| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Incoordination, Tremor, Spasti... |
OMIM:160120 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Dystonia 31 |
|
Leg dystonia, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal posturing, Arm ... |
OMIM:619565 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Action tremor, Torsion dystonia, Jerky head movements, Craniofacial dystonia, Limb d... |
ORPHA:98807 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... |
OMIM:601382 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Increased bone mineral density, Depressio... |
ORPHA:94089 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Increased bone mineral density, Depression, Anxiety, Myoclonic ... |
ORPHA:36913 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Depression, Abnormal pyramidal sig... |
ORPHA:216873 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Somatic sensory dysfu... |
ORPHA:320401 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, A... |
OMIM:616657 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptogl... |
OMIM:612126 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky head movement... |
ORPHA:251282 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... |
ORPHA:94090 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... |
ORPHA:401901 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Hyper... |
OMIM:277410 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Hy... |
OMIM:615924 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Episodic Ataxia Type 4 |
|
Vertigo, Ataxia, Abnormal head movements |
ORPHA:79136 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Abnormal circulating calcium concentration, Depression, Dysdiadochokinesis, Abnorma... |
OMIM:213600 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Lower limb hypertonia, Hypomethioninemia, Osteopo... |
ORPHA:2169 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Cortical myoclonus, Hypocalcemia, Reduced bone mineral density, Depression, Anxie... |
ORPHA:428 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... |
OMIM:601455 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Ankle clon... |
ORPHA:521406 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, El... |
OMIM:619470 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... |
OMIM:615362 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... |
ORPHA:3077 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Hearing impairment, Gait ataxia, Spasticity |
ORPHA:217012 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... |
OMIM:612561 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Abnormal autonomic nervous system physiology, Extrapy... |
ORPHA:94093 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia, Irritability |
OMIM:239350 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... |
OMIM:208920 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Elbow flexio... |
ORPHA:306692 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Abnormal head movements, Dystonia |
ORPHA:382 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
| Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Hypocalcemia, Laryngeal dystonia, Increased bone mineral densit... |
ORPHA:79443 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Spasticity |
OMIM:615493 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Tremor, Dystonia, Progressive sensorineural hearing... |
OMIM:304700 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Spasticity |
ORPHA:356996 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Spa... |
OMIM:300983 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Abnormality of extrapyramidal motor function, Tremor, Difficulty ... |
ORPHA:255 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... |
ORPHA:3319 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Action tremor, EEG abnormality, EEG with polyspike wave complexes, Poor... |
OMIM:617665 |
| Huntington Disease-Like 1 |
|
EEG abnormality, Dysmetria, Jerky head movements, Chorea, Gait disturbance, Gait ataxia, Abnormal... |
ORPHA:157941 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
OMIM:607250 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression, Myoclo... |
ORPHA:314632 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia |
OMIM:232700 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Hypercholesterolemia |
OMIM:610947 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... |
ORPHA:248111 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Impulsivity, Hyperactivity, Continuous spike and waves during slow... |
ORPHA:98818 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia |
OMIM:615010 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia, Irritability |
OMIM:261630 |
| Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... |
ORPHA:363710 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behav... |
OMIM:612716 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
| Cln5 Disease |
|
EEG with focal spikes, Ataxia, Poor gross motor coordination, Clumsiness, EEG with spike-wave com... |
ORPHA:228360 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Self-injurious behavior, Inability to walk, Hyperactivity, Tre... |
OMIM:618718 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
ORPHA:94124 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Head-banging, EEG abnormality, Hyperactivity, Self-mutilation, Hypertriglycerid... |
OMIM:182290 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... |
ORPHA:71517 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Abnormal pyramidal sign, Babinski sign, Head ... |
ORPHA:64753 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Rickets, Hemolytic anemia, Re... |
OMIM:611590 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Atypical Rett Syndrome |
|
Loss of ambulation, EEG abnormality, Inability to walk, Inappropriate crying, Hand apraxia, Pill-... |
ORPHA:3095 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Laryngeal dystonia, Increased bone mineral density, Depression, Ectopic ossificatio... |
ORPHA:79444 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... |
