Posterior Column Ataxia |
|
Impaired vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Hydrocephal... |
ORPHA:363717 |
Spastic Paraplegia 72A, Autosomal Dominant |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... |
OMIM:615625 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... |
ORPHA:101010 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Aggressive behavior, Spastic ataxia,... |
OMIM:618369 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy |
OMIM:605388 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm... |
OMIM:607136 |
Spinocerebellar Ataxia Type 5 |
|
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech |
ORPHA:98766 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... |
ORPHA:101108 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar atrophy, Cerebellar ataxia associated with quadrupe... |
OMIM:615268 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired distal propri... |
OMIM:619742 |
Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617769 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
Huntington Disease-Like 1 |
|
Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoordination, Chorea, Gait ataxi... |
ORPHA:157941 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia |
OMIM:143100 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617133 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:117210 |
Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... |
ORPHA:248111 |
Pontocerebellar Hypoplasia, Type 4 |
|
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C... |
OMIM:225753 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk, Chorea, Abnor... |
ORPHA:300605 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... |
ORPHA:284332 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
Christianson Syndrome |
|
Cerebellar atrophy, Gait ataxia, Cachexia, Aplasia/Hypoplasia of the cerebellum, Truncal ataxia |
ORPHA:85278 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... |
ORPHA:98769 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Shuffling gait, Somatic sensory dysfunction, Rigidity, Parkinsonism, Apraxia, Gait di... |
OMIM:221820 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... |
ORPHA:276193 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Lower limb spasticity, Ataxia, Truncal at... |
OMIM:616948 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Recurrent hand flapping, Motor st... |
OMIM:617862 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... |
OMIM:616291 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... |
OMIM:608636 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:615705 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... |
OMIM:604432 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:614322 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Babinski sign, Dysmetria, Ataxia |
OMIM:617584 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive behavior, Ataxia, Po... |
OMIM:619150 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor |
OMIM:608029 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... |
OMIM:109150 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis, Dysphagia, Gliosis |
OMIM:300857 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... |
OMIM:617270 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... |
ORPHA:98762 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... |
OMIM:610357 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Truncal at... |
OMIM:616230 |
Spinocerebellar Ataxia 29 |
|
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Truncal titubation, C... |
OMIM:117360 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... |
ORPHA:423275 |
Dystonia 31 |
|
Difficulty walking, Parkinsonism, Dysphagia, Abnormal posturing |
OMIM:619565 |
Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Gliosis, Motor stereotypy |
OMIM:172700 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Disinhibition, Babins... |
ORPHA:275872 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... |
OMIM:616127 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... |
OMIM:613728 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy |
OMIM:614063 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intent... |
OMIM:615386 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... |
OMIM:611302 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,... |
ORPHA:512260 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax... |
OMIM:248900 |
Huntington Disease-Like 2 |
|
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss |
ORPHA:98934 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... |
ORPHA:284324 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria |
OMIM:617770 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait |
ORPHA:284271 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Ataxia, Truncal ataxia,... |
OMIM:601238 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Parkinsonism, Dysdiadochokinesis, Prog... |
OMIM:604326 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... |
OMIM:617633 |
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... |
OMIM:607565 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... |
OMIM:619806 |
Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus |
OMIM:604213 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, High palate,... |
OMIM:612936 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Gliosis,... |
ORPHA:457240 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
Autism |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... |
OMIM:137440 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign,... |
ORPHA:204 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... |
OMIM:616204 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation |
OMIM:617171 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Inability to walk, Tremor, Babinski sign, ... |
OMIM:128100 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Spasticity, Broad-based gait, Hypoplasia of the pons, Difficulty walking... |
OMIM:617695 |
Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Failure to thrive, Cerebellar ... |
OMIM:614877 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Spasticity, Clonus, Tetraplegia |
OMIM:614959 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Cerebellar atrophy, Neonatal death, Babinski sign, Cachexia |
OMIM:618186 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... |
ORPHA:101112 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Bruxism, Tremor, Ankle clonus, Motor s... |
