Gene Summary

Name:
SH3 and multiple ankyrin repeat domains 3
Synonyms:
ProSAP2

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Shank3 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 Shank3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Shank3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Persistent Idiopathic Facial Pain
Depression, Anxiety, Somatic sensory dysfunction, Paresthesia, Impaired pain sensation ORPHA:398147
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Autism
Motor stereotypy, EEG abnormality, Seizure OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality, Seizure OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality, Seizure OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality, Seizure OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality, Seizure OMIM:608636
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Cho... OMIM:619150
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Gait ataxia OMIM:618221
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Chorea, Weight loss, Dystonia, Irritabi... OMIM:606438
Posterior Cortical Atrophy
Photophobia, Ataxia, Color vision defect, Anxiety, Abnormality of vision, Memory impairment, Cere... ORPHA:54247
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, EEG with focal epileptiform discharges, Depression, Epileptic spas... ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Depression, Truncal ataxia, Memory impairment, Gait disturban... ORPHA:98764
Pick Disease Of Brain
Motor stereotypy, Apathy, Emotional blunting, Disinhibition, Inappropriate laughter, Diminished m... OMIM:172700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... ORPHA:401901
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... OMIM:617820
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... ORPHA:36899
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure OMIM:619561
Hyperprolinemia, Type I
Status epilepticus, Motor stereotypy, Ataxia, EEG abnormality, Aggressive behavior, Seizure OMIM:239500
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Inappropriate behavior, EEG with contin... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Self-injurious behavior, Convulsive status epilepticus, Stereotypical hand wring... OMIM:618760
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Impairment in personality functioning, Depression, Abnormalit... ORPHA:306682
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Chorea ORPHA:494541
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor OMIM:159900
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... OMIM:616341
Developmental And Epileptic Encephalopathy 58
Status epilepticus, Motor stereotypy, Spastic diplegia, Hypsarrhythmia, Seizure OMIM:617830
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, I... OMIM:616657
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Frontotemporal dementia, Myoclonus, Babinski sign, Rigidity, Inappropri... OMIM:600795
Spinocerebellar Ataxia 21
Apathy, Ataxia, Progressive cerebellar ataxia, Impulsivity, Limb ataxia, Akinesia, Intention trem... OMIM:607454
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure, Paroxysmal choreo... OMIM:602066
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Poor eye contact, Inappropriate crying, Cognitive impairment... ORPHA:561854
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Reduced visual acuity, Ataxia, Anxiety OMIM:618970
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deteriorat... ORPHA:412066
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Unsteady gait OMIM:603218
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Kufor-Rakeb Syndrome
Torticollis, Paraparesis, Ataxia, Akinesia, Bradykinesia, Parkinsonism with favorable response to... OMIM:606693
Schizophrenia 15
Hyperactivity OMIM:613950
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Clonic seizure, Self-injurious behavior, Polymicrogyria, Spastic te... OMIM:615282
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... ORPHA:248111
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Seizure OMIM:617787
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Emotional lability, Slurred speech, At... ORPHA:98818
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Perry Syndrome
Apathy, Akinesia, Bradykinesia, Frontotemporal dementia, Depression, Anxiety, Parkinsonism, Inapp... OMIM:168605
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Atypical Rett Syndrome
Inability to walk, Hand apraxia, Tongue thrusting, Tremor, Spasticity, Impaired social interactio... ORPHA:3095
Huntington Disease
Gait imbalance, Bradyphrenia, Apathy, Inability to walk, Bradykinesia, Mental deterioration, Depr... ORPHA:399
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Tremor, Unsteady gait, Emotional lability, Dystonia OMIM:128235
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Obe... OMIM:614947
Dopa-Responsive Dystonia
Arm dystonia, Agoraphobia, Leg dystonia, Inability to walk, Abnormal social behavior, Depression,... ORPHA:255
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, EEG abnormality, Action tremor, EEG with polyspi... OMIM:617665
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions, Inability to walk OMIM:606053
