Gene: Shank3 MGI:1930016

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Gene Summary

SH3 and multiple ankyrin repeat domains 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Shank3em1(IMPC)H HOM Early adult 5.82×10-05

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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.


XRay Images Whole Body Lateral Orientation

13 Images


XRay Images Whole Body Dorso Ventral

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
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618687
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Seizure, EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Seizure, EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Seizure, EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Seizure, EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Stereotypy OMIM:608636
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Hypercalcemia ORPHA:55881
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Posterior Cortical Atrophy
Inertia, Photophobia, Abnormality of vision, Ataxia, Color vision defect, Cerebral visual impairm... ORPHA:54247
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Aggressive behavior, Focal-onset seizure, Chorea, Poor coordination, Paro... OMIM:619150
Huntington Disease-Like 2
Dystonia, Depression, Chorea, Apathy, Action tremor, Bradykinesia, Weight loss, Irritability, Anx... OMIM:606438
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Depression, Chorea, Ataxia, Parkinsonism, Anxiety, Myoclonus, Upper motor neuro... ORPHA:401901
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Irritab... OMIM:172700
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hypsarrhythmia, Depression, Focal-onset seizure, Chorea, ... ORPHA:88616
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:275864
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Seizure, Status epilepticus, EEG abnormality, Stereotypy OMIM:239500
Huntington Disease
Dystonia, Memory impairment, Aggressive behavior, Apathy, Chorea, Degeneration of the striatum, A... ORPHA:399
Claustrophobia, Depression, Chorea, Agoraphobia, Separation insecurity, Emotional lability, Impul... ORPHA:66624
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure, Self-injurious behavior, Chorea, EEG abnormal... OMIM:618760
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Generalized myoclonic seizure OMIM:616341
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Spastic diplegia, Seizure, Status epilepticus, Stereotypy OMIM:617830
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Anxiety ORPHA:494541
Immunodeficiency 8
Hyperactivity OMIM:615401
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, D... OMIM:605361
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Anxiety, Ataxia, Reduced visual acuity OMIM:618970
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Atypical Rett Syndrome
Pill-rolling tremor, Dystonia, Panic attack, Spasticity, Inappropriate laughter, Inappropriate cr... ORPHA:3095
Huntington Disease-Like 1
Aggressive behavior, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Stereotypy OMIM:617787
Smith-Magenis syndrome
Self-mutilation, Short stature, Stereotypy, Hyperactivity DECIPHER:8
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Self-injurious behavior, Seizure, Clonic seizure, Polymicrogyria, Spastic tetraplegia... OMIM:615282
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Unsteady gait, Short stature, Stereotypy OMIM:614063
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Poor eye contact, Ataxia, Hyperactivity, Spasticity OMIM:300983
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Chilblain Lupus 1
Skin ulcer OMIM:610448
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Postnatal growth ret... ORPHA:309246
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition, Dementia, Hypoplasia of the corpus callosum, Gait disturb... OMIM:618193
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Dementia, Depression, Apathy, Hemiparesis, Irritab... OMIM:123400
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Inappropriate crying, Difficulty walki... ORPHA:561854
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Frontotemporal dementia, ... OMIM:600795
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Mental... OMIM:615924
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Spinocerebellar Ataxia, Autosomal Recessive 25
Cognitive impairment, Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Head tremor, Action tremor, Progressive... OMIM:604326
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Emotional lability, Focal myoclonic seizure, Bilatera... ORPHA:98818
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Apathy, Emotional lability, Babinski sign, Stereotypy, Spasticity OMIM:612069
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Intrauterine growth retardation, Impulsivity, Recurrent hand fla... ORPHA:100973
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Ataxia, Bradykinesia, Progressive cerebellar... ORPHA:248111
Distal 7Q11.23 Microdeletion Syndrome
Bipolar affective disorder, Aggressive behavior, Attention deficit hyperactivity disorder ORPHA:254351