OMIM:617435 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... |
OMIM:607346 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, ... |
OMIM:618917 |
Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Gait disturbance, Tetraplegia, Gliosis |
OMIM:604484 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Gait disturbance |
ORPHA:157973 |
Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, Lower limb spasticit... |
ORPHA:280210 |
Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... |
OMIM:600224 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gliosi... |
OMIM:236792 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Cerebellar hypoplasia, Opisthotonus, Gliosis, Restlessness, Dysph... |
OMIM:277470 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m... |
ORPHA:101070 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... |
OMIM:609270 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight |
ORPHA:1672 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Involuntary movements, Gastroesophageal reflux, Inability to walk, Hyper... |
OMIM:618218 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Astrocytosis, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressi... |
OMIM:600795 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Gliosis, Distal sensory impairment, Abnormality of extrapyramidal motor function |
OMIM:604218 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... |
ORPHA:397946 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Inappropriate behavior, Myoclonus, Disinhibition, Babinski sign, Apraxia, Gait distur... |
OMIM:221770 |
Riboflavin Transporter Deficiency |
|
Cachexia, Myoclonus, Tremor, Ataxia |
ORPHA:97229 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia 44 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis |
OMIM:617691 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... |
OMIM:617145 |
Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
Boucher-Neuhauser Syndrome |
|
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin... |
OMIM:215470 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Gliosis, Ataxia |
OMIM:169500 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Fasciculations, Astrocytosis, Abnormality of extrap... |
ORPHA:275864 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... |
ORPHA:208513 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal a... |
ORPHA:352403 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Abnormal posturing, Inability to walk, Opisthotonus, Gait disturbance, ... |
ORPHA:216866 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation |
ORPHA:98771 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy |
OMIM:620174 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Hypertonia |
OMIM:615095 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Myelin-dependent gliosis, High palate, Dysphag... |
OMIM:201550 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia |
OMIM:614229 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... |
OMIM:600223 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... |
ORPHA:98764 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... |
ORPHA:98772 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Involuntary movements, Spasticity, Inability to walk, Motor stereotypy |
OMIM:617820 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy, Spastic diplegia |
OMIM:617830 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Hyd... |
OMIM:613155 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis |
OMIM:613002 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... |
OMIM:620158 |
Pelizaeus-Merzbacher Disease |
|
Spasticity, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Choreoathetosis |
ORPHA:702 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Cerebellar atrophy, Abnormal astrocyte morphology, Cerebellar hypoplasia, Gliosis |
ORPHA:168486 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy |
OMIM:619470 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Spasticity, Inability to walk, Failure to thrive in infancy, Cachexia, Hypertonia |
OMIM:616801 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Apraxia, Parkinsonism, Paraparesis, Gliosis, Extrapyramidal dyskinesia |
OMIM:105550 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Flynn-Aird Syndrome |
|
Cachexia, Impaired pain sensation, Ataxia |
ORPHA:2047 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo... |
OMIM:300957 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... |
ORPHA:225147 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Spinocerebellar Ataxia 13 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr... |
OMIM:605259 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Inability to walk, Gliosis, Ataxia, Cerebellar gliosis, Cerebellar cyst,... |
ORPHA:79243 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Speech apraxia, Aggressive behavior, A... |
OMIM:613670 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Gait ataxia, Decreased body weight, Babinski sign, Sensory ataxia |
ORPHA:445062 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia |
OMIM:615282 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia |
ORPHA:1933 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Atypical Rett Syndrome |
|
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Imp... |
ORPHA:3095 |
Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... |
ORPHA:98759 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Cerebellar atrophy, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, Cerebellar hyp... |
OMIM:301310 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Abnormal pyramidal sign, Gliosis, Ataxia, Unsteady gait, Spastic tetraplegia |
OMIM:256600 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth vent... |
OMIM:183090 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Dysphagia, Abnormal posturing, Tremor |
OMIM:304700 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula... |
OMIM:611390 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Lower limb spasticity, Oc... |
OMIM:604391 |
Huntington Disease |
|
Involuntary movements, Decreased body mass index, Difficulty walking, Inability to walk, Chorea, ... |
ORPHA:399 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Spasticity, Gait disturbance, Gliosis, Unsteady gait |
OMIM:603896 |
Foxg1 Syndrome |
|
Spasticity, Gastroesophageal reflux, Difficulty walking, Inability to walk, Bruxism, Myoclonus, S... |
ORPHA:561854 |
Hemimegalencephaly |
|
Myoclonus, Gliosis, Hemiparesis |
ORPHA:99802 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Cachexia, Hypertonia, Ataxia, Athetosis |
