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
Myopathy, Congenital, Compton-North
Small for gestational age, Akinesia OMIM:612540

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady g... OMIM:213200
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkins... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Gait ataxia OMIM:618369
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Gliosis, Positiv... OMIM:607136
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Spinocerebellar Ataxia Type 5
Slurred speech, Gait disturbance, Cerebellar atrophy, Incoordination ORPHA:98766
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia OMIM:143100
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Cerebellar ... ORPHA:248111
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... OMIM:619565
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Clonus, Opisthotonus, Amyotrophic lateral sclerosis, Hypertonia, Dystonia... ORPHA:300605
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Spastic par... OMIM:611252
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Hype... OMIM:225753
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Christianson Syndrome
Dystonia, Cachexia, Cerebellar atrophy, Stereotypy, Aplasia/Hypoplasia of the cerebellum, Truncal... ORPHA:85278
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Failure to thrive, Ataxia, Inability to walk, Tetraparesis, Tongue ... OMIM:618276
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Cerebellar hypoplasia, Spasticity, Uns... OMIM:615768
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebellar atrophy, Stereotypy OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia OMIM:615705
Machado-Joseph Disease
Babinski sign, Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dilated fourth ventricle, Glios... OMIM:109150
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Gait ataxia OMIM:616192
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia OMIM:618876
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Cerebellar atrophy OMIM:616187
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, High palate, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Spa... OMIM:612936
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build, Ataxia OMIM:613662
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Clonus, Gliosis, Spasticity OMIM:614959
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus, Cerebellar atrophy OMIM:600143
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... OMIM:610245
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Gliosis, Fasciculations, Distal sensory impairment, Tetraplegia OMIM:604484
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Gordon Holmes Syndrome
Ataxia, Cerebellar atrophy OMIM:212840
Behr Syndrome
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Cerebellar vermis atrophy, Inability to walk, Ataxia, ... OMIM:619389
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Gliosis, Shuffling gait, Bradykinesia, Apraxia, Spasticity OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Neurodegeneration With Brain Iron Accumulation
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... ORPHA:385
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Cerebellar atrophy, Head titubation, Dysmetria, Gliosis, Intention tremor, Incoordinat... OMIM:301790
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Spasticity OMIM:618186
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxia, Oculomot... OMIM:617633
Huntington Disease-Like 2
Involuntary movements, Dystonia, Gait disturbance, Chorea, Weight loss, Parkinsonism ORPHA:98934
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis, Astrocytosis, At... ORPHA:204
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity OMIM:617916
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... ORPHA:101110
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Dysphagia, Weakness due to upper motor neuron dysfunction, Gliosis, Abnormality of... ORPHA:275872
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Dysphagia, Gliosis OMIM:300857
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Small for gestational age, Choreoathetosis, Dilated fourth ventricle, Torticollis,... OMIM:619054
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia OMIM:604213
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Distal sensory impairment, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis OMIM:604218
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar h... OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Dysdiadochokines... OMIM:616204
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Cerebellar atrophy, Failure to thrive, Dysmetria, Ataxia, Spasticity OMIM:617954
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis OMIM:256731
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, In... ORPHA:98
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... OMIM:617013
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... OMIM:617672