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Usher Syndrome, Type Iiib
Photophobia, Truncal ataxia, Ataxia, Visual impairment OMIM:614504
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Short stature, Ataxia OMIM:617862
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Hypsarrhythmia, Seizure, Irritability, Stereotypical hand wringing, Spasticity ORPHA:500545
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Chorea, Hyperkinetic movements, Myo... OMIM:619317
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy OMIM:300271
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cognitive impairment, Obe... OMIM:614947
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... ORPHA:71517
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Ataxia, Color vision defect, Photophobia, Blind-spot enla... OMIM:616732
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Bradykinesia, Basal ganglia calcification, Generalized dysto... OMIM:618824
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Dysphagia, Poor coordination, Spasticity, Poo... OMIM:617695
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Lower ... ORPHA:3077
Retinitis Pigmentosa 81
Pallor OMIM:617871
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Depression, Chorea, Dysphagia, Ataxia, Irritability, Anxiety, Dysm... OMIM:618093
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior, Clinodactyly of the 5th toe, Primary microcephaly, Dysplas... OMIM:618010
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Stereotypy, Ataxia, Abnormality of neuronal migration OMIM:618709
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Narcolepsy Type 1
Slurred speech, Transient global amnesia, Cataplexy, Obesity ORPHA:2073
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Irritability, Stereotypy, Spasticity OMIM:617393
T2 hypointense thalamus, Dystonia, Emotional lability, Abnormal dentate nucleus morphology, Chore... ORPHA:157846
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Abnormal cerebellar vermis morphology, Dystonia, Type II lissencephal... ORPHA:300570
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Anxiety, Stereotypy, Hyperactivity OMIM:609425
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hypertonia, Spastic tetraparesis, Hemiparesis, Impulsivity, Hyperactivity OMIM:604317
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, C... OMIM:612716
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Hyperkinetic movements, Seizure, Stereotypical han... ORPHA:397933
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Head tremor, Torticollis, Abnormal motor neuron morphology, H... OMIM:613724
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Abnormal social behavior, Ata... ORPHA:391417
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, A... ORPHA:228360
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Stereotypy, Hy... OMIM:618718
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Depression, Bilateral tonic-clonic seizure, Interictal epileptiform activi... ORPHA:98784
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Tre... ORPHA:36387
Mental Retardation, Autosomal Recessive 39
Short stature, Aggressive behavior, Stereotypy, Hyperactivity OMIM:615541
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Focal-onset seizure, ... OMIM:618917
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Interictal epileptiform activity,... ORPHA:33069
Idiopathic Intracranial Hypertension
Visual loss, Diplopia, Abnormal emotion/affect behavior, Scintillating scotoma, Blurred vision, P... ORPHA:238624
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Dementia, Speech apraxia, Gait distur... ORPHA:454887
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Attention defi... OMIM:613670
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Visual impairment, Photophobia OMIM:303700
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Low frustration tolerance, Myoclonic seizure, Spasticity, Cortical myoclonus, EEG... ORPHA:168491
Color vision test abnormality, Tritanomaly, Photophobia, Reduced visual acuity ORPHA:88629
Cone Dystrophy 4
Photophobia, Dyschromatopsia, Visual impairment, Reduced visual acuity OMIM:613093
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Aggressive behavior, Spastic paraparesis, Incoordi... OMIM:615157
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Oculomotor apraxia, Ataxia, Somatic sensory dysfunction, Cognitive impairment, Obesity ORPHA:459033
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Visual impairment, Blurred vision, Reduced visual acuity OMIM:204870
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Interictal EEG... ORPHA:79264
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Impaired social interactions, Aggressive behavior, Ataxia, St... OMIM:610042
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Attention deficit hyperactivity disorder, Ataxia, Emotional lability OMIM:614306
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Myoclonus, Hyperactivity, Mental deterioration ORPHA:2382
Bardet-Biedl Syndrome 12
Cognitive impairment, Obesity OMIM:615989