ORPHA:52503 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign... |
ORPHA:280763 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Aggressive behavior, Gait ataxia, Hyperactivity |
OMIM:609425 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia |
OMIM:612020 |
Spinocerebellar Ataxia 34 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor... |
OMIM:133190 |
Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Parkinsonism, Gait distu... |
OMIM:168601 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Attention deficit hyperactivi... |
OMIM:619725 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Postural tremor, Action tremor, Torticollis, Motor stereotypy |
ORPHA:98807 |
Rett Syndrome |
|
Spasticity, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia |
OMIM:312750 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticol... |
ORPHA:98768 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia |
ORPHA:42 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Apraxia, Parkinsonism, Repetitive compulsive behavior, Gliosis, Agitat... |
OMIM:607485 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Huntington Disease-Like 2 |
|
Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia |
OMIM:606438 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Distal sensory... |
OMIM:603516 |
Isaacs Syndrome |
|
Weight loss, Distal sensory impairment, Fasciculations |
ORPHA:84142 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Cerebellar vermis hypoplasia, Gait ataxia, Abnormal pyramidal sign, Poor fine... |
OMIM:618800 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Myoclonus, Dysmetria, Trem... |
ORPHA:845 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... |
OMIM:183086 |
Leigh Syndrome, Nuclear |
|
Spasticity, Gliosis, Ataxia |
OMIM:256000 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau... |
OMIM:618718 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Gait disturbance |
ORPHA:2774 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms, Hypertonia, Gliosis |
OMIM:614498 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... |
ORPHA:98760 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Tremor, Rigidity, Gliosis, Unsteady gait, Bradykinesia, Dysphagia, Impulsivity |
ORPHA:683 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Cerebral palsy, Myoclonus, Opisthotonus, Babinski sign, Clonus, Gliosis, Hypertonia, ... |
OMIM:619847 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis, Spastic tetraplegia, Tetraplegia, Hypertonia |
OMIM:608033 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity |
ORPHA:139480 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Hypertonia |
ORPHA:1389 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Spasticity, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia |
OMIM:612069 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Spasticity, Gastroesophageal reflux, Motor stereotypy |
OMIM:617393 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Paresthesia, Weight loss |
ORPHA:298 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy, Cerebellar atrophy |
OMIM:619690 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Cachexia, Mo... |
ORPHA:803 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Resting tremor, Akinesia, Rigidity, Impulsivity, Parkinsonism, Parkinsonism with ... |
ORPHA:411602 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... |
ORPHA:459056 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... |
OMIM:616267 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Motor stereotypy, Choreoath... |
OMIM:619317 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Motor stereotypy |
OMIM:619092 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... |
OMIM:615960 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hyperesthesia, Severe failure to thrive, Cachexia, Spastic tetraplegia |
ORPHA:371364 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Cerebellar hypoplasia, Gliosis, Head titubation, Spastic tetraplegia |
ORPHA:3240 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst |
OMIM:615181 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Cerebellar atrophy, Aggressive behavior, Attention deficit hyperactivity disord... |
OMIM:301029 |
Infantile Krabbe Disease |
|
Hyperesthesia, Spasticity, Failure to thrive, Myoclonus, Ankle clonus, Opisthotonus, Cachexia, Lo... |
ORPHA:206436 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Inability to walk, Gait ataxia, Recurrent hand flapping, Protruding tongue, O... |
OMIM:619580 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Aggressive behavior, Parkinsonism, Gliosis |
OMIM:606688 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... |
OMIM:277460 |
Xq28 (MECP2) duplication |
|
Gastroesophageal reflux, Inability to walk, Gait ataxia, Dysphagia, Progressive spasticity, Motor... |
DECIPHER:45 |
Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss |
ORPHA:98897 |
Whipple Disease |
|
Myoclonus, Cachexia, Abnormal pyramidal sign, Hydrocephalus, Ataxia |
ORPHA:3452 |
Isolated Succinate-Coq Reductase Deficiency |
|
Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Weight loss, Ataxia, Spastic ... |
ORPHA:3208 |
Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal motor fun... |
OMIM:615673 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hydrocephal... |
OMIM:613153 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis, High palate |
OMIM:300215 |
Familial Acute Necrotizing Encephalopathy |
|
Spasticity, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia |
ORPHA:88619 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar hypoplasia, Cerebellar atrophy, Gliosis |
OMIM:214150 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Ataxia, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity, ... |
OMIM:620451 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Incoordination, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactiv... |
OMIM:614104 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Chorea, Gait ataxia, Myoclonus, Aggressive behavior, Gliosis, Ataxia, Spastic tetraplegia |
OMIM:618321 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Inability to walk, Lower limb spasticity, G... |
OMIM:617193 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Gastroesophageal reflux, Recurrent hand flapping, Cerebellar hypoplasia,... |
OMIM:300986 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Cachexia, Hydrocephalus, Ataxia |
ORPHA:220295 |
Leigh Syndrome |
|
Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Olivopontocerebellar atrophy, Abno... |
