banner
Genes Phenotypes Help, News, Blog

Gene: Shank3 MGI:1930016

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Shank3em1(IMPC)H HOM Early adult 4.51×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

76 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Phelan-Mcdermid Syndrome
Impaired pain sensation, Impaired social interactions, Unsteady gait, Bruxism, Tongue thrusting, ... OMIM:606232
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Cerebellar cortical atrophy, Hearing impairment, Macrotia,... ORPHA:48652

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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Severe Primary Trimethylaminuria
Emotional lability, Obsessive-compulsive trait, Anxiety, Low self esteem, Aggressive behavior, Ne... ORPHA:468726
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Obsessive-Compulsive Disorder
Collectionism, Anxiety, Skin-picking, Depression, Compulsive behaviors OMIM:164230
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms, EEG abnormality, Seizure OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms, EEG abnormality, Seizure OMIM:300425
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Chorea, Benign Hereditary
Anxiety, Gait disturbance, Chorea OMIM:118700
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure, Abnormal... OMIM:617171
Autism
Abnormal repetitive mannerisms, EEG abnormality, Seizure OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms, EEG abnormality, Seizure OMIM:607373
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Shyness OMIM:618221
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Adamantinoma
Hypercalcemia ORPHA:55881
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Dysmetria OMIM:619191
Posterior Cortical Atrophy
Color vision defect, Ataxia, Abnormality of vision, Anxiety, Inertia, Memory impairment, Cerebral... ORPHA:54247
Persistent Idiopathic Facial Pain
Impaired pain sensation, Paresthesia, Somatic sensory dysfunction, Anxiety, Depression ORPHA:398147
Gilles De La Tourette Syndrome
Self-mutilation, Motor tics, Phonic tics, Aggressive behavior, Compulsive behaviors OMIM:137580
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Manganese Poisoning
Emotional lability, Impairment in personality functioning, Gait disturbance, Inappropriate laught... ORPHA:306682
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Huntington Disease-Like 2
Apathy, Anxiety, Inertia, Chorea, Irritability, Bradykinesia, Action tremor, Depression, Dystonia... OMIM:606438
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Memory impairment, Depression, Ga... ORPHA:98764
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Huntington Disease-Like 1
Unsteady gait, Restlessness, Anxiety, Chorea, Aggressive behavior, Depression, Dysmetria OMIM:603218
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Seizure, Bilateral tonic-clonic seizure OMIM:608636
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Ataxia, Bruxism, Inappropriate laughter, Chorea, Abnormal repetitive mannerisms, Aggressiv... OMIM:619150
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Self-injurious behavior, Abnormal repetitive mannerisms, Pica... OMIM:617270
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Reduced visual acuity, Anxiety, Photophobia, Ataxia OMIM:618970
Hereditary Geniospasm
Intention tremor, Abnormal social behavior ORPHA:53372
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions, Aggressive behavior OMIM:618103
Dystonia 11, Myoclonic
Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression OMIM:159900
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Abnormal ... OMIM:616341
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Jeavons Syndrome
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with generalized onset, Interic... ORPHA:139431
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms, EEG abnormality, Seizure OMIM:300495
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Hyperprolinemia, Type I
Status epilepticus, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Morm Syndrome
Visual impairment, Truncal obesity, Progressive night blindness, Photophobia, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Seizure OMIM:617787
Dystonia 12
Emotional lability, Torticollis, Unsteady gait, Anxiety, Tremor, Bradykinesia, Depression, Dystonia OMIM:128235
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Dementia, Chorea ORPHA:494541
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Impaired social interactions, Inability to walk, Self-injurious behavior, Abnormal repetitive man... OMIM:617820
Hartnup Disorder
Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Geniospasm 1
Anxiety OMIM:190100
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Gait disturbance, Apathy, Restlessness, Collectionism, Disinhibition, Abu... ORPHA:275864
Spinocerebellar Ataxia 21
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Apathy, Cognitive impairment, Postural tremor... OMIM:607454
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Ataxia, Cognitive impairment, Anxiety, Memory impairment, Chorea, Tremor,... ORPHA:401901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Gait disturbance, Apathy, Restlessness, Disinhibition, Frontotemporal dem... OMIM:600795
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Thalamic calcification, Hand tremor, Cognitive impairment, Anxiety, Postural tremor, Deme... OMIM:615483
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Inability to walk, Leg dystonia, Gait disturbance, Difficulty wa... ORPHA:255
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Focal impaired... OMIM:616056
Perry Syndrome