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Optic Atrophy 12
Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity OMIM:618977
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Knee clonus, Ataxia, Ankle clonus, Spastic gait, Lower limb spasticity, Impai... OMIM:604360
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Visual impairment, Congenital stationary night blindness OMIM:610427
Mohr-Tranebjaerg Syndrome
Reduced visual acuity, Myopia, Cerebral visual impairment, Constriction of peripheral visual fiel... OMIM:304700
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Overweight, Difficulty walking, Waddling gait, Stereotypy, Babinski sign, Prog... ORPHA:280763
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Visual impairment, Reduced visual acuity OMIM:608194
Trisomy X
Tremor, Depression, Anxiety, Cognitive impairment, Attention deficit hyperactivity disorder ORPHA:3375
Mental Retardation, Autosomal Recessive 41
Seizure, Anxiety, Stereotypy OMIM:615637
Optic Atrophy 6
Red-green dyschromatopsia, Photophobia, Visual impairment OMIM:258500
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Generalized tonic seizure, Focal emotional seizure with lau... ORPHA:178469
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Conductive hearing impairment, Thick nasal alae, Wide nasal b... ORPHA:557003
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Cdkl5-Deficiency Disorder
Inappropriate laughter, Difficulty walking, Poor eye contact, Gait disturbance, Growth delay, Imp... ORPHA:505652
Achromatopsia 7
Central scotoma, Achromatopsia, Photophobia, Reduced visual acuity OMIM:616517
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Macular Dystrophy, Vitelliform, 3
Photophobia, Visual impairment, Metamorphopsia, Reduced visual acuity OMIM:608161
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Spastic diplegia, Emotional lability, Neuromuscular dysphagia, Progressive inability ... ORPHA:206443
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Aggressive behavior, Abnormali... ORPHA:500180
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Abnormal nervous system electrophysiology, Myocl... OMIM:256731
Cone-Rod Dystrophy 17
Central scotoma, Photophobia, Visual impairment OMIM:615163
Photophobia, Reduced visual acuity, Central scotoma, Myopia, Color vision defect, Hypermetropia, ... ORPHA:49382
Cone Dystrophy 3
Photophobia, Progressive visual loss, Reduced visual acuity OMIM:602093
Rolandic Epilepsy
Paresthesia, Depression, Dysesthesia, Emotional lability, Anxiety, Attention deficit hyperactivit... ORPHA:1945
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Disinhibition, Dementia, Depression, Poor fine ... OMIM:300623
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Aggressive beh... ORPHA:83597
Cone-Rod Dystrophy 5
Color vision defect, Photophobia, Reduced visual acuity OMIM:600977
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Progressive Cone Dystrophy
Color vision defect, Photophobia, Visual impairment ORPHA:1871
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Temporal cortical atrophy, Frontal cortical atrophy, Partial absenc... ORPHA:137831
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Bardet-Biedl Syndrome 18
Cognitive impairment, Obesity OMIM:615995
Young-Onset Parkinson Disease
Impaired social interactions, Tremor, Dystonia, Dementia, Depression, Apathy, Bradykinesia, Panic... ORPHA:2828
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, EEG with spike-wave complexes, Interictal EEG abnorma... ORPHA:363558
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Hypertonia, Chorea, Abnormal pyramidal sign, Spastic tetraparesis, Pa... OMIM:272750
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Chorea, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Dysphagia, Death in childhood, Anxiety, Stereotypy, P... DECIPHER:45
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Myopia, Color vision defect, Visual impairment, Photophobia OMIM:304020
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Progressive visual loss OMIM:180020
Autism, Susceptibility To, 3
Seizure, EEG abnormality, Stereotypy OMIM:608049
Photophobia, Visual impairment ORPHA:75374
Blue Cone Monochromatism
Photophobia, Visual impairment, Blue cone monochromacy ORPHA:16
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Classic Phenylketonuria
Hemiplegia, Tremor, Depression, Self-injurious behavior, Hypertonia, Growth delay, Motor deterior... ORPHA:79254
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Hyperkinetic movements, Bilateral tonic-clonic seiz... OMIM:271980
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Inappropriate laughter, Dysphagia, Death in early adulthoo... ORPHA:85278
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Self-injurious ... ORPHA:208447
Albinism, Oculocutaneous, Type Vi
Photophobia, Visual impairment, Reduced visual acuity OMIM:113750
Mental Retardation, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Gait disturbance, Ataxia, Intrauterine growth retardation... OMIM:614104
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Depression, Upper limb spasticity, Gait disturbance, Hyperkinetic moveme... ORPHA:457240
