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.

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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
Persistent Idiopathic Facial Pain
Somatic sensory dysfunction, Anxiety, Impaired pain sensation, Paresthesia, Depression ORPHA:398147
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Chorea, Benign Hereditary
Anxiety, Chorea, Gait disturbance OMIM:118700
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Anxiety, Deficit in phonologic short-term memory, Emotional lability, Depre... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Bradykinesia, Apathy, Irritability, Chorea, Depression, Weight ... OMIM:606438
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Shyness OMIM:618221
Posterior Cortical Atrophy
Color vision defect, Memory impairment, Inertia, Anxiety, Abnormality of vision, Ataxia, Photopho... ORPHA:54247
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Generalized-onset seizure, Motor stereotypy, Focal-onset ... ORPHA:88616
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor, Epileptic spasm, Seizure, Hypsarrhythmia OMIM:619561
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Stereotypical hand wringing, Self-injurious behav... OMIM:618760
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Disinhibition, Fasciculations, Inappropriate behavior, Emotional blunting, Aggr... ORPHA:275864
Spinocerebellar Ataxia Type 27
Hand tremor, Memory impairment, Akinesia, Aggressive behavior, Gait ataxia, Limb ataxia, Gait dis... ORPHA:98764
Huntington Disease
Dystonia, Degeneration of the striatum, Aggressive behavior, Apathy, Depression, Disinhibition, C... ORPHA:399
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Parkinsonism, Memory impairment, Dystonia, Anxiety, Inappropriate behavior,... ORPHA:401901
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Memory impairment, Dystonia, Dementia, Bradykinesia, I... ORPHA:454887
Myoclonus-Dystonia Syndrome
Anxiety, Panic attack, Limb myoclonus, Personality disorder, Spinal myoclonus, Torticollis, Depre... ORPHA:36899
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability, Babinski sign OMIM:616657
Foxg1 Syndrome
Impaired social interactions, Cognitive impairment, Dystonia, Choreoathetosis, Severe postnatal g... ORPHA:561854
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Manganese Poisoning
Dystonia, Memory impairment, Bradykinesia, Akinesia, Aggressive behavior, Impairment in personali... ORPHA:306682
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Myoclonus, Tremor OMIM:159900
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Chorea ORPHA:494541
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Generalized-onset seizure, Anxiety, Focal-onset seizure, Normal inter... OMIM:602066
Jeavons Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Atonic seizure, Focal s... ORPHA:139431
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Atypical Rett Syndrome
Dystonia, Loss of ability to walk, Panic attack, Hand apraxia, Tremor, Impaired social interactio... ORPHA:3095
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Ataxia, Photophobia, Reduced visual acuity OMIM:618970
Spinocerebellar Ataxia 21
Cognitive impairment, Parkinsonism, Dystonia, Intention tremor, Mental deterioration, Ataxia, Aki... OMIM:607454
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Inap... ORPHA:412066
Huntington Disease-Like 1
Dysmetria, Anxiety, Aggressive behavior, Unsteady gait, Chorea, Depression OMIM:603218
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cognitive impairment, Ataxia, Truncal ataxia OMIM:617584
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait atax... ORPHA:248111
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia,... OMIM:606693
Schizophrenia 15
Hyperactivity OMIM:613950
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Perry Syndrome
Suicidal ideation, Parkinsonism, Short stepped shuffling gait, Dystonia, Disinhibition, Anxiety, ... OMIM:168605
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Hypoplasia of the corpus callosum, EEG abnormality, Caudate atrophy, Memory impairment, Disinhibi... OMIM:618193
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Landau-Kleffner Syndrome
Aggressive behavior, EEG with frontal focal spikes, Nocturnal seizures, Depression, EEG with temp... ORPHA:98818
Dystonia 12
Dystonia, Anxiety, Bradykinesia, Unsteady gait, Emotional lability, Torticollis, Depression, Tremor OMIM:128235
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Poor eye contact, Spasticity, Tremor OMIM:300983
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Cognitive impairment, Obesity, Ataxia, Unsteady gait, Tr... OMIM:614947
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity, Seizure, Hypsarrhythmia ORPHA:500545
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Abnormal social behavior, Oculogyric crisis, Anxiety, Inability t... ORPHA:255
Spinocerebellar Ataxia 14
Dysmetria, Memory impairment, Focal dystonia, Mental deterioration, Gait ataxia, Progressive cere... OMIM:605361
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Impu... OMIM:309548
Developmental And Epileptic Encephalopathy 56
Action tremor, EEG abnormality, Anxiety, Ataxia, Poor coordination, EEG with polyspike wave compl... OMIM:617665
Fraxe Intellectual Disability
Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Clumsiness, Impulsivity ORPHA:100973
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Mental deterioration, Ataxia, Spa... OMIM:615924
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Cerebellar calcifications, Generalized dystonia, Thalamic calcification, Bradykinesia, Mental det... OMIM:618824
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240071
Usher Syndrome, Type Iiib
Truncal ataxia, Ataxia, Photophobia, Visual impairment OMIM:614504
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Anxiety, Bradykinesia, Decrease... OMIM:619279
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Anxiety, Dementia, Head tremor, Progressi... OMIM:604326