OMIM:270500 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... |
OMIM:604326 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Spastic Paraparesis And Deafness |
|
Tremor, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Hepatomegaly, Polycythemia, Abno... |
OMIM:613280 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... |
OMIM:144300 |
| Behr Syndrome |
|
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Optic atr... |
OMIM:210000 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Impulsivity, Hyperactivity, EEG with focal epileptiform discharges, Depression,... |
ORPHA:88616 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Osteopenia, Osteoporosis, Tetra... |
OMIM:612562 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, H... |
OMIM:241410 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Hearing impairment, Abnormality of extrapyramidal motor... |
OMIM:165300 |
| Glycine Encephalopathy |
|
Impulsivity, Irritability, Hyperactivity, Myoclonus, Hyperglycinemia, Aggressive behavior, Lethargy |
OMIM:605899 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Reduced bone minera... |
ORPHA:848 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
| Hypermanganesemia With Dystonia 2 |
|
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Limb joint contracture, Achi... |
OMIM:617013 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, EEG with spike-wave complexes, Myoclonus, Elevated circulating creati... |
OMIM:614018 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Hi... |
ORPHA:99845 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor ner... |
OMIM:609260 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... |
OMIM:261640 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Increased LDL cholesterol concentra... |
OMIM:277460 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hearing impairment, Hyperphosphatemia |
OMIM:614207 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait |
OMIM:182920 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Anxiety, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia,... |
OMIM:618093 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Depression, Dysdiadochokinesis, Anxiety, Ba... |
OMIM:615157 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Ventricular septal defect, Ventricular se... |
OMIM:614947 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Increased bone mineral density, Macular scar, Hydroxyprolinemia... |
OMIM:239000 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Anxiety, Tremor, Dystonia, Cardiomyopathy |
OMIM:619651 |
| Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Depression, Osteoporosis, Hyperostosis frontalis interna, Suicidal ideation, Hyper... |
ORPHA:77296 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia |
OMIM:145600 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Dystonia, Irritability |
OMIM:606438 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Subcutaneous ossification |
OMIM:103580 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Apathy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression... |
ORPHA:240085 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking... |
ORPHA:100973 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis |
OMIM:612462 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ear... |
OMIM:609425 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hepatomegaly, Hypoproteinemia, Decreased HDL... |
ORPHA:247585 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Myoclonus, Falls, Aggressive behavior, EEG with focal sharp slow ... |
ORPHA:2382 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Abnormal cran... |
OMIM:601596 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... |
ORPHA:282166 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Hyperactivity... |
ORPHA:363400 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Impulsivity, Inability to walk, Hyperactivity, Abnormality of extrapyramidal mot... |
ORPHA:500180 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Hearing impairment, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Papilledema, Thickened cortex of long bones, Hyperp... |
OMIM:127000 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... |
ORPHA:48818 |
| Cog4-Cdg |
|
Ataxia, Limb hypertonia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability |
ORPHA:263501 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Impulsivity, Hyperactivity, Hemiparesis, Aggressive behavior, Spastic tetraparesis |
OMIM:604317 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Decreased circulating ferritin concentration, Blepharospasm, Laryngeal dystonia, Bradykin... |
OMIM:606159 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia |
OMIM:617113 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Depression, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spas... |
OMIM:614307 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... |
OMIM:618387 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Choreoathetosis, Jerky head movements, Paroxysmal dystonia |
OMIM:245348 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, S... |
ORPHA:231222 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Macrotia, Babinski sign, Parkinsonism,... |
OMIM:300055 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal head movements, Progressive ... |
ORPHA:247815 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dystonia |
OMIM:605909 |
| Shwachman-Diamond Syndrome |
|
Hepatomegaly, Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Pancytopenia, Leukemia... |
ORPHA:811 |
| Gabriele-De Vries Syndrome |
|
Abnormal pinna morphology, Tremor, Waddling gait, Posteriorly rotated ears, Dystonia |
OMIM:617557 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, External ear malformation, Low-set, posteriorly rotated ears... |
ORPHA:2323 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Increased bone mine... |
OMIM:241520 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Classic Galactosemia |
|
Gait imbalance, Ataxia, Action tremor, Clumsiness, Hepatomegaly, Reduced bone mineral density, De... |
