Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
contactin 1
Synonyms:
usl,  F3cam,  CNTN

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cntn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cntn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Myopathy 12
Akinesia, Small for gestational age OMIM:612540

The table below shows human diseases predicted to be associated to Cntn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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