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Central scotoma, Color vision defect, Blind-spot enlargment, Ataxia, Photophobia, Reduced visual ... OMIM:616732
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Anxiety, Bradykinesia, Craniofacial dystonia, Limb dystonia, Emotional lability, ... ORPHA:71517
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Self-injurious behavior, Inappropriate crying, Seizure, Hyperkinetic... ORPHA:397933
Narcolepsy Type 1
Obesity, Cataplexy, Slurred speech, Transient global amnesia ORPHA:2073
Retinitis Pigmentosa 81
Pallor OMIM:617871
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Clinodactyly of the 5th finger, Aggressive behavior, Primary microcep... OMIM:618010
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Cerebellar hypoplasia, Lissencephaly, Small hand, Type II lissencephaly, Small basal ga... ORPHA:300570
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pal... ORPHA:397725
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Interictal epileptiform activity, Motor stereotypy, Anxiety, Involuntary movem... ORPHA:98784
Neuroferritinopathy
Cognitive impairment, Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumul... ORPHA:157846
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... ORPHA:391411
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Cognitive impairment, Action tremor, Parkinsonism, Intention tremor, Dem... ORPHA:98762
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior,... ORPHA:3077
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Spastic dysarthria, Loss of ability to walk, Deme... ORPHA:240094
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Dystonia, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritabili... OMIM:618093
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Anxiety, Dementia, Motor deteri... ORPHA:168782
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, EEG with series of focal spikes, EEG with photoparoxysmal response, EEG with ge... ORPHA:168491
Spinocerebellar Ataxia Type 21
Cognitive impairment, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality... ORPHA:98773
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Anxiety, Bradykinesia, Depression OMIM:605909
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Cognitive impairment, Dystonia, Anxiety, Inappropriate behavior, Short s... ORPHA:309246
Autosomal Dominant Cerebellar Ataxia
Cognitive impairment, Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnorm... ORPHA:99
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Anxiety, Dementia, Athetosis, Apathy, Chorea, Depression OMIM:615483
Postencephalitic Parkinsonism
Happy demeanor, Abnormal pyramidal sign, Resting tremor, Oculogyric crisis, Abnormal aggressive, ... ORPHA:97349
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior, Growth delay, Spasticity, ... OMIM:612716
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Dystonia, Motor stereotypy, Spastic dysarthria, Shyness, Short st... ORPHA:280763
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Aggressive behavior OMIM:615493
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Aggressive be... ORPHA:228360
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Head tremor, Hyposmia, Abnormality of thalamus morphology, Abnormal motor neuro... OMIM:613724
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure, Anxiet... ORPHA:36387
Idiopathic Intracranial Hypertension
Visual loss, Obesity, Blurred vision, Diplopia, Photophobia, Abnormal emotion/affect behavior, Sc... ORPHA:238624
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Broad-based gait, Tremor OMIM:619470
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Focal aware seizure, Cogwheel rigidity, Febrile ... ORPHA:33069
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Aggressive behavior ORPHA:356996
Hereditary Late-Onset Parkinson Disease
Low frustration tolerance, Frequent falls, Resting tremor, Shuffling gait, Parkinsonism, Dystonia... ORPHA:411602
Blue Cone Monochromacy
Visual impairment, Myopia, Blue cone monochromacy, Photophobia, Reduced visual acuity OMIM:303700
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Spastic paraparesis, Ataxia, Rigidity, Dysphagia, Gait... ORPHA:391417
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Tritanopia
Reduced visual acuity, Tritanomaly, Photophobia, Color vision test abnormality ORPHA:88629
Cone Dystrophy 4
Reduced visual acuity, Visual impairment, Photophobia, Dyschromatopsia OMIM:613093
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Abnormal social behavior, Complex febrile seizure, Anxi... ORPHA:101039
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Motor stereotypy, Generalized-onset seizur... ORPHA:178469
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Progressive language deterioration, L... ORPHA:79264
Corneal Dystrophy, Gelatinous Drop-Like
Blurred vision, Visual impairment, Photophobia, Reduced visual acuity OMIM:204870
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Memory impairment, Shuffling gait, Resting tremor, Intention tremor, Dementia, Atax... ORPHA:247234
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Achromatopsia 4
Achromatopsia, Photophobia, Visual impairment OMIM:613856
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor coordination, Recurrent hand flapping, Gait ataxia, Irritability, Impulsivity OMIM:619717
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Cognitive impairment, No social interaction, Unhap... ORPHA:96369
Bardet-Biedl Syndrome 12
Cognitive impairment, Obesity OMIM:615989
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Growth delay, Inappropriate laughter, Poor ... ORPHA:505652
Ataxia-Oculomotor Apraxia Type 4
Cognitive impairment, Somatic sensory dysfunction, Dystonia, Obesity, Ataxia, Oculomotor apraxia ORPHA:459033
Optic Atrophy 12
Reduced visual acuity, Abnormal Ishihara plate test, Photophobia, Dyschromatopsia OMIM:618977
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Obesity, Mental deterioration, Impaired vibration sensation in the lower limbs, Ata... OMIM:604360
