnormality of the basal ganglia, Abnormal pyramidal sign, Abnorm... |
ORPHA:83597 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal muscle weakness, Cerebellar cyst, Cerebellar atrophy, Vertebral fusion, Frequent falls, ... |
OMIM:606612 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Osteoporosis, Ky... |
ORPHA:3409 |
Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Kyphoscoliosis, Splenomegaly, Calvarial hyperostosis, ... |
OMIM:176920 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Cerebellar atrophy, Cleft palate, Dysmetria, Myoclonus, Decreased nerve conduction... |
OMIM:618356 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Slurred speech, Optic atrophy, Cerebellar atrophy, Gait ataxia |
OMIM:619323 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Reduced bone mineral densit... |
ORPHA:2370 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy |
OMIM:268010 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Abnormality of the metaphysis, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Short metatarsal, Short 1st metacarpal, Flat acetabular r... |
OMIM:251450 |
Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Dystonia, Diffuse cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal mot... |
ORPHA:352596 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Diffuse demyelination of the cerebral white matter, Abnormal astrocyte morpho... |
ORPHA:168486 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger clinodactyly,... |
OMIM:615923 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Cerebellar atrophy, Growth delay, Spasticity, Cerebral atrophy, Microcephaly |
OMIM:617899 |
Oculopharyngodistal Myopathy |
|
Progressive ptosis, High, narrow palate, High palate, Recurrent aspiration pneumonia, Fatigable w... |
ORPHA:98897 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Osteoporosis, Reduced bone mineral density |
ORPHA:2410 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Short stature, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygy... |
OMIM:224050 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:600081 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle ... |
OMIM:617435 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Short stature, Dysmetria, ... |
OMIM:275900 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Short stature, Neurodegeneration, Progressive muscle weakness, Conjunctival t... |
OMIM:615919 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... |
ORPHA:90301 |
Desminopathy |
|
Thoracic kyphoscoliosis, Fatigable weakness of bulbar muscles, Neck flexor weakness, Progressive ... |
ORPHA:98909 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Bruck Syndrome |
|
Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, Platyspondyly, Kyphos... |
ORPHA:2771 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Neuronal loss in basal ganglia, Cerebellar atrophy, Rigidity, Chorea, Myoclon... |
ORPHA:248111 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Cerebral white matter hypoplasia, Short stature, Wide nasal bridge, Downslanted palpebral fissure... |
ORPHA:3207 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Cerebellar atrophy, Urinary urgency, Knee clonus, Urinary bladder sphinc... |
OMIM:607565 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Axonal loss, Peripheral demyelination, Kyphoscoliosis, Ataxia, Difficulty walking |
OMIM:616684 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration |
OMIM:153700 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, High palate, Short stature, Cognitive impairment, Increased circulating gonad... |
OMIM:233400 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Progressive external ophthalmoplegia, Bilateral ptosis, Respiratory insufficiency due to muscle w... |
ORPHA:254875 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy,... |
OMIM:610003 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Gait disturbance, Babinski sign, High palate, Upper limb spasticity, Lower limb spasticity, Kypho... |
OMIM:611225 |
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Moderate generalized osteoporosis, Biconcave flattened vertebrae |
OMIM:166230 |
Mycetoma |
|
Bone cyst, Abnormality of forearm bone, Osteoporosis, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2583 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Platyspondyly, Osteopenia, Femoral bowing, Recurrent fractures, Scoliosis |
OMIM:126550 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Gait disturbance, Limb muscle weakness, Decreased nerve conduction velocity... |
OMIM:615284 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Peripheral axonal neuropathy, High palate, Ptosis, Facial diplegia, Neonatal death, Res... |
OMIM:611890 |
Juvenile Paget Disease |
|
Bowing of the long bones, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cran... |
ORPHA:2801 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... |
ORPHA:75508 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia |
OMIM:618876 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progress... |
OMIM:607346 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Nephrotic syndrome, Progressive muscle weakness, Glomerular sclerosis, Ataxia... |
OMIM:607426 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment, Steppage gait |
OMIM:616039 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Reduced bone mineral density, Genu va... |
OMIM:265900 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 5th metacarpal, Platyspondyly, Thoracic kyphosis, Femoral bowing, Broad t... |