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Dementia, Cerebral atrophy, Ataxia, Cere... ORPHA:1947
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Obesity, Lower limb spasticity, Waddling gait, Broad-based gait OMIM:616756
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Distal upper limb muscle weak... ORPHA:79139
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Dyschromatopsia, Reduced visual acuity OMIM:610024
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Progressive Supranuclear Palsy
Tremor, Dystonia, Dementia, Depression, Abnormal synaptic transmission, Blepharospasm, Bradykines... ORPHA:683
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Perry Syndrome
Dystonia, Tremor, Disinhibition, Rigidity, Akinesia, Depression, Apathy, Frontotemporal dementia,... OMIM:168605
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Disinhibition, Dementia, Abnormal social behavior, Hypertonia, Oculomotor apraxia, Ataxi... ORPHA:1020
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Aggressive behavior, Dementia, Disinhibition, Paraparesis, Gait distu... ORPHA:43
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Cone Rod Dystrophy
Color vision defect, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Bardet-Biedl Syndrome 10
Cognitive impairment, Obesity OMIM:615987
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Apathy, Limb ataxi... ORPHA:135
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Mucolipidosis Iv
Progressive neurologic deterioration, Photophobia, Visual impairment OMIM:252650
Kufor-Rakeb Syndrome
Tremor, Dystonia, Aggressive behavior, Dementia, Akinesia, Gait disturbance, Anosmia, Ataxia, Bra... OMIM:606693
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Hypopla... OMIM:618646
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Prog... ORPHA:363400
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Dementia, Depression, Progressive gait ataxia, Difficulty walking, Progress... ORPHA:309271
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormal eatin... ORPHA:544254
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Nyctalopia, Mild myopia, Hypermetropia OMIM:617024
Episodic Ataxia Type 6
Photophobia, Diplopia, Ataxia, Reduced visual acuity ORPHA:209967
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Impaired distal proprioception, Gait ataxia, Impaired vibratory sensation,... ORPHA:70595
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Poor eye contact, Spasticity, Unsteady gait, Stereotyp... OMIM:617807
Superficial Siderosis
Dysdiadochokinesis, Impaired pain sensation, Paresthesia, Dementia, Progressive gait ataxia, Limb... ORPHA:247245
Bardet-Biedl Syndrome 5
Cognitive impairment, Obesity OMIM:615983
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Photophobia OMIM:610381
2Q23.1 Microdeletion Syndrome
Polyphagia, Self-injurious behavior, Growth delay, Ataxia, Paroxysmal bursts of laughter, Stereot... ORPHA:228402
Dyskinesia, Familial, With Facial Myokymia
Anxiety, Chorea, Dystonia, Resting tremor OMIM:606703
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Tremor, Lethargy, Increased body weight ORPHA:276608
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Visual impairment, Reduced visual acuity OMIM:614186
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Poo... OMIM:103050
Childhood Absence Epilepsy
Low self esteem, Febrile seizure (within the age range of 3 months to 6 years), Depression, Pundi... ORPHA:64280
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, EEG wit... ORPHA:289266
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Intention tremor, Dysphagia, Brady... OMIM:610217
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Polyphagia, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Hereditary Late-Onset Parkinson Disease
Dystonia, Dementia, Depression, Akinesia, Apathy, Lewy bodies, Resting tremor, Bradykinesia, Cere... ORPHA:411602
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Anxiety, Attention deficit hyperactivity disorder OMIM:618906
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia OMIM:169150
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Dementia, Ataxia, Cerebral cortical atrophy, EEG ab... ORPHA:2047
Retinitis Pigmentosa 37
Red-green dyschromatopsia, Photophobia, Nyctalopia, Tritanomaly OMIM:611131
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum, Anosmia, Choanal atresia, Clinodactyly, Sensorineural hearing impair... OMIM:147950
Albinism, Oculocutaneous, Type Vii
Photophobia OMIM:615179
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Cognitive impairment, Obesity OMIM:619058
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Delayed social development, Gait ataxia, Ataxia, Dysmetria, Intention tremor,... ORPHA:208513
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Hypoplasia of the corpus callosum, Abnormal social behavior, Bilateral single t... ORPHA:444002
Sotos Syndrome 3
Hyperactivity OMIM:617169
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Prog... ORPHA:309263
Myoclonic-Astatic Epilepsy
