Spastic Paraplegia 34, X-Linked |
|
Impaired vibratory sensation, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait |
OMIM:300750 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp... |
ORPHA:320370 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis |
ORPHA:2815 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Spasticity, Hypertonia, Slurred speech, Impaired social interactions |
OMIM:618103 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... |
OMIM:613672 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Limb at... |
OMIM:615157 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Steppage gait, Distal sensory impairment |
OMIM:302802 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb hypertonia, Myo... |
ORPHA:254343 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Impaired social i... |
OMIM:611092 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, Distal sensory impair... |
OMIM:302800 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... |
OMIM:613647 |
Mast Syndrome |
|
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... |
OMIM:248900 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Upper motor ne... |
ORPHA:401901 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... |
OMIM:608636 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... |
OMIM:607483 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Spasti... |
OMIM:610357 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia |
OMIM:105550 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... |
ORPHA:506353 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Impaired vibration sensati... |
ORPHA:444099 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Imp... |
OMIM:300100 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuclei, Giant platel... |
OMIM:169400 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis, Abno... |
ORPHA:391417 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Impaired distal vibration sensation, Abnormal pyramidal sign, Babinski sign, Dysmetria, Spastic d... |
OMIM:616680 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis |
ORPHA:27 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Dysesthesia, Rigidity, Unsteady gait, Babinski sign, Limb ... |
OMIM:614877 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Hypospadias, Cryptorchidism, Thrombocytopenia, Squared iliac bones, Rib fusion, Small... |
OMIM:611209 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculomotor... |
OMIM:614487 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... |
ORPHA:208513 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... |
OMIM:238970 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Primary Lateral Sclerosis |
|
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Progressive spastic ... |
ORPHA:35689 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis |
OMIM:615643 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculom... |
ORPHA:313772 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... |
OMIM:616737 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Impaired social interac... |
OMIM:619738 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Upper limb spa... |
OMIM:275900 |
Lathosterolosis |
|
Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Postaxial h... |
OMIM:607330 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann ... |
ORPHA:206448 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... |
OMIM:608804 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor |
ORPHA:363722 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ... |
OMIM:500013 |
Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... |
ORPHA:3130 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... |
ORPHA:289560 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis |
OMIM:620358 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Inability to walk, Paraparesis, Gait disturbance, Abnormality of extrapyram... |
ORPHA:2822 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior |
ORPHA:1020 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,... |
ORPHA:139417 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... |
ORPHA:2975 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... |
ORPHA:487796 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Difficulty walking, Spastic paraparesis |
ORPHA:397725 |
Arachnoid Cyst |
|
Inability to walk, Paraparesis, Slurred speech, Distal sensory impairment, Hemiparesis, Paresthes... |
ORPHA:2356 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Increased mean platelet volume, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:222470 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Spastic paraparesis |
OMIM:618721 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Spastic paraparesis |
OMIM:277580 |
Poliomyelitis |
|
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations |
ORPHA:2912 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist... |
ORPHA:101076 |
Neurofibromatosis, Familial Spinal |
|
Paraparesis |
OMIM:162210 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Spasticity, Clumsiness, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decere... |
ORPHA:309256 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... |
OMIM:613280 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Lower limb hypertonia, Spastic paraparesis, Loss of ... |
ORPHA:3208 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... |
ORPHA:98889 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Abnormal l... |
OMIM:612840 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Somatic sensory dysfunction, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Ab... |
ORPHA:909 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp... |
ORPHA:280229 |
Prune1-Related Neurological Syndrome |
|
Clonus, Spastic tetraparesis, Inability to walk, Tongue fasciculations, Spastic paraparesis |
ORPHA:544469 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hemiparesis, Paraparesis, Paraplegia |
ORPHA:79124 |
Farber Disease |
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Paraparesis, Spasticity, Myoclonus |
ORPHA:333 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Falls... |
ORPHA:329308 |
Congenital Disorder Of Glycosylation, Type Iif |
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Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocyto... |
OMIM:603585 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
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Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis |
ORPHA:496756 |
Metachromatic Leukodystrophy, Juvenile Form |
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Babinski sign, Spasticity, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Frequent fa... |
ORPHA:309263 |
Purine Nucleoside Phosphorylase Deficiency |
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Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
Thrombocytopenia 1 |
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Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Oculodentodigital Dysplasia |