Mohr-Tranebjaerg Syndrome
Visual impairment, Myopia, Mental deterioration, Photophobia, Cerebral visual impairment, Constri... OMIM:304700
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Congenital stationary night blindness, Visual impairment OMIM:610427
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Cognitive impairment, Dystonia, Apraxia, Anxiety, Spastic paraparesis,... OMIM:615157
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Dystonia, Impaired pain sensation, Hyperactivity, Inability to walk, Lim... ORPHA:500180
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Hypertonia, Action tremor, Parkinsonism, Dystonia, Anxiety, Ataxia,... OMIM:619738
Cone-Rod Dystrophy 13
Visual impairment, Color vision defect, Photophobia, Reduced visual acuity OMIM:608194
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Aggressive behavior, Personality disorder, Falls, Myoclonus ORPHA:2382
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Low-set ears, Abnormal social behavior, Anxiety, Clinodactyly of the 5th finger, P... ORPHA:444002
Optic Atrophy 6
Photophobia, Red-green dyschromatopsia, Visual impairment OMIM:258500
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, G... ORPHA:208447
Progressive Supranuclear Palsy
Cognitive impairment, Dystonia, Memory impairment, Blepharospasm, Dementia, Abnormal synaptic tra... ORPHA:683
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Clinodactyly, Broad columella, Conductive hearing impairment, Sensori... ORPHA:557003
Aceruloplasminemia
Cognitive impairment, Parkinsonism, Memory impairment, Dystonia, Blepharospasm, Involuntary movem... ORPHA:48818
Christianson Syndrome
Dystonia, Motor stereotypy, Conspicuously happy disposition, Inappropriate laughter, Gait ataxia,... ORPHA:85278
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Achromatopsia 7
Achromatopsia, Central scotoma, Photophobia, Reduced visual acuity OMIM:616517
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Stereotypical hand wringing, Self-injurious behavior, Focal-onset seizure, Febrile... OMIM:618917
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Lethargy, Irritability, Death in infancy, Impulsivity, Myoclonus OMIM:605899
Macular Dystrophy, Vitelliform, 3
Reduced visual acuity, Photophobia, Metamorphopsia, Visual impairment OMIM:608161
Achromatopsia
Central scotoma, Color vision defect, Color vision test abnormality, Hypermetropia, Myopia, Photo... ORPHA:49382
Cone-Rod Dystrophy 17
Central scotoma, Photophobia, Visual impairment OMIM:615163
New-Onset Refractory Status Epilepticus
EEG with generalized slow activity, Cognitive impairment, EEG with spike-wave complexes, EEG with... ORPHA:363558
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Phonic tics, Dysphagia, Depression, Abnormality of extrapyramidal motor function, Tremo... OMIM:234200
Cone Dystrophy 3
Progressive visual loss, Photophobia, Reduced visual acuity OMIM:602093
Young-Onset Parkinson Disease
Impaired social interactions, Cognitive impairment, Dystonia, Anxiety, Dementia, Bradykinesia, Pa... ORPHA:2828
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Low frustration tolerance, Interictal epileptiform activity, ... ORPHA:163681
Acute Disseminated Encephalomyelitis
EEG with generalized slow activity, Cerebral edema, Somatic sensory dysfunction, EEG with focal s... ORPHA:83597
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Visual impairment, Myopia, Photophobia, Nyctalopia, Reduced visual acuity OMIM:304020
Progressive Cone Dystrophy
Color vision defect, Photophobia, Visual impairment ORPHA:1871
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, EEG with irregular generalized spike a... ORPHA:1945
Chilblain Lupus 1
Skin ulcer OMIM:610448
Bardet-Biedl Syndrome 18
Cognitive impairment, Obesity OMIM:615995
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Anxiety, Short stature, Self-mutilation, Gait disturbance, Depression, Upper li... ORPHA:457240
Retinal Cone Dystrophy 1
Progressive visual loss, Color vision defect, Photophobia OMIM:180020
Blue Cone Monochromatism
Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Clinodactyly, Anosmia, Agenesis of corpus callosum, Sensorineural hearing impairment, Aplasia of ... OMIM:147950
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Dystonia, Inability to walk, Hypoplasia of the olfactory bulb, ... OMIM:618646
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Cognitive impairment, Dysmetria, Cerebral atrophy, ... ORPHA:135
Albinism, Oculocutaneous, Type Vi
Visual impairment, Photophobia, Reduced visual acuity OMIM:113750
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
Fragile X Tremor/Ataxia Syndrome
Dysmetria, Action tremor, Memory impairment, Resting tremor, Disinhibition, Parkinsonism, Anxiety... OMIM:300623
Retinal Cone Dystrophy 3A
Reduced visual acuity, Nyctalopia, Photophobia, Dyschromatopsia OMIM:610024
Supranuclear Palsy, Progressive, 1
Parkinsonism, Memory impairment, Axial dystonia, Frontolimbic dementia, Bradykinesia, Akinesia, L... OMIM:601104
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Hemiparesis, Impulsivity, Hypertonia OMIM:604317
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Cone Rod Dystrophy
Nyctalopia, Color vision defect, Photophobia, Visual impairment ORPHA:1872
Superficial Siderosis
Abnormal corpus callosum morphology, Cognitive impairment, Atrophy of the spinal cord, Cerebellar... ORPHA:247245
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonic absence seizure, Anxiety, Typical absence s... ORPHA:64280
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Anxiety, Bradykinesia, Rigidity, Postural tremor, Parkinsonism wit... OMIM:606324
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age range of 3 mont... ORPHA:289266
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Obesity, Inability to walk, Ataxia, Lower limb spasticity, Waddling gait, Broad-based gait OMIM:616756
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Caudate atrophy, Retrocerebellar cyst, Cerebellar hypoplasia, Inten... ORPHA:137831