Impaired social interactions, Tremor, Abnormal emotion/affect behavior, Abnormal pyramidal sign, ... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Nyctalopia, Photophobia OMIM:616079
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity OMIM:616502
Oligocone Trichromacy
Photophobia ORPHA:75378
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Emotional lability, Anxiety, Stereotypy, Cognitive impairment, Paraplegia ORPHA:927
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety... ORPHA:3198
Dystonia, Disinhibition, Aggressive behavior, Dementia, Tics, Dysphagia, Self-mutilation of tongu... OMIM:200150
Postaxial hand polydactyly, Absent septum pellucidum, Low-set, posteriorly rotated ears, Arrhinen... ORPHA:2189
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Upper limb spasticity, Chorea, Self-... ORPHA:485350
Cone-Rod Dystrophy 15
Nyctalopia, Color vision defect, Constriction of peripheral visual field, Progressive visual loss... OMIM:613660
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Psychomotor deterioration, Gait disturbance, Abnormal pyramidal sign,... ORPHA:35069
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cone-Rod Dystrophy, X-Linked, 3
Reduced visual acuity, Central scotoma, Myopia, Color vision defect, Visual impairment, Photophobia OMIM:300476
Tremor, Gait ataxia, Dystonia, Akinesia, Apathy, Chorea, Limb ataxia, Blepharospasm, Abnormal tha... ORPHA:48818
Hartnup Disease
Abnormality of vision, Ataxia, Emotional lability, Anxiety, Photophobia ORPHA:2116
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity OMIM:613826
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Spasticity, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, ... OMIM:300912
Tonne-Kalscheuer Syndrome
Tremor, Shyness, Aggressive behavior, Dysphagia, Self-injurious behavior, Growth delay, Anxiety, ... OMIM:300978
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Infantile Krabbe Disease
Progressive neurologic deterioration, Visual loss, Psychomotor deterioration, Blindness, Irritabi... ORPHA:206436
Jalili Syndrome
Monochromacy, Photophobia, Nyctalopia OMIM:217080
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral cortical a... OMIM:619072
Episodic Ataxia, Type 6
Photophobia, Episodic ataxia, Diplopia, Truncal ataxia OMIM:612656
Leber Congenital Amaurosis 14
Congenital blindness, Nyctalopia, Photophobia, Reduced visual acuity OMIM:613341
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Leber Congenital Amaurosis 2
Blindness, Photophobia, Reduced visual acuity OMIM:204100
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Photophobia, Gait ataxia ORPHA:438134
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Visual impairment, Reduced visual acuity OMIM:610478
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Involuntary movements, Hemiparesis, Emotional lability, Irritabi... ORPHA:1929
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric crisis, Irritab... OMIM:608643
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Mild postnatal growth retardation, Stereotypy, Upper motor neur... ORPHA:530983
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Myopia, Scotoma OMIM:610356
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, Inappropriate laughter, Recurrent hand flapping, Spasticity OMIM:618859
Postorgasmic Illness Syndrome
Photophobia, Irritability, Blurred vision ORPHA:279947
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Progressive visual loss, Reduced visual acuity OMIM:614500
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Retinitis Pigmentosa
Progressive night blindness, Blindness, Visual impairment, Photophobia, Obesity ORPHA:791
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Dysphagia, Ataxia, Abnormal eating behavior, Happy demeanor, Tong... ORPHA:98794
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Hypsarrhythmia, Atonic seizure, Multifocal epileptiform discharges, Ge... ORPHA:411986
Developmental And Epileptic Encephalopathy 87
Hypsarrhythmia, Hypertonia, Seizure, Recurrent hand flapping, Infantile spasms OMIM:618916
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Tay-Sachs Disease
Inability to walk, Progressive spasticity, Dystonia, Tremor, Clumsiness, Incoordination, Depressi... ORPHA:845
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Seizure, Anxiety, Stereotypy ORPHA:397612
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Microphthalmia, Isolated 5
Nyctalopia, Reduced visual acuity, Visual impairment, Hypermetropia, Photophobia OMIM:611040
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617460
Buerger Disease
Skin ulcer ORPHA:36258
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Seizure, Self-injurious behavior, EEG abnormality, Recurrent hand flapping OMIM:617268
Lyme Disease
Memory impairment, Amaurosis fugax, Paresthesia, Photophobia ORPHA:91546
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Retinitis Pigmentosa 32
Photophobia, Nyctalopia, Reduced visual acuity OMIM:609913
Parkinson Disease 8, Autosomal Dominant
Dementia, Lewy bodies, Bradykinesia, Resting tremor, Hyposmia, Substantia nigra gliosis OMIM:607060
Spinocerebellar Ataxia Type 7
