Spastic Paraplegia 34, X-Linked |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Paraplegia, Clonus, Spastic gait |
OMIM:300750 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia |
ORPHA:1182 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:2672 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Poor fine motor coordination, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, D... |
ORPHA:320370 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation |
ORPHA:2815 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Spastic paraparesis |
OMIM:182610 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Hypertonia, Slurred speech, Impaired social interactions, Spasticity |
OMIM:618103 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Mast Syndrome |
|
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia |
OMIM:248900 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Steppage gait |
OMIM:302802 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness |
OMIM:618221 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... |
OMIM:302800 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity |
OMIM:617854 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... |
ORPHA:254343 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... |
ORPHA:444099 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... |
OMIM:607483 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:604187 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Spastic gait, Lower limb spas... |
OMIM:610357 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis, Apraxia |
OMIM:105550 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... |
ORPHA:99 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia |
ORPHA:496756 |
Adrenoleukodystrophy |
|
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Spastic paraple... |
OMIM:300100 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Short 3rd metacarpal, Polydactyly,... |
OMIM:169400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... |
ORPHA:391417 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... |
ORPHA:506353 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... |
ORPHA:43 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... |
OMIM:614487 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Upper limb spasticity, Spastic paraparesis, Dysmetria, Ankle clonus, Knee clonus, Babinski sign, ... |
OMIM:275900 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delayed social development,... |
ORPHA:208513 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300495 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... |
ORPHA:101077 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic tetraplegia |
OMIM:615643 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment |
OMIM:600223 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... |
ORPHA:206443 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... |
ORPHA:313772 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Hypospadias, Tapered finger, Camptodactyly, Increased mean platelet volume, Clin... |
OMIM:616737 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Spastic paraparesis, Babinski sign, Dysmetria, Spastic dysarthria |
OMIM:616680 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, Hoffmann sign, Babinski sign, ... |
ORPHA:206448 |
Peroxisome Biogenesis Disorder 8B |
|
Spastic paraparesis, Ataxia, Spasticity, Dysmetria |
OMIM:614877 |
Lathosterolosis |
|
Ambiguous genitalia, male, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis,... |
OMIM:607330 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... |
OMIM:300894 |
Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Ataxia, Opisthotonus, Paraplegia, Difficulty walking, Somatic sensory dysfunction, S... |
ORPHA:1136 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Primary Lateral Sclerosis |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic dysarthria, Progressive sp... |
ORPHA:35689 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Spastic paraparesis, Intention tremor, Babinski sign, Rigidity, Head titubation, Progress... |
OMIM:608804 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
Satoyoshi Syndrome |
|
Abnormality of femur morphology, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormal hip ... |
ORPHA:3130 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Inability to walk, Parkinsonism, Progressive spasticity, Gait disturbance, A... |
ORPHA:2822 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... |
ORPHA:543 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... |
ORPHA:289560 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Difficulty walk... |
OMIM:500013 |
Acute Transverse Myelitis |
|
Paraparesis, Impaired vibratory sensation, Babinski sign, Gait disturbance, Paraplegia, Somatic s... |
ORPHA:139417 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... |
ORPHA:101 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor |
ORPHA:329284 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Abnormality of the lymphatic system, Tapered finger, Camptodactyly,... |
ORPHA:487796 |
Arachnoid Cyst |
|
Paraparesis, Inability to walk, Hemiparesis, Distal sensory impairment, Tetraparesis, Gait distur... |
ORPHA:2356 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Coasy Protein-Associated Neurodegeneration |
|
Difficulty walking, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Hypospadias, Avascular necrosis of the capital femoral epiphysis, Increased mean pl... |