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Chorea, Paroxysmal dyskinesia, Falls, Stereotypy, Ataxia OMIM:619150
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Ataxia, Oculomotor apraxia OMIM:615217
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Aprax... OMIM:137440
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Gliosis, Lower limb spasticity, Ataxia, Inability to walk, Cerebellar hypoplasia, ... ORPHA:280210
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... OMIM:610185
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Spastic ataxia, Spasticity, Gait ataxia OMIM:611390
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... OMIM:617560
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsoni... OMIM:618317
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, High palate, Upper limb spasticity, Cerebellar dysplasia, Gliosis, Stereotypy, ... ORPHA:457240
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Failure to thrive, Dysmetria... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... ORPHA:370022
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Dysphagia, Rigidity, Choreoathetosis, Frequent falls, ... ORPHA:225154
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis, Hemiparesis OMIM:613002
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... OMIM:616719
Pick Disease Of Brain
Gliosis, Stereotypy OMIM:172700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Ataxia, Distal sensory impairment, Cerebellar atrophy OMIM:607250
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia OMIM:616267
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Opisthotonus, Frequent falls, Weight loss, Inability to walk, Generalized dysto... ORPHA:216866
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Dysdiadochoki... ORPHA:208513
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Gliosis, Hypertonia OMIM:614498
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnor... ORPHA:101070
Diencephalic Syndrome
Cachexia, Decreased body weight, Hydrocephalus ORPHA:1672
Riboflavin Transporter Deficiency
Tremor, Ataxia, Cachexia, Myoclonus ORPHA:97229
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity ORPHA:168486
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Intention tremor, Ataxia, Spasticity, Gait ataxia, A... OMIM:215470
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Pseudobulbar paralysis, Gliosis, Ataxia, Spasticity, Abnormal cerebellum morphology OMIM:169500
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... ORPHA:397946
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Extrapyramidal dyskinesia, Paraparesis, Apraxia, Tetraparesis, Parkinsonism OMIM:105550
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Huntington Disease-Like 1
Rigidity, Dysmetria, Chorea, Basal ganglia gliosis, Incoordination, Unsteady gait OMIM:603218
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Myoclonus, Gliosis OMIM:614946
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Spinocerebellar Ataxia Type 17
Involuntary movements, Dystonia, Gait disturbance, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... OMIM:618917
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction ORPHA:98771
Microcephaly 10, Primary, Autosomal Recessive
Hypertonia, Gliosis, Spasticity, Cerebellar atrophy OMIM:615095
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Stereotypy OMIM:239500
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Ataxia-Pancytopenia Syndrome
Babinski sign, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Ataxia, Impaired vibrati... OMIM:159550
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Failure to thrive in infancy, Cachexia, Choreoathetosis, Ataxia, Spas... ORPHA:702
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Failure to thrive, Myoclonus, Ataxia, Hypertonia, Spasticity OMIM:618426
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Spasticity OMIM:618088
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Hypoplasia of the pons, Gliosis, Extrapyramidal dyskinesia, Cerebellar hypoplasia OMIM:277470
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Gliosis, Spastic tetraplegia, Ataxia, Unsteady gait, Abnormal pyramidal sign OMIM:256600
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclo... ORPHA:251347
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Dysphagia, Chorea, Bradykinesia, Resting tremor, Hemip... ORPHA:225147
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Gliosis, Tremor, Cerebellar vermis hypoplasia, Hyperkinetic movements, Spastici... OMIM:300957
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Spasticity, Stereotypy OMIM:617393
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dilated fourth ventricle, Dysmetria, Tremor, Cerebel... ORPHA:1170
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... OMIM:615157
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Myoclonus, Gliosis, Spasticity, Apraxia OMIM:221770