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Depression, Men... OMIM:605361
N-Acetylaspartate Deficiency
Motor stereotypy, Short stature, Self-mutilation, Truncal ataxia, Unsteady gait OMIM:614063
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Poor eye contact, Tremor, Aggressive behavior, Spasticity OMIM:300983
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Gait imbalance, Broad-based gait, Poor eye contact, Tip-toe gait, Gait ataxia, Aggressive behavio... ORPHA:468620
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tr... OMIM:615924
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Usher Syndrome, Type Iiib
Photophobia, Ataxia, Visual impairment, Truncal ataxia OMIM:614504
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Neuromuscular dysphagia, Akinesia, Axial dystonia, Blepharospasm, Impulsivity, Br... ORPHA:240071
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability OMIM:612069
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes ... OMIM:619317
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Blind-spot enlargment, Central s... OMIM:616732
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Hypsarrhythmia, Seizure, Irritability ORPHA:500545
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Craniofacial dystonia, Gait ataxi... ORPHA:71517
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality, Seizure OMIM:300495
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Aggressive b... OMIM:309548
Narcolepsy Type 1
Transient global amnesia, Cataplexy, Obesity, Slurred speech ORPHA:2073
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Short stature OMIM:617862
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Poor eye contact, Motor stereotypy, ... OMIM:617695
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Retinitis Pigmentosa 81
Pallor OMIM:617871
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Motor stereotypy, Seizure OMIM:618709
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Clonic seizure, Tonic seizure, Seizure OMIM:620033
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity, Irritability, Seizure OMIM:617393
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Seizure OMIM:300271
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Blepharospasm, Loss of ambulation, Falls, Spastic dys... ORPHA:240094
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Short st... ORPHA:3077
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Babinski sign, Parkinsonism, Chorea... OMIM:618093
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abn... ORPHA:98773
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... ORPHA:309246
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Dystonia OMIM:605909
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, EEG w... ORPHA:36387
Postencephalitic Parkinsonism
Happy demeanor, Akinesia, Bradykinesia, Resting tremor, Depression, Tremor by anatomical site, Oc... ORPHA:97349
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Motor stereotypy, Increased theta frequency activity in EEG, Depression, A... ORPHA:98784
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity ORPHA:356996
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Self-injurious behavior, Tonic seizure, Stereotypical hand wrin... OMIM:618917
Idiopathic Intracranial Hypertension
Photophobia, Diplopia, Abnormal emotion/affect behavior, Blurred vision, Visual loss, Scintillati... ORPHA:238624
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Self-injurious behavior, Tremor, Spasticity, Seizure, Paroxysm... OMIM:618718
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Impulsivity, Generalized myoclonic ... ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Poor gross motor coordination, Dysmetria, Clumsiness, M... ORPHA:228360
Hereditary Late-Onset Parkinson Disease
Apathy, Akinesia, Impulsivity, Bradykinesia, Resting tremor, Parkinsonism with favorable response... ORPHA:411602
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Reduced visual acuity, Visual impairment, Myopia OMIM:303700
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Limb ataxia, Mental deterioration, Thalamic calcification, Limb dystonia, Cerebella... OMIM:618824
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior OMIM:609425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Growth delay, Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Spasticity, Oc... OMIM:612716
Tritanopia
Photophobia, Reduced visual acuity, Color vision test abnormality, Tritanomaly ORPHA:88629
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Abnormality of extrapyramidal motor function, Cho... ORPHA:382
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Spasticity, Generalized myoclonic seizure, EEG with generalized ... ORPHA:168491
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Clinodactyly of the 5th finger, Dysplastic corpus callosum, Aggressive behavior... OMIM:618010
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Blurred vision, Visual impairment OMIM:204870
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Anxiety, Poor eye contact, Dystonia OMIM:619651
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Short stature, Babinski sign, Spastic dysarthria, Difficulty walking, Progressi... ORPHA:280763
Mohr-Tranebjaerg Syndrome