ORPHA:506 |
Mannosidosis, Alpha B, Lysosomal |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Babinski sign, Abnormal pyramidal sign,... |
OMIM:248500 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Spasticity, Cerebral palsy, Attention deficit hyperactivity disorder, Repetitive compulsive behav... |
ORPHA:352490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Gliosis, High palate, Cerebellar atrophy, Basal ganglia gliosis |
OMIM:604377 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Trisomy 18 |
|
Chiari malformation, Cachexia, Spina bifida, Hypertonia, Holoprosencephaly, Anencephaly |
ORPHA:3380 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Torticollis |
ORPHA:71272 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Glossopharyngeal Neuralgia |
|
Chiari type I malformation, Weight loss, Dysesthesia, Vocal cord paralysis |
ORPHA:221098 |
Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Gastroesophageal reflux, Cerebellar hypoplasia, Gliosis, Anal atresia |
ORPHA:261652 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction,... |
ORPHA:909 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Cerebellar atrophy, Gliosis |
OMIM:616239 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Cerebellar atrophy, Loss of ambulation, Clumsiness, Parkinsonism, Motor ... |
ORPHA:79264 |
Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Cachexia, Obesity, Tremor |
ORPHA:85293 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Bifid uvula, Dysmetria, Babinski sign, Scissor gait, Attention deficit hyperactivity disorder, Ag... |
OMIM:619121 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Hemiparesis, Cerebellar hypoplasia, ... |
OMIM:618004 |
Cockayne Syndrome |
|
Spasticity, Cerebellar dentate nucleus calcification, Cerebellar atrophy, Somatic sensory dysfunc... |
ORPHA:191 |
Joubert Syndrome 6 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, O... |
OMIM:610688 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hyperactivity disor... |
OMIM:617600 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Gastroesophageal reflux, Aggressive behavior, Attention deficit hyp... |
OMIM:620242 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... |
OMIM:618825 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Gastroesophageal reflux, Inability to walk, Bruxism, Chorea, Rigidity, Lower ... |
OMIM:300260 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... |
ORPHA:228402 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia |
OMIM:175500 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Cerebellar atrophy, Inability to walk, Myoclonus, Obsessive-compulsive trait, Aggress... |
ORPHA:168491 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Difficulty walking, Gait ataxia, Moto... |
OMIM:617807 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cerebellar vermis hypoplasia, Spasticity, Gait ataxia, Self-mutilation, Cerebellar hypoplasia, Mo... |
OMIM:300486 |
Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Rigidity, Parkinsonism, Gliosis, B... |
OMIM:609454 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Hijazi-Reis Syndrome |
|
Gastroesophageal reflux, Ankle clonus, Lower limb spasticity, Gait disturbance, Motor stereotypy |
OMIM:301094 |
Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Astrocytosis, Tremor, Rigidity, Parkinsonism, Glios... |
OMIM:601104 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonus, Gliosis, Cerebellar atrophy, Basal ganglia gliosis |
OMIM:614946 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Paresthesia, Weight loss |
ORPHA:3165 |
Ritscher-Schinzel Syndrome 4 |
|
Narrow palate, Chorea, Cerebellar hypoplasia, Impulsivity, Aggressive behavior, Dysphagia, Ataxia... |
OMIM:619435 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Paroxysmal bursts of laughter, High palate, Motor ... |
OMIM:618347 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Hi... |
OMIM:618342 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,... |
OMIM:620141 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Weight loss |
ORPHA:517 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Failure to thrive |
OMIM:614857 |
Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:391 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Spasticity, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Motor st... |
ORPHA:208447 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia |
OMIM:168605 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
Smith-Magenis Syndrome |
|
Pain insensitivity, Head-banging, Impaired pain sensation, Velopharyngeal insufficiency, Onychoti... |
OMIM:182290 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Dilated fourth ventricle, Motor stereotypy, Lobulated tongue |
OMIM:613443 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski sign, Gliosis, Ataxia, Trunc... |
OMIM:301072 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Restlessness, Oral-pharyngeal dysphagia, Chorea, Myocl... |
OMIM:615273 |
Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Motor stereotypy |
ORPHA:530983 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Spasticity, Aplasia/Hypoplasia of the cerebellum, Dysphagia, Motor stereotypy |
ORPHA:572013 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressiv... |
OMIM:600430 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Pitt-Hopkins-Like Syndrome 1 |
|
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,... |
OMIM:610042 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Gastroesophageal reflux, Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Distal sensory impairment, Cachexia, Weight loss, Hypoesthesia |
OMIM:603041 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Spasticity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Poor coordination, ... |
OMIM:618430 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Positive Romberg sign, Myoclonus, Dysmetria, Gait ataxia, Impaired distal propr... |
OMIM:607459 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Motor stereotypy, Myoclonus, Hypoplasia of the pons |
ORPHA:411986 |
Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Hydrocephalus, Ataxia |
ORPHA:65285 |
Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Hemiplegia/... |
ORPHA:217260 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated ... |
OMIM:617751 |
Perry Syndrome |
|
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity |
ORPHA:813 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperacti... |