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Gliosis, Abnormality of extrapyramidal motor function, Spastic tetraparesis, ... OMIM:236792
Hemimegalencephaly
Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Adducted Thumbs Syndrome
High, narrow palate, Dysphagia, Cleft palate, High palate, Myelin-dependent gliosis, Velopharynge... OMIM:201550
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Abno... OMIM:607694
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Funct... ORPHA:3095
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Babinski sign, Cerebellar atrophy, Sensory ataxia, Decreased body weight, Gait ataxia ORPHA:445062
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia OMIM:613155
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Cerebellar atrophy, Failure to thrive, Ataxia, Tetraparesis OMIM:619310
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, High palate, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Waddlin... ORPHA:280763
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Rigidity, Myoclonus, Astrocytosis, Stereotypy OMIM:600795
Mulibrey Nanism
Cachexia ORPHA:2576
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dystonia, Dysphagia, Rigidity, Myoclonus, Gliosis, Bradykinesia, Shuffling gait... OMIM:168601
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Gliosis, Spasticity, Unsteady gait, Lethargy OMIM:603896
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Tremor, Spasticity, Abnormal posturing OMIM:304700
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation ORPHA:2047
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Cerebellar cyst, Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Ataxia, Inability ... ORPHA:79243
Pontocerebellar Hypoplasia, Type 11
Dysphagia, Poor coordination, Stereotypy, Ataxia, Inability to walk, Spasticity, Broad-based gait... OMIM:617695
Pulmonary Blastoma
Weight loss ORPHA:64741
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Hyperactivity, Ataxia, Hypertonia ORPHA:52503
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressive cerebell... OMIM:603516
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Spinocerebellar Ataxia 13
Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Abnormal pyramidal sign, Limb ... OMIM:605259
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic ataxia, Ataxia, Oculomotor apraxia, D... OMIM:614487
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Fasciculations, Intention tremor, ... OMIM:615491
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Babinski sign, Cerebellar atrophy, Ataxia, Progressive spastic paraplegia OMIM:612020
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Progres... ORPHA:284289
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity OMIM:616801
Moynahan Syndrome
Cachexia ORPHA:2574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Huntington Disease
Clumsiness, Gait disturbance, Dystonia, Clonus, Gait imbalance, Involuntary movements, Rigidity, ... ORPHA:399
Spinocerebellar Ataxia Type 36
Babinski sign, Dysphagia, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremo... ORPHA:276198
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Rigidity, Gliosis, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic dysarthria, Ataxia, Oculomotor apraxi... ORPHA:313772
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... OMIM:618598
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity ORPHA:100973
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Dysphagia, Cerebellar atrophy, Fr... ORPHA:845
Rett Syndrome
Dystonia, Cachexia, Truncal ataxia, Spasticity, Gait ataxia, Gait apraxia OMIM:312750
Leigh Syndrome
Dystonia, Ataxia, Gliosis, Spasticity OMIM:256000
Spinocerebellar Ataxia Type 8
Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... ORPHA:98760
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Blepharospasm, Tremor, Hypertonia, Torsion dystonia, Abnormal posturing OMIM:128100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Tetraplegia, Hypertonia, Gliosis, Spastic tetraplegia OMIM:608033
Ataxia-Telangiectasia-Like Disorder 1
Dystonia, Cerebellar atrophy, Frequent falls, Chorea, Lower limb spasticity, Oculomotor apraxia, ... OMIM:604391
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia OMIM:619092
Leukodystrophy, Hypomyelinating, 15
Athetosis, Dystonia, Cerebellar atrophy, Failure to thrive, Intention tremor, Ataxia, Inability t... OMIM:617951
Foxg1 Syndrome
Dystonia, Choreoathetosis, Myoclonus, Stereotypy, Inability to walk, Hyperkinetic movements, Ster... ORPHA:561854
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Lethargy ORPHA:42
Spinocerebellar Ataxia 36
Babinski sign, Cerebellar atrophy, Fasciculations, Ataxia, Hypertonia, Incoordination, Truncal at... OMIM:614153
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Cerebellar hypoplasia OMIM:214150
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Stereotypy OMIM:609425
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Gliosis OMIM:220111
