Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Seizure, Distal amyotrophy, Cognitive... |
ORPHA:100985 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, EEG with generalized polyspikes, Seizu... |
OMIM:614706 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epilepti... |
OMIM:616187 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... |
OMIM:600143 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Atrophy... |
OMIM:616230 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Confusion, Ataxia, ... |
OMIM:615362 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of ante... |
OMIM:604484 |
Adult Neuronal Ceroid Lipofuscinosis |
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Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Seizur... |
ORPHA:79262 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm... |
OMIM:162350 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Atax... |
OMIM:607250 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Slur... |
ORPHA:972 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclon... |
OMIM:615924 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:614018 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... |
OMIM:618876 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration... |
ORPHA:171612 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr... |
OMIM:619733 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Cerebral atrophy, EEG abnormality, Neu... |
OMIM:610951 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia,... |
OMIM:125370 |
Myopathy, Centronuclear, 4 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Seizure, Abnormal circulating c... |
OMIM:614807 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Myopathy, Seizure, Myoclonus, General... |
OMIM:545000 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... |
OMIM:254800 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Impaired proprioception, ... |
OMIM:277460 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... |
OMIM:618387 |
Cln5 Disease |
|
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Abnormal central motor funct... |
ORPHA:228360 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Elevated circulating creatine kinase concentration, Generalized amyotrophy, Loss of am... |
OMIM:167320 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... |
OMIM:204500 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Short attention span, Lower limb spasticity, Bilateral tonic-clonic seizure w... |
OMIM:619028 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Generalized clonic seizure... |
OMIM:607208 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Fatigue, Ataxia, Tremor, Inability to walk, Abnorma... |
OMIM:614831 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevate... |
OMIM:254110 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmet... |
ORPHA:79263 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... |
OMIM:617665 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... |
OMIM:253601 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia 17 |
|
Diffuse cerebral atrophy, Urinary incontinence, Chorea, Dysmetria, Gait ataxia, Intention tremor,... |
OMIM:607136 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concen... |
OMIM:213600 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... |
OMIM:618088 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar... |
ORPHA:263516 |
Atypical Juvenile Parkinsonism |
|
Fatigue, Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal p... |
ORPHA:391411 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D... |
OMIM:614487 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Elevated cir... |
ORPHA:306511 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Elevated circulating cr... |
OMIM:616924 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gai... |
ORPHA:1947 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Clonus, Elevated circulating creatine kinase concentration, Ragged-red m... |
OMIM:616479 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Hypercholesterole... |
OMIM:208920 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Myoclonic seizure, EEG with temporal epileptiform discharges, EEG with frontal ... |
ORPHA:363558 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Tendon xanthomatosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Abnormal pyramidal sign, Dysmetria, Gait atax... |
ORPHA:98 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Decreased compou... |
OMIM:603511 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib... |
OMIM:618416 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... |
OMIM:226750 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Lower limb muscle weakness, Ataxia, Oculomoto... |
ORPHA:313772 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Progressive psych... |
ORPHA:363400 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Epilepsia partialis continua, Exercise intolerance, Ataxia, Tremor, Abnormal ... |
OMIM:612016 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Ataxia, Urinary incontinence, Bowel incontinence, Chorea, Flexion contracture, U... |
OMIM:604802 |
Griscelli Syndrome Type 1 |
|
Seizure, Hyperlipidemia, Hypertonia, Ataxia |
ORPHA:79476 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Urinary incontinence, Progressive neurologic deterioration, Fatty replacement of skele... |
ORPHA:329478 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Urinary incontinence, Ataxia, Parkinsonism, T... |
OMIM:618093 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:618129 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Urinary incontinence, Decreased nerve conduction velocity, Ba... |