Inappropriate behavior, Apathy, Suicidal ideation, Short stepped shuffling gait, Disinhibition, A... OMIM:168605
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Seizure, Hypsarrhythmia, Status epilepticus OMIM:617830
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Tremor, Waddling ... OMIM:616269
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Broad-based gait, Short stature, Abnormal repetitive mannerisms, ... OMIM:614063
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions, Inability to walk OMIM:606053
Foxg1 Syndrome
Impaired social interactions, Inability to walk, Difficulty walking, Severe postnatal growth reta... ORPHA:561854
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... OMIM:172700
Huntington Disease
Inability to walk, Suicidal ideation, Apathy, Gait disturbance, Difficulty walking, Anxiety, Memo... ORPHA:399
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Rapid-Onset Dystonia-Parkinsonism
Emotional lability, Limb dystonia, Torticollis, Anxiety, Gait ataxia, Bradykinesia, Resting tremo... ORPHA:71517
Juvenile Huntington Disease
Dystonia, Progressive cerebellar ataxia, Ataxia, Hyperactivity, Dementia, Irritability, Chorea, G... ORPHA:248111
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Myoclonus-Dystonia Syndrome
Limb myoclonus, Anxiety, Depression, Compulsive behaviors, Panic attack, Myoclonus, Personality d... ORPHA:36899
Frontotemporal Dementia
Apathy, Inappropriate laughter, Dementia, Frontal lobe dementia, Irritability, Frontotemporal dem... OMIM:600274
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Short stature, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms, Recurrent han... OMIM:617862
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Abnormal repetitive mannerisms, Aggressive behavior, Broad-based gait OMIM:619470
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Central scotoma, Ataxia, Blind-spot enlargment, Reduced visual acuity, Photo... OMIM:616732
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Anxiety, Dysdiadochokinesis, Head tremor, Action t... OMIM:604326
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Neurodegeneration With Brain Iron Accumulation 5
Anxiety, Dementia, Tremor, Bradykinesia, Mental deterioration, Akinesia, Aggressive behavior, Dys... OMIM:300894
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Polymicrogyria, Clonic seizure, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms OMIM:615282
Childhood Disintegrative Disorder
Impaired social interactions, Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Dem... ORPHA:168782
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Impaired social interactions, Kinetic tremor, Torticollis OMIM:611092
Developmental And Epileptic Encephalopathy 56
Obsessive-compulsive trait, Status epilepticus, Myoclonic seizure, EEG abnormality, Focal motor s... OMIM:617665
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Motor neuron atrophy, Abnormal neuron morphology, Apathy, Falls, Short st... ORPHA:412066
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Falls, Anxiety, Memory impairment, Tremor, Bradykinesia, Mental deterioration, Neuromuscu... ORPHA:240085
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Bruxism, Paroxysmal bursts of laughter, Self-injurious behavior... OMIM:618718
Spinocerebellar Ataxia 48
Ataxia, Anxiety, Cachexia, Irritability, Chorea, Tremor, Gait ataxia, Depression, Dystonia, Dysme... OMIM:618093
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Loss of ambulation, Dementia, ... ORPHA:240094
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Seizure OMIM:300271
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, EEG abnormality, Self-injurious behavior, Stereotypical hand wringing, Convu... OMIM:618760
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Hyposmia, Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduction ve... OMIM:613724
Corticobasal Syndrome
Limb dystonia, Gait disturbance, Somatic sensory dysfunction, Dementia, Memory impairment, Tremor... ORPHA:454887
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Bradykinesia, Resting tremor, Depression, Dystonia OMIM:605909
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms, Seizure, Tonic seizure, Clonic seizure OMIM:620033
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, EEG abnormality, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic ... OMIM:618141
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Generalized clonic sei... ORPHA:98818
Usher Syndrome, Type Iiib
Photophobia, Visual impairment, Truncal ataxia OMIM:614504
Kufor-Rakeb Syndrome
Distal sensory impairment, Torticollis, Gait disturbance, Ataxia, Dementia, Tremor, Bradykinesia,... OMIM:606693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent hand flapping... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent hand flapping... ORPHA:100973
Leber Congenital Amaurosis 2
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia OMIM:204100
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Gait ataxia, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Idiopathic Intracranial Hypertension
Diplopia, Blurred vision, Abnormal emotion/affect behavior, Visual loss, Photophobia, Scintillati... ORPHA:238624
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb dystonia, Limb ataxia, Thalamic calcification, Generalized dystonia, Mental deterioration, B... OMIM:618824
Atypical Rett Syndrome
Impaired pain sensation, Stereotypical hand wringing, Impaired social interactions, Gait disturba... ORPHA:3095
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Seizure, Abnormality of neuronal migration OMIM:618709