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Cerebellar atrophy, Dysmetria, Intention tremor, Distal sensory impairment, Ataxia... OMIM:612674
Spinocerebellar Ataxia Type 13
Clumsiness, Cerebellar atrophy, Torticollis, Myoclonus, Bradykinesia, Impaired distal vibration s... ORPHA:98768
Isaac Syndrome
Distal sensory impairment, Weight loss, Fasciculations ORPHA:84142
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Gait ataxia ORPHA:139480
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, Myoclonus, Inten... OMIM:616505
Tuberculosis
Weight loss ORPHA:3389
Spinocerebellar Ataxia Type 10
Babinski sign, Cerebellar atrophy, Gait imbalance, Kinetic tremor, Dysmetria, Lower limb spastici... ORPHA:98761
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Cogw... OMIM:607454
Xfe Progeroid Syndrome
Cachexia, Poor coordination OMIM:610965
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Abnormal pyramida... OMIM:618800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Chorea, Gliosis, Ataxia, Lethargy OMIM:618321
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal p... OMIM:608768
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spinocerebellar Ataxia 32
Ataxia, Cerebellar atrophy OMIM:613909
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Head titubation, Cerebellar hypoplasia, Spastic tetraplegia ORPHA:3240
Mcdonough Syndrome
Cachexia ORPHA:2471
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Astrocytosis, Ste... ORPHA:275864
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy ORPHA:276183
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Positive Romberg sign, Ataxia, Limb ataxia, Gait ataxia OMIM:614575
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia, Paresthesia ORPHA:298
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oc... OMIM:615960
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal lower motor neuron morphology ORPHA:93941
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Hypertonia ORPHA:1389
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Choreoathetosis, Cerebellar dysplasia, Chorea, Frequent falls, Abno... OMIM:615673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Hydroce... OMIM:613153
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Cerebellar atrophy, Myoclonus, Gliosis, Astrocytosis, Ataxia, Hypertonia OMIM:203700
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Dysphagia, Spasticity, Stereotypy OMIM:612069
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Machado-Joseph Disease Type 3
Clumsiness, Dystonia, Babinski sign, Cerebellar atrophy, Dilated fourth ventricle, Vocal cord par... ORPHA:276244
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... OMIM:617751
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Dysmetria, Impaired vibratory sensation, Spasticity, Spastic paraplegia, Abnormal ... ORPHA:459056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia OMIM:615181
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Gait disturbance, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Abnormalit... OMIM:614298
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Rigidity, Frequent falls, Gliosis, Shuffling gait, Bradykinesia, Parkinsonis... ORPHA:411602
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, High palate, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, ... ORPHA:544254
Lissencephaly, X-Linked, 2
High palate, Gliosis, Spasticity OMIM:300215
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Abnormality of extrapyramidal motor function, Spastic tetrapa... ORPHA:280219
Renpenning Syndrome
Cachexia ORPHA:3242
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Rigidity, Gliosis, Spastic tetraplegia, Hypertonia, Spasticity ORPHA:88619
Whipple Disease
Cachexia, Myoclonus, Ataxia, Hydrocephalus, Abnormal pyramidal sign ORPHA:3452
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Stereotypy OMIM:615541
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy OMIM:613670
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive, Hyperesthesia, Spastic tetraplegia ORPHA:371364
Idiopathic Achalasia
Weight loss ORPHA:930
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Head tremor, Myoclonus, Limb tre... ORPHA:420492
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Weight loss, Cachexia, Slender build OMIM:603041
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Cerebellar atrophy, Macroglossia, Gliosis, Spasticity, Abnormal pyramidal sign, Li... OMIM:248500
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis, Spasticity OMIM:616239
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Upper limb spasticity, Cataplexy, Gliosis, Lower limb spasticity, Ataxia, Ina... OMIM:617193
Xq28 (MECP2) duplication
Progressive spasticity, Dysphagia, Stereotypy, Inability to walk, Gait ataxia, Gastroesophageal r... DECIPHER:45
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Vocal cord paresis, Loss of ability to walk, Difficulty walking ORPHA:98897
Infantile Krabbe Disease
Cachexia, Opisthotonus, Failure to thrive, Myoclonus, Hyperesthesia, Lower limb spasticity, Decer... ORPHA:206436
