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Gene: Cntn1 MGI:105980

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
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
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal... ORPHA:363717
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... OMIM:618369
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea... OMIM:607136
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... OMIM:615268
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis OMIM:143100
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Progres... ORPHA:248111
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myo... OMIM:225753
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea... ORPHA:300605
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of extrapy... OMIM:236792
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Christianson Syndrome
Cerebellar atrophy, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the cerebellum ORPHA:85278
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flappin... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, Bruxism, A... OMIM:619150
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Gliosis, Paralysis, Dysphagia OMIM:300857
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... OMIM:610357
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ata... OMIM:616230
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking, Dysphagia OMIM:619565
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Pick Disease Of Brain
Polyphagia, Gliosis, Inappropriate laughter, Disinhibition, Abnormal repetitive mannerisms OMIM:172700
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, Ba... OMIM:603218
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... OMIM:611302
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... OMIM:248900
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance ORPHA:98934
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia 12
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... OMIM:604326
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, High palate, Glio... OMIM:612936
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... OMIM:137440
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, High palate, Gait disturbance, Gliosis, Ab... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Abnormality of extrapyramidal motor... ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Dysesthesia, Rigidity, Unsteady gait, ... OMIM:614877
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Tremor, Inability to walk, Babinski sign, Blepharospasm, Hyperto... OMIM:128100
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradyk... OMIM:617435
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poor coordination, Limb atax... OMIM:617695
Developmental And Epileptic Encephalopathy 14
Spasticity, Gliosis, Clonus, Tetraplegia OMIM:614959
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, Neonatal death, Spasticity OMIM:618186
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations, Gliosis OMIM:604484
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... ORPHA:280210
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b... OMIM:618917
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extra... OMIM:277470
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... OMIM:600795
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Disinhib... OMIM:221770
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Riboflavin Transporter Deficiency
Tremor, Ataxia, Myoclonus, Cachexia ORPHA:97229
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Inappropria... ORPHA:275864
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Adducted Thumbs Syndrome
Myelin-dependent gliosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High p... OMIM:201550
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Gait ataxia, Choreo... ORPHA:225154
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Gliosis, Spasticity OMIM:615095
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Spasticity, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbance, Abnorma... ORPHA:216866
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb ataxia, Truncal a... OMIM:617560
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Gliosis OMIM:256600
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity ORPHA:168486
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Spasticity ORPHA:702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Cerebellar hypoplasia, Cerebellar... OMIM:613155
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Gliosis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation ORPHA:2047
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity OMIM:616801
Mulibrey Nanism
Cachexia ORPHA:2576
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Gai... OMIM:300957
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... ORPHA:225147
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Gastroesophageal reflux, Gliosis, Basal ganglia gl... ORPHA:79243
Pulmonary Blastoma
Weight loss ORPHA:64741
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Babinski sign, Sensory ataxia, Gait ataxia, Decreased body weight ORPHA:445062
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Spasticity, Abnormal repetitiv... OMIM:617820