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, EEG with generalized epileptiform discharges, Flexion contracture of toe... OMIM:619323
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Hypoesthesia, Thalamic calcification, Ataxia, Memory impairment, Chorea, Mental deterioration, Br... OMIM:618317
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Blue Cone Monochromacy
Visual impairment, Reduced visual acuity, Photophobia, Blue cone monochromacy, Myopia OMIM:303700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Impaired social interactions, Limb ataxia, Dystonia, Ataxia, Cognitive impairment, Anxiety, Dysdi... OMIM:615157
Tritanopia
Reduced visual acuity, Tritanomaly, Photophobia, Color vision test abnormality ORPHA:88629
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Febrile seizure (within the ... ORPHA:101039
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia OMIM:615924
Mohr-Tranebjaerg Syndrome
Constriction of peripheral visual field, Visual impairment, Myopia, Mental deterioration, Reduced... OMIM:304700
Hereditary Late-Onset Parkinson Disease
Dystonia, Low frustration tolerance, Apathy, Agitation, Dementia, Dysphagia, Bradykinesia, Mental... ORPHA:411602
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Baker-Gordon Syndrome
Inability to walk, Ataxia, Self-injurious behavior, Abnormal repetitive mannerisms, Choreoathetos... OMIM:618218
Corneal Dystrophy, Gelatinous Drop-Like
Reduced visual acuity, Photophobia, Blurred vision, Visual impairment OMIM:204870
Rolandic Epilepsy
Emotional lability, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Febrile... ORPHA:1945
Classic Progressive Supranuclear Palsy Syndrome
Falls, Blepharospasm, Axial dystonia, Tremor, Bradykinesia, Mental deterioration, Gait imbalance,... ORPHA:240071
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with generalized epileptiform discharges, T2 hypointense thalamus, Inability to walk, Ataxia,... ORPHA:1947
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Sh... ORPHA:309246
Leber Congenital Amaurosis 1
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia OMIM:204000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Hyperactivity, Tremor, Gait ataxia, Delayed social developme... OMIM:618090
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior, Tremor, Dysphagia, Postnatal growth retardati... ORPHA:391417
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Short stature,... ORPHA:3077
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Cognitive impairment, Tremor, Gait ataxia, Akinesia ORPHA:98773
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Macular Dystrophy, Vitelliform, 3
Color vision defect, Visual impairment, Metamorphopsia, Reduced visual acuity, Photophobia OMIM:608161
Cone Dystrophy 4
Reduced visual acuity, Photophobia, Dyschromatopsia, Visual impairment OMIM:613093
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Focal-onset seizure, Tonic seizure, Irritability, Nocturnal seizures, Seizure, ... OMIM:617393
Optic Atrophy 12
Reduced visual acuity, Photophobia, Abnormal Ishihara plate test, Dyschromatopsia OMIM:618977
Migraine, Familial Hemiplegic, 3
Blindness, Phonophobia, Photophobia OMIM:609634
Intellectual Developmental Disorder, Autosomal Dominant 7
Gait disturbance, Hyperactivity, Ataxia, Inappropriate laughter, Intrauterine growth retardation,... OMIM:614104
Christianson Syndrome
Death in early adulthood, Dystonia, Conspicuously happy disposition, Inappropriate laughter, Dysp... ORPHA:85278
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Visual impairment, Congenital stationary night blindness OMIM:610427
Cln5 Disease
Obsessive-compulsive trait, Inability to walk, Unsteady gait, Ataxia, Hyperactivity, Anxiety, Dys... ORPHA:228360
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Focal-onset seizure, Myoclonic seizure, Focal hemiclonic seizure, Toni... OMIM:619317
Cone-Rod Dystrophy 13
Reduced visual acuity, Color vision defect, Photophobia, Visual impairment OMIM:608194
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Suicidal ideation, EEG with focal spikes, Anxiety, Bilateral tonic-cl... ORPHA:98784
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Attention deficit hyperactivity disor... OMIM:617695
Optic Atrophy 6
Photophobia, Visual impairment, Red-green dyschromatopsia OMIM:258500
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior, Mental deterioration, Personality disorder ORPHA:2382
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Anxiety, Attention deficit hyperactivity disorder, Motor tics, Chorea, Bradykinesia, Inte... OMIM:619725
Achromatopsia
Color vision defect, Central scotoma, Hypermetropia, Myopia, Reduced visual acuity, Color vision ... ORPHA:49382
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Self-injurious behavior, Gait ataxia, Stereotypical hand wringing, Abn... OMIM:618917
Achromatopsia 7
Reduced visual acuity, Photophobia, Central scotoma, Achromatopsia OMIM:616517
Cone-Rod Dystrophy 5
Reduced visual acuity, Color vision defect, Photophobia, Central scotoma OMIM:600977
Autism, Susceptibility To, 3
Abnormal repetitive mannerisms, EEG abnormality, Seizure OMIM:608049
Postencephalitic Parkinsonism
Paresthesia, Oculogyric crisis, Abnormal aggressive, impulsive or violent behavior, Dysphagia, Br... ORPHA:97349
Cone-Rod Dystrophy 17
Photophobia, Central scotoma, Visual impairment OMIM:615163
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with seri... ORPHA:168491
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Death in infancy, Irritability, Lethargy, Aggressive behavior, Impul... OMIM:605899
Fragile X Tremor/Ataxia Syndrome
Obsessive-compulsive trait, Impaired tandem gait, Impaired distal vibration sensation, Disinhibit... OMIM:300623