Photophobia, Constriction of peripheral visual field, Mental deterioration, Reduced visual acuity... OMIM:304700
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Cognitive impairment, Oculomotor apraxia, Somatic sensory dysfunction, Obesity, Dystonia ORPHA:459033
Achromatopsia 4
Photophobia, Visual impairment, Achromatopsia OMIM:613856
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability OMIM:615006
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Hyperactivity, Abnormality of extrapyramidal motor function, Limb... ORPHA:500180
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Mental deterioration, Ankl... OMIM:604360
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
EEG abnormality, Memory impairment, T2 hypointense thalamus, Gait disturbance, Disinhibition, Dem... OMIM:618193
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Dyschromatopsia OMIM:618977
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Myoclonus, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Cognitive impairment, EEG with generalized epileptiform discharges, EE... ORPHA:1947
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Photophobia, Congenital stationary night blindness, Visual impairment, Color vision defect OMIM:610427
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Cognitive impairment, Depression, Spastic paraparesis, Dysdiadoc... OMIM:615157
Cone-Rod Dystrophy 13
Photophobia, Reduced visual acuity, Visual impairment, Color vision defect OMIM:608194
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Cdkl5-Deficiency Disorder
Growth delay, Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking... ORPHA:505652
Optic Atrophy 6
Photophobia, Visual impairment, Red-green dyschromatopsia OMIM:258500
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Aggressive behavior,... OMIM:610042
Progressive Supranuclear Palsy
Impulsivity, Bradykinesia, Blepharospasm, Cognitive impairment, Depression, Memory impairment, Fa... ORPHA:683
Aceruloplasminemia
Torticollis, Apathy, Ataxia, Blepharospasm, Akinesia, Limb ataxia, Cognitive impairment, Parkinso... ORPHA:48818
Achromatopsia 7
Photophobia, Reduced visual acuity, Central scotoma, Achromatopsia OMIM:616517
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Color vision defect, Reduced visual ac... ORPHA:49382
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Mental deterioration, Babinski sign, Tremor, Spasticity, Dystonia, Hyperactivity, Depress... OMIM:234200
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Metamorphopsia, Visual impairment OMIM:608161
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Impulsivity, Bradykinesia, Cognitive impairment, Depression, Hyposmia, An... ORPHA:2828
Cone-Rod Dystrophy 17
Photophobia, Central scotoma, Visual impairment OMIM:615163
Glycine Encephalopathy
Hyperactivity, Impulsivity, Irritability, Myoclonus, Aggressive behavior, Death in infancy, Lethargy OMIM:605899
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Abnormal cerebellar vermis morphology, Genu valgum, Emotional lability, Impair... ORPHA:300570
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Progressive visual loss OMIM:602093
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Visual impairment, Myopia OMIM:304020
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Bradykinesia, Clumsiness, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Progressive Cone Dystrophy
Photophobia, Visual impairment, Color vision defect ORPHA:1871
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... ORPHA:79264
Chilblain Lupus 1
Skin ulcer OMIM:610448
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability OMIM:619717
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior OMIM:613670
Retinal Cone Dystrophy 1
Photophobia, Progressive visual loss, Color vision defect OMIM:180020
Blue Cone Monochromatism
Photophobia, Visual impairment, Blue cone monochromacy ORPHA:16
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... OMIM:617807
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Depression,... OMIM:300623
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Depression, Death in childhood, Anxiety, Progressive spastic... DECIPHER:45
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Short stature, Birth length less than 3r... OMIM:614104
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Self-injurious ... ORPHA:178469
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Cone Rod Dystrophy
Photophobia, Visual impairment, Nyctalopia, Color vision defect ORPHA:1872
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Dysplasti... ORPHA:557003
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Ataxia, Inability to walk, Waddling gait, Obesity, Lower limb spasticity, Dystonia OMIM:616756
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Impulsivity, Hemiparesis, Aggressive behavior, Spastic tetraparesis OMIM:604317
Supranuclear Palsy, Progressive, 2
Gait imbalance, Frontolimbic dementia, Apathy, Axial dystonia, Akinesia, Bradykinesia, Retrocolli... OMIM:609454
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Truncal ataxia, Death in early adulthood, Gait... ORPHA:85278
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Self-mutilation, Bilateral tonic-clonic seizure with... ORPHA:163681