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Moynahan Syndrome
Cachexia ORPHA:2574
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s... OMIM:603516
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... OMIM:611390
Hemimegalencephaly
Hemiparesis, Gliosis, Myoclonus ORPHA:99802
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dysphagia ORPHA:683
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... ORPHA:3095
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Unsteady gait, Gait disturbance, Gliosis OMIM:603896
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Weight loss, C... ORPHA:399
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dysphagia OMIM:304700
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Babinski sign, Spastic dysarthria, High palate, Difficulty wal... ORPHA:280763
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia ORPHA:52503
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, Myoclonus, D... ORPHA:561854
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ... OMIM:607485
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Rett Syndrome
Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity OMIM:312750
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga... ORPHA:98768
Primary Dystonia, Dyt13 Type
Torticollis, Postural tremor, Involuntary movements, Abnormal repetitive mannerisms, Action tremor ORPHA:98807
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia ORPHA:42
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 28
Cerebellar vermis hypoplasia, Truncal titubation, Abnormal pyramidal sign, Gait ataxia, Poor fine... OMIM:618800
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Isaacs Syndrome
Weight loss, Fasciculations, Distal sensory impairment ORPHA:84142
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Tuberculosis
Weight loss ORPHA:3389
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Inability to walk, Dysm... ORPHA:845
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Mcdonough Syndrome
Cachexia ORPHA:2471
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia ORPHA:139480
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Limb hypertonia OMIM:614498
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Gliosis, My... OMIM:619847
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... OMIM:616267
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Spasticity, Gastroesophageal reflux, Difficulty walking OMIM:617393
Leigh Syndrome
Spasticity, Ataxia, Gliosis OMIM:256000
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Bradykinesia, Agitation, Shuffling... ORPHA:411602
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Cachexia, Weight loss ORPHA:298
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:615960
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Spastic tetraplegia, Hyperesthesia ORPHA:371364
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti... OMIM:619092
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Abnormal r... OMIM:619317
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... ORPHA:2494
Idiopathic Achalasia
Weight loss ORPHA:930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Renpenning Syndrome
Cachexia ORPHA:3242
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism, Aggressive behavior OMIM:606688
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Decerebrate rigidi... ORPHA:206436
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to wal... OMIM:619580
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... OMIM:301029
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis ORPHA:98897
Whipple Disease
Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cereb... OMIM:613153
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Gastroesophageal reflux, Progressive spasticity, Dysphagia, Abnor... DECIPHER:45
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... ORPHA:3208
Lissencephaly, X-Linked, 2
Spasticity, High palate, Gliosis OMIM:300215
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Cerebellar hypoplasia, Gliosis, Spastic tetraplegia ORPHA:3240
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Gliosis, Cerebellar hypoplasia OMIM:214150
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Gliosis, Myoclonus OMIM:618321
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Upper limb spasticity, Tong... OMIM:617193
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Macroglossi... OMIM:248500
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetit... OMIM:614104
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia, Cachexia, Spasticity ORPHA:220295
Leigh Syndrome
Cerebellar atrophy, Abnormal dentate nucleus morphology, Ataxia, Involuntary movements, Chorea, G... ORPHA:506
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Basal ganglia gliosis, High palate, Gliosis OMIM:604377
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, High palate, Gait disturbance, ... OMIM:300986
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Hypertonia, Compulsive behaviors, ... ORPHA:352490
Trisomy 18
Cachexia, Spina bifida, Anencephaly, Chiari malformation, Hypertonia, Holoprosencephaly ORPHA:3380
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Tetrasomy 12P
Cachexia ORPHA:884
Glossopharyngeal Neuralgia
Chiari type I malformation, Dysesthesia, Vocal cord paralysis, Weight loss ORPHA:221098