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Eye poking OMIM:204100
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Leigh Syndrome
Athetosis, Involuntary movements, Dystonia, Dysphagia, Cerebellar atrophy, Choreoathetosis, Gastr... ORPHA:506
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy OMIM:618906
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Cerebellar atrophy, Broad-based gait, Stereotypy OMIM:301029
Sandifer Syndrome
Torticollis, Esophagitis, Gastroesophageal reflux, Hiatus hernia, Hematemesis, Abnormal posturing ORPHA:71272
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Trophic limb changes, Gliosis OMIM:118301
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Stereotypy, Cerebellar vermis hypoplasia, Spasticity, Unsteady gait, Gait ataxia, Diffi... OMIM:617807
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... ORPHA:352490
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Snijders Blok-Campeau Syndrome
High, narrow palate, Speech apraxia, Stereotypy, Broad-based gait, Unsteady gait OMIM:618205
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Poor motor coordination, Stereotypy,... ORPHA:79264
Supranuclear Palsy, Progressive, 1
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Gliosis, Falls, Bradykinesia... OMIM:601104
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Hydrocephalus, Spasticity ORPHA:220295
Cdkl5-Deficiency Disorder
Gait disturbance, Stereotypical hand wringing, Difficulty walking, Impaired pain sensation ORPHA:505652
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Trisomy 18
Cachexia, Chiari malformation, Anencephaly, Holoprosencephaly, Hypertonia, Spina bifida ORPHA:3380
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Mental Retardation, Autosomal Dominant 40
High palate, Impaired pain sensation, Stereotypy, Gait ataxia, Gastroesophageal reflux OMIM:616579
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy,... OMIM:619580
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Tremor, Hyperactivity, Broad-based gait, Obesity ORPHA:85293
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Multiple gastr... ORPHA:2494
Tetrasomy 12P
Cachexia ORPHA:884
Supranuclear Palsy, Progressive, 2
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Gliosis, Fa... OMIM:609454
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Gliosis, Apraxia OMIM:607485
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Frequent falls, Weight loss, Loss of ability to walk, Ataxia, Spastic tetraparesis... ORPHA:3208
Glossopharyngeal Neuralgia
Dysesthesia, Weight loss, Vocal cord paralysis, Chiari type I malformation ORPHA:221098
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Dystonia, Pontocerebellar atrophy, Cerebellar atrophy, Impaired distal t... OMIM:606002
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, Paresthesia, Abnormal oligodendroglia morphology,... ORPHA:217260
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Stereotypy, Ataxia, Hyperactivity, Stereotypical hand wringing, Incoordination OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Stereotypy, Hyperactivity, Cerebellar vermis h... OMIM:300486
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Hereditary Central Diabetes Insipidus
Weight loss, Lethargy ORPHA:30925
Bilateral Generalized Polymicrogyria
Dystonia, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity, O... ORPHA:208447
Cockayne Syndrome
Gait disturbance, Cachexia, Cerebellar atrophy, Limb hypertonia, Progressive gait ataxia, Intenti... ORPHA:191
Cerebrotendinous Xanthomatosis
Babinski sign, Dystonia, Gait disturbance, Cerebellar atrophy, Gliosis, Abnormality of extrapyram... ORPHA:909
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Lethargy OMIM:614857
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oral-pharyngeal dysphagia, Oculogyric... ORPHA:178469
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:183086
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Weight loss, Eosinophilia, Paresthesia ORPHA:3165
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Tongue thrusting, Spasticity ORPHA:77299
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Acute Myelomonocytic Leukemia
Weight loss, Eosinophilia ORPHA:517
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Cerebellar atrophy, Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Hyperact... ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, High palate, Stereotypy, Attention deficit hyperactivity disorder, Ataxia, Hype... OMIM:300986
Vici Syndrome
Failure to thrive, Cerebellar vermis hypoplasia, Abnormal posturing OMIM:242840
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... OMIM:168605
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Lhermitte-Duclos Disease
Ataxia, Enlarged cerebellum, Hydrocephalus ORPHA:65285
Aredyld Syndrome
Cachexia ORPHA:1133
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Tetraparesis, Stereotypy ORPHA:85277