ORPHA:79239 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Inability to walk, Blepharospasm, Tremor, Writer's cramp, To... |
OMIM:128100 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... |
OMIM:616828 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... |
OMIM:617994 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... |
OMIM:612736 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Spasticity... |
ORPHA:99027 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Absent brainstem auditory responses, Sensorineural hearing impairment, I... |
ORPHA:101085 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Hyperactivit... |
OMIM:309548 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Depression, Truncal ataxia, Gait disturbance, Tremor, Difficu... |
ORPHA:98764 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Abnormality of e... |
OMIM:300894 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... |
ORPHA:1929 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Hyperkinetic movements,... |
OMIM:271980 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... |
OMIM:619725 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Hearing impairment |
ORPHA:101078 |
| Aceruloplasminemia |
|
Torticollis, Increased circulating ferritin concentration, Ataxia, Blepharospasm, Aceruloplasmine... |
OMIM:604290 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Gait disturban... |
ORPHA:101077 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis |
OMIM:211900 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... |
ORPHA:2590 |
| Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Hearing impairment |
ORPHA:98771 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... |
ORPHA:1368 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatomegaly, Tetraplegia, Leukocytosis, Anisocytosis, Hepatos... |
OMIM:618278 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Clumsiness, Hyperlysinemia, Hypervalinemia, Leukocyto... |
OMIM:615673 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... |
ORPHA:66624 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Ing... |
ORPHA:485350 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Apathy, Axial dystonia, Autonomic erectile dysfunction, Progressive cerebellar ... |
ORPHA:227510 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose tissue morphology, Osteomalacia, Gait... |
ORPHA:93160 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
EEG abnormality, Inability to walk, Dysmetria, Osteopenia, Optic atrophy, Tremor, Gait ataxia, Sp... |
OMIM:617810 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Anxiety, Parkinsonism, Elevated circulating creatine kinase concentr... |
OMIM:200150 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Hyperkinetic movements, Rigidity, Tremor, Choreoathetosis, Hyperphenylalaninemia... |
OMIM:233910 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Ventricular septal def... |
ORPHA:261250 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Optic disc pallor, Generalized d... |
ORPHA:216866 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... |
ORPHA:124 |
| Multiple System Atrophy, Parkinsonian Type |
|
Apathy, Axial dystonia, Autonomic erectile dysfunction, Progressive cerebellar ataxia, Abnormal a... |
ORPHA:98933 |
| Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Flexion contracture, Hypercholesterolemia |
OMIM:616222 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Clumsiness, Hypercholesterolemia |
ORPHA:488650 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... |
ORPHA:3240 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Papilledema, Hypocalcemic tetany, Hyperphosphatemia, ... |
ORPHA:93325 |
| Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Flexion contracture, Hepatosp... |
OMIM:609628 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Truncal ataxia, Chor... |
OMIM:618587 |
| Huntington Disease-Like 3 |
|
Broad-based gait, Chorea, Abnormal head movements, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Parkinsonism, Ri... |
ORPHA:329284 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Optic atrophy, Neonatal epiphyseal stippling, Hyperphosphatemia, Hearing ... |
OMIM:101800 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Irritability, Rickets,... |
OMIM:277440 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Sensorineural hearing impairment, Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Decreased mo... |
OMIM:302800 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia |
OMIM:608105 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Dystonia, Cardiomyopathy |
OMIM:619647 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... |
ORPHA:79263 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Fragile X Syndrome |
|
Periventricular heterotopia, Abnormal head movements, Macrotia |
OMIM:300624 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Self-injurious behavior, Anxiet... |
ORPHA:819 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Limb hypertonia, Myoclonus, Rigidity, Optic atrophy, Tremor, Difficulty walk... |
ORPHA:442835 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Irritability, Rickets,... |
OMIM:264700 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Abnormal mitral valve morphology, Gait disturbance,... |
ORPHA:1192 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... |
ORPHA:3198 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... |
ORPHA:391417 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Optic atrophy, Tremor, Gait disturbance, Hearing impairment, Abnormal nerve ... |
ORPHA:99014 |
| Perry Syndrome |
|
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... |
OMIM:168605 |
| Growth Hormone Insensitivity Syndrome |
|
Hearing impairment, Hypercholesterolemia |
ORPHA:181393 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Anxiety, Myoclonus, Chorea, Choreoathetosis, Involuntary movemen... |
OMIM:606703 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Depression, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Postural tremor, Depression... |