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Spasticity, Gliosis OMIM:616239
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing ORPHA:71272
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinati... ORPHA:79264
X-Linked Intellectual Disability, Cabezas Type
Tremor, Broad-based gait, Obesity, Cachexia ORPHA:85293
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Gliosis, Gastroesophageal reflux, Cerebellar hypoplasia, Anal atresia ORPHA:261652
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Abnormal cerebellar peduncle mor... ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, Cerebellar hypoplasia, Bruxism, ... OMIM:618004
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Repetitiv... OMIM:300260
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Spastic gait, A... OMIM:619121
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Poor coordination, Poor fine mo... OMIM:620242
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, High palate, Attention deficit hyperactivity disorder, O... OMIM:618825
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Inability to wa... ORPHA:191
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated sup... OMIM:610688
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturban... ORPHA:168491
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... OMIM:609454
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykinesia, Falls, Gait... OMIM:601104
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Cerebellar vermis hypoplasia, Gait ataxia, Difficulty walking, Spasticity, Abno... OMIM:617807
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Basal ganglia gliosis, Gliosis, Myoclonus OMIM:614946
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... OMIM:300486
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Galloway-Mowat Syndrome 6
Cerebellar atrophy, High palate, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, C... OMIM:618347
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Gastroesophageal reflux, Gait disturbance, Abnormal repetiti... OMIM:301094
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Narrow palate, Athetosis, High palate, Cerebell... OMIM:619435
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Paresthesia, Eosinophilia, Weight loss ORPHA:3165
Acute Myelomonocytic Leukemia
Eosinophilia, Weight loss ORPHA:517
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait OMIM:168605
Chronic Hiccup
Weight loss ORPHA:396
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, High palate, Attention deficit hyperactivity disorder... OMIM:618342
Aredyld Syndrome
Cachexia ORPHA:1133
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Postural tremor, Ataxia, Babinski sign, Lower limb hypertonia, Gliosis, Myocl... OMIM:301072
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive OMIM:614857
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurious behavior, Gastro... ORPHA:208447
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Velopharyngeal insufficiency, Self hugging, Head-banging,... OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Lobulated tongue, Abnormal repetitive mannerisms, Dilated fourth ventricle OMIM:613443
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum, Ataxia ORPHA:65285
Wolman Disease
Cachexia ORPHA:75233
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... ORPHA:530983
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab... OMIM:600430
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal repe... ORPHA:572013
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme... OMIM:615273
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Gastroesophageal reflux, Tetraparesis ORPHA:85277
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Compulsive behaviors, Spasticity, ... OMIM:618430
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Abnormal repetitive mannerisms, Myoclonus ORPHA:411986
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build OMIM:603041
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dys... OMIM:617751
Primary Myelofibrosis
Cachexia ORPHA:824
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Somatic sensory dysfunction, Abnormal superior cerebellar peduncle morphology, Weigh... ORPHA:370348
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso... OMIM:620292
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms, Self-injurious behavior, High palate OMIM:615637
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Aggressive behavior, Narrow palate, Self-injurious behavior, Ga... ORPHA:313892
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Dysphagia, Volvulus, Abnormal repetitive mannerisms OMIM:617802
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Dysphagia ORPHA:26791
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Gastroesophageal reflux, High palate, Abnor... OMIM:616579
Molybdenum Cofactor Deficiency, Complementation Group B
Spastic tetraplegia, Opisthotonus, Hypertonia, Gliosis, Myoclonic spasms, Neonatal death OMIM:252160
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Pyloric stenosis, Cleft palate, Choreoathetosis, Chiari type I malformation, Gast... ORPHA:261197
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss ORPHA:79242
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Inability to walk, Chorea, Oculomotor apraxia, Athetosis, Hyperkinetic moveme... ORPHA:404454