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Ataxia, Poor coordination, Abnormality of pain sensation, Recurrent... ORPHA:544254
Japanese Encephalitis
Cognitive impairment, EEG abnormality, Dystonia, Opisthotonus, Distal upper limb muscle weakness,... ORPHA:79139
Rasmussen Subacute Encephalitis
Cognitive impairment, Memory impairment, Involuntary movements, Inability to walk, Hyperactivity,... ORPHA:1929
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Mucolipidosis Iv
Progressive neurologic deterioration, Photophobia, Visual impairment OMIM:252650
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Inability to walk, Spastic... OMIM:618718
Night Blindness, Congenital Stationary, Type 1H
Nyctalopia, Photophobia, Mild myopia, Hypermetropia OMIM:617024
Supranuclear Palsy, Progressive, 2
Parkinsonism, Memory impairment, Axial dystonia, Frontolimbic dementia, Bradykinesia, Akinesia, A... OMIM:609454
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, ... ORPHA:228402
Bardet-Biedl Syndrome 10
Cognitive impairment, Obesity OMIM:615987
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cognitive impairment, Memory impairment, Impaired vibratory sensation, Atrophy/Degeneration invol... ORPHA:70595
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Dementia, Mental deterioration, Akinesia, ... OMIM:616840
Episodic Ataxia Type 6
Diplopia, Ataxia, Photophobia, Reduced visual acuity ORPHA:209967
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Hyperintensity of cerebral white matt... ORPHA:1947
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Leber Congenital Amaurosis 16
Nyctalopia, Visual impairment, Photophobia, Reduced visual acuity OMIM:614186
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Happy demeanor, Intrauterine growth retardation, Stereotypical hand wringing, Hyp... OMIM:614104
Bardet-Biedl Syndrome 5
Cognitive impairment, Obesity OMIM:615983
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity OMIM:610381
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia OMIM:600852
Macular Dystrophy, Patterned, 1
Nyctalopia, Photophobia, Metamorphopsia OMIM:169150
Retinitis Pigmentosa 37
Nyctalopia, Tritanomaly, Photophobia, Red-green dyschromatopsia OMIM:611131
Flynn-Aird Syndrome
Cerebral calcification, EEG abnormality, Impaired pain sensation, Dementia, Ataxia, Progressive s... ORPHA:2047
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Parkinsonism, Memory impairment, Abnormal social behavior, Apraxia, Dementia, ... ORPHA:1020
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Infantile Neuroaxonal Dystrophy
Spastic tetraparesis, Abnormal pyramidal sign, Dystonia, Choking episodes, Psychomotor deteriorat... ORPHA:35069
X-Linked Adrenoleukodystrophy
Incoordination, Cognitive impairment, Somatic sensory dysfunction, Paralysis, Disinhibition, Prog... ORPHA:43
Cone-Rod Dystrophy 22
Photophobia, Reduced visual acuity OMIM:619531
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Cognitive impairment, Obesity OMIM:619058
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Photophobia, Nyctalopia OMIM:616079
Cone-Rod Dystrophy 21
Nyctalopia, Photophobia, Reduced visual acuity OMIM:616502
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Mental deterioration, Gait at... OMIM:610217
Albinism, Oculocutaneous, Type Vii
Photophobia OMIM:615179
Metachromatic Leukodystrophy, Adult Form
Frequent falls, Decerebrate rigidity, Memory impairment, Dystonia, Intention tremor, Abnormal soc... ORPHA:309271
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Motor stereotypy, Generalized tonic seizure, Multifocal epileptiform discharges, ... ORPHA:411986
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Cognitive impairment, Hyperactivity, Ataxia, Limb dystonia... ORPHA:363400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Motor stereotypy, Anxiety, Ataxia, Lethargy, Emotional lability, Paraplegia ORPHA:927
Hydrolethalus
Agenesis of corpus callosum, Low-set ears, Anencephaly, Low-set, posteriorly rotated ears, Microm... ORPHA:2189
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Cerebellar hypoplasia, Rocker bottom foot, Microcephaly, Simplified gyral pattern, ... OMIM:619072
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Smith-Magenis syndrome
Short stature, Self-mutilation, Hyperactivity DECIPHER:8
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Progressive language deterioration, Hyperactivity, Ataxia, Aggressi... OMIM:610042
Cone-Rod Dystrophy 15
Color vision defect, Progressive visual loss, Photophobia, Nyctalopia, Constriction of peripheral... OMIM:613660
Hartnup Disease
Anxiety, Abnormality of vision, Ataxia, Emotional lability, Photophobia ORPHA:2116
Oligocone Trichromacy
Photophobia ORPHA:75378
Developmental And Epileptic Encephalopathy 87
Hypsarrhythmia, Recurrent hand flapping, Seizure, Infantile spasms, Hypertonia OMIM:618916
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Spasticity, Seizure, Recurrent hand flapping OMIM:618859
Cone-Rod Dystrophy, X-Linked, 3
Central scotoma, Color vision defect, Visual impairment, Myopia, Photophobia, Reduced visual acuity OMIM:300476
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Anxiety, Bradykinesia, Ataxia, Panic at... OMIM:619725
Jalili Syndrome
Nyctalopia, Photophobia, Monochromacy OMIM:217080
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior, Progres... ORPHA:382
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Increased body weight, Tremor, Lethargy ORPHA:276608
Infantile Krabbe Disease
Visual loss, Psychomotor deterioration, Blindness, Hyperesthesia, Mental deterioration, Irritabil... ORPHA:206436
Leber Congenital Amaurosis 14
Congenital blindness, Nyctalopia, Photophobia, Reduced visual acuity OMIM:613341
Leber Congenital Amaurosis 6
Severely reduced visual acuity, High hypermetropia, Photophobia OMIM:613826
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, EEG abnormality, Seizure, Recurrent hand flapping OMIM:617268
Macrocephaly-Developmental Delay Syndrome
