| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Acti... |
OMIM:180800 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... |
ORPHA:208981 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia |
OMIM:165200 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Sudanophilic leukodystrophy, Head titubation, Choreoathetosis, Failure to thrive, ... |
OMIM:312080 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... |
OMIM:162500 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of extrapyramidal motor func... |
OMIM:617672 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... |
OMIM:605285 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... |
ORPHA:401840 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, CNS hypomye... |
ORPHA:280234 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... |
ORPHA:206594 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... |
OMIM:182815 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Axonal loss, Peripheral demyelination, Myoclonus, Gliosis, Apraxia, Spasticity, Ab... |
OMIM:221770 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Decreased number of perip... |
OMIM:604484 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
OMIM:606482 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy, Paraparesis |
ORPHA:231445 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Optic atrophy, Ax... |
OMIM:609260 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... |
OMIM:606483 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Frequent falls |
OMIM:618279 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... |
OMIM:249900 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor, Ataxia, Spasticity, Hemiple... |
OMIM:614561 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity |
OMIM:611105 |
| Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
| Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Peripheral demyelination, Myelitis |
ORPHA:71211 |
| Winchester Syndrome |
|
Corneal opacity, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the... |
OMIM:277950 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Peripheral demyelination, ... |
ORPHA:397946 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Axonal loss, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... |
ORPHA:497764 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, CNS demyelination, Abnormal oligodendroglia morph... |
ORPHA:217260 |
| Mucolipidosis Type Iii |
|
Abnormal aortic valve morphology, Hypoplastic inferior ilia, Reduced bone mineral density, Abnorm... |
ORPHA:577 |
| Krabbe Disease |
|
Progressive spasticity, Optic atrophy, CNS demyelination, Failure to thrive, Peripheral demyelina... |
OMIM:245200 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Frequent falls, Dec... |
OMIM:611228 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Vocal cord... |
ORPHA:101097 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Clonus, Peripheral axonal neuropathy, Optic atrophy, Spastic... |
OMIM:615035 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:607706 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Fasciculations, Degeneration of anterior horn... |
ORPHA:65684 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Decreased number of peripheral myelinated n... |
ORPHA:2386 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormality of the metaphysis, Reduced bone mineral density, Brachydactyly, Corneal opacity, Hip ... |
ORPHA:2370 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
CNS demyelination, Failure to thrive, Peripheral demyelination, Gliosis, Tremor, Ataxia |
OMIM:220111 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... |
ORPHA:2932 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... |
OMIM:601376 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... |
OMIM:608340 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Leukodystrophy, Spasticity |
OMIM:616494 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614496 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Babinski sign, Clonus, Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal ... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Optic atrophy, Peripheral demyelination, Spastic tetraplegia |
OMIM:618237 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Hypernatremia, Failure to thrive, Megacystis, Polyuria |
OMIM:304800 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria |
OMIM:125800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal degeneration, Chorea,... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... |
OMIM:206920 |
| Webb-Dattani Syndrome |
|
Hydronephrosis, Diabetes insipidus, Hypernatremia, Decreased response to growth hormone stimulati... |
OMIM:615926 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Micrognathia, Microphthalmia |
OMIM:221950 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:145900 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... |
ORPHA:35710 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly |
OMIM:613885 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination, Gait ataxia |
OMIM:258650 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis, Failure to thrive |
OMIM:612740 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations, Tremor, A... |
OMIM:607317 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Sensory axonal neuropathy, Tremor |
OMIM:612437 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Babinski sign, Pseudobulbar paralysis, Symmetric peripheral demyelination, Gliosis, Leukodystroph... |
OMIM:169500 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Microphthalmia |
OMIM:615524 |
| Spinocerebellar Ataxia 25 |
|
Babinski sign, Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:608703 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Peripheral axonal... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity |
OMIM:606777 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bladder, Nephr... |
ORPHA:223 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:604563 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... |
ORPHA:529808 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
| Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... |
ORPHA:529799 |
| Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Gliosis, Tetraplegia, Spasticity, Delayed myelination |
OMIM:614959 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Ataxia, Hy... |
ORPHA:71277 |
| Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Decreased number of large peripheral myelinated nerve fibers, Spastic dysarthria, ... |
ORPHA:101111 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination, Ataxia, Hyp... |
OMIM:609033 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
| Adult Krabbe Disease |
|
Clumsiness, Babinski sign, Hoffmann sign, CNS demyelination, Frequent falls, Peripheral demyelina... |
ORPHA:206448 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
| Galloway-Mowat Syndrome 5 |
|
Ataxia, Peripheral demyelination, Spasticity |
OMIM:617731 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, Abnormal lower mo... |
OMIM:105550 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... |
OMIM:607458 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Peripheral axonal neuropathy |
OMIM:613710 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism |
OMIM:600116 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Abnormality of the spinal cord,... |
ORPHA:139578 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, CNS demyelination, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Myoglobinuria, Hypernatremia, Elevated ... |
ORPHA:94093 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failure to thrive, ... |
OMIM:300200 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Hernia, Splenomegaly, Abnormal heart va... |
ORPHA:93476 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:610100 |
| Abetalipoproteinemia |
|
Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Increased... |
OMIM:610600 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... |
ORPHA:3008 |
| Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... |
ORPHA:2741 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Failure to thrive, Renal salt wasting, Cry... |
OMIM:614736 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Knee clonus, Obesity, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, S... |
OMIM:604360 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Type II diabetes mellitus, Bowing of the long bones, Hypoplastic inferior ilia, Art... |
ORPHA:61 |
| Microcephaly-Micromelia Syndrome |
|
Micrognathia, Microphthalmia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodacty... |
OMIM:251230 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination, Small for gestational age |
OMIM:616733 |
| Sialidosis Type 2 |
|
Hepatomegaly, Osteoporosis, Inguinal hernia, Splenomegaly, Corneal opacity, Flexion contracture, ... |
ORPHA:87876 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
ORPHA:90103 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Degenerat... |
OMIM:159950 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... |
OMIM:264350 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... |
OMIM:613090 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
| Hartsfield Syndrome |
|
Hypospadias, Diabetes insipidus, Hypernatremia, Craniosynostosis, Gonadotropin deficiency, Microp... |
OMIM:615465 |
| Metachromatic Leukodystrophy |
|
Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction veloci... |
OMIM:250100 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination, Rigidity, Gliosis, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Failure to thrive, Hypochloremia... |
OMIM:214700 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Hypospadias, Micrope... |
OMIM:618815 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Gliosis, Abnormality of extrapyram... |
ORPHA:275872 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign |
OMIM:614947 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia, Congenital hip dislocation |
OMIM:164180 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia |
OMIM:606183 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... |
OMIM:601559 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Renal sal... |
OMIM:203400 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... |
OMIM:602522 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal potassium wasting, Hyperaldos... |
OMIM:601678 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ventricular septal defect, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypospadias, Radial club hand, Leukopenia, Roc... |
OMIM:617053 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... |
OMIM:601455 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556037 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Central hypothyroidism, Neutropenia, Metaphyseal dysplasia, Iron defi... |
ORPHA:1667 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Abnormal circulating aldos... |
ORPHA:171876 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Progressive trunc... |
OMIM:270550 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Rickets, Failure to thrive, Hypophosphatemia, Corneal opa... |
ORPHA:213 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556030 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis... |
OMIM:615830 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... |
OMIM:177735 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tremor, Ataxi... |
OMIM:612438 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Optic atrophy, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anemia, Aplasia/Hypoplasia of the iris, Abnormality of t... |
ORPHA:290 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
| Central Diabetes Insipidus |
|
Hyponatremia, Diabetes insipidus, Failure to thrive, Weight loss, Nocturia |
ORPHA:178029 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Gliosis, Hypertonia, Spasticity, CNS hypomyelination, Delayed myelination |
OMIM:615095 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Frequent falls, Torticollis, Gliosis, Spasticity, Gait ataxia |
OMIM:618369 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Truncal titubatio... |