Neuroferritinopathy
Leg dystonia, Bradykinesia, Blepharospasm, Resting tremor, Cognitive impairment, Focal dystonia, ... ORPHA:157846
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Hemiparesis, Memory impairm... ORPHA:1929
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Hyposmia, Intention tremor, Abnormal motor neuron morphology, Head tremor, Abnormali... OMIM:613724
Autism, Susceptibility To, 3
Motor stereotypy, EEG abnormality, Seizure OMIM:608049
Mucolipidosis Iv
Photophobia, Visual impairment, Progressive neurologic deterioration OMIM:252650
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Mild myopia, Nyctalopia OMIM:617024
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Bardet-Biedl Syndrome 10
Obesity, Cognitive impairment OMIM:615987
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Episodic Ataxia Type 6
Photophobia, Reduced visual acuity, Ataxia, Diplopia ORPHA:209967
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Short stature, Anxiety, Hyperkinetic movements, Ga... ORPHA:457240
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Rigidity, ... OMIM:616840
Leber Congenital Amaurosis 16
Photophobia, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:614186
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Mental deterioration, Abnormal non... ORPHA:268947
Supranuclear Palsy, Progressive, 1
Gait imbalance, Frontolimbic dementia, Apathy, Axial dystonia, Akinesia, Bradykinesia, Retrocolli... OMIM:601104
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Color vision defect OMIM:600852
11Q22.2Q22.3 Microdeletion Syndrome
Clinodactyly of the 5th finger, Poor eye contact, Abnormal social behavior, Small hand, Depressed... ORPHA:444002
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Macular Dystrophy, Patterned, 1
Photophobia, Metamorphopsia, Nyctalopia OMIM:169150
Retinitis Pigmentosa 37
Photophobia, Red-green dyschromatopsia, Nyctalopia, Tritanomaly OMIM:611131
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity OMIM:610381
Cone-Rod Dystrophy 22
Photophobia, Reduced visual acuity OMIM:619531
X-Linked Adrenoleukodystrophy
Paraparesis, Inappropriate sexual behavior, Hyperactivity, Clumsiness, Cognitive impairment, Hemi... ORPHA:43
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Semantic dementia, Myoclonus, Parkinsonism, Memory ... ORPHA:1020
Infantile Neuroaxonal Dystrophy
Ataxia, Impulsivity, Hyperactivity, Mental deterioration, Abnormal pyramidal sign, Gait disturban... ORPHA:35069
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Generalized tonic seizure, Myoclonus, Epileptic spasm, Stereotypical hand wringing, F... ORPHA:289266
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Cone-Rod Dystrophy 21
Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Abnormality of thalamus morphology, Difficulty walking, Cognitive impairment ORPHA:397725
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Self-injurious ... ORPHA:208447
Albinism, Oculocutaneous, Type Vii
Photophobia OMIM:615179
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Constriction of peripheral visual field, Color vision defect, Progressiv... OMIM:613660
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Childhood Absence Epilepsy
Typical absence seizure, Depression, Anxiety, Low self esteem, Limb myoclonus, EEG with spike-wav... ORPHA:64280
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Bradykinesia, Hyperactivity, Inappropriate behavior, Memory impairment, ... OMIM:619827
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity OMIM:617113
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Recurrent hand flapping... OMIM:619580
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Impulsivity, Bradykinesia, Dysmetria, Hyperactivity, Intention tremor, Mental deterio... OMIM:610217
Infantile Krabbe Disease
Photophobia, Failure to thrive, Mental deterioration, Cachexia, Progressive neurologic deteriorat... ORPHA:206436
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Atypical absence seizure, Ataxia, Focal impaired awareness seizure, Continuous ... OMIM:619428
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Myoclonus, Ab... ORPHA:363400
Oligocone Trichromacy
Photophobia ORPHA:75378
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Short stature, Polyphagia, Grow... ORPHA:228402
Hartnup Disease
Photophobia, Ataxia, Anxiety, Emotional lability, Abnormality of vision ORPHA:2116
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma, Visual impairment, Myopia OMIM:300476
Jalili Syndrome
Photophobia, Monochromacy, Nyctalopia OMIM:217080
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Abnormal eating behavior, Gait disturbance, T... ORPHA:544254
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Myoclonus, Anx... ORPHA:485350
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Progressive neurologic deterioration, Lethargy ORPHA:276608
Retinal Cone Dystrophy 3B
Photophobia, Scotoma, Nyctalopia, Myopia OMIM:610356
Adenylosuccinase Deficiency
Happy demeanor, Growth delay, Inability to walk, Hyperactivity, Poor eye contact, Opisthotonus, S... OMIM:103050
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Cognitive impairment, Cerebellar edema, EEG with generalized epile... ORPHA:363558
Leber Congenital Amaurosis 14