EEG with generalized slow activity, Motor stereotypy, Self-injurious behavior, Anxiety, Seizure ORPHA:397612
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Lower limb spasticity, Aggressive behavior, Unst... ORPHA:485350
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Happy demeanor, Opisthotonus, Choreoathetosis, Mood swings, Paroxysmal bursts of laughter, Anxiet... OMIM:619580
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia, Broad-based gait ORPHA:411515
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Hyperactivity, Inability to walk, Growth delay, Aggressive behavior... OMIM:103050
Episodic Ataxia, Type 6
Truncal ataxia, Diplopia, Episodic ataxia, Photophobia OMIM:612656
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal pyramidal sign, Lack of peer relationships, Hyperactivity,... ORPHA:1942
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Dystonia, Intention tremor, Abnormal social behavior, Emotional lability, Spastic... ORPHA:309263
Retinal Cone Dystrophy 3B
Nyctalopia, Scotoma, Photophobia, Myopia OMIM:610356
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Rigidity, Difficulty walking, Exaggerated startle response, Falls, A... ORPHA:3198
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Retinal Cone Dystrophy 4
Visual impairment, Photophobia, Constriction of peripheral visual field, Reduced visual acuity OMIM:610478
Lamb-Shaffer Syndrome
Abnormal social behavior, Motor stereotypy, Hyperactivity, Mild postnatal growth retardation, Ata... ORPHA:530983
X-Linked Intellectual Disability, Hedera Type
Dysmetria, Action tremor, Frequent falls, Apraxia, Extrapyramidal muscular rigidity, Inability to... ORPHA:93952
Cone-Rod Dystrophy 16
Progressive visual loss, Nyctalopia, Photophobia, Reduced visual acuity OMIM:614500
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Photophobia ORPHA:438134
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Recurrent hand flapping, Tongue th... ORPHA:98794
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Generalized myoclonic seizure, Inappropriate crying, Tongue thrusting,... ORPHA:77299
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Microphthalmia, Isolated 5
Visual impairment, Hypermetropia, Photophobia, Nyctalopia, Reduced visual acuity OMIM:611040
Leber Congenital Amaurosis 2
Blindness, Nyctalopia, Photophobia, Reduced visual acuity OMIM:204100
Buerger Disease
Skin ulcer ORPHA:36258
Retinitis Pigmentosa
Progressive night blindness, Blindness, Obesity, Photophobia, Visual impairment ORPHA:791
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Growth delay, Aggressive behavior, Shyness, Short stature, Spas... OMIM:300978
Spinocerebellar Ataxia Type 7
Visual loss, Dysmetria, Somatic sensory dysfunction, Blindness, Mental deterioration, Ataxia, Hem... ORPHA:94147
Postorgasmic Illness Syndrome
Irritability, Blurred vision, Photophobia ORPHA:279947
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb hypertonia, Limb dystonia, Let... OMIM:608643
Retinitis Pigmentosa 79
Nyctalopia, Photophobia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617460
Achromatopsia 3
High myopia, Dyschromatopsia, Achromatopsia, Severely reduced visual acuity, Photophobia, Monochr... OMIM:262300
Retinitis Pigmentosa 32
Nyctalopia, Photophobia, Reduced visual acuity OMIM:609913
Mehmo Syndrome
Spastic tetraparesis, Small for gestational age, Obesity, Inability to walk, Gait ataxia, Spastic... OMIM:300148
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Dementia, Bradykinesia, Substantia nigra gliosis, Lewy bodies, Hyposmia OMIM:607060
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Paralysis, Abnormal pyramidal sign, Dystonia, Dementia, Apathy, Chorea, Exa... OMIM:272750
Irvan Syndrome
Blurred vision, Vitreous floaters, Photophobia, Reduced visual acuity ORPHA:209943
Lyme Disease
Paresthesia, Amaurosis fugax, Memory impairment, Photophobia ORPHA:91546
Oculopharyngodistal Myopathy 3
Ataxia, Photophobia OMIM:619473
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Hyperactivity, Ataxia, Aggressive behavior, Hyperkinetic movements OMIM:271980
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Impaired pain sensation, Acral ulceration, Decreased motor nerve conduction velocity, Abnormality... ORPHA:139578
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
48,Xxyy Syndrome
Motor stereotypy, Anxiety, Ataxia, Attention deficit hyperactivity disorder, Depression, Tremor ORPHA:10
Leber Congenital Amaurosis 1
Blindness, Nyctalopia, Photophobia, Reduced visual acuity OMIM:204000
Tay-Sachs Disease
Incoordination, Ankle clonus, Dysmetria, Frequent falls, Memory impairment, Decerebrate rigidity,... ORPHA:845
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Unsteady gait, Self-mutilation OMIM:615516
Birdshot Chorioretinopathy
Visual loss, Blind-spot enlargment, Arcuate scotoma, Blurred vision, Photophobia, Vitreous floaters ORPHA:179
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Dementia, Mental deterioration, Photophobia, C... ORPHA:52368
Keratoendotheliitis Fugax Hereditaria
Blurred vision, Photophobia OMIM:148200
Distal Xq28 Microduplication Syndrome
Self-biting, Anxiety, Aggressive behavior, Poor eye contact, Short stature, Tip-toe gait, Stereot... ORPHA:293939
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Anxiety, Hyperactivity, ... ORPHA:449291
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Leigh Syndrome
Cerebellar atrophy, Hypoplasia of the corpus callosum, Dystonia, Agenesis of corpus callosum, Cho... ORPHA:506
Dystonia 26, Myoclonic
Blepharospasm, Anxiety, Torticollis, Depression, Myoclonus OMIM:616398
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Anosmia, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Senso... ORPHA:3157
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
3P25.3 Microdeletion Syndrome
Acromesomelia, Anteverted nares, Sensorineural hearing impairment, Tapered finger, Cerebral white... ORPHA:435638
Trichotillomania
Hair-pulling OMIM:613229
Gorlin Syndrome