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Myoclonus, Stereotypy ORPHA:411986
Chronic Hiccup
Weight loss ORPHA:396
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Dystonia, Cleft palate, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia,... ORPHA:261197
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Gastroesophageal reflux, Cerebellar hypoplasia, Anal atresia ORPHA:261652
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Gliosis, Cerebellar hypoplasia, Meckel diverticulum OMIM:602613
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hyperactivity, Hydrocephalus, Attentio... ORPHA:8
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Wolman Disease
Cachexia ORPHA:75233
Central Diabetes Insipidus
Failure to thrive, Weight loss, Lethargy ORPHA:178029
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Oromandibular Dystonia
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Hyperkinetic movements, Generaliz... ORPHA:93958
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Dysphagia, High palate, Rigidity, Chorea, Lower limb spasticity, Stereoty... OMIM:300260
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Bifid uvula, Spastic tetraplegia, Stereotyp... OMIM:619121
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Recurrent hand flapping, Narrow palate OMIM:615516
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Lethargy ORPHA:79242
Coffin-Siris Syndrome 6
High, narrow palate, Cleft palate, Stereotypy, Tics, Attention deficit hyperactivity disorder, Ga... OMIM:617808
48,Xxyy Syndrome
Cleft palate, Stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder, Gastroesophag... ORPHA:10
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-base... ORPHA:98794
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, High palate, Hypertonia OMIM:618916
Primary Myelofibrosis
Cachexia ORPHA:824
Angelman Syndrome Due To A Point Mutation
Dysphagia, Gait imbalance, Tongue thrusting, Ataxia, Broad-based gait, Recurrent hand flapping, P... ORPHA:411511
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Peripheral Primitive Neuroectodermal Tumor
Abnormal superior cerebellar peduncle morphology, Weight loss, Torticollis, Somatic sensory dysfu... ORPHA:370348
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Dystonia, Impaired oral bolus formation, Cerebellar atrophy, Lingual dystonia, Chorea,... ORPHA:404454
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Spasticity, Stereotypy OMIM:610042
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Stereotypy ORPHA:228384
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Opisthotonus, Gliosis, Spastic tetraplegia, Hypertonia OMIM:252160
4Q21 Microdeletion Syndrome
Tremor, Cerebellar hypoplasia, Stereotypy ORPHA:238750
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Recurrent hand flapping OMIM:617268
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Stereotypy ORPHA:228402
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Lethargy, Stereotypy ORPHA:927
Gm1 Gangliosidosis
Dystonia, Gait disturbance, Failure to thrive, Weight loss, Abnormality of extrapyramidal motor f... ORPHA:354
Ritscher-Schinzel Syndrome 4
Athetosis, Dandy-Walker malformation, Dysphagia, High palate, Chorea, Stereotypy, Ataxia, Narrow ... OMIM:619435
Fatal Familial Insomnia
Ataxia, Weight loss, Myoclonus OMIM:600072
Liposarcoma
Weight loss, Paresthesia ORPHA:69078
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Cachexia, Oculomotor apraxia, Hypertonia, Hydrocephalus, Broad-based gait, Spastic par... ORPHA:2072
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Oculomotor apraxia, Hydrocephalus, Cerebellar hypoplasia OMIM:617822
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, High palate, Torticollis, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomotor a... ORPHA:300570
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Rett Syndrome
Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Gliosis OMIM:231680
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss, Myoclonus OMIM:256700
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Dysphagia ORPHA:26791
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Stereotypy, Narrow palate, Attention deficit hyperactivity diso... ORPHA:313892
Smith-Magenis Syndrome
Stereotypy, Hyperactivity, Velopharyngeal insufficiency, Impaired pain sensation OMIM:182290
Radio-Tartaglia Syndrome
High, narrow palate, Dysphagia, High palate, Gait imbalance, Stereotypy, Tremor, Ataxia, Attentio... OMIM:619312
Rhabdoid Tumor
Cerebral palsy, Weight loss, Hemiplegia ORPHA:69077
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Hypertonia, Decreased body weight, Attention deficit hyperactivity di... ORPHA:800
Wilson Disease
Clumsiness, Failure to thrive, Weight loss, Difficulty walking, Increased body weight ORPHA:905
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Dysphagia, Cerebellar atrophy, Cataplexy, Fasciculations, Stere... ORPHA:496641
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Cerebellar hypoplasia, Stereotypy ORPHA:500159