OMIM:620292 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, High palate, Motor stereotypy |
OMIM:615637 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Gastroesophageal reflux, Exaggerated median tongue furrow, Aggressive be... |
ORPHA:313892 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Volvulus, Inability to walk, Dysphagia, Motor stereotypy |
OMIM:617802 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Speech apraxia, Chiari type I malformation, Motor stereotypy, Attention ... |
ORPHA:261197 |
Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss, Somatic sensory dysfunction, Abnormal superior cerebellar peduncle morphology, Torti... |
ORPHA:370348 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Dysphagia, Gliosis |
ORPHA:26791 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gastroesophageal reflux, Impaired pain sensation, Incoordination, Gait ataxia, Overfriendliness, ... |
OMIM:616579 |
Molybdenum Cofactor Deficiency, Type B |
|
Neonatal death, Opisthotonus, Gliosis, Myoclonic spasms, Hypertonia, Spastic tetraplegia |
OMIM:252160 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Inability to walk, Chorea, Impaired oral bolus formation, Myoclonus, Action t... |
ORPHA:404454 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Ataxia |
ORPHA:79242 |
Xfe Progeroid Syndrome |
|
Poor coordination, Cachexia, Failure to thrive |
OMIM:610965 |
48,Xxyy Syndrome |
|
Gastroesophageal reflux, Tremor, Attention deficit hyperactivity disorder, Ataxia, Motor stereoty... |
ORPHA:10 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Tetraparesis, Astrocytosis, Myoclonus, Paralysis, Gliosis, Hypertonia, Ataxia |
OMIM:203700 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Gastroesophageal reflux, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, S... |
OMIM:300912 |
Fatal Familial Insomnia |
|
Weight loss, Myoclonus, Ataxia |
OMIM:600072 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608049 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spastic paraplegia, Broad-based gait, Limb ataxia, Paralysis, Cachexia, Oculomotor apraxia, Hydro... |
ORPHA:2072 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Coffin-Siris Syndrome 6 |
|
High, narrow palate, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Tics, Mot... |
OMIM:617808 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Motor stereotypy, Agitation, Ataxia |
ORPHA:927 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
Radio-Tartaglia Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Gait imbalance, Tremor, Aggressive behavior, Attent... |
OMIM:619312 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Spasticity, Broad-based gait, Poor hand-eye coordination, Speech apraxia, Ileus, Aggressive behav... |
OMIM:300352 |
Developmental And Epileptic Encephalopathy 66 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Motor stereotypy |
OMIM:618067 |
Reticular Dysgenesis |
|
Weight loss, Failure to thrive |
ORPHA:33355 |
4Q21 Microdeletion Syndrome |
|
Cerebellar hypoplasia, Self-injurious behavior, Motor stereotypy, Tremor |
ORPHA:238750 |
Erdheim-Chester Disease |
|
Abnormal cerebellum morphology, Weight loss, Ataxia |
ORPHA:35687 |
Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Myoclonus, Failure to thrive, Ataxia |
OMIM:256700 |
Reynolds Syndrome |
|
Xerostomia, Gastroesophageal reflux, Dysphagia, Abnormal gastric mucosa morphology |
ORPHA:779 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Speech apraxia, Attention deficit hyperactivity disorder, High palate, Unsteady... |
OMIM:618205 |
Gm1 Gangliosidosis |
|
Ataxia, Spasticity, Failure to thrive, Tremor, Abnormality of extrapyramidal motor function, Gait... |
ORPHA:354 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Neonatal death |
OMIM:231680 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Motor stereotypy, Hypertonia |
OMIM:619877 |
Rett Syndrome, Congenital Variant |
|
Spasticity, Gastroesophageal reflux, Bruxism, Chorea, Apraxia, Tongue thrusting, Athetosis, Motor... |
OMIM:613454 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Schwartz-Jampel Syndrome |
|
Blepharospasm, Decreased body weight, Cachexia, Gait disturbance, Hypertonia |
ORPHA:800 |
Cri-Du-Chat Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Difficulty walking, Oppositional defiant disorder, Overfrie... |
OMIM:123450 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal posturing, Failure to thrive |
OMIM:242840 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyper... |
OMIM:617061 |
Rhabdoid Tumor |
|
Hemiplegia, Weight loss, Cerebral palsy |
ORPHA:69077 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Motor stereotypy |
ORPHA:228384 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Wilson Disease |
|
Failure to thrive, Difficulty walking, Increased body weight, Clumsiness, Weight loss |
ORPHA:905 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Difficulty walking, Falls, Gliosis, Ankle clonus |
OMIM:618222 |
Rett Syndrome |
|
Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Gait disturbance, Br... |
ORPHA:778 |
Potocki-Lupski Syndrome |
|
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hyperactivity, High palate, Motor stereotypy |
OMIM:610883 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Aggressive behavior, Hyperactivity, Self-biting, High palate, Motor stereotypy |
ORPHA:3306 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Head tremor, Motor stereotypy, Ataxia |
OMIM:619428 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Gastroesophageal reflux, Cleft soft palate, Stereotypical hand wringing, Aggres... |
ORPHA:268261 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive |
ORPHA:178029 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Spasticity, Inability to walk, Cerebellar hypoplasia, Spastic ataxi... |
ORPHA:300570 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Coffin-Siris Syndrome 7 |
|
Chiari type I malformation, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Motor st... |
OMIM:618027 |
Camurati-Engelmann Disease |
|
Slender build, Waddling gait, Cachexia, Ataxia |
ORPHA:1328 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, High palate, Motor s... |
OMIM:616393 |
3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy, Cleft pa... |
ORPHA:435638 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Cerebral palsy, Aggressive behavior, Hypertonia, Motor stereotypy, Impul... |
OMIM:618914 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Spasticity, Cerebellar atrophy, Cataplexy, Fasciculations, Tetraplegia, Dysphagia, Ataxia, Progre... |