Cone Dystrophy 3
Reduced visual acuity, Photophobia, Progressive visual loss OMIM:602093
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Episodic Ataxia Type 6
Phonophobia, Diplopia, Ataxia, Reduced visual acuity, Photophobia ORPHA:209967
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Chilblain Lupus 1
Skin ulcer OMIM:610448
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Visual impairment, Myopia, Reduced visual acuity, Nyctalopia, Photophobia OMIM:304020
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Pr... OMIM:610042
Obsolete: Early-Onset Schizophrenia
Emotional lability, Polyphagia, Impairment in personality functioning, Suicidal ideation, Shyness... ORPHA:96369
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Chorea, Self-injurious behavior, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Anxiety, Self-injurious behavior, Abnormal repetitive mannerisms, Aggressive behavior, Compulsive... OMIM:613670
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Low-set ears, Torticollis, Impaired social interactions, Inability to walk, P... ORPHA:300570
Progressive Cone Dystrophy
Color vision defect, Photophobia, Visual impairment ORPHA:1871
Progressive Supranuclear Palsy
Unsteady gait, Falls, Blepharospasm, Cognitive impairment, Dementia, Memory impairment, Tremor, B... ORPHA:683
Young-Onset Parkinson Disease
Impaired social interactions, Apathy, Cognitive impairment, Anxiety, Dementia, Frontal lobe demen... ORPHA:2828
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Tremor, Growth delay, Aggressive behavior, Choreoathetosis, Dystonia OMIM:612716
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Ataxia, Dementia, Memory impairment, Dysdiadochokinesis, Dyspha... ORPHA:247234
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Apathy, Disinhibition, Frontotemporal dementia, Dysphagia, Abnormal repetitiv... OMIM:612069
Bradyopsia
Visual impairment, Photophobia ORPHA:75374
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Ataxia, Anxiety, Chorea, Depression, Tremor, Dysphagia, Action trem... OMIM:619738
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Progressive visual loss OMIM:180020
Blue Cone Monochromatism
Photophobia, Visual impairment, Blue cone monochromacy ORPHA:16
Atypical Juvenile Parkinsonism
Dystonia, Inability to walk, Short stepped shuffling gait, Gait ataxia, Bradykinesia, Resting tre... ORPHA:391411
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Seizure, Periventricular nodular heterotopia OMIM:620065
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Gait disturbance, EEG abnormality, Dementia, Memory impairment OMIM:618193
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Short stature, Self-injurious b... ORPHA:228402
Cone Rod Dystrophy
Color vision defect, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Albinism, Oculocutaneous, Type Vi
Reduced visual acuity, Photophobia, Visual impairment OMIM:113750
Leber Congenital Amaurosis 16
Visual field defect, Visual impairment, Reduced visual acuity, Nyctalopia, Photophobia OMIM:614186
Xq28 (MECP2) duplication
Death in childhood, Inability to walk, Anxiety, Dysphagia, Gait ataxia, Abnormal repetitive manne... DECIPHER:45
Cone-Rod Dystrophy And Hearing Loss 2
Reduced visual acuity, Photophobia OMIM:618358
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Neuroferritinopathy
Subcortical dementia, Emotional lability, Abnormal thalamic MRI signal intensity, T2 hypointense ... ORPHA:157846
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Reduced visual acuity, Photophobia, Nyctalopia, Central scotoma OMIM:616079
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Mild myopia, Nyctalopia, Hypermetropia OMIM:617024
Spinocerebellar Ataxia Type 29
Ataxia, Cognitive impairment, Dysdiadochokinesis, Gait ataxia, Intention tremor, Delayed social d... ORPHA:208513
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Shyness, Short stature, Waddling gait, Abnormal repetitive mannerisms, Dystonia ORPHA:280763
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Cognitive impairment, Obesity OMIM:619058
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Juvenile Neuronal Ceroid Lipofuscinosis
Emotional lability, Cognitive impairment, Motor deterioration, Anxiety, Progressive language dete... ORPHA:79264
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Hyperactivity, Chorea, Dysphagia, Gait ataxia, Aggres... ORPHA:500180
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Leber Congenital Amaurosis 9
Color vision defect, Ultra-low vision with retained light perception, Eye poking, Hypermetropia, ... OMIM:608553
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, Photophobia, High hypermetropia OMIM:617879
Mucolipidosis Iv
Photophobia, Progressive neurologic deterioration, Visual impairment OMIM:252650
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Emotional lability, Inability to walk, Ataxia, Anxiety, Attention deficit hyperactivity disorder,... OMIM:619580
Autosomal Dominant Cerebellar Ataxia
Torticollis, Gait disturbance, Progressive cerebellar ataxia, Somatic sensory dysfunction, Hand t... ORPHA:99
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Cach Syndrome
T2 hypointense thalamus, Limb ataxia, Apathy, Abnormal pons morphology, Cognitive impairment, Pro... ORPHA:135
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Gait disturbance, Hyperactivity, Ataxia, Blepharospasm, Dementia, Mot... OMIM:234200
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Cognitive impairment, Dystonia, Obesity ORPHA:459033
Macular Dystrophy, Patterned, 1
Reduced visual acuity, Photophobia, Nyctalopia, Metamorphopsia OMIM:169150