OMIM:603516 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
Alexander Disease |
|
Fatigue, Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morpholo... |
OMIM:203450 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue, Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia... |
ORPHA:314632 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Tremor, Oculomotor apraxia, Abnormal pyramidal ... |
OMIM:617145 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Slurre... |
ORPHA:1349 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
Neutral Lipid Storage Disease With Myopathy |
|
Exercise intolerance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, I... |
OMIM:610717 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Seizure, Hyperlipidemia, Hyperuricemia, Cognitive impairment |
ORPHA:364 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyot... |
OMIM:183090 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue, Increased serum pyruvate, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness sei... |
OMIM:251950 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Proximal amyo... |
ORPHA:209335 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop... |
OMIM:615980 |
Kufor-Rakeb Syndrome |
|
Fatigue, Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sig... |
OMIM:606693 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Bowel incontinence, Loss of Purkinje cells in the cerebellar ver... |
ORPHA:276198 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Fatigue, Skeletal muscle atrophy, Sudden cardiac death, Hemiplegia/hemiparesis, Seizure, Transien... |
ORPHA:156 |
Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia |
OMIM:232400 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Parkinsonism, Seizure, Dementia, Hypertonia, Semantic dementia, Myoclonus, Apr... |
ORPHA:1020 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-cloni... |
ORPHA:352582 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Fatigue, Ataxia, Corpus callosum a... |
ORPHA:98673 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... |
ORPHA:466768 |
Methanol Poisoning |
|
Confusion, Abdominal pain, Hyperlipidemia, Abnormal cerebellar cortex morphology, Seizure |
ORPHA:31825 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... |
OMIM:612020 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Babinski sign, Abnormal pyramidal sign, Cerebra... |
OMIM:213700 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperlipidemia, Retrocerebellar cyst, Seizure, Hyperkinetic movements |
ORPHA:289522 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:261 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Cere... |
OMIM:609286 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... |
OMIM:613157 |
Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... |
OMIM:619178 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Blepharospasm, Dyssynergia, Impaired proprioception, Dysmetria, Ga... |
ORPHA:101 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Exercise intolerance, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentr... |
ORPHA:157 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein ... |
OMIM:616267 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Abdominal colic, Hypoalbuminemia, Hyperlipidemia |
OMIM:615863 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... |
OMIM:123320 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Fatigue, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine kina... |
OMIM:607426 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia |
ORPHA:366 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Exercise intolerance, Tremor, Abnormal pyramidal sign, Seizure, Progressive c... |
ORPHA:139485 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Fatigue, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait... |
OMIM:619259 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Dysdiad... |
ORPHA:352649 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Becker Muscular Dystrophy |
|
Exercise intolerance, Skeletal muscle atrophy, Fatigue, Elevated circulating creatine kinase conc... |
ORPHA:98895 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Hypertriglyceridemia |
OMIM:618010 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lafora Disease |
|
Ataxia, Confusion, Focal sensory seizure with visual features, Hypsarrhythmia, Seizure, Gait dist... |
ORPHA:501 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Seizure, Progressive cerebella... |
OMIM:616640 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... |
OMIM:603813 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:607616 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Parkinson Disease 20, Early-Onset |
|
Fatigue, Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gai... |
OMIM:615530 |
Griscelli Syndrome Type 2 |
|
Seizure, Hyperlipidemia, Hypertonia |
ORPHA:79477 |
Adrenomyeloneuropathy |
|
Back pain, Urinary incontinence, Axonal degeneration, Fatigue, Abnormal circulating fatty-acid co... |
ORPHA:139399 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase conc... |
ORPHA:261476 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Sudden cardiac death |
OMIM:610947 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Postexertional symptom exacerbation, Hyperlipidemia |
ORPHA:369 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Cholestasis-Lymphedema Syndrome |
|
Fatigue, Hyperlipidemia, Bone pain, Abdominal pain |
ORPHA:1414 |
Carnitine Palmitoyltransferase I Deficiency |
|