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereoty... OMIM:300912
48,Xxyy Syndrome
Ataxia, Tremor, Cleft palate, Gastroesophageal reflux, Attention deficit hyperactivity disorder, ... ORPHA:10
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss OMIM:600072
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Xfe Progeroid Syndrome
Poor coordination, Failure to thrive, Cachexia OMIM:610965
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis OMIM:203700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia... ORPHA:2072
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Coffin-Siris Syndrome 6
High, narrow palate, Cleft palate, Gastroesophageal reflux, Tics, Attention deficit hyperactivity... OMIM:617808
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms, Agitation, Ataxia, Paraplegia ORPHA:927
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, High palate, Gastroesophag... OMIM:619312
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms, Cerebellar hypoplasia ORPHA:238750
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Ileus, Hypertonia, ... OMIM:300352
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms OMIM:618067
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Gliosis OMIM:231680
Gm1 Gangliosidosis
Ataxia, Tremor, Unsteady gait, Weight loss, Gait disturbance, Decerebrate rigidity, Abnormality o... ORPHA:354
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Erdheim-Chester Disease
Abnormal cerebellum morphology, Ataxia, Weight loss ORPHA:35687
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms OMIM:619877
Schwartz-Jampel Syndrome
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight ORPHA:800
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Falls, Gliosis, Difficulty walking OMIM:618222
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Wilson Disease
Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive ORPHA:905
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Self-mutilation, Hypertonia, Gastroesophageal reflux, High pa... OMIM:123450
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Vici Syndrome
Failure to thrive, Cerebellar vermis hypoplasia, Abnormal posturing OMIM:242840
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Bruxism, Athetosis, Gastroesophageal reflux, Apraxia, Spasticity, Abnor... OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, High palate, Compulsive... OMIM:617061
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Unsteady gait, High palate, Attention deficit hyperactivity dis... OMIM:618205
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms ORPHA:228384
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Gastroesophageal reflux, High palate, Abnormal repetiti... OMIM:610883
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, A... ORPHA:778
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia, Head tremor OMIM:619428
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, High palate, Abnormal repetitive mannerisms ORPHA:3306
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Cleft soft palate, Aggressive behavior, Pyloric stenosis, Hypertonia, G... ORPHA:268261
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia... ORPHA:300570
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Camurati-Engelmann Disease
Waddling gait, Slender build, Ataxia, Cachexia ORPHA:1328
Pleural Mesothelioma
Weight loss ORPHA:50251
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Bruxism, Abnorma... OMIM:616393
Follicular Lymphoma
Weight loss ORPHA:545
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Lower limb spasticity, Ataxia, Tremor, Inability to walk, Gastroesophageal r... OMIM:619229
3P25.3 Microdeletion Syndrome
Ataxia, High, narrow palate, Pyloric stenosis, Cleft palate, Attention deficit hyperactivity diso... ORPHA:435638
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Chiari malformation, Gastroesophageal reflux, Attention deficit hyperacti... OMIM:619293
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, Abnormal... OMIM:618027
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Dysphagia, Catap... ORPHA:496641
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Pyloric stenosis, Unsteady gait, Submucous cleft hard palate, High p... ORPHA:457279
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... OMIM:618914
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Gliosis, Myoclonic spasms OMIM:252150
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Gastroesophageal reflux, Abnormal te... ORPHA:449291
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hydrocephalus, Cerebellar dysplasia ORPHA:8
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Gliosis, Neonatal death, Spasticity OMIM:124000
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... ORPHA:98889
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Submucous cleft hard palate, Head-banging, Attention deficit hyperactivity di... OMIM:619103
Cystinosis
Malabsorption, Abnormal pyramidal sign, Gait disturbance, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, High, narrow palate, Abnormal repetitive mannerisms, Polyphagia, Bruxism, Gastroes... OMIM:615873
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Pfapa Syndrome
Weight loss ORPHA:42642
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Mast Cell Sarcoma