OMIM:300623 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... |
ORPHA:363558 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Hypsarrhythmia |
OMIM:619970 |
| Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... |
OMIM:261600 |
| Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Depres... |
OMIM:612953 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, EEG abnormality, Flexion contracture, Athetosis, Tremor |
OMIM:617106 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Tremor, Focal dystonia, Jerky head movements, Somatic sensory dysfunction |
ORPHA:240103 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Sialidosis Type 2 |
|
Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Osteoporosis, Tremor, U... |
ORPHA:87876 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Hypertonia, Athetosis, Spasticity, Limb dystonia, Spastic tetraplegia |
ORPHA:621 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Peroxisome Biogenesis Disorder 5B |
|
Sensorineural hearing impairment, Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Un... |
OMIM:614867 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... |
ORPHA:457240 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Dysdiadochokinesis, Park... |
OMIM:618049 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hearing impairment, Hyperphosphatemia |
ORPHA:457059 |
| Galactosemia |
|
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Reduced bone mineral density, Increased leve... |
ORPHA:352 |
| Tay-Sachs Disease |
|
Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Exaggerated startle response, Dysme... |
ORPHA:845 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... |
ORPHA:210128 |
| Spinocerebellar Ataxia 42 |
|
Ataxia, Depression, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, ... |
OMIM:616795 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... |
OMIM:210250 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Tremor, Hearing impairment, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, Myoclonic... |
OMIM:184850 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Rickets |
ORPHA:89937 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Loss of ambulation, Impulsivity, Depression, Babinski sign, Parki... |
OMIM:614298 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Bradykinesia, Hyperactivity, Inappropriate behavior, EEG with generalize... |
OMIM:619827 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, EEG abnormality, Clumsiness, Hoffmann sign, Babinski sign, ... |
ORPHA:206448 |
| Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... |
ORPHA:1942 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity, Depression, Anxiety, Parkinsonism, Frequent... |
ORPHA:329478 |
| Cerebrotendinous Xanthomatosis |
|
Paraparesis, Ataxia, Abnormality of extrapyramidal motor function, Abnormal atrial septum morphol... |
ORPHA:909 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Optic atrophy, Tremor, Spasticit... |
OMIM:164500 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Scarring, Increased blood urea nitrogen, Hepatomegal... |
ORPHA:90321 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hy... |
ORPHA:529808 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hy... |
ORPHA:529799 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Irritabi... |
ORPHA:289157 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Optic disc pallor, Poikilo... |
OMIM:616959 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Hearing impairment, Dystonia |
OMIM:612438 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Trisomy X |
|
Depression, Tremor, Anxiety, Attention deficit hyperactivity disorder |
ORPHA:3375 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Hearing impairment, Dy... |
ORPHA:139485 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Apathy, Abnormal fear/anxiety-related behavior, Ankle flexion contracture, Depression, Myeloproli... |
ORPHA:100924 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Eleva... |
OMIM:617675 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
EEG abnormality, Hyperactivity, Dysmetria, Babinski sign, Clonus, Aggressive behavior, Hypsarrhyt... |
OMIM:617773 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Spasticity |
ORPHA:33445 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Inappropriate crying, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Ab... |
ORPHA:352649 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Oculogy... |
OMIM:608643 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Thin bony cortex, Diff... |
OMIM:600081 |
| Cystinosis |
|
Motor stereotypy, Hypophosphatemia, Hypokalemia, Abnormal pyramidal sign, Gait disturbance, Rickets |
ORPHA:213 |
| Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve... |
ORPHA:2457 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Atrial septal defect, Joint contracture of the hand,... |
ORPHA:352490 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, EEG with spike-wave complexes, Anxiety, Tremo... |
ORPHA:36387 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Apathy, Ataxia, Inability to walk, Depression, Intention tremor, Abnormal pyram... |
OMIM:312080 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cardiomyopathy, Increas... |
OMIM:613313 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
| Infantile Neuroaxonal Dystrophy |
|
Ataxia, Impulsivity, Hyperactivity, Abnormal autonomic nervous system physiology, Flexion contrac... |
ORPHA:35069 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomeg... |
OMIM:278000 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Optic atrophy, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
| Galactokinase Deficiency |
|
Sensorineural hearing impairment, Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol... |
ORPHA:79237 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Self-mutilation, Optic atrophy, Tremor, Choreoathetosis, Dystonia, Bilateral sensorineura... |
OMIM:619422 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... |
ORPHA:309854 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