Seizure, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammon... |
OMIM:255120 |
19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Hyperlipidemia, Seizure, Aplasia/Hypoplasia of the cerebellar... |
ORPHA:254346 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Elevated circulating creatinine concentration, Hemiparesis, Seizure, Cognitive im... |
OMIM:235400 |
Tangier Disease |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Morbid Obesity And Spermatogenic Failure |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Seizure, Hyperlipidemia |
ORPHA:2089 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Kufor-Rakeb Syndrome |
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Urinary incontinence, Abnormal pyramidal sign, Hypertonia, Fatigue, Eyelid apraxia, Confusion, Pa... |
ORPHA:306674 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:228308 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hypertriglyceridemia |
OMIM:619175 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... |
ORPHA:565612 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Seizure, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:603552 |
Congenital Analbuminemia |
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Fatigue, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypopro... |
ORPHA:86816 |
Glycogen Storage Disease Ixa1 |
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Fatigue, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Proxi... |
ORPHA:189427 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Impaired pain sensation, EEG abnormality, Seizure, Hypercholesterolemia |
OMIM:182290 |
Reni Syndrome |
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Hypertriglyceridemia, Ataxia, Seizure, Hypoalbuminemia, Mental deterioration |
OMIM:617575 |
Neutral Lipid Storage Disease With Ichthyosis |
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Hypertriglyceridemia, Ataxia, Central nervous system degeneration, Myopathy, Shoulder girdle musc... |
ORPHA:98907 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Abnormal cerebellum morpho... |
ORPHA:77293 |
Schimke Immuno-Osseous Dysplasia |
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Focal hemiclonic seizure, Hyperlipidemia, Hemiparesis, Seizure, Status epilepticus, Hemiplegia |
ORPHA:1830 |
Chylomicron Retention Disease |
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Hypertriglyceridemia, Impaired proprioception, Steatorrhea, Myopathy, Hypocholesterolemia, EMG: m... |
ORPHA:71 |
Hypertriglyceridemia 1 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Neutral Lipid Storage Myopathy |
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Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim... |
ORPHA:98908 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Lipodystrophy, Familial Partial, Type 4 |
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Skeletal muscle hypertrophy, Hypertriglyceridemia |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
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Calf muscle hypertrophy, Hypertriglyceridemia |
ORPHA:280356 |
Chédiak-Higashi Syndrome |
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Cerebellar atrophy, Hyponatremia, Somatic sensory dysfunction, Hypertriglyceridemia, Ataxia, Park... |
ORPHA:167 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Impaired pain sensation, EEG abnormality, Seizure, Gait disturbance, Attent... |
ORPHA:819 |
Familial Chylomicronemia Syndrome |
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Hypertriglyceridemia, Hyperlipidemia, Episodic abdominal pain, Dementia, Increased circulating ch... |
ORPHA:444490 |
Fabry Disease |
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Fatigue, Abdominal pain, Hyperlipidemia, Seizure, Arthralgia, Myalgia, Cognitive impairment, Left... |
ORPHA:324 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Exercise intolerance, Decreased muscle mass, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Lecithin:Cholesterol Acyltransferase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Familial Multiple Lipomatosis |
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Seizure, Hyperlipidemia |
ORPHA:199276 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Elevated circulatin... |
ORPHA:79240 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetrapl... |
OMIM:603553 |
Hyperlipoproteinemia, Type I |
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Hyperlipidemia, Episodic abdominal pain, Lactescent serum, Increased circulating chylomicron conc... |
OMIM:238600 |
Pparg-Related Familial Partial Lipodystrophy |
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Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... |
ORPHA:79083 |
Lipe-Related Familial Partial Lipodystrophy |
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Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:435660 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo... |
ORPHA:2348 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Exercise intolerance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, C... |
OMIM:613327 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hypertriglyceridemia |
OMIM:608898 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia, Flexion contracture |
OMIM:608612 |
Citrullinemia, Type Ii, Adult-Onset |
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Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
Glycogen Storage Disease Ia |
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Xanthelasma, Decreased muscle mass, Hyperuricemia, Hyperlipidemia |