Weight loss ORPHA:66661
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms, Cerebellar hypoplasia, Cerebellar dysplasia ORPHA:500159
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... ORPHA:522077
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Cleft palate, Clumsiness, Compulsive behaviors, Attention deficit hyperactivity disorder,... OMIM:615656
Smith-Magenis Syndrome
Impaired pain sensation, Cleft palate, Self-injurious behavior, Gait disturbance, Gastroesophagea... ORPHA:819
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Abnormal pons morphology, Upper limb spasticity, High palate, Cerebellar h... OMIM:300868
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, High palate, Compulsive behaviors, Attention deficit hy... ORPHA:476126
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Babinski sign, Hypertonia, Inappropriate laughter, Spasticity, Abno... OMIM:615802
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
D-Bifunctional Protein Deficiency
Cerebellar atrophy, High palate, Gliosis OMIM:261515
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Tremor, Truncal ataxia, Dysmetria, Anteriorly placed anus, ... OMIM:220111
Lynch Syndrome
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu... ORPHA:144
Beta-Ketothiolase Deficiency
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss ORPHA:134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cerebellar dysplasia, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel... OMIM:613150
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Focal Myositis
Weight loss ORPHA:48918
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Cerebellar verm... OMIM:617330
Norrie Disease
Clonus, Cachexia, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Failure to thrive ORPHA:649
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Congenital Disorder Of Glycosylation, Type Iia
Protruding tongue, Aggressive behavior, Unsteady gait, Hypertonia, Cerebellar hypoplasia, Abnorma... OMIM:212066
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu... ORPHA:440437
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Weight loss OMIM:188580
Seckel Syndrome
Cachexia ORPHA:808
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
Takayasu Arteritis
Weight loss ORPHA:3287
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Immunodeficiency 27A
Weight loss OMIM:209950
Houge-Janssens Syndrome 3
Abnormal repetitive mannerisms, Self-injurious behavior, High palate, Attention deficit hyperacti... OMIM:618354
White-Sutton Syndrome
Abnormality of the gastrointestinal tract, Cerebellar atrophy, Hyperactivity, Incoordination, Agg... ORPHA:468678
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss ORPHA:93958
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Gait disturbance, Eosinophilia, Weight loss ORPHA:183
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, High palate, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Chromosome 5P13 Duplication Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, High palate, Compulsive behaviors OMIM:613174
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypert... OMIM:615846
Diets-Jongmans Syndrome
Attention deficit hyperactivity disorder, Gliosis, Aggressive behavior, Duodenal atresia OMIM:618846
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, High palate ORPHA:397612
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Ataxia, Hiatus hernia, Aggressive behavior, Unsteady gait, Poor ... OMIM:614756
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Cleft palate, Self-injurious behavior, Gastroe... OMIM:616364
Giant Cell Arteritis
Ataxia, Paresthesia, Weight loss ORPHA:397
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Weight loss ORPHA:2902
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Abnormal repetitive mannerisms ORPHA:529965
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... OMIM:619487
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Bainbridge-Ropers Syndrome
Intestinal malrotation, Inability to walk, Self-injurious behavior, Hypertonia, Gastroesophageal ... OMIM:615485
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity ORPHA:20
Gabriele-De Vries Syndrome
Waddling gait, Oral-pharyngeal dysphagia, Tremor, Esophageal atresia, High palate, Gliosis, Atten... ORPHA:506358
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Kaposi Sarcoma
Weight loss ORPHA:33276
Eosinophilic Gastroenteritis
Eosinophilia, Weight loss ORPHA:2070
Osteosarcoma
Weight loss ORPHA:668
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Leishmaniasis
Weight loss ORPHA:507
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repetitive mannerisms, C... ORPHA:1727
Marfan Syndrome
Meningocele, Slender build, Cachexia ORPHA:558
Chronic Beryllium Disease
Weight loss ORPHA:133
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, High, narrow palate, Hypertonia, High palate, Tics, Compulsive behaviors, Abnormal repeti... OMIM:619475
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Megalocornea-Intellectual Disability Syndrome
High palate, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Riddle Syndrome
Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination ORPHA:420741
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:620073
Pilarowski-Bjornsson Syndrome
Speech apraxia, Abnormal repetitive mannerisms OMIM:617682