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Postural tremor, Anxiety, Bradykinesia, Resting tremor OMIM:606324
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait ORPHA:411515
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Aceruloplasminemia
Limb ataxia, Torticollis, Apathy, Ataxia, Blepharospasm, Cognitive impairment, Memory impairment,... ORPHA:48818
Episodic Ataxia, Type 6
Phonophobia, Diplopia, Episodic ataxia, Photophobia, Truncal ataxia OMIM:612656
Bardet-Biedl Syndrome 5
Cognitive impairment, Obesity OMIM:615983
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia... OMIM:613660
Retinal Cone Dystrophy 3B
Reduced visual acuity, Photophobia, Scotoma, Nyctalopia, Myopia OMIM:610356
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity OMIM:610381
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Impaired social interactions ORPHA:397933
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Dysplastic corpus callosum, Short 5th finger, ... ORPHA:557003
Cone-Rod Dystrophy 21
Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Agitation, Bruxism, Tremor, Bradykinesia, Dysphagia, Abnormal repetitive mannerism... OMIM:617435
Achromatopsia 3
High myopia, Achromatopsia, Moderately reduced visual acuity, Severely reduced visual acuity, Pho... OMIM:262300
Cone-Rod Dystrophy 22
Reduced visual acuity, Photophobia OMIM:619531
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Choreoacanthocytosis
Emotional lability, Progressive choreoathetosis, Tics, Disinhibition, Anxiety, Dementia, Self-mut... OMIM:200150
Supranuclear Palsy, Progressive, 2
Apathy, Falls, Retrocollis, Axial dystonia, Postural tremor, Irritability, Memory impairment, Dys... OMIM:609454
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Ataxia, Broad-based gait, Waddling gait, Dystonia, Obesity OMIM:616756
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Oromandibular dystonia, Difficulty walking, Abnormality of thalamus morphology ORPHA:397725
Infantile Krabbe Disease
Blindness, Hyperesthesia, Progressive neurologic deterioration, Visual loss, Cachexia, Irritabili... ORPHA:206436
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Emotional lability, Ataxia, Agitation, Cognitive impairment, Anxiety, Abnormal repetitive manneri... ORPHA:927
Oligocone Trichromacy
Photophobia ORPHA:75378
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Tip-toe gait, Impaired vibration sensation in the lo... OMIM:604360
Retinal Cone Dystrophy 4
Reduced visual acuity, Photophobia, Constriction of peripheral visual field, Visual impairment OMIM:610478
Clcn4-Related X-Linked Intellectual Disability Syndrome
Unsteady gait, Progressive cerebellar ataxia, Hyperactivity, Anxiety, Bipolar affective disorder,... ORPHA:485350
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Hartnup Disease
Emotional lability, Ataxia, Abnormality of vision, Anxiety, Photophobia ORPHA:2116
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, EEG with generalized epileptiform discharges, EEG with fr... ORPHA:363558
Leber Congenital Amaurosis 14
Reduced visual acuity, Photophobia, Nyctalopia, Congenital blindness OMIM:613341
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Bradykinesia, Resting tremor, Freezing of gait, Akinesia, Dystonia OMIM:619911
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Posteriorly rotated ears, Anxiety, Abnormal social behavior, Brachydactyly, Small h... ORPHA:444002
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Mem... OMIM:619827
Leber Congenital Amaurosis 6
Severely reduced visual acuity, Photophobia, High hypermetropia OMIM:613826
Supranuclear Palsy, Progressive, 1
Limb dystonia, Apathy, Falls, Retrocollis, Axial dystonia, Irritability, Memory impairment, Tremo... OMIM:601104
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Central scotoma, Visual impairment, Myopia, Reduced visual acuity, Photophobia OMIM:300476
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Photophobia ORPHA:438134
Rasmussen Subacute Encephalitis
Emotional lability, Inability to walk, Hyperactivity, Cognitive impairment, Attention deficit hyp... ORPHA:1929
Childhood Absence Epilepsy
Limb myoclonus, Myoclonic absence seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:64280
Bilateral Generalized Polymicrogyria
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Generalized-onset se... ORPHA:208447
Cone-Rod Dystrophy 16
Reduced visual acuity, Photophobia, Nyctalopia, Progressive visual loss OMIM:614500
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Short stature, Self-injurious behavior, Aggressive behavior, Ch... OMIM:620023
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Ectrodactyly, Hyposmia, Sensorineural hearing impairment, Clinodactyly, Anosmia,... OMIM:147950
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, ... OMIM:300029
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Myoclonic seizure OMIM:619690
Microphthalmia, Isolated 5
Reduced visual acuity, Nyctalopia, Photophobia, High hypermetropia OMIM:611040
Buerger Disease
Skin ulcer ORPHA:36258
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Tremor OMIM:614203
Chromosome 15Q11.2 Deletion Syndrome
Impaired social interactions, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Short st... OMIM:615656
Stiff Person Spectrum Disorder
Emotional lability, Agoraphobia, Falls, Difficulty walking, Anxiety, Exaggerated startle response ORPHA:3198
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Gait disturbance, Anxiety, Short stature, Tremor, Abnormal repetitive mannerisms... ORPHA:457240
Retinitis Pigmentosa 32
Reduced visual acuity, Photophobia, Nyctalopia OMIM:609913