ORPHA:496641 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, High palate, Submucous cleft hard palate, Aggressive behavior, Ataxia, ... |
ORPHA:457279 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Gastroesophageal reflux, Chiari malformation, Hypoplasia of the pons, Overfriendliness, Attention... |
OMIM:619293 |
Non-Functioning Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:94080 |
Molybdenum Cofactor Deficiency, Type A |
|
Opisthotonus, Gliosis, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia |
OMIM:252150 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Recurrent hand flappi... |
ORPHA:449291 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Cerebellar hypoplasia, Cerebellar dysplasia, Motor stereotypy |
ORPHA:500159 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy |
OMIM:616351 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Spasticity, Head-banging, Hypoplasia of the pons, Attention deficit... |
OMIM:620455 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Bruxism, Ankyloglossia, Motor stereotypy, Polyphagi... |
OMIM:615873 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Spasticity, Cerebellar atrophy, Neonatal death, Gliosis, Ataxia |
OMIM:124000 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Gastroesophageal reflux, Inability to walk, Myoclonus, Tremor, Stereotypical hand wri... |
OMIM:619229 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Cerebellar dy... |
ORPHA:98889 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Cerebellar atrophy, Frequent temper tantrums, Submucous cleft hard palate, Attentio... |
OMIM:619103 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive |
ORPHA:1842 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Spasticity, Bifid uvula, Inappropriate laughter, Babinski sign, Hyp... |
OMIM:615802 |
Familial Colorectal Cancer Type X |
|
Paresthesia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Weight loss, Hype... |
ORPHA:440437 |
Neuroblastoma |
|
Myoclonus, Weight loss, Antalgic gait, Ataxia |
ORPHA:635 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hemiballismus, Gastroesophageal reflux, Chorea, Self-mutilation, Hyperkinetic movements, Motor st... |
ORPHA:522077 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Periodic paralysis, Tremor |
OMIM:613239 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Impaired pain sensation, Attention deficit hype... |
ORPHA:819 |
Alazami Syndrome |
|
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing |
ORPHA:319671 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Weight loss, Extrapyramidal dyskinesia, Ataxia |
ORPHA:134 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Clumsiness, Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereot... |
OMIM:615656 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disord... |
ORPHA:476126 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Wild Type Attr Amyloidosis |
|
Impaired vibratory sensation, Weight loss |
ORPHA:330001 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Spasticity, Anteriorly placed anus, Dysmetria, Tremor, Gliosis, Ata... |
OMIM:220111 |
Papillorenal Syndrome |
|
Chiari type I malformation, Gliosis |
OMIM:120330 |
D-Bifunctional Protein Deficiency |
|
High palate, Cerebellar atrophy, Gliosis |
OMIM:261515 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Spasticity, Cerebellar hypoplasia, Lower limb spasticity, Gliosis, High palate, Abnormal pons mor... |
OMIM:300868 |
Unilateral Polymicrogyria |
|
Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti... |
ORPHA:268943 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Spasticity, Inability to walk, Limb hypertonia, Gliosis, High palate, Spastic tetr... |
OMIM:620371 |
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
Norrie Disease |
|
Failure to thrive, Cachexia, Aplasia/Hypoplasia of the cerebellum, Clonus, Hypertonia |
ORPHA:649 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Gastroesophageal reflux, Cere... |
OMIM:617330 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:275761 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
White-Sutton Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Cerebellar atrophy, Hypoplasia of the pons, Inc... |
ORPHA:468678 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Protruding tongue, Self-mutilation, Stereotypical hand wringing, Cerebellar hypoplasia, Aggressiv... |
OMIM:212066 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, High palate |
OMIM:618354 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Gait disturbance, Weight loss, Hemiplegia/hemiparesis |
ORPHA:183 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Tetraparesis, Lower limb spasticity, Limb hypertonia, Tetraplegia, Hypertonia... |
OMIM:615846 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Gastroesophageal reflux, Impaired pain sensation, Bruxism, Aggressive behavior,... |
OMIM:606232 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Oromandibular Dystonia |
|
Blepharospasm, Weight loss, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, High palate, Motor stereotypy, Compulsive behaviors |
OMIM:613174 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Hyperactivity, High palate, Pica, Motor stereotypy |
OMIM:617796 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Motor stereotypy |
ORPHA:529965 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis |
ORPHA:142 |
Graves Disease |
|
Weight loss |
OMIM:275000 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Failure to thrive, Ataxia |
OMIM:212750 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Diets-Jongmans Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Gliosis, Duodenal atresia |
OMIM:618846 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, High palate, Motor stereotypy |
ORPHA:397612 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
ORPHA:391307 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss |
ORPHA:2902 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Gastroesophageal reflux, Hand tremor, Gait ataxia, High palate, Dysmetria, Cere... |
OMIM:614756 |
Giant Cell Arteritis |
|
Paresthesia, Weight loss, Ataxia |
ORPHA:397 |
White-Sutton Syndrome |
|
Self-injurious behavior, Bifid uvula, Gastroesophageal reflux, Overfriendliness, Aggressive behav... |
OMIM:616364 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Niemann-Pick Disease, Type C2 |
|
Spasticity, Cataplexy, Dysphagia, Ataxia, Motor stereotypy |
OMIM:607625 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Myoclonus, Spastic hemiparesis, Weight loss, Ataxia |
ORPHA:20 |