OMIM:222470 |
Gaucher Disease, Type Iii |
|
Myoclonus, Ataxia, Spastic paraparesis |
OMIM:231000 |
Poliomyelitis |
|
Paraparesis, Inability to walk, Hyperkinetic movements, Paralysis, Paresthesia, Fasciculations |
ORPHA:2912 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Spastic paraparesis |
OMIM:277580 |
Neurofibromatosis, Familial Spinal |
|
Paraparesis |
OMIM:162210 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... |
OMIM:613280 |
Dopa-Responsive Dystonia |
|
Inability to walk, Poor coordination, Abnormal social behavior, Abnormality of extrapyramidal mot... |
ORPHA:255 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Hand tremor, Spastic paraparesis, Clasp-knife sign, Babinski sign, Distal sensory impairment, Gai... |
ORPHA:101076 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... |
ORPHA:309256 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Spastic paraparesis |
OMIM:618721 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis |
ORPHA:84064 |
Leukodystrophy, Hypomyelinating, 3 |
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Abnormal pyramidal sign, Spastic paraparesis |
OMIM:260600 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Bilateral Perisylvian Polymicrogyria |
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Paraparesis, Pseudobulbar paralysis, Dysmetria, Limb hypertonia, Oromotor apraxia, Spasticity, Sp... |
ORPHA:98889 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Storage Pool Platelet Disease |
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Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Cerebrotendinous Xanthomatosis |
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Paraparesis, Ataxia, Spastic paraparesis, Resting tremor, Babinski sign, Abnormal pyramidal sign,... |
ORPHA:909 |
Isolated Succinate-Coq Reductase Deficiency |
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Ataxia, Loss of ambulation, Spastic paraparesis, Babinski sign, Frequent falls, Spasticity, Lower... |
ORPHA:3208 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Abno... |
OMIM:612840 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Spastic paraparesis, Poor coordination, Impaired vibratory sensation, Abnormal pyramidal sign, Sp... |
OMIM:238970 |
Oculodentodigital Dysplasia |
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Paraparesis, Ataxia, Spasticity, Tetraparesis |
OMIM:164200 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Paraparesis, Paraplegia, Hemiparesis |
ORPHA:79124 |
Lamb-Shaffer Syndrome |
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Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior |
ORPHA:530983 |
Pelizaeus-Merzbacher Disease In Female Carriers |
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Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... |
ORPHA:280229 |
Metachromatic Leukodystrophy, Juvenile Form |
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Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Freq... |
ORPHA:309263 |
Farber Disease |
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Paraparesis, Myoclonus, Spasticity |
ORPHA:333 |
Congenital Disorder Of Glycosylation, Type Iif |
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Clinodactyly, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprote... |
OMIM:603585 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Thrombocytopenia 1 |
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Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypertonia, Ataxia, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal central motor function |
ORPHA:760 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Metachromatic Leukodystrophy, Adult Form |
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Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Prog... |
ORPHA:309271 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Loss of ambulation, Progressive spastic quadriplegia, Progressive extrapyramidal movement disorde... |
ORPHA:329308 |
Rift Valley Fever |
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Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis |
ORPHA:319251 |
Multiple Carboxylase Deficiency |
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Ataxia, Spastic paraparesis |
ORPHA:148 |
Cataracts, Spastic Paraparesis, And Speech Delay |
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Spastic paraparesis |
OMIM:619338 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Distal sensory impairmen... |
ORPHA:254930 |
Igg4-Related Pachymeningitis |
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Paraparesis, Somatic sensory dysfunction |
ORPHA:449427 |
Ovarian Fibroma |
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Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Sternum, Premature Obliteration Of Sutures Of |
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Cryptorchidism, Short sternum |
OMIM:184800 |
Ovarian Fibrothecoma |
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Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Sjogren-Larsson Syndrome |
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Spasticity, Spastic paraparesis |
OMIM:270200 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Poor fine motor coordination, Spastic paraparesis, Babinski sign, Distal sensory impairment, Spas... |
ORPHA:320375 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Lymph node hypop... |