Retinitis Pigmentosa 79
Reduced visual acuity, Nyctalopia, Photophobia, Constriction of peripheral visual field OMIM:617460
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Bilateral sensorineural hearing impairment, Cognitive imp... ORPHA:70595
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Anxiety, Bilateral tonic-clonic seizure, Self-injurious behavior, Gene... OMIM:615637
Postorgasmic Illness Syndrome
Photophobia, Blurred vision, Irritability ORPHA:279947
Retinitis Pigmentosa
Blindness, Visual impairment, Progressive night blindness, Photophobia, Obesity ORPHA:791
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Somatic sensory dysfunction, Ataxia, EEG with focal spike... ORPHA:83597
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Impaired pain sensation, Gait disturbance, Decreased motor nerve conduction velocity, Abnormal sp... ORPHA:139578
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Japanese Encephalitis
Interictal epileptiform activity, Hyperintensity of MRI T2 signal of the spinal cord, Dystonia, A... ORPHA:79139
Oculocutaneous Albinism, Type Viii
Reduced visual acuity, Photophobia OMIM:619165
Oculopharyngodistal Myopathy 3
Photophobia, Ataxia OMIM:619473
Spinocerebellar Ataxia Type 7
Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Dysdiadochokinesis, Failure to thriv... ORPHA:94147
Corneal Dystrophy, Meesmann, 1
Reduced visual acuity, Photophobia OMIM:122100
Superficial Siderosis
Impaired pain sensation, Paresthesia, Limb ataxia, Unsteady gait, Ataxia, Bilateral sensorineural... ORPHA:247245
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypsarrhythmia, Focal impaired awareness seizure, Atonic seizure, Multifocal ep... ORPHA:411986
Retinal Cone Dystrophy 3A
High myopia, Reduced visual acuity, Nyctalopia, Photophobia, Dyschromatopsia OMIM:610024
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Tremor, Dysphagia, Gait ... ORPHA:98794
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Progressive neurologic deterioration, Increased body weight ORPHA:276608
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Unsteady gait, Hypoplasia of the pons, Fusion of the left... OMIM:617542
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Retinitis Pigmentosa 51
Visual impairment, Reduced visual acuity, Nyctalopia, Photophobia, High myopia, Obesity OMIM:613464
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Focal impaired... OMIM:619428
Irvan Syndrome
Photophobia, Reduced visual acuity, Vitreous floaters, Blurred vision ORPHA:209943
Tonne-Kalscheuer Syndrome
Shyness, Anxiety, Short stature, Self-injurious behavior, Tremor, Dysphagia, Growth delay, Aggres... OMIM:300978
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aggressive behavior, Br... OMIM:301029
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction ORPHA:329249
Lyme Disease
Paresthesia, Photophobia, Amaurosis fugax, Memory impairment ORPHA:91546
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Myoclonic seizure, Simplified gyral pattern, Bilateral tonic-clonic seizure, Epil... OMIM:619877
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Infantile Neuroaxonal Dystrophy
Emotional lability, Gait disturbance, Unsteady gait, Ataxia, Hyperactivity, Choking episodes, Men... ORPHA:35069
Mohr-Tranebjaerg Syndrome
Color vision defect, Central scotoma, Visual impairment, Dementia, Visual loss, Mental deteriorat... ORPHA:52368
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Dysdiadochokinesis, Chorea, Gait ataxia, Bradykinesia, Mental ... OMIM:610217
Boucher-Neuhauser Syndrome
Gait ataxia, Photophobia, Progressive visual loss, Ataxia OMIM:215470
Birdshot Chorioretinopathy
Vitreous floaters, Blurred vision, Blind-spot enlargment, Arcuate scotoma, Visual loss, Photophobia ORPHA:179
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Ir... OMIM:608643
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal social behavior, Abnormal repetitive mannerisms, Mild postnatal g... ORPHA:530983
Parkinson Disease 23, Autosomal Recessive Early-Onset
Limb dystonia, Dementia, Mental deterioration, Resting tremor, Akinesia OMIM:616840
Phenylketonuria
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 38
Self-mutilation, Hyperactivity, Unsteady gait, Recurrent hand flapping, Aggressive behavior OMIM:615516
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Oculocutaneous Albinism Type 6
Reduced visual acuity, Photophobia ORPHA:370097
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Hyperactivity, Aggressive behavior, Short stature OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Ataxia, Conspicuously happy disposition, Anxiety, Attention deficit hyperactivi... OMIM:300986
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
Macrocephaly-Developmental Delay Syndrome
Anxiety, Self-injurious behavior, Seizure, EEG with generalized slow activity, Abnormal repetitiv... ORPHA:397612
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Broad-based gait, Gait ataxia, Happy demeanor, Abnormal repetitive mannerisms... OMIM:617807
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Bruxism, Attention deficit hyperactivity disorder, Short stature, Tremor, Abnormal... OMIM:618342
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Hyperactivity, Inappropriate laughter, Gait ataxia, Happy dem... OMIM:103050
X-Linked Adrenoleukodystrophy
Gait disturbance, Somatic sensory dysfunction, Hyperactivity, Disinhibition, Cognitive impairment... ORPHA:43
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Difficulty walking, Dementia, Progressive gait ataxia, Abnormal social behavi... ORPHA:309271
Myoclonic-Astatic Epilepsy