OMIM:232200 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hyperlipidemia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Hyperc... |
OMIM:248370 |
Cholesteryl Ester Storage Disease |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperlipidemia, Flexion contracture, Arthralgia |
ORPHA:90153 |
Lipase Deficiency, Combined |
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Hypertriglyceridemia |
OMIM:246650 |
Aapoaiv Amyloidosis |
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Back pain, Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Fatigue, Hyperlipidemia, Hypoalbuminemia, Abdominal pain |
ORPHA:567546 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Elevated circulatin... |
ORPHA:264580 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuricemia, Cognitiv... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Congenital Generalized Lipodystrophy |
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Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Hypercholesterolemia, Increased ... |
ORPHA:528 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Cerebellar atrophy, Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Generali... |
ORPHA:369837 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Cidec-Related Familial Partial Lipodystrophy |
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Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypertriglyceridemia |
ORPHA:435651 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Abdominal pain, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating... |
ORPHA:567548 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Abd... |
ORPHA:567983 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Hemophagocytic Syndrome Associated With An Infection |
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Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Seizure, Hyperprotein... |
ORPHA:158048 |
Glycogen Storage Disease Ib |
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Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Impaired pain sensation, Hyperlipidemia, Hyperkalemia, Seizure |
ORPHA:293987 |
Familial Hemophagocytic Lymphohistiocytosis |
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Seizure, Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration |
ORPHA:540 |
Woodhouse-Sakati Syndrome |
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Mental deterioration, Hyperlipidemia, Choreoathetosis |
ORPHA:3464 |
Mandibuloacral Dysplasia |
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Contractures of the large joints, Hypertriglyceridemia, Hypercholesterolemia, Increased circulati... |
ORPHA:2457 |
Lcat Deficiency |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proximal upper limb muscle hypertr... |
ORPHA:280365 |
Protoporphyria, Erythropoietic, 1 |
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Hypertriglyceridemia |
OMIM:177000 |
Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Tendon xanthomatosis, Increased LD... |
ORPHA:412 |
Tangier Disease |
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Hypertriglyceridemia, Impaired temperature sensation, Abdominal pain, Facial diplegia, Hypocholes... |
ORPHA:31150 |
Woodhouse-Sakati Syndrome |
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Choreoathetosis, Hyperlipidemia, Abnormality of extrapyramidal motor function |
OMIM:241080 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia, Hyperglycerolemia, Myopathy, Seizure, Muscular dystrophy |
OMIM:307030 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Skeletal muscle hypertrophy, Myalg... |
OMIM:151660 |
Lipodystrophy, Familial Partial, Type 5 |
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Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Myositis, Flexion contracture, Arthralgia, Hypertriglyceridemia |
OMIM:617591 |
Acquired Generalized Lipodystrophy |
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Myopathy, Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hypertriglycer... |
ORPHA:79086 |
Gaisböck Syndrome |
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Fatigue, Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia... |
ORPHA:90041 |
Aromatase Deficiency |
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Hyperlipidemia, Bone pain |
ORPHA:91 |
Apolipoprotein C-Ii Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Glycogen Storage Disease Ic |
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Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Homozygous Familial Hypercholesterolemia |
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Sudden cardiac death, Tendon xanthomatosis, Hyperlipidemia, Abnormal tendon morphology, Increased... |
ORPHA:391665 |
Lysinuric Protein Intolerance |
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Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Hyperlipoproteinemia, Type Id |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Lysosomal Acid Lipase Deficiency |
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Psychomotor deterioration, Hyponatremia, Hypertriglyceridemia, Abdominal pain, Hyperkalemia, Xant... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, D... |
OMIM:606721 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Camptodac... |
OMIM:256040 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Ataxia, Camptodactyly of finger, Confusion, Action tremor, Tremor, Skeletal... |
ORPHA:3455 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Alström Syndrome |
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Somatic sensory dysfunction, Incoordination, Ataxia, Urinary incontinence, Hypertriglyceridemia, ... |
ORPHA:64 |