Dysdiadochokinesis, Visual loss, Reduced visual acuity, Hemeralopia, Ataxia, Somatic sensory dysf... ORPHA:94147
Irvan Syndrome
Vitreous floaters, Photophobia, Blurred vision, Reduced visual acuity ORPHA:209943
Mehmo Syndrome
Inability to walk, Gait ataxia, Difficulty walking, Spastic tetraparesis, Obesity, Small for gest... OMIM:300148
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Leber Congenital Amaurosis 1
Blindness, Photophobia, Reduced visual acuity OMIM:204000
Achromatopsia 3
Achromatopsia, Dyschromatopsia, Severely reduced visual acuity, High myopia, Monochromacy, Photop... OMIM:262300
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Acral ulceration, Impaired pain sens... ORPHA:139578
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Short stature, Repetitive compulsive behavior, Cerebral pa... ORPHA:352490
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Timothy Syndrome
Hypocalcemia OMIM:601005
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, 2-3 finger syndactyly, Broad thumb, Cerebral white matter atr... ORPHA:435638
Mental Retardation, Autosomal Recessive 61
Spasticity, Aggressive behavior, Babinski sign, Hyperactivity OMIM:617773
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ankle clonus, Ataxia, Lower limb spast... OMIM:618598
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder, Proportionate shor... OMIM:617044
Birdshot Chorioretinopathy
Visual loss, Arcuate scotoma, Blurred vision, Vitreous floaters, Photophobia, Blind-spot enlargment ORPHA:179
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Short stature, Hyperactivity OMIM:618342
Mohr-Tranebjaerg Syndrome
Visual loss, Dementia, Central scotoma, Color vision defect, Cerebral visual impairment, Visual i... ORPHA:52368
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Inappropriate crying, Spasticity, Tongue thrusting, Focal hyperkinetic seizu... ORPHA:77299
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Gorlin Syndrome
Palmar pits, Wide nasal bridge, Cerebral calcification, Abnormality of the sense of smell, Brachy... ORPHA:377
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Happy demeanor, Hyperactivity, Broad-based gait OMIM:617865
Hair-pulling OMIM:613229
48,Xxyy Syndrome
Tremor, Depression, Ataxia, Anxiety, Stereotypy, Attention deficit hyperactivity disorder ORPHA:10
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Absent septum pellucidum, Anosmia, Anterior pituitary hypop... ORPHA:3157
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Depression, Stereotypical body rocking, Poor eye contact, Impulsivity, Anxie... ORPHA:293939
Leigh Syndrome
Progressive neurologic deterioration, Focal T2 hyperintense basal ganglia lesion, Dystonia, Macro... ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Delayed puberty, Short stature, Hyperactivity, Mood swings OMIM:300354
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy, Obesity OMIM:613886
Amoebiasis Due To Free-Living Amoebae
Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Abnormalit... ORPHA:68
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Growth delay, Hyperactivity, Tetraplegia OMIM:274270
Focal T2 hypointense thalamic lesion, Difficulty walking, Enlarged pituitary gland, Hypothalamic ... ORPHA:2495
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Bardet-Biedl Syndrome 16
Cognitive impairment, Obesity OMIM:615993
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Low f... ORPHA:646
Corneal Dystrophy, Reis-Bucklers Type
Photophobia OMIM:608470
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Depression, Chorea, Dysphagia, Poor eye contact, Pain insensitivity, Hostility... OMIM:300260
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Short distal phalanx of finger, Hearing impairment, Microcephaly, Short nasa... OMIM:302950
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Polyphagia, Dysphagia, Se... ORPHA:72
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Hypertonia, Ataxia, Short statur... OMIM:601853
Thiel-Behnke Corneal Dystrophy
Slow decrease in visual acuity, Photophobia ORPHA:98960
Boucher-Neuhauser Syndrome
Photophobia, Gait ataxia, Ataxia, Progressive visual loss OMIM:215470
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Hypertonia, Growth de... OMIM:123450
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Irritability, Pallor, Skin ulcer ORPHA:848
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Difficulty walking, Hypoplasia of the corpus callosum, Abnormal cerebral white... ORPHA:254930
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Obesity OMIM:615418
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Aplasi... ORPHA:3201
Rett Syndrome, Congenital Variant
Apraxia, Pachygyria, Inappropriate crying, Chorea, Seizure, Irritability, EEG abnormality, Stereo... OMIM:613454
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Rigidity, Akinesia, Dementia, Abnormality of extrapyra... OMIM:234200
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Dysphagia, Ataxia, Abnormal eating behavior, Happy demeanor, Tongue thrus... ORPHA:411511
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Smith-Magenis Syndrome