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyperactivity disorder ORPHA:98784
Alveolar Echinococcosis
Hemiparesis, Ataxia, Eosinophilia, Weight loss ORPHA:284
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Bullous Pemphigoid
Weight loss ORPHA:703
Cap Polyposis
Weight loss ORPHA:160148
Polyarteritis Nodosa
Weight loss ORPHA:767
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Esophageal atresia, Unilateral vocal cord paralysis, Tracheoesop... OMIM:301030
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Hydroxykynureninuria
Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Kleefstra Syndrome 1
Protruding tongue, Aggressive behavior, Macroglossia, Gastroesophageal reflux, Compulsive behavio... OMIM:610253
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
2Q37 Microdeletion Syndrome
Pyloric stenosis, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compu... ORPHA:1001
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Gastroesophageal reflux, Myoclonus OMIM:300672
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Abnormal repetitive mannerisms, Gastroesophageal reflux ORPHA:261144
Pitt-Hopkins Syndrome
Incoordination, Gait ataxia, Self-injurious behavior, Gastroesophageal reflux, Abnormal repetitiv... OMIM:610954
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Spasticity, Abnormal repetitive mannerisms, Limb hype... ORPHA:457351
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Hypertonia, Gastroesophageal reflux, ... ORPHA:447997
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Oculopharyngodistal Myopathy 1
Tremor, Ataxia, Difficulty walking, Weight loss OMIM:164310
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal pyramidal s... ORPHA:468631
Developmental And Epileptic Encephalopathy 100
Protruding tongue, Chorea, Gait ataxia, Choreoathetosis, Gastroesophageal reflux, High palate, My... OMIM:619777
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Yao Syndrome
Weight loss OMIM:617321
Stickler Syndrome
Hemiplegia/hemiparesis, Slender build, Cachexia ORPHA:828
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Poems Syndrome
Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
Williams Syndrome
Colonic diverticula, Ataxia, Peptic ulcer, Involuntary movements, Malabsorption, Tremor, Abnormal... ORPHA:904
Kleefstra Syndrome
Aggressive behavior, Pyloric stenosis, Macroglossia, Self-injurious behavior, Gastroesophageal re... ORPHA:261494
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Head-banging, Hematochezia, Self-injurious behavior, Chiari type I malformat... OMIM:619575
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Failure to thrive, Ataxia, Weight loss ORPHA:99885
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Nephroblastoma
Weight loss ORPHA:654
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Pemphigus Vulgaris
Weight loss ORPHA:704
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Malabsorption, Gastric ulcer, Polydipsia ORPHA:3463
Simple Cryoglobulinemia
Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Weight loss ORPHA:139402
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Hypoplasia of the pons, Self-injurious behavior, High palate, Cerebellar hypoplasi... OMIM:619512
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Felty Syndrome
Weight loss ORPHA:47612
Rheumatoid Arthritis
Weight loss OMIM:180300
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Short Syndrome
Weight loss ORPHA:3163
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Cystic Echinococcosis
Eosinophilia, Weight loss ORPHA:400
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Refractory Celiac Disease
Weight loss ORPHA:398063
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Cleft palate, Gait ataxia, Stereotypical body r... ORPHA:513456
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Late-Onset Isolated Acth Deficiency
Failure to thrive, Eosinophilia, Weight loss ORPHA:199299
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Pneumocystosis
Weight loss ORPHA:723
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, High palate, Attention deficit hyperactivity disorder, Abnormal repetiti... OMIM:619005
Behçet Disease
Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait disturbance ORPHA:117
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Kinsship Syndrome
Spastic tetraparesis, Ankyloglossia, Gastroesophageal reflux, Myoclonus, Bruxism, Abnormal repeti... OMIM:619297
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Prader-Willi Syndrome Due To Translocation
Cleft palate, Head-banging, High palate, Attention deficit hyperactivity disorder, Compulsive beh... ORPHA:177907
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Unsteady gait, Gastroesophageal reflux, Loss of ambulation... OMIM:616682
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Proteus Syndrome
Cachexia ORPHA:744
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Weight loss ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Cerebellar vermis hypoplasia, Aggressive behav... OMIM:620330
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Macroglossia, Gastroesophageal reflux, Spasticity, Abnormal repetitive mannerisms OMIM:301040
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia ORPHA:75565
Thymoma
Weight loss ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Budd-Chiari Syndrome