Cerebral calcification, Brachydactyly, Wide nasal bridge, Arachnodactyly, Abnormality of the sens... ORPHA:377
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Inability to walk, Hyperactivity, Ataxia, Aggre... ORPHA:72
Boucher-Neuhauser Syndrome
Gait ataxia, Progressive visual loss, Ataxia, Photophobia OMIM:215470
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Decerebrate rigidity, Dystonia, Abnormal social behavior, Gait ataxia, Emotional ... ORPHA:309256
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Dystonia, Basal ganglia gliosis, Mental deterioration, Ataxi... ORPHA:70474
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the ba... ORPHA:68
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Parkinsonism, Choreoathetosis, Shuffling gait, Resting tremor, Apraxia, Spastic tet... OMIM:300055
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Meningioma
Tinnitus, Focal T2 hypointense thalamic lesion, Cognitive impairment, Memory impairment, Abnormal... ORPHA:2495
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Unsteady gait, Tics, Broad-based gait, Hypertonia OMIM:617865
Beta-Thalassemia
Pallor, Irritability, Skin ulcer ORPHA:848
Combined Oxidative Phosphorylation Defect Type 7
Cognitive impairment, Inability to walk, Ataxia, Impaired tandem gait, Distal sensory impairment,... ORPHA:254930
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, Mic... ORPHA:3201
Bardet-Biedl Syndrome 17
Brachydactyly, Cognitive impairment, Mesoaxial polydactyly, Postaxial foot polydactyly, Anosmia, ... OMIM:615994
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Microcephaly, Short distal phalanx of finger, Depressed nasal bridge, Short nasal septum... OMIM:302950
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, 2-3 toe syndactyly, Low-set ears, Anxiety, Wide nasal bridge, Broad d... ORPHA:404440
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Ataxia, Inappropriate laughter, Recurrent hand flapping, Tongue thrusting, Dyspha... ORPHA:411511
Neovascular Glaucoma
Visual loss, Visual acuity test abnormality, Photophobia ORPHA:94058
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Stereotypical hand wringing, Anxiety, Hyperactivity, L... OMIM:300912
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia, Short stature, Delayed puberty, Tremor OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Anxiety, Inability to walk, Lower limb spasticity, Ataxia, Poor e... OMIM:300260
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Cerebellar cyst, Dilated fourth ventricle, Cerebellar hypoplasia, Ty... ORPHA:370959
Gaucher Disease, Perinatal Lethal
Opisthotonus, Intrauterine growth retardation, Akinesia, Apathy, Progressive neurologic deteriora... OMIM:608013
Niemann-Pick Disease Type C
Cognitive impairment, Dystonia, Abnormal social behavior, Cataplexy, Aggressive behavior, Apathy,... ORPHA:646
Choreoacanthocytosis
Aggressive behavior, Phonic tics, Apathy, Dysphagia, Hair-pulling, Depression, Hyperkinetic movem... ORPHA:2388
Bardet-Biedl Syndrome 19
Hyposmia, Polydactyly OMIM:615996
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Anxiety, Conspicuously happy disposition, Ataxia, Aggressive behavior, R... OMIM:300986
Meningococcal Meningitis
Paresthesia, Irritability, Photophobia ORPHA:33475
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Motor stereotypy, Hyperactivity, Cerebral palsy, Short stature, S... ORPHA:352490
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Hearing impairment OMIM:615271
Hereditary Sensory And Autonomic Neuropathy Type 1
Trophic changes related to pain, Penetrating foot ulcers, Impaired distal tactile sensation, Decr... ORPHA:36386
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Hyperactivity, Ataxia, Short stature, Bipolar affe... OMIM:601853
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal sensory impairment, Obesity, Unsteady gait OMIM:618124
Paternal Uniparental Disomy Of Chromosome 1
Dyschromatopsia, Progressive visual loss, Obesity, Progressive psychomotor deterioration, Photoph... ORPHA:251004
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Finger syndactyly, Short phalanx of ... ORPHA:59315
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response, Hypertonia OMIM:272800
Xeroderma Pigmentosum, Complementation Group A
Ataxia, Mental deterioration, Choreoathetosis, Photophobia OMIM:278700
Holoprosencephaly
Cognitive impairment, Dystonia, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Da... ORPHA:2162
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Sjögren-Larsson Syndrome
Photophobia, Myopia ORPHA:816
X-Linked Creatine Transporter Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Short stature, Self-mutilation, Chorea, Hypertonia ORPHA:52503
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Dracunculiasis
Skin ulcer ORPHA:231
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Motor stereotypy, Self-injurious behavior, Growth delay, Tremor ORPHA:238750
Xq25 Microduplication Syndrome
Anxiety, Short stature, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Short stature, Hyperactivity OMIM:300979
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Apraxia, Inappropriate crying, Athetosis, Poor eye contac... OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, EEG abnormality, Abnormal nonverbal communicative behavior, Decreased nerve c... ORPHA:485421
Classic Mycosis Fungoides
Skin ulcer, Erythema, Dry skin ORPHA:2584
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Neurodegeneration With Brain Iron Accumulation 2A
Impaired social interactions, Cerebral atrophy, Cerebellar atrophy, Ataxia, Decreased nerve condu... OMIM:256600
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Dystonia, Obesity, Lower limb spasticity, Ataxia, Unsteady gait, ... ORPHA:464282
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Anosmia, Steppage gait, Mild neurosensory hearing impairment, Decreased motor nerve con... OMIM:601152
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Hearing impairment, Focal T2 hyperintense thalamic lesion OMIM:619057