Self-mutilation, Head-banging, Stereotypy, Impaired pain sensation, Hyperactivity, Short stature OMIM:182290
Neovascular Glaucoma
Visual acuity test abnormality, Photophobia, Visual loss ORPHA:94058
Hair-pulling, Hypertonia, Head titubation, Emotional lability, Head-banging, Progressive inabilit... ORPHA:2388
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Dystonia, Aggressive behavior, Gait disturbance, Stereotypy, Poor h... OMIM:300352
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Cerebellar cyst, Olivopontocerebellar ... ORPHA:370959
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Bardet-Biedl Syndrome 19
Polydactyly, Hyposmia OMIM:615996
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Irritability, Short stature, Stereotypy, Hyperactivity ORPHA:391307
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Coffin-Siris Syndrome 6
Tics, Anxiety, Stereotypy, Short stature, Attention deficit hyperactivity disorder OMIM:617808
Radio-Tartaglia Syndrome
Tremor, Aggressive behavior, Dysphagia, Poor eye contact, Ataxia, Impulsivity, Stereotypy, Gait i... OMIM:619312
Meningococcal Meningitis
Photophobia, Irritability, Paresthesia ORPHA:33475
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial... ORPHA:404440
Xeroderma Pigmentosum, Complementation Group A
Mental deterioration, Photophobia, Choreoathetosis, Ataxia OMIM:278700
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Abnormality of extrapyramidal motor function, Toe walking, Emotional lability, Impulsiv... ORPHA:157850
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Distal sensory impairment, Obesity OMIM:618124
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Spasticity, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Short phalanx of finger, Short nose, Finger syndactyly, Polydactyly, Low-set, posteriorly rotated... ORPHA:59315
Aplasia/Hypoplasia of the cerebellum, Abnormality of the antihelix, Dystonia, Spinal dysraphism, ... ORPHA:2162
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Dysphagia, Gait disturbance, Spast... ORPHA:139396
Tay-Sachs Disease
Dementia, Apathy, Psychomotor deterioration, Hypertonia, Exaggerated startle response OMIM:272800
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Dementia, Dysesthesia, Depression, Dysphagia, Gait disturbance, Ataxia, Bra... ORPHA:93256
Optic Atrophy 11
Hyperkinetic movements, Ataxia, Dysmetria, Short stature, Hyperactivity OMIM:617302
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Spasticity, Aggressive behavior, Short stature, Hyperactivity OMIM:615286
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Anxiety, Stereotypy, Attention deficit hyperactivit... ORPHA:313892
Sjögren-Larsson Syndrome
Photophobia, Myopia ORPHA:816
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Skin ulcer ORPHA:231
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Aggressive behavior, Growth delay, Spastic gait, Spastic tetraplegia, Dysmetria, ... OMIM:619121
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Ataxia, Obesity, Unsteady gait, Lower limb spasticity, Waddling gai... ORPHA:464282
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Dyschromatopsia, Progressive psychomotor deterioration, Progressive visual lo... ORPHA:251004
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Nonprogressive cerebellar ataxia, Bulbous nose, Abnormal social behavior, Hy... ORPHA:314647
Classic Mycosis Fungoides
Dry skin, Skin ulcer, Erythema ORPHA:2584
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Progressive gait ataxia, Abnormal social behavior, Toe walking... ORPHA:309256
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Growth delay, Self-biting, Stereotypy, Hyperactivity ORPHA:3306
Tremor, Lethargy, Paresthesia, Abnormality of pain sensation, Increased body weight, Transient gl... ORPHA:97279
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, Abnormal thalamic MRI signal intensity, Cerebellar atrophy, EEG abnormality, Decr... ORPHA:485421
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Anosmia, Distal sensory impairm... OMIM:601152
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Growth delay, Stereotypy, Intrauterine growth retardation ORPHA:238750
Axial Spondylometaphyseal Dysplasia
Photophobia, Visual impairment ORPHA:168549
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Progressive sensorineural hearing impairment, Paresthesia, Sh... ORPHA:2959
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Johnson Neuroectodermal Syndrome
Preaxial hand polydactyly, Hand polydactyly, Bulbous nose, Conductive hearing impairment, Atresia... ORPHA:2316
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Leber Congenital Amaurosis 9
Photophobia, Nyctalopia, Hypermetropia OMIM:608553
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
De Sanctis-Cacchione Syndrome
Mental deterioration, Photophobia, Choreoathetosis, Ataxia OMIM:278800
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia, Small pituitary gland OMIM:612702
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Abnormal pyramidal sign, Intrauterine growth retardation, Hyperactivity, Tet... ORPHA:369939
Neuropathy, Hereditary Sensory And Autonomic, Type Ic