X-Linked Agammaglobulinemia |
|
Weight loss, Failure to thrive |
ORPHA:47 |
Cystinosis |
|
Motor stereotypy, Polydipsia, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Failure to thrive, Spastic diplegia, Weight loss, Hypertonia, Spastic tetraparesis, S... |
OMIM:619487 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Inferior cerebellar vermis hypoplasia, Gastroesophageal reflux, Inabilit... |
OMIM:615485 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Weight loss |
ORPHA:2070 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Motor stereotypy |
OMIM:617682 |
Gabriele-De Vries Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Attention deficit hyperactivity disorder, Esophageal atresia, ... |
ORPHA:506358 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Cleft palate |
ORPHA:1727 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Spasticity, Broad-based gait, Ankyloglossia, Progressive spastic quadriplegia, Isometric tremor, ... |
OMIM:619475 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
Megalocornea-Intellectual Disability Syndrome |
|
High palate, Motor stereotypy, Ataxia |
ORPHA:2479 |
Riddle Syndrome |
|
Poor hand-eye coordination, Clumsiness, Gait disturbance, Weight loss, Ataxia |
ORPHA:420741 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Alveolar Echinococcosis |
|
Ataxia, Eosinophilia, Weight loss, Hemiparesis |
ORPHA:284 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Involuntary movements, Motor stereotypy |
ORPHA:98784 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia |
ORPHA:79155 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, C... |
OMIM:620494 |
Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Marfan Syndrome |
|
Slender build, Meningocele, Cachexia |
ORPHA:558 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Spasticity, Cerebellar atrophy, Unilateral vocal cord paralysis, Attention deficit h... |
OMIM:301030 |
2Q37 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Pyloric stenosis |
ORPHA:1001 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
Choreoacanthocytosis |
|
Blepharospasm, Impaired vibratory sensation, Involuntary movements, Poor motor coordination, Fall... |
ORPHA:2388 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Protruding tongue, Aggressive behavior, Compulsive behaviors, Macrogloss... |
OMIM:610253 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Gastroesophageal reflux, Hair-pulling, Motor stereotypy, Lower limb spasticity, Clonus, Hyperacti... |
ORPHA:447997 |
Oculopharyngodistal Myopathy 1 |
|
Difficulty walking, Weight loss, Tremor, Ataxia |
OMIM:164310 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon |
OMIM:601374 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Motor stereotypy, Gastroesophageal reflux, Myoclonus |
OMIM:300672 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Weight loss, Failure to thrive, Ataxia |
ORPHA:99885 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Duodenal atresia... |
ORPHA:468631 |
Developmental And Epileptic Encephalopathy 100 |
|
Gastroesophageal reflux, Chorea, Gait ataxia, Myoclonus, Protruding tongue, Dysphagia, High palat... |
OMIM:619777 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Incoordination, Gait ataxia, Motor stereotypy |
OMIM:610954 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Gastroesophageal reflux, Motor stereotypy |
ORPHA:261144 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, High, narrow palate, Hematochezia, Head-banging, Frequent temper tantrum... |
OMIM:619575 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Spasticity, Inability to walk, Limb hypertonia, Motor stereotypy |
ORPHA:457351 |
Kleefstra Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Self-mutilation, Aggressive behavior, Macroglos... |
ORPHA:261494 |
Secondary Short Bowel Syndrome |
|
Weight loss, Failure to thrive |
ORPHA:95427 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Dysmetria, Cerebellar hypoplasia, Aggressive behavior, Polyphagia, Hyper... |
ORPHA:96121 |
Williams Syndrome |
|
Spasticity, Involuntary movements, Chiari malformation, Gastroesophageal reflux, Peptic ulcer, Co... |
ORPHA:904 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:276621 |
Poems Syndrome |
|
Hyperesthesia, Paresthesia, Weight loss |
ORPHA:2905 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Stickler Syndrome |
|
Slender build, Cachexia, Hemiplegia/hemiparesis |
ORPHA:828 |
Osteootohepatoenteric Syndrome |
|
Weight loss, Hydrocephalus, Failure to thrive |
OMIM:619377 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Hypoplasia of the pons, Frequent temper tantrums, Cerebellar hypoplasia,... |
OMIM:619512 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Weight loss |
ORPHA:139402 |
Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive |
ORPHA:92050 |
African Trypanosomiasis |
|
Involuntary movements, Myelopathy, Somatic sensory dysfunction, Fasciculations, Difficulty walkin... |
ORPHA:3385 |
Simple Cryoglobulinemia |
|
Paresthesia, Spontaneous pain sensation, Weight loss |
ORPHA:91139 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Familial Glucocorticoid Deficiency |
|
Weight loss, Tetraplegia, Failure to thrive |
ORPHA:361 |
Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynophagia, Eos... |
OMIM:147060 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Cystic Echinococcosis |
|
Eosinophilia, Weight loss |
ORPHA:400 |
Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Weight loss, Failure to thrive |
ORPHA:199299 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age, Hand tremor |
ORPHA:424 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Self-mutilation, Attention deficit hyperactivity disorder, High palate, ... |
OMIM:619005 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
ORPHA:488618 |
Lynch Syndrome |
|
Paresthesia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Weight loss, Hype... |
ORPHA:144 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss |
ORPHA:465508 |
Polycythemia Vera |
|
Paresthesia, Weight loss |
ORPHA:729 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Gastroesophageal reflux, Stereotypical body rocking, Gait ataxia, Cerebellar hy... |
ORPHA:513456 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Thyrotoxic Periodic Paralysis |
|
Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet... |
ORPHA:79102 |
Rauch-Steindl Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619695 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:29072 |
Behçet Disease |
|
Paresthesia, Hemiparesis, Abnormal pyramidal sign, Gait disturbance, Weight loss, Ataxia |