Photophobia, Reduced visual acuity, Nyctalopia, Congenital blindness OMIM:613341
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior, Myoclonic seizure OMIM:619690
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Sensorineural hearing impairment, Ectrodactyly, Hyposmia, Anosmia, Choanal atresia, Clinodactyly,... OMIM:147950
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure,... OMIM:619877
Retinal Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Constriction of peripheral visual field OMIM:610478
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity OMIM:613826
Achromatopsia 3
Photophobia, High myopia, Monochromacy, Dyschromatopsia, Achromatopsia, Severely reduced visual a... OMIM:262300
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Choreoacanthocytosis
Progressive choreoathetosis, Anxiety, Parkinsonism, Disinhibition, Self-mutilation of tongue and ... OMIM:200150
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Lack of peer re... ORPHA:1942
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Gai... ORPHA:93952
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... ORPHA:309263
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Cone-Rod Dystrophy 16
Photophobia, Reduced visual acuity, Progressive visual loss, Nyctalopia OMIM:614500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Photophobia, Gait ataxia ORPHA:438134
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Anxiety, ... OMIM:617600
Episodic Ataxia, Type 6
Photophobia, Truncal ataxia, Diplopia, Episodic ataxia OMIM:612656
Retinitis Pigmentosa 79
Photophobia, Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:617460
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Nyctalopia, Reduced visual acuity, Visual impairment OMIM:611040
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal cerebellar cortex morphology, Cognitive impairment, Depression, Impaired vibratory sensa... ORPHA:70595
Buerger Disease
Skin ulcer ORPHA:36258
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, My... ORPHA:411986
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Leber Congenital Amaurosis 2
Photophobia, Reduced visual acuity, Blindness, Nyctalopia OMIM:204100
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Self-injurious behavior, Anxiety, Bilateral tonic-clonic seizure, Generalized-o... OMIM:615637
Retinitis Pigmentosa
Photophobia, Visual impairment, Progressive night blindness, Obesity, Blindness ORPHA:791
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Hyperkinetic movements, Aggressive behavior OMIM:271980
Spinocerebellar Ataxia Type 7
Photophobia, Hemeralopia, Ataxia, Failure to thrive, Dysmetria, Mental deterioration, Reduced vis... ORPHA:94147
Tonne-Kalscheuer Syndrome
Broad-based gait, Self-injurious behavior, Short stature, Anxiety, Tremor, Aggressive behavior, S... OMIM:300978
Retinitis Pigmentosa 32
Photophobia, Reduced visual acuity, Nyctalopia OMIM:609913
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Postorgasmic Illness Syndrome
Photophobia, Blurred vision, Irritability ORPHA:279947
Retinitis Pigmentosa 3
Photophobia, Ring scotoma, Nyctalopia, Constriction of peripheral visual field, Color vision defe... OMIM:300029
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional lability, Lethargy ORPHA:927
Acute Disseminated Encephalomyelitis
EEG with focal spikes, Abnormal cerebellum morphology, Ataxia, Irritability, Mental deterioration... ORPHA:83597
Cach Syndrome
Apathy, Cerebellar vermis atrophy, Abnormal pons morphology, Limb ataxia, Cognitive impairment, D... ORPHA:135
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pica, Anxiety, Pronoun reve... OMIM:615032
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Acral ulceration, Skin ulcer, Impair... ORPHA:139578
Mehmo Syndrome
Inability to walk, Small for gestational age, Babinski sign, Difficulty walking, Gait ataxia, Spa... OMIM:300148
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, EEG abnormality, Talipes equinov... ORPHA:79139
Irvan Syndrome
Photophobia, Reduced visual acuity, Blurred vision, Vitreous floaters ORPHA:209943
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping, Spasticity, Seizure OMIM:618859
Oculopharyngodistal Myopathy 3
Photophobia, Ataxia OMIM:619473
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Apathy, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spa... OMIM:272750
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping, Infantile spasms, Hypsarrhythmia, Seizure OMIM:618916
Lyme Disease
Paresthesia, Amaurosis fugax, Memory impairment, Photophobia ORPHA:91546
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Limb hypertonia, Bab... OMIM:608643
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Leber Congenital Amaurosis 1
Photophobia, Reduced visual acuity, Blindness, Nyctalopia OMIM:204000
Superficial Siderosis
Ataxia, Limb ataxia, Cognitive impairment, Dysmetria, Dysdiadochokinesis, Abnormal cerebellar ver... ORPHA:247245
Tay-Sachs Disease
Inability to walk, Clumsiness, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Depre... ORPHA:845
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Hypertonia, Motor stereotypy, Short stature, Gait disturbance, Speech apraxia, ... OMIM:300352