Weight loss ORPHA:131
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Pyloric stenosis, Gastroesophageal reflux, Gait disturbance, Abnormal repetitive m... ORPHA:464306
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Nmda Receptor Encephalitis
Involuntary movements, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoathetosis, Agitation... ORPHA:217253
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Multiple Myeloma
Paresthesia, Weight loss ORPHA:29073
Al Amyloidosis
Weight loss ORPHA:85443
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, High palate, Dysphagia, Abnormal rep... ORPHA:319182
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Gait disturbance, Attention deficit hyperactivity disorder, Abnormal rep... ORPHA:464311
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Klatskin Tumor
Weight loss ORPHA:99978
Polycythemia Vera
Weight loss ORPHA:729
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Abnormal repetitive mannerisms, High palate, Difficulty walking OMIM:618653
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353281
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Brucellosis
Chorea, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Q Fever
Weight loss ORPHA:781
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Caroli Disease
Weight loss ORPHA:53035
1P36 Deletion Syndrome
Pyloric stenosis, Hemiplegia/hemiparesis, Polyphagia, Self-injurious behavior, Gastroesophageal r... ORPHA:1606
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Arboleda-Tham Syndrome
Intestinal malrotation, Cleft palate, Lower limb hypertonia, Gastroesophageal reflux, Gait imbala... OMIM:616268
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Weight loss ORPHA:171
Fanconi Anemia
Hydrocephalus, Spina bifida, Weight loss ORPHA:84
Oculocerebrorenal Syndrome Of Lowe
Clonus, Malabsorption, Narrow palate, Self-injurious behavior, Gastroesophageal reflux, Attention... ORPHA:534
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Castleman Disease
Weight loss ORPHA:160
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis, Weight loss ORPHA:91347
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, Cleft palate, Aggressive behavior OMIM:301066
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Macroglossia, Abnormal temper tantrums, Abnormal... ORPHA:580
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Aggressive behavior, Cleft palate, Gait ataxia, Gastric u... OMIM:135900
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Spastic diplegia, High palate, Abnormal repetitive mannerisms OMIM:309590
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353277
Immunodeficiency 31C
Weight loss OMIM:614162
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Coffin-Siris Syndrome 12
Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Enlarged cerebellum, C... OMIM:619325
Dermatomyositis
Abnormal eosinophil morphology, Weight loss ORPHA:221
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Ogden Syndrome
Torticollis, Narrow palate, Hypertonia, High palate, Dysphagia, Abnormal repetitive mannerisms OMIM:300855
Pyomyositis
Weight loss ORPHA:764
Rat-Bite Fever
Weight loss ORPHA:31205
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypopla... ORPHA:261537
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Pancreatoblastoma
Weight loss ORPHA:677
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Tropical Pancreatitis
Weight loss ORPHA:103918
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Cleft palate, Hypertonia, Gastroesophageal reflux, Abnormal repetitive mann... OMIM:301044
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Reactive Arthritis
Weight loss ORPHA:29207
Mowat-Wilson Syndrome
Broad-based gait, Agenesis of cerebellar vermis, Ataxia, Aganglionic megacolon, Cerebellar vermis... ORPHA:2152
Ppoma
Weight loss ORPHA:97278
Malt Lymphoma
Weight loss ORPHA:52417
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Glucagonoma
Weight loss ORPHA:97280
Postinfectious Vasculitis
Weight loss ORPHA:48435
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypopla... ORPHA:261552
Igg4-Related Kidney Disease
Eosinophilia, Weight loss ORPHA:449395
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Self-injurious behavior, High palate, Abnormal repetitive mannerisms, Bifid uvula OMIM:612474
Nocardiosis
Weight loss ORPHA:31204
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, High palate, Tics, Attention ... OMIM:259050
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased eosinophil count ORPHA:99889
Sarcoidosis
Eosinophilia, Weight loss ORPHA:797
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms, Malrotation of small bowel, Gastroesophageal reflux, Cleft palate OMIM:194190
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, High palate, Attention deficit hyperactivity disorder, Dysphagia, A... OMIM:619522
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Goodpasture Syndrome
Weight loss OMIM:233450
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cntn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cntn1.

No publications found that use IMPC mice or data for Cntn1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cntn1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cntn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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