Impaired social interactions, Hyperactivity, Abnormal emotion/affect behavior, Unsteady gait, Ata... ORPHA:1942
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Generalized non-motor (absence) seizure OMIM:613886
Flynn-Aird Syndrome
Impaired pain sensation, Ataxia, EEG abnormality, Dementia, Progressive sensorineural hearing imp... ORPHA:2047
Gaucher Disease, Perinatal Lethal
Apathy, Progressive neurologic deterioration, Intrauterine growth retardation, Neonatal death, Dy... OMIM:608013
Beta-Thalassemia
Skin ulcer, Pallor, Irritability ORPHA:848
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Spastic Paraplegia 47, Autosomal Recessive
Dystonia, Inability to walk, Waddling gait, Shyness OMIM:614066
Migraine With Or Without Aura, Susceptibility To, 6
Phonophobia, Photophobia OMIM:607516
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Developmental And Epileptic Encephalopathy 64
Dystonia, Inability to walk, Bruxism, Chorea, Self-injurious behavior, Abnormal repetitive manner... OMIM:618004
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Ataxia, Dementia, Abnormal social behavior, Memory impairment ORPHA:1020
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hydrolethalus
Low-set ears, Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Abnormality of the s... ORPHA:2189
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Migraine With Or Without Aura, Susceptibility To, 12
Phonophobia, Photophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Phonophobia, Photophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Phonophobia, Photophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Phonophobia, Photophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Phonophobia, Photophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Phonophobia, Photophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Phonophobia, Photophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Phonophobia, Photophobia OMIM:607508
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance, Happy demean... ORPHA:411511
Neovascular Glaucoma
Photophobia, Visual loss, Visual acuity test abnormality ORPHA:94058
Hereditary Sensory And Autonomic Neuropathy Type 1
Impaired temperature sensation, Distal sensory impairment, Inability to walk, Steppage gait, Decr... ORPHA:36386
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Bulimia, Hyperactivity, Ataxia, Bruxism, Anxiety, Self-biting, Ster... OMIM:300912
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hearing impairment OMIM:615266
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hyperactivity, Ataxia, Cognitive impairment, Tremor, Gait ataxia, Progressive psyc... ORPHA:363400
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Choreoacanthocytosis
Bruxism, Loss of ambulation, Mental deterioration, Laryngeal dystonia, Bradyphrenia, Head-banging... ORPHA:2388
Ataxia-Oculomotor Apraxia 4
Ataxia, Cognitive impairment, Impaired vibratory sensation, Dystonia, Obesity OMIM:616267
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Polydactyly, Mesoaxial polydactyly, Cognitive impairment, Mesoaxial h... OMIM:615994
Meningococcal Meningitis
Paresthesia, Photophobia, Irritability ORPHA:33475
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Hearing impairment OMIM:615271
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume, Dystonia OMIM:618646
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Distal sensory impairment, Unsteady gait, Ataxia, Loss of ambulation, Ob... OMIM:618124
Septo-Optic Dysplasia Spectrum
Dry skin, Sensorineural hearing impairment, Aplasia/Hypoplasia of the cerebellum, Anosmia, Agenes... ORPHA:3157
Developmental And Epileptic Encephalopathy 66
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal c... OMIM:618067
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Hyposmia, Hearing impairment OMIM:615996
Chiari Malformation Type I
Paresthesia, Diplopia, Hyperacusis, Gait ataxia, Photophobia OMIM:118420
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Intention tremor, Progress... ORPHA:309263
Tay-Sachs Disease
Limited elbow extension, Abnormal thalamic MRI signal intensity, Inability to walk, Gait disturba... ORPHA:845
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Gait disturbance, Dystonia, Attention deficit hyperactivity disorde... OMIM:300352
Sjögren-Larsson Syndrome
Myopia, Photophobia ORPHA:816
Dracunculiasis
Skin ulcer ORPHA:231
48,Xxyy Syndrome
Ataxia, Anxiety, Attention deficit hyperactivity disorder, Tremor, Abnormal repetitive mannerisms... ORPHA:10
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... ORPHA:449291
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Short stature, Irritability, Chorea, Exaggerated startle response OMIM:617864
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Cognitive impairment, Bipolar affective disorder, Short stature, Self-inju... OMIM:601853
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Hyperactivity, Ataxia, Progressive language deterioration, Mental deterioration,... ORPHA:163681
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Ataxia, Hyperactivity, Tics, Happy demeanor, Tongue thrusting, Stereotypical body ... OMIM:617865
Meningioma
Emotional lability, Transient global amnesia, Tinnitus, Focal T2 hypointense thalamic lesion, Inc... ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 56
Impaired social interactions, Inability to walk, Pontocerebellar atrophy, Protruding ear, Ataxia,... OMIM:617854
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior, Compulsive beha... OMIM:619467
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Abnormal repetitive mannerisms, Impaired tactile sensation OMIM:619092
Rett Syndrome, Congenital Variant