OMIM:610532 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Motor conduction block, Decreased number of large peripheral myeli... |
ORPHA:99948 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... |
OMIM:267700 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Leukodystrophy, Rigidity |
OMIM:615010 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... |
ORPHA:91354 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Optic atrophy, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... |
ORPHA:216873 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
ORPHA:1436 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Macrocytic anemia, Generalized bone demineralization, Normocytic ane... |
ORPHA:199299 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral demyelination, Decreased nerve conduction velocity, Spastic tetraplegia, Myelin outfol... |
OMIM:609136 |
| Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Premature ovarian insuffici... |
ORPHA:85138 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Chronic kidney disease, Anemia, Hyperuricemia, Hypom... |
OMIM:613845 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... |
ORPHA:1106 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Glutaric Acidemia I |
|
Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Symmetrical progressive peripheral de... |
OMIM:231670 |
| Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bon... |
ORPHA:549 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... |
ORPHA:189439 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Optic atrophy, Frequent falls, Hand tremor, Abnormality of the sp... |
ORPHA:99947 |
| Huntington Disease |
|
Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia |
OMIM:143100 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... |
OMIM:164500 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Cho... |
OMIM:208920 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypertrophic cardiomyopathy, Decreased circula... |
ORPHA:361 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... |
ORPHA:289548 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Failure to thrive, Anemia, Abnormality of subcutaneous f... |
ORPHA:79325 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
| Eiken Syndrome |
|
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... |
ORPHA:79106 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hepatitis, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency,... |
ORPHA:199296 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... |
OMIM:218000 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:162400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... |
OMIM:607143 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive |
OMIM:143860 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Peripheral axonal neuropathy |
OMIM:616668 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology, Hyponatremia |
ORPHA:3225 |
| Hereditary Coproporphyria |
|
Hyponatremia, Hepatocellular carcinoma, Porphyrinuria, Dark urine, Increased urinary porphobilino... |
ORPHA:79273 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Facial diplegia |
OMIM:616286 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Myoclonic spasms, Opisthotonus, Peripheral demyelination, Gliosis, Spastic tetrapleg... |
OMIM:252160 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Clonus, Optic atrophy, Myoclonic spasms, Rigidity, Gliosis, Hypertonia, Delayed my... |
OMIM:614498 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Axonal loss, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... |
ORPHA:168558 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Irregular myelin loops, Facial palsy |
OMIM:601382 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Ataxia, Delayed CNS myelination, Spasticity |
OMIM:300983 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Hyponatremia, Increased serum testosterone level, Decreased circulating aldosterone... |
ORPHA:90791 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:252320 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hypertonia, P... |
OMIM:261640 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Hurler Syndrome |
|
Hepatomegaly, Coxa valga, Diaphyseal thickening, Short clavicles, Hypoplasia of the femoral head,... |
OMIM:607014 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, Peripheral axonal n... |
OMIM:615490 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity |
ORPHA:1368 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Goiter, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Cystinosis, Nephropathic |
|
Rickets, Splenomegaly, Primary hypothyroidism, Microscopic hematuria, Diabetes mellitus, Polyuria... |
OMIM:219800 |
| Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
| Gracile Bone Dysplasia |
|
Thin ribs, Asplenia, Aniridia, Failure to thrive, Decreased skull ossification, Micropenis, Brach... |
OMIM:602361 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... |
ORPHA:1067 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Abnormal lower m... |
ORPHA:2590 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia |
OMIM:618093 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Failure to thrive, Abnormal CNS myelination, Tremor, Spastic paraplegia |
ORPHA:477673 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Dysmetria, Tremor, Ataxia, Gait ataxia |
OMIM:618387 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
| Spinocerebellar Ataxia 17 |
|
Rigidity, Dysmetria, Chorea, Gliosis, Myoclonus, Bradykinesia, Intention tremor, Ataxia, Apraxia,... |
OMIM:607136 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... |
ORPHA:1505 |
| Mietens Syndrome |
|
Metatarsus adductus, Coxa valga, Elbow ankylosis, Sclerocornea, Avascular necrosis of the capital... |
ORPHA:2557 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Paragangliomas 2 |
|
Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Vagal paraganglioma, Glomus ... |
OMIM:601650 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Metaphyseal widening, Short ribs, Coarse metaphyseal trabecularization, Corneal opacity, Short lo... |