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hypoplasia of the pons, Abnormality of the anterior commiss... OMIM:617542
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Self-injurious behavior, Recurrent hand flapping, Seizure OMIM:617268
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Inability to walk, Poor eye contact, Depression, An... OMIM:300260
Mohr-Tranebjaerg Syndrome
Photophobia, Mental deterioration, Color vision defect, Visual loss, Central scotoma, Cerebral vi... ORPHA:52368
Birdshot Chorioretinopathy
Photophobia, Blurred vision, Visual loss, Blind-spot enlargment, Vitreous floaters, Arcuate scotoma ORPHA:179
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Myoc... OMIM:619092
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Self-injurious behavior, Anxiety, Seizure, EEG with generalized slow activity ORPHA:397612
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Mild postnatal growth retardation, Abnormal social behav... ORPHA:530983
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Hyperactivity, Recurrent hand flapping,... ORPHA:98794
Trichotillomania
Hair-pulling OMIM:613229
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Dyschromatopsia OMIM:610024
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Microhydranencephaly
Poor eye contact, Talipes equinovarus, Self-mutilation, Cerebellar hypoplasia, Athetosis, Macroti... OMIM:605013
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Loss of ambulation, Distal sensory impairment, Unsteady gait, Obesity, Impaired pain sens... OMIM:618124
Boucher-Neuhauser Syndrome
Photophobia, Progressive visual loss, Ataxia, Gait ataxia OMIM:215470
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Hyperactivity, Poor eye contact, Recurrent hand flapping, Stereotypical... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... OMIM:300986
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Depression, Myoclonus, Anxiety OMIM:616398
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity, Aggressive behavior, Short stature OMIM:615541
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... ORPHA:309256
Hydrolethalus
Abnormality of the sense of smell, Micromelia, Low-set, posteriorly rotated ears, Postaxial hand ... ORPHA:2189
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hypertonia, Hyperactivity, Tics, Unsteady gait OMIM:617865
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Hyperactivity, Short stature, Tremor, Attention deficit hyperactivity disorder,... OMIM:618342
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Rett Syndrome, Congenital Variant
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... OMIM:613454
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Beta-Thalassemia
Skin ulcer, Pallor, Irritability ORPHA:848
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Cognitive impairment, Hyposmia, Brachydactyl... OMIM:615994
Choreoacanthocytosis
Laryngeal dystonia, Mental deterioration, Chorea, Falls, Limb dystonia, Emotional lability, Slurr... ORPHA:2388
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Neovascular Glaucoma
Photophobia, Visual loss, Visual acuity test abnormality ORPHA:94058
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Poor eye contact OMIM:613886
Flynn-Aird Syndrome
Ataxia, EEG abnormality, Skin ulcer, Impaired pain sensation, Progressive sensorineural hearing i... ORPHA:2047
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder ORPHA:10
Gaucher Disease, Perinatal Lethal
Akinesia, Apathy, Opisthotonus, Progressive neurologic deterioration, Neonatal death, Dysphagia, ... OMIM:608013
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Distal Xq28 Microduplication Syndrome
Impulsivity, Poor eye contact, Tip-toe gait, Stereotypical body rocking, Depression, Short statur... ORPHA:293939
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Short stature, Tremor, Gait ataxia, Aggressive behavior, Delayed puberty, Emotiona... OMIM:300354
Bardet-Biedl Syndrome 19
Polydactyly, Hyposmia OMIM:615996
Tay-Sachs Disease
Hypertonia, Apathy, Exaggerated startle response, Psychomotor deterioration, Dementia OMIM:272800
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Hyperactivi... ORPHA:72
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615271
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Hyperactivity, Poor eye contact, Recurrent hand flappi... ORPHA:449291
Meningococcal Meningitis
Paresthesia, Irritability, Photophobia ORPHA:33475
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Limb dystonia,... ORPHA:646
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Pain insensitivity, Inability to walk, Impaired distal tactile sensation, Trophic... ORPHA:36386
Rett Syndrome
Gait apraxia, Cachexia, Truncal ataxia, Stereotypical hand wringing, Motor deterioration, Gait at... OMIM:312750
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Dysmetria, Babinski sign, Clonus, Aggressive behavior, Unsteady gait, Spasticity OMIM:617773
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... OMIM:608553
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Inability to walk, Dystonia OMIM:618646
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Sho... OMIM:601853
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Growth delay, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyper... OMIM:619121