Impaired social interactions, Bruxism, Irritability, Chorea, Athetosis, Tongue thrusting, Abnorma... OMIM:613454
Classic Mycosis Fungoides
Dry skin, Erythema, Skin ulcer ORPHA:2584
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Focal impaired awareness seizure, Anxiety, Bilateral tonic-clonic seizure, Gen... OMIM:617600
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Emotional lability, Delayed puberty, Hyperactivity, Short stature, Tremor, Gait ataxia, Aggressiv... OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Ataxia, Bruxism, Anxiety, Hostility, Pain insensitivity, Chorea, Dysphagia, Re... OMIM:300260
Timothy Syndrome
Hypocalcemia OMIM:601005
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Indifference To Pain, Congenital, Autosomal Recessive
Paresthesia, Impaired proprioception, Hyposmia, Pain insensitivity, Abnormal nerve conduction vel... OMIM:243000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal sensory impairment, Tinnitus, Steppage gait, Decreased motor nerve conduction velocity, Mi... OMIM:601152
Free Sialic Acid Storage Disease
Gait disturbance, Ataxia, Athetosis, Seizure, Skin ulcer ORPHA:834
Albinism, Oculocutaneous, Type Vii
Reduced visual acuity, Photophobia, High hypermetropia OMIM:615179
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Ataxia, Dysesthesia, Anxiety, Dementia, Inertia, Memory impairment, Dysphagia, ... ORPHA:93256
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Attention deficit hyperactivity disorder, Scissor gait, Growth delay, Spastic gait, Abnormal repe... OMIM:619121
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Hypsarrhythmia, Ataxia, Progressive neurologic deteriorat... ORPHA:506
Paternal Uniparental Disomy Of Chromosome 1
Progressive visual loss, Pain insensitivity, Progressive psychomotor deterioration, Photophobia, ... ORPHA:251004
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, Low-set ears, Abnormal nasal morphology, Postaxial polydactyly, Anxie... ORPHA:404440
Congenital Tufting Enteropathy
Weight loss, Photophobia, Irritability, Failure to thrive ORPHA:92050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer ORPHA:743
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Anxiety, Abnormal repetitive mannerisms, Aggressive behavior, Compulsive b... OMIM:618430
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia, Apathy OMIM:272800
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Angelman Syndrome
Polyphagia, Inability to walk, Hyperactivity, Ataxia, Inappropriate laughter, Anxiety, Self-injur... ORPHA:72
Sjogren-Larsson Syndrome
Reduced visual acuity, Photophobia, Color vision defect OMIM:270200
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability, Ataxia OMIM:616881
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Pain insensitivity, Self-injurious behavior, Skin-picking, Stereoty... OMIM:600430
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Niemann-Pick Disease Type C
Bipolar affective disorder, Progressive neurologic deterioration, Mental deterioration, Dystonia,... ORPHA:646
Cri-Du-Chat Syndrome
Self-mutilation, Hyperactivity, Difficulty walking, Conspicuously happy disposition, Overfriendli... OMIM:123450
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Ataxia, Proximal placement of thumb, Overlapping toe, Postaxial polydactyl... ORPHA:435638
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:617044
Acrogeria
Skin ulcer, Excessive wrinkled skin ORPHA:2500
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Crouch gait, Hyperactivity, Intrauterine growth retardation OMIM:620145
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Ataxia, Abnormal thyroid-stimulating hormone level, Cerebellar hy... OMIM:616113
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Ritscher-Schinzel Syndrome 4
Ataxia, Short stature, Chorea, Athetosis, Dysphagia, Abnormal repetitive mannerisms, Aggressive b... OMIM:619435
Congenital Muscular Dystrophy With Cerebellar Involvement
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cerebellar cyst, Decreased thalamic volu... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Pain insensitivity, Abnorma... OMIM:618825
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Ataxia, Bruxism, Tremor, Bradykinesia, Resting tremor, Spastic gait, Choreoathetosis, S... OMIM:300055
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Chorea, Exaggerated startle response, Dystonia OMIM:272750
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Bipolar affective disorder, Attention deficit hyperactivity disorder, Motor tics, ... OMIM:619927
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Cerebellar atrophy, Ataxia ORPHA:363717
Arthrogryposis Multiplex Congenita 6
Death in childhood, Akinesia, Death in infancy, Neonatal death OMIM:619334
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Ataxia, Abnormality of thalamus morphology ORPHA:467166
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia,... ORPHA:309256
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Short stature, Chorea, Athetosis, Dystonia ORPHA:52503
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Broad-based gait ORPHA:457260
Holoprosencephaly
Choanal atresia, Hyposmia, Aplasia/Hypoplasia of the cerebellum, Anosmia, Dystonia, Brachydactyly... ORPHA:2162
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Short stature, Abnormal repetitive manne... OMIM:620141
Rett Syndrome
Bruxism, Motor deterioration, Cachexia, Gait apraxia, Gait ataxia, Stereotypical hand wringing, T... OMIM:312750
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Dysphoria, Aggressive behavior, Abnormal... OMIM:620242
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440