OMIM:613179 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Overfriendliness, Incoordination, Ataxia, Spastic paraparesis |
ORPHA:369891 |
Foix-Alajouanine Syndrome |
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Gait imbalance, Frequent falls, Somatic sensory dysfunction, Difficulty walking, Progressive spas... |
ORPHA:79093 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
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Spastic paraparesis, Unsteady gait, Hand tremor, Dysmetria |
ORPHA:3041 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Müllerian Aplasia And Hyperandrogenism |
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Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Fibrous Dysplasia Of Bone |
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Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal external genitalia, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Ambiguous g... |
ORPHA:95699 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Autosomal Recessive Spastic Paraplegia Type 20 |
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Spastic paraparesis, Impaired vibratory sensation, Ankle clonus, Babinski sign, Spastic dysarthri... |
ORPHA:101000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... |
ORPHA:309854 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary |
ORPHA:2795 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Ataxia, Spastic paraparesis, Hemiparesis, Lower limb spasticity, Gait disturbance, Upper motor ne... |
ORPHA:395 |
Fraser-Like Syndrome |
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Ovarian cyst, Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Bardet-Biedl Syndrome 1 |
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Micropenis, Postaxial polydactyly, Brachydactyly, Syndactyly, Postaxial hand polydactyly, Radial ... |
OMIM:209900 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Childhood Absence Epilepsy |
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Punding, Limb myoclonus, Abnormal social behavior |
ORPHA:64280 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, B lymphocytopenia, T lymphocytopenia, Epididymitis, Neutropenia, Lymph node hypoplas... |
OMIM:300755 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Broad-based gait, Spastic paraparesis |
ORPHA:391408 |
Scheie Syndrome |
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Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
Niemann-Pick Disease Type C |
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Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Abnormal social behavior, Intentio... |
ORPHA:646 |
Argininemia |
|
Frequent falls, Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis |
OMIM:207800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Torticollis, Ataxia, Spastic paraparesis, Myoclonus, Distal sensory impairment, Spasticity, Spast... |
OMIM:609136 |
Adrenomyeloneuropathy |
|
Babinski sign, Distal sensory impairment, Progressive spastic paraparesis, Spasticity, Dysesthesi... |
ORPHA:139399 |
Epidermal Nevus Syndrome |
|
Hypertonia, Babinski sign, Progressive spastic paraparesis |
ORPHA:35125 |
Eales Disease |
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Spastic paraparesis |
ORPHA:40923 |
48,Xxxy Syndrome |
|
Tremor, Abnormal social behavior |
ORPHA:96263 |
Biotinidase Deficiency |
|
Ataxia, Spastic paraparesis |
ORPHA:79241 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... |
ORPHA:99413 |
Turner Syndrome |
|
Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... |
ORPHA:881 |
Mosaic Monosomy X |
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Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... |
ORPHA:99228 |
Monosomy X |
|
Splayed toes, Short toe, Short sternum, Reduced bone mineral density, Enlargement of the distal f... |
ORPHA:99226 |
Oculodentodigital Dysplasia |
|
Gait disturbance, Ataxia, Spasticity, Spastic paraparesis |
ORPHA:2710 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Split Cord Malformation |
|
Paraparesis |
ORPHA:573278 |
Aicardi-Goutières Syndrome |
|
Hypertonia, Hemiplegia/hemiparesis, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnorm... |
ORPHA:51 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Coffin-Lowry Syndrome |
|
Drumstick terminal phalanges, Uterine prolapse, Hyperextensibility of the finger joints, Tapered ... |
OMIM:303600 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior |
ORPHA:93932 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Spastic paraparesis |
OMIM:619234 |
Hurler Syndrome |
|
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis |
ORPHA:93473 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Say-Barber-Miller Syndrome |
|
Ankle clonus, Babinski sign, Spastic paraparesis, Lower limb hypertonia |
ORPHA:3132 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Impaired social interactions, Abnormal social behavior |
ORPHA:177907 |
Mend Syndrome |
|
Limb hypertonia, Abnormal social behavior |
ORPHA:401973 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Speech apraxia, Abnormal social behavior |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Speech apraxia, Abnormal social behavior |
ORPHA:363958 |
Williams Syndrome |
|
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Gait disturbance, ... |
ORPHA:904 |
Tuberous Sclerosis Complex |
|
Repetitive compulsive behavior, Abnormal social behavior |
ORPHA:805 |
Microphthalmia, Syndromic 2 |
|
Spastic paraparesis |
OMIM:300166 |