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Visual impairment OMIM:613464
Dracunculiasis
Skin ulcer ORPHA:231
Sjögren-Larsson Syndrome
Photophobia, Myopia ORPHA:816
Microphthalmia-Brain Atrophy Syndrome
Generalized myoclonic seizure, Inappropriate crying, Tongue thrusting, Generalized-onset seizure,... ORPHA:77299
Paternal Uniparental Disomy Of Chromosome 1
Photophobia, Pain insensitivity, Progressive psychomotor deterioration, Progressive visual loss, ... ORPHA:251004
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Hyperactivity, S... OMIM:123450
Meningioma
Abnormal cerebellum morphology, Ataxia, Enlarged pituitary gland, Reduced circulating prolactin c... ORPHA:2495
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Hyperactivity, Self-mutilation, Short stature, Chorea, Athetosis, Dystonia ORPHA:52503
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Tongue thrusti... ORPHA:411511
Radio-Tartaglia Syndrome
Gait imbalance, Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Attention defici... OMIM:619312
Classic Mycosis Fungoides
Skin ulcer, Erythema, Dry skin ORPHA:2584
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Hyposmia, Painless fractures due to injury, Paresthesia, Impaired propriocept... OMIM:243000
Septo-Optic Dysplasia Spectrum
Sensorineural hearing impairment, Dry skin, Aplasia/Hypoplasia of the cerebellum, Anosmia, Agenes... ORPHA:3157
Leigh Syndrome
Sensorineural hearing impairment, Ataxia, Macrotia, Progressive neurologic deterioration, Olivopo... ORPHA:506
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Difficulty walking, Progressive spastic paraplegia, Waddling gait, Unsteady gait, Spastic... ORPHA:464282
Xeroderma Pigmentosum, Complementation Group A
Mental deterioration, Ataxia, Choreoathetosis, Photophobia OMIM:278700
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Positive Romberg sign, Distal sensory impairment, Tinn... OMIM:601152
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Postaxial polydactyly, Depressed nasal bridge, Abnormal nasal morphology, Bro... ORPHA:404440
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Overlapping toe, Ataxia, Postaxial polydactyly, Depressed nasal... ORPHA:435638
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia, Short stature, Death in infancy, Tongue fasciculations OMIM:618822
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hemiparesis, Memory impairment, Tremor, O... OMIM:619737
Free Sialic Acid Storage Disease
Ataxia, Athetosis, Gait disturbance, Seizure, Skin ulcer ORPHA:834
Congenital Tufting Enteropathy
Photophobia, Failure to thrive, Weight loss, Irritability ORPHA:92050
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Hoffmann sign, Ankle c... ORPHA:139396
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia OMIM:607516
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior, Spasticity ORPHA:457260
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Optic Atrophy 11
Ataxia, Hyperactivity, Dysmetria, Short stature, Hyperkinetic movements OMIM:617302
Sjogren-Larsson Syndrome
Color vision defect, Reduced visual acuity, Photophobia OMIM:270200
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bradykinesia, Dysmetria, Depression, Intention tremor, Anxiety, Parkinsonism, Rigidity, M... ORPHA:93256
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Low-set ears, Cerebellar hypoplasia, Rocker bottom foot OMIM:619072
Migraine With Or Without Aura, Susceptibility To, 12
Photophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Photophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Photophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Photophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Photophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Photophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Photophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia OMIM:607508
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Short stature, Cerebral palsy, Attention deficit hyp... ORPHA:352490
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Insulinoma
Increased body weight, Tremor, Lethargy, Paresthesia, Transient global amnesia, Abnormality of pa... ORPHA:97279
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Short stature, Chorea, Athetosis, Aggressive behavior, Dys... OMIM:619435
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Holoprosencephaly
Abnormal antihelix morphology, Depressed nasal ridge, Depressed nasal tip, Aplasia/Hypoplasia of ... ORPHA:2162
Chiari Malformation Type I
Paresthesia, Gait ataxia, Diplopia, Photophobia OMIM:118420
Snijders Blok-Campeau Syndrome
Broad-based gait, Speech apraxia, Motor stereotypy, Unsteady gait OMIM:618205
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth... ORPHA:370959
Gorlin Syndrome
Arachnodactyly, Abnormality of the sense of smell, Brachydactyly, Palmar pits, Wide nasal bridge ORPHA:377
Sandhoff Disease
Ataxia, Upper motor neuron dysfunction, Exaggerated startle response, Progressive psychomotor det... OMIM:268800
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Abnormality of the sense of smell, Camptodactyly of fi... ORPHA:3201
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Abnormal hypothalamus morpholog... ORPHA:68