ORPHA:117 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Polydipsia, Gastric ulcer, Ataxia |
ORPHA:3463 |
Kinsship Syndrome |
|
Gastroesophageal reflux, Bruxism, Ankyloglossia, Myoclonus, Spastic tetraparesis, Motor stereotyp... |
OMIM:619297 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Bifid uvula, Head-banging, Skin-picking, Attention deficit hyperactivit... |
ORPHA:177907 |
Imerslund-Gräsbeck Syndrome |
|
Weight loss, Failure to thrive |
ORPHA:35858 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Lymphoid Interstitial Pneumonia |
|
Weight loss, Failure to thrive |
ORPHA:79128 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Self-injurious behavior, Fixa... |
OMIM:620330 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Loss of ambulation, Hiatus hernia, Uns... |
OMIM:616682 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Acrodermatitis Enteropathica |
|
Weight loss, Failure to thrive |
ORPHA:37 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Eosinophilia, Weight loss |
ORPHA:98849 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, Gastroesophageal reflux, Protruding tongue, Macroglossia, Motor stereotypy |
OMIM:301040 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis |
OMIM:617403 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Gait disturbance, Hyperactivity, Motor stereotypy, Duodenal atresia, Pyl... |
ORPHA:464306 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hand tremor |
ORPHA:99819 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Cachexia |
ORPHA:75565 |
Adult-Onset Still Disease |
|
Weight loss |
ORPHA:829 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Chorea, Myoclonus, Rigidity, Opisthotonus, Motor stereotypy, Choreoathetos... |
ORPHA:217253 |
Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
Multiple Myeloma |
|
Paresthesia, Weight loss |
ORPHA:29073 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Gait disturbance, Motor stereo... |
ORPHA:464311 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Opisthotonus, Motor stereotypy, Hypertonia |
ORPHA:508533 |
Wiedemann-Steiner Syndrome |
|
Gastroesophageal reflux, Aggressive behavior, Dysphagia, Hyperactivity, High palate, Motor stereo... |
ORPHA:319182 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive |
ORPHA:1018 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Insulin-Resistance Syndrome Type B |
|
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, High palate, Motor stereotypy, Anteriorly placed anus |
OMIM:618653 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Gastric ulcer, Esophageal ulceration |
OMIM:618372 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Gastroesophageal reflux, Chiari malformation, Abnormal fear-induced beha... |
ORPHA:353281 |
Brucellosis |
|
Chorea, Weight loss, Small for gestational age, Failure to thrive |
ORPHA:1304 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Acute Adrenal Insufficiency |
|
Weight loss, Failure to thrive |
ORPHA:95409 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Kikuchi-Fujimoto Disease |
|
Weight loss, Ataxia |
ORPHA:50918 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Hemiplegia/hemiparesis, Abnormal intestine morp... |
ORPHA:1606 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Fanconi Anemia |
|
Hydrocephalus, Weight loss, Spina bifida |
ORPHA:84 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Arboleda-Tham Syndrome |
|
Gastroesophageal reflux, Intestinal malrotation, Gait imbalance, Dysphagia, Motor stereotypy, Cle... |
OMIM:616268 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Motor stereotypy, Cleft palate |
OMIM:301066 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Macr... |
ORPHA:580 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
Systemic Lupus Erythematosus |
|
Chorea, Weight loss |
ORPHA:536 |
Coffin-Siris Syndrome 1 |
|
Intestinal malrotation, Gait ataxia, Aggressive behavior, Compulsive behaviors, High palate, Duod... |
OMIM:135900 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Chiari malformation, Abnormal fe... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Chiari malformation, Abnormal fe... |
ORPHA:353277 |
Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Clonu... |
ORPHA:534 |
Granulomatosis With Polyangiitis |
|
Hemiplegia, Weight loss |
ORPHA:900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, High palate, Poor coordination, Motor stereotypy, Spastic diplegia |
OMIM:309590 |
Ogden Syndrome |
|
Narrow palate, Dysphagia, Hypertonia, Torticollis, High palate, Motor stereotypy |
OMIM:300855 |
Coffin-Siris Syndrome 12 |
|
Gastroesophageal reflux, Chiari malformation, Velopharyngeal insufficiency, Enlarged cerebellum, ... |
OMIM:619325 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive |
ORPHA:2020 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Addison Disease |
|
Weight loss, Failure to thrive |
ORPHA:85138 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Bifid uvula, Impaired pain sensation,... |
ORPHA:261537 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss, Failure to thrive |
OMIM:219800 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Gastroesophageal reflux, Hypertonia, Spastic tetraparesis, Motor stereotypy, Cleft palate |
OMIM:301044 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Weight loss |
ORPHA:449395 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Bifid uvula, Impaired pain sensation,... |
ORPHA:2152 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Bifid uvula, Impaired pain sensation,... |
ORPHA:261552 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Bifid uvula, Tremor, High palate, Motor stereotypy |
OMIM:612474 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Primrose Syndrome |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxia, T... |
OMIM:259050 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Failure to thrive |
ORPHA:90794 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased eosinophil count |
ORPHA:99889 |
Sarcoidosis |
|
Eosinophilia, Weight loss |
ORPHA:797 |
Wolf-Hirschhorn Syndrome |
|
Malrotation of small bowel, Gastroesophageal reflux, Motor stereotypy, Cleft palate |
OMIM:194190 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle response, High palate, M... |
OMIM:619522 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
Lowe Oculocerebrorenal Syndrome |
|
Aggressive behavior, Motor stereotypy |
OMIM:309000 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Congenital Myopathy 12 |
|
Akinesia, Small for gestational age |
OMIM:612540 |