Progeria-Short Stature-Pigmented Nevi Syndrome
Brachydactyly, Cognitive impairment, Microcephaly, Progressive sensorineural hearing impairment, ... ORPHA:2959
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Atypical absence seizure, EEG abnormality, Tongue thrusti... ORPHA:98795
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Death in infancy, Short stature, Tongue fasciculations, Akinesia OMIM:618822
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Memory impairment, Apraxia, Hyperactivity, Inability to walk, Me... ORPHA:139396
Leber Congenital Amaurosis 9
Nyctalopia, Photophobia, Hypermetropia OMIM:608553
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Broad-based gait, Aggressive behavior ORPHA:457260
Congenital Tufting Enteropathy
Failure to thrive, Irritability, Weight loss, Photophobia ORPHA:92050
Retinitis Pigmentosa 51
High myopia, Photophobia, Reduced visual acuity, Nyctalopia, Visual impairment OMIM:613464
Fragile X Syndrome
Periventricular heterotopia, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia OMIM:607516
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Short ear, Dysmetria, Memory impairment, Bulbous nose, Intention trem... ORPHA:314647
Fragile X-Associated Tremor/Ataxia Syndrome
Dysmetria, Parkinsonism, Memory impairment, Intention tremor, Inertia, Anxiety, Dementia, Bradyki... ORPHA:93256
Johnson Neuroectodermal Syndrome
Anosmia, Bulbous nose, Conductive hearing impairment, Atresia of the external auditory canal, Mic... ORPHA:2316
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Alazami Syndrome
Motor stereotypy, Stereotypical hand wringing, Anxiety, Self-mutilation, Postnatal growth retarda... ORPHA:319671
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, EEG abnormality, Anxiety, Spasticity, Oromotor apraxia, Seizure ORPHA:391372
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Small pituitary gland, Anosmia OMIM:612702
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Short stature, Hyperkinetic movements OMIM:617302
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Poor eye contact, Ataxia, Focal T2 hyperintense thalamic lesion OMIM:619046
Rett Syndrome
Dystonia, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Bradykinesia, Limb ap... ORPHA:778
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Aggressive behavior, Seizure ORPHA:313892
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
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Insulinoma
Abnormality of pain sensation, Paresthesia, Transient global amnesia, Lethargy, Increased body we... ORPHA:97279
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Growth delay, Lethargy, Tetraplegia, Hypertonia OMIM:274270
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, EEG abnormality, Motor stereotypy, Self-injurious behavior, Ge... ORPHA:457351
Sjogren-Larsson Syndrome
Photophobia OMIM:270200
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Memory impairment, Progressive language deteriorati... OMIM:607485
Acrogeria
Skin ulcer, Excessive wrinkled skin ORPHA:2500
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Chiari Malformation Type I
Gait ataxia, Diplopia, Photophobia, Paresthesia OMIM:118420
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-biting, Repetitive compulsive behavior, Hemiballismus, Dystonia, Choreoathetosis, Motor ster... ORPHA:522077
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge, Anxiety, Anterior hypopituitarism, Paresthesia, Depression, Heari... ORPHA:442
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Seizure, Motor stereotypy ORPHA:85277
Sandhoff Disease
Fasciculations, Ataxia, Impaired temperature sensation, Death in childhood, Upper motor neuron dy... OMIM:268800
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Growth delay, Clonus, Chorea, C... OMIM:615673
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Mental deterioration, Choreoathetosis, Photophobia OMIM:278730
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity, Aggressive behavior OMIM:617773
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Akinesia, Death in childhood OMIM:619334
Refsum Disease
Anosmia, Hammertoe, Short metacarpal, Sensorineural hearing impairment, Ataxia, Dry skin ORPHA:773
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Motor stereotypy, Lower limb spasticity, Hypsarrhythmia, Irritability, Clonus, ... ORPHA:447997
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Progressive cerebellar ataxia, Gait ataxia, Fatigable weakness of sw... ORPHA:268882
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Spasticity, Depression OMIM:619467
Blepharophimosis-Impaired Intellectual Development Syndrome
Narrow nasal ridge, Low frustration tolerance, Wide nose, Low-set ears, Underdeveloped nasal alae... OMIM:619293
Dermatoosteolysis, Kirghizian Type
Skin ulcer OMIM:221810
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired pain sensation, Impaired vibration sensation in the lower limbs, Distal upper limb muscl... OMIM:613640
8Q21.11 Microdeletion Syndrome
Absent palmar crease, Finger syndactyly, Low-set ears, Underdeveloped nasal alae, Aplasia/Hypopla... ORPHA:284160
Acrodermatitis Enteropathica
Emotional lability, Failure to thrive, Photophobia, Weight loss, Visual impairment ORPHA:37
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Aplasia/Hypoplasia involving the nose, Choanal atresia ORPHA:1135
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Ataxia, Olfactory lobe agenesis,... OMIM:308700
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autosomal Recessive Spastic Paraplegia Type 11
Parkinsonism, Memory impairment, Dementia, Obesity, Inability to walk, Ataxia, Overweight, Mental... ORPHA:2822
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Aggressive behavior, Short stature, Irritability ORPHA:391307
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Myopia, Failure to thrive, Photophobia, Nyctalopia ORPHA:5
Amaurosis-Hypertrichosis Syndrome
High hypermetropia, Photophobia, Visual impairment ORPHA:1021