OMIM:619638 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Highly arched eyebrow, CNS demyelination, Peripheral demyelinat... |
OMIM:220111 |
Charcot-Marie-Tooth Disease Type 4A |
|
Spinal deformities, Quadriceps muscle weakness, Chronic axonal neuropathy, Demyelinating peripher... |
ORPHA:99948 |
Lichtenstein Syndrome |
|
Neutropenia, Decreased circulating IgA level, Ulnar deviation of finger, Increased susceptibility... |
OMIM:246550 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Short stature, Dysme... |
OMIM:607694 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Short stature, Lower limb spasticity, Kyphosis, Ataxia, Inability to walk, Waddling gai... |
OMIM:616756 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Cleft palate, Recurrent infections, Postnatal growth retardation, Cerebral atrophy, ... |
OMIM:611209 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Smooth philtrum, High palate, Broad nasal tip, Macular degeneration, Thin upper lip vermilion, De... |
OMIM:612948 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Leukodystrophy, Ataxia, Sc... |
ORPHA:527497 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Progressive external ophthalmoplegia, Impaired distal p... |
OMIM:157640 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ata... |
OMIM:616291 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Osteopenia, Wide anter... |
ORPHA:85184 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Short stature, Ptosis, Dilated fourth ventricle, Dysmetria, Inferior vermis h... |
OMIM:614831 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Depressed nasal bridge, Short stature, Short nose, Wide nasal bridge, Cerebra... |
OMIM:616430 |
Cerebrotendinous Xanthomatosis |
|
Progressive psychomotor deterioration, Global brain atrophy, Axonal degeneration, Paraparesis, Pr... |
ORPHA:909 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteolysis involving bones of the lower limbs, Increased susceptibility to fra... |
ORPHA:371428 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, G... |
OMIM:608029 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Steppage gait, Peripheral demyelination, Distal sensory impairm... |
OMIM:607736 |
Peho-Like Syndrome |
|
Optic atrophy, Cerebellar atrophy, Short nose, Epicanthus, Myoclonus, Pachygyria, Progressive mic... |
OMIM:617507 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... |
ORPHA:85435 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Cerebral edema, Abnormality of thalamus morphology, Di... |
ORPHA:79139 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Babinski sign, Cerebellar atrophy, High palate, Short stature, Spastic dysarthria, Ster... |
ORPHA:280763 |
Krabbe Disease |
|
Progressive spasticity, Optic atrophy, CNS demyelination, Neurodegeneration, Peripheral demyelina... |
OMIM:245200 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Dementia, Ophthalmoparesis, Astrocytosis, Ophthalmoplegia, Cerebral atrophy, Degeneration of ante... |
OMIM:600333 |
Scholte Syndrome |
|
Cerebellar atrophy, Broad nasal tip, Upslanted palpebral fissure, Kyphoscoliosis, Epicanthus, Bif... |
OMIM:300977 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Impaired distal proprioception, Recurrent acute respiratory tract i... |
ORPHA:231445 |
Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the legs, Osteoporosis, Platyspondyly, Joint hypermobility, Coxa vara, Coxa valga, Recu... |
OMIM:619131 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to wa... |
OMIM:618090 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Cockayne Syndrome Type 3 |
|
Progressive neurologic deterioration, Splenomegaly, Unilateral renal agenesis, Basal ganglia calc... |
ORPHA:90324 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Osteoporosis, Elev... |
ORPHA:79230 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Osteoporosis, Vertebral compression fracture, Kyphosis |
ORPHA:85193 |
Pontocerebellar Hypoplasia, Type 3 |
|
Optic atrophy, High, narrow palate, Cerebellar atrophy, High palate, Depressed nasal bridge, Shor... |
OMIM:608027 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Abnormality of the ulna, Thin bony cortex, Abnormality of femur morphology, Fibrou... |
ORPHA:249 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Short stature, Dysmetria, Gait ataxia, Short neck, Cerebral atrophy, Recurren... |
ORPHA:320385 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Impaired proprioception, Cerebellar atrophy, Gait imbalance, Gait... |
ORPHA:98755 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral d... |
OMIM:609033 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... |
OMIM:612852 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Neuronal loss in central nervous system, Peripheral demyelination, Optic neuritis, Fu... |
ORPHA:71211 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... |
ORPHA:98850 |
Behr Syndrome |
|
Progressive spasticity, Optic atrophy, Gait disturbance, Cerebellar atrophy, Babinski sign, Dysme... |
OMIM:210000 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Dystonia, Dementia, Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Progressive ... |
ORPHA:513436 |
Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Beaking of vertebral bodies, Abnormality of epiphysis morphology, Ost... |
ORPHA:2078 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Cognitive impairment, Tremor, Oculomot... |
OMIM:617145 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Optic atrophy, Cl |