4Q21 Microdeletion Syndrome
Motor stereotypy, Self-injurious behavior, Tremor, Growth delay, Intrauterine growth retardation ORPHA:238750
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Frequent... OMIM:615673
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Focal impaired awareness seizure, Stereotypical hand wringing, Bilateral tonic-clonic... OMIM:619854
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... ORPHA:98795
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior, Spasticity OMIM:619467
Arthrogryposis Multiplex Congenita 6
Death in childhood, Akinesia, Neonatal death, Death in infancy OMIM:619334
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Polyphagia, Hypersex... OMIM:607485
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Failure to thrive, Nyctalopia, Visual loss, Myopia ORPHA:5
Refsum Disease
Sensorineural hearing impairment, Ataxia, Dry skin, Hammertoe, Anosmia, Short metacarpal ORPHA:773
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Impulsivity, Hyperactivity, Anxiety, Aggressive behavior, Dystonia OMIM:616977
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Dermatoosteolysis, Kirghizian Type
Skin ulcer OMIM:221810
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Generalized-onset s... OMIM:300672
Arnold-Chiari Malformation Type I
Photophobia, Progressive cerebellar ataxia, Dysesthesia, Diplopia, Somatic sensory dysfunction, G... ORPHA:268882
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fragile X Syndrome
Recurrent hand flapping, Hyperactivity, Poor eye contact, Self-biting OMIM:300624
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Cognitive impairment, Distal sensory impairment, Difficulty walking, A... ORPHA:254930
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Distal upper limb muscle weakness, Dysesthesia, Impaired vibration sensation in the lower limbs, ... OMIM:613640
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Ataxia, Choreoathetosis, Photophobia OMIM:278730
Rhombencephalosynapsis
Ataxia, Fusion of the left and right thalami, Short phalanx of finger, Agenesis of cerebellar ver... ORPHA:59315
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Hearing impairment, Short nas... OMIM:302950
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Ataxia, Anosmia OMIM:614879
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Aggressive behavior, Seizure ORPHA:313892
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Mental deterioration, Parkinsonism, Memory impairment, Ga... ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618825
Amaurosis-Hypertrichosis Syndrome
Photophobia, Visual impairment, High hypermetropia ORPHA:1021
Coffin-Siris Syndrome 6
Motor stereotypy, Short stature, Anxiety, Attention deficit hyperactivity disorder, Tics OMIM:617808
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... ORPHA:778
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
EEG abnormality, Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior, Seizure ORPHA:391372
Obesity Due To Sim1 Deficiency
Obesity, Memory impairment, Cognitive impairment ORPHA:369873
Babesiosis
Photophobia ORPHA:108
Acrodermatitis Enteropathica
Photophobia, Failure to thrive, Emotional lability, Weight loss, Visual impairment ORPHA:37
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, EEG abnormality, Bulbous nose, Abnormality of the hand, Depressed nasal... ORPHA:369891
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Short distal phalanx of finger, Cognitive impairment, Brachydactyly, Abnormalit... ORPHA:2959
Alazami Syndrome
Motor stereotypy, Self-mutilation, Anxiety, Stereotypical hand wringing, Abnormal eating behavior... ORPHA:319671
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Depression, Oculogyric crisis, Anxiety, No social interaction, Ri... ORPHA:217253
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation, Short stature, Impaired pain sens... OMIM:182290
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, EEG abnormality, Self-injurious behavior, EEG with frontal sharp slow waves, Ge... ORPHA:457351
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Bradykinesia, Resting tremor, Dementia OMIM:607060
Joubert Syndrome 32
Large for gestational age, Oculomotor apraxia, Ataxia, Tall stature OMIM:617757
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, Myoclonic... OMIM:184850
Refsum Disease, Classic
Sensorineural hearing impairment, Ataxia, Short fourth metatarsal, Somatic sensory dysfunction, A... OMIM:266500
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Death in childhood, Spasticity, Death in infancy, Dysphagia,... OMIM:607625
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Ataxia, Dysmetria, Constriction of peripheral visual field, Reduced visual acuity OMIM:618527
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Leigh Syndrome With Cardiomyopathy
Ataxia, Mental deterioration, Chorea, Abnormality of thalamus morphology, Hearing impairment, Dys... ORPHA:70474
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 51
Hand-leading gestures, Recurrent hand flapping, Attention deficit hyperactivity disorder, Aggress... OMIM:617788
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Motor stereotypy, Ataxia, EEG abnormality, EEG with focal spike waves, Upper ...