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia, Microcephaly,... OMIM:615574
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Anosmia, Ataxia OMIM:614879
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Motor stereotypy, Hyperactivity, Growth delay, Aggressive behavior ORPHA:3306
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Impaired pain sensation, Anxiety, Short stature, Gait ... ORPHA:819
Obesity Due To Sim1 Deficiency
Cognitive impairment, Obesity, Memory impairment ORPHA:369873
Marbach-Schaaf Neurodevelopmental Syndrome
Happy demeanor, Aggressive behavior, Speech apraxia, Recurrent hand flapping, Hemidystonia, Atten... OMIM:619680
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Aggressive behavior, Gait ataxia, Self-mutilation, Attention deficit hyperactiv... ORPHA:476126
Babesiosis
Photophobia ORPHA:108
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Sensorineural hearing impairment... ORPHA:478
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anxiety, Rigidity, Exaggerated startle response, ... OMIM:184850
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, EEG abnormality, Low-set ears, Bulbous nose, Wide nasal bridge, Ataxia, Aggressive ... ORPHA:369891
Refsum Disease, Classic
Somatic sensory dysfunction, Anosmia, Sensorineural hearing impairment, Ataxia, Short fourth meta... OMIM:266500
Johnson Neuroectodermal Syndrome
Anosmia, Conductive hearing impairment, Choanal stenosis, Atresia of the external auditory canal,... OMIM:147770
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Joubert Syndrome 32
Large for gestational age, Oculomotor apraxia, Tall stature, Ataxia OMIM:617757
Kallmann Syndrome With Spastic Paraplegia
Olfactory lobe agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Ataxia OMIM:308750
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Cognitive impairment, Abnormal basal ganglia MRI signal i... ORPHA:444013
Cri-Du-Chat Syndrome
Anxiety, Hyperactivity, Conspicuously happy disposition, Growth delay, Aggressive behavior, Self-... OMIM:123450
Cataract 2, Multiple Types
Amblyopia, Photophobia, Visual impairment OMIM:604307
Nmda Receptor Encephalitis
Opisthotonus, Choreoathetosis, Memory impairment, Motor stereotypy, Dystonia, Anxiety, Involuntar... ORPHA:217253
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Spastic paraplegia, Exaggerated startle response, Babinski sign, Ankle clonus OMIM:609541
Necrobiosis Lipoidica
Skin ulcer, Erythema ORPHA:542592
Perrault Syndrome 4
Gait ataxia, Obesity, Disproportionate tall stature, Cognitive impairment OMIM:615300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Spasticity, Broad-based gait, Aggressive behavior OMIM:300958
Familial Multiple Nevi Flammei
Cerebral calcification, Skin ulcer, Seizure ORPHA:624
Adult Polyglucosan Body Disease
Dementia, Ataxia, Distal sensory impairment, Gait disturbance, Skin ulcer ORPHA:206583
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Photophobia, Nyctalopia OMIM:617547
Free Sialic Acid Storage Disease
Athetosis, Ataxia, Gait disturbance, Skin ulcer, Seizure ORPHA:834
Chilblain Lupus
Skin ulcer ORPHA:90280
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Simple ear, Rhombencephalosynapsis, Dilated fourth ventricl... OMIM:619306
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior, Short stature, Clumsiness OMIM:300558
Bardet-Biedl Syndrome 8
Cognitive impairment, Obesity OMIM:615985
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Lethargy, Progressive neurologic deterioration, Increased body weight,... ORPHA:263455
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Anosmia OMIM:614837
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Penetrating foot ulcers, Dementia, Degeneration of anterior horn cells, Decreased nerve conductio... OMIM:118301
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Clinodactyly, Anosmia OMIM:614838
Mucolipidosis Type Iv
Ataxia, Photophobia ORPHA:578
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Hyperactivity, Aggressive behavior OMIM:615541
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Xeroderma Pigmentosum Variant
Photophobia ORPHA:90342
Kohlschutter-Tonz Syndrome-Like
EEG abnormality, Stereotypical hand wringing, Lower limb spasticity, Ataxia, Focal myoclonic seiz... OMIM:619229
Jalili Syndrome
Color vision defect, Photophobia, Visual impairment ORPHA:1873
Oculocutaneous Albinism Type 1
Amblyopia, Photophobia, Reduced visual acuity ORPHA:352731
Dihydropyrimidine Dehydrogenase Deficiency
Large earlobe, Cerebral atrophy, EEG abnormality, Anteverted nares, Abnormal social behavior, Hyp... ORPHA:1675
Citrullinemia Type Ii
Memory impairment, Hyperactivity, Aggressive behavior, Lethargy, Irritability, Delayed menarche, ... ORPHA:247585
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Broad-based gait OMIM:614450
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Midnasal stenosis, Anterior hypopituitarism, Choanal atresia... OMIM:147250
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Photophobia, Myopia OMIM:242150
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia, Hearing impairment OMIM:615267
Tick-Borne Encephalitis
Cognitive impairment, Somatic sensory dysfunction, Fatigable weakness of respiratory muscles, Pho... ORPHA:297
Axial Spondylometaphyseal Dysplasia
Amblyopia, Dyschromatopsia, Photophobia, Reduced visual acuity ORPHA:168549
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Hydrane... ORPHA:2570
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Cockayne Syndrome Type 2
Ataxia, Photophobia, Visual impairment ORPHA:90322
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Anosmia, Sensorineural hearing impairment, Ataxia, Dec... OMIM:609136
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Spasticity, Aggressive behavior, Hyperactivity OMIM:615286
Hyperostosis Cranialis Interna
Tinnitus, Sensorineural hearing impairment, Chiari type I malformation, Hyposmia OMIM:144755
Familial Drusen
Paracentral scotoma, Visual loss, Photophobia, Metamorphopsia ORPHA:75376
Wiedemann-Steiner Syndrome
Low frustrat