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Erdheim-Chester Disease
Ataxia, Weight loss, Abnormal cerebellum morphology ORPHA:35687
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Molybdenum Cofactor Deficiency, Complementation Group A
Myoclonic spasms, Opisthotonus, Gliosis, Spastic tetraplegia, Spastic tetraparesis OMIM:252150
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Cleft palate, Stereotypy, Ataxia, Attention deficit hypera... ORPHA:435638
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Spasti... OMIM:300352
Potocki-Lupski Syndrome
High palate, Stereotypy, Hyperactivity, Oral-pharyngeal dysphagia, Gastroesophageal reflux OMIM:610883
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Hemiplegia ORPHA:3217
Reynolds Syndrome
Xerostomia, Dysphagia, Gastroesophageal reflux, Abnormal gastric mucosa morphology ORPHA:779
Kohlschutter-Tonz Syndrome-Like
Lactose intolerance, Dysphagia, Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereoty... OMIM:619229
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Chorea, Tongue thrusting, Stereotypy, Apraxia, Spasticity, Gastroesophageal ... OMIM:613454
Niemann-Pick Disease, Type C2
Dystonia, Dysphagia, Cataplexy, Stereotypy, Ataxia, Spasticity OMIM:607625
Norrie Disease
Cachexia, Clonus, Failure to thrive, Stereotypy, Aplasia/Hypoplasia of the cerebellum, Hypertonia... ORPHA:649
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Ataxia, Stereotypy OMIM:619428
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, High palate, Upper limb spasticity, Gliosis, Lower limb spasticity, Spa... OMIM:300868
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Attention deficit hyperactivity disorder, Gastroesophageal reflux, Stereo... OMIM:619293
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Lower limb spasticity, Ataxia, Hyperactivity, Cerebellar vermis atrophy, Stereoty... ORPHA:163681
Camurati-Engelmann Disease
Ataxia, Cachexia, Slender build, Waddling gait ORPHA:1328
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Gait disturbance, Dysphagia, Cleft soft palate, Gliosis, Ataxia, Hypertonia, St... ORPHA:268261
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Stereotypy, Ataxia, Stereotypical body rocking, Hyperactivity, Stereotypic... OMIM:300912
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, High palate, Stereotypy ORPHA:3306
Follicular Lymphoma
Weight loss ORPHA:545
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Stereotypy OMIM:618825
Pleural Mesothelioma
Weight loss ORPHA:50251
Cri-Du-Chat Syndrome
High palate, Bifid uvula, Stereotypy, Hyperactivity, Hypertonia, Gastroesophageal reflux, Difficu... OMIM:123450
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Unilateral Polymicrogyria
Involuntary movements, Pseudobulbar paralysis, Myoclonus, Spastic tetraplegia, Hemiparesis, Poor ... ORPHA:268943
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Oromotor apraxia, Attention deficit hyperactivity disorder, Spast... ORPHA:391372
Mast Cell Sarcoma
Weight loss ORPHA:66661
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Choreoathetosis, Chorea, Stereotypy, Repetitive compulsive behavior, Ataxia, Hyperkinet... ORPHA:522077
Familial Colorectal Cancer Type X
Gait disturbance, Paresthesia, Weight loss, Hypertonia, Abnormal pyramidal sign, Attention defici... ORPHA:440437
Bilateral Perisylvian Polymicrogyria
Oromotor apraxia, Limb hypertonia, Pseudobulbar paralysis, Cerebellar dysplasia, Dysmetria, Lower... ORPHA:98889
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Malabsorption, Stereotypy ORPHA:213
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, High palate, Stereotypy, Ataxia, Unsteady gait, Submucous cleft hard palate ORPHA:457279
Non-Functioning Paraganglioma
Tremor, Weight loss, Vocal cord paralysis ORPHA:94080
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysphagia, Cerebellar atrophy, Dysmetria, Speech apraxia, Stereotypy, Ataxia, Cerebellar vermis h... OMIM:617330
Pfapa Syndrome
Weight loss ORPHA:42642
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Lynch Syndrome
Gait disturbance, Paresthesia, Weight loss, Hypertonia, Abnormal pyramidal sign, Attention defici... ORPHA:144
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Gait imbalance, Tongue thrusting, Broad-based gait, Protruding tongue ORPHA:98795
Bainbridge-Ropers Syndrome
High, narrow palate, Cerebellar vermis hypoplasia, Inability to walk, Hypertonia, Recurrent hand ... ORPHA:352577
Angelman Syndrome
Dysphagia, Myoclonus, Tongue thrusting, Protruding tongue, Tremor, Ataxia, Hyperactivity, Inabili... ORPHA:72
Marfan Syndrome
Meningocele, Cachexia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Cachexia ORPHA:647
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Stereotypy, Unilateral cleft palate, Attention deficit hyperactivity disorder... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Stereotypy OMIM:616351
Macrocephaly-Developmental Delay Syndrome
High palate, Stereotypy ORPHA:397612