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Paraparesis, Spasticity, Ataxia, Tetraparesis |
OMIM:164200 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Cataracts, Spastic Paraparesis, And Speech Delay |
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Spastic paraparesis |
OMIM:619338 |
Metachromatic Leukodystrophy, Adult Form |
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Chorea, Babinski sign, Spasticity, Clumsiness, Progressive spastic quadriplegia, Progressive gait... |
ORPHA:309271 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Ataxia, Inability to walk, Abnormal pyramidal sign, Impaired tandem gait, Distal sensory impairme... |
ORPHA:254930 |
Rift Valley Fever |
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Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Leukodystrophy, Hypomyelinating, 3 |
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Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis |
OMIM:260600 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Abnormal social behavior |
ORPHA:444002 |
Sjogren-Larsson Syndrome |
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Spasticity, Spastic paraparesis |
OMIM:270200 |
Ovarian Fibrothecoma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Spastic paraparesis, Incoordination, Ataxia, Overfriendliness |
ORPHA:369891 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp... |
ORPHA:320375 |
Igg4-Related Pachymeningitis |
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Paraparesis, Somatic sensory dysfunction |
ORPHA:449427 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
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Spastic paraparesis, Unsteady gait, Dysmetria, Hand tremor |
ORPHA:3041 |
Foix-Alajouanine Syndrome |
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Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth... |
ORPHA:79093 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly |
ORPHA:247768 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Undulate ribs, Femoral bowing, T... |
OMIM:618188 |
Autosomal Recessive Spastic Paraplegia Type 20 |
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Impaired vibratory sensation, Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, ... |
ORPHA:101000 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Micropenis,... |
ORPHA:95699 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... |
ORPHA:309854 |
Fraser-Like Syndrome |
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Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe |
OMIM:229230 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ... |
ORPHA:314647 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvarial ossificat... |
OMIM:620076 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Upper motor ne... |
ORPHA:395 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Bardet-Biedl Syndrome 1 |
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Decreased testicular size, Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:209900 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Broad-based gait, Spastic paraparesis |
ORPHA:391408 |
Agammaglobulinemia, X-Linked |
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Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatit... |
OMIM:300755 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Childhood Absence Epilepsy |
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Limb myoclonus, Abnormal social behavior |
ORPHA:64280 |
Scheie Syndrome |
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Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
Argininemia |
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Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis |
OMIM:207800 |
Niemann-Pick Disease Type C |
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Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Clumsines... |
ORPHA:646 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Torticollis, Ataxia, Spastic tetraplegia, Distal sensory impairment, Myoclonus, Spastic parapares... |
OMIM:609136 |
Epidermal Nevus Syndrome |
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Progressive spastic paraparesis, Babinski sign, Hypertonia |
ORPHA:35125 |
Adrenomyeloneuropathy |
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Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment, Spasticit... |
ORPHA:139399 |
48,Xxxy Syndrome |
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Tremor, Abnormal social behavior |
ORPHA:96263 |
Eales Disease |
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Spastic paraparesis |
ORPHA:40923 |
Split Cord Malformation |
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Paraparesis |
ORPHA:573278 |
Biotinidase Deficiency |
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Ataxia, Spastic paraparesis |
ORPHA:79241 |
Oculodentodigital Dysplasia |
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Spasticity, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:2710 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ... |
ORPHA:99413 |
Turner Syndrome |
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Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ... |
ORPHA:881 |
Mosaic Monosomy X |
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Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ... |
ORPHA:99226 |
Fg Syndrome Type 1 |
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Broad-based gait, Abnormal social behavior |
ORPHA:93932 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Aicardi-Goutières Syndrome |
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Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasti... |
ORPHA:51 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
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Spastic paraparesis |
OMIM:619234 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Hurler Syndrome |
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Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis |
ORPHA:93473 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hypertonia, Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Say-Barber-Miller Syndrome |
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Ankle clonus, Lower limb hypertonia, Babinski sign, Spastic paraparesis |
ORPHA:3132 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Mend Syndrome |
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Abnormal social behavior, Limb hypertonia |
ORPHA:401973 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Speech apraxia, Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Speech apraxia, Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363958 |
Williams Syndrome |
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Ataxia, Involuntary movements, Tremor, Dysmetria, Gait disturbance, Gait imbalance, Abnormality o... |
ORPHA:904 |
Microphthalmia, Syndromic 2 |
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Spastic paraparesis |
OMIM:300166 |
Tuberous Sclerosis Complex |
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Abnormal social behavior |
ORPHA:805 |