OMIM:618961 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Small hand, Abnormal de... |
ORPHA:2323 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Spastic parapare... |
ORPHA:101077 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
| Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Hypernatremia, Lymphadenopathy, T lymph... |
OMIM:619381 |
| Erythrokeratodermia Variabilis |
|
Tapered finger, Weight loss, Abnormal testis morphology, Corneal opacity, Cataract, Diabetes mell... |
ORPHA:317 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Chondrocalcinosis, Hypokalemia, Nephroc... |
OMIM:241200 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Abnormality of the dorsal column of the spinal... |
ORPHA:137898 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Hyponatremia, Purple urine, Myeloproliferative disorder, Increased uri... |
ORPHA:100924 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Failure to thrive, Anem... |
OMIM:603553 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Adducted thumb, Hernia, Osteopenia, Hip dislocation, Corneal opacity, Uni... |
OMIM:616603 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Autosomal Dominant Cerebellar Ataxia |
|
Long-tract signs, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyram... |
ORPHA:99 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Short Syndrome |
|
Posterior embryotoxon, Hypoplasia of the iris, Weight loss, Lipodystrophy, Abnormal dental enamel... |
ORPHA:3163 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Gabriele-De Vries Syndrome |
|
Tremor, Delayed myelination |
OMIM:617557 |
| Alg12-Cdg |
|
Hypospadias, Decreased serum insulin-like growth factor 1, Proximal placement of thumb, Abnormal ... |
ORPHA:79324 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
| Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, High nonceruloplasmin-bound serum copper, Hypoparathyroidism, Ren... |
OMIM:277900 |
| Machado-Joseph Disease Type 3 |
|
Clumsiness, Babinski sign, Peripheral axonal neuropathy, Vocal cord paralysis, Abnormality of ext... |
ORPHA:276244 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... |
ORPHA:98960 |
| Familial Dysautonomia |
|
Hyponatremia, Corneal erosion, Abnormality of the peritoneum, Heterochromia iridis, Abnormal pupi... |
ORPHA:1764 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
| Whipple Disease |
|
Myocarditis, Hyponatremia, Hepatomegaly, Cachexia, Pericarditis, Mediastinal lymphadenopathy, Ane... |
ORPHA:3452 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Rigidity, Tremor, Ataxia, Hypertonia, Spasticity |
ORPHA:33445 |
| Panhypophysitis |
|
Hyponatremia, Increased circulating prolactin concentration, Hashimoto thyroiditis, Abnormal size... |
ORPHA:95513 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Babinski sign, Optic atrophy, Frequent falls, Dysmetria, Peripheral demyelination, Lower limb spa... |
ORPHA:171629 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Fasciculations, Tongue fasciculations |
ORPHA:276435 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Protrusio acetabuli, Distal tapering of metatarsals, Osteoporosis, Metacarpal os... |
OMIM:259600 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
| Mucopolysaccharidosis Type 4 |
|
Mucopolysacchariduria, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal de... |
ORPHA:582 |
| Adenohypophysitis |
|
Hyponatremia, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased... |
ORPHA:95512 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... |
ORPHA:139471 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia |
OMIM:618426 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Increased urinary disaccharide excretion, Broad tibial met... |
OMIM:271630 |
| Shigellosis |
|
Myocarditis, Hyponatremia, Leukocytosis, Conjunctivitis, Splenic abscess, Failure to thrive in in... |
ORPHA:810 |
| Trisomy 13 |
|
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Postaxial hand polydactyly, Abnorma... |
ORPHA:3378 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Myoclonus, Gliosis, Hypertonia, Spasticity |
OMIM:225753 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Micropenis, Ventricular septal defect, Rocker bottom foot, Arthrogryposis multiplex ... |
OMIM:301056 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Abnormality of extrapyramidal mot... |
ORPHA:320406 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failu... |
ORPHA:427 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... |
OMIM:136120 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Carpenter Syndrome 1 |
|
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... |
OMIM:201000 |
| Slc35A2-Cdg |
|
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:356961 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Hypophosphatemia, Proximal renal tubular acidosis, Abnormal dental enamel morphology... |
ORPHA:534 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
OMIM:617013 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Normocytic anemia, Decreased c... |
ORPHA:95409 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... |
ORPHA:89938 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
| Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Axonal loss, Myoclonic spasms, Opisthotonus, Peripheral demyelination, Gliosis, Spastic tetrapleg... |
OMIM:252150 |
| Tangier Disease |
|
Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy |
OMIM:205400 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
| Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... |
ORPHA:404 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
ORPHA:521406 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... |
ORPHA:251274 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Al-Gazali Syndrome |
|
Hydronephrosis, Sclerocornea, Failure to thrive, Broad distal phalanx of finger, Wrist flexion co... |
OMIM:609465 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
| Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly, Corneal opa... |
ORPHA:79292 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... |
OMIM:183090 |
| Anophthalmia Plus Syndrome |
|
