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Gene: Shank3 MGI:1930016

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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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Echo

M-Mode Images

76 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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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
Aggressive behavior, Impaired social interactions, Delayed speech and language development, Impai... OMIM:606232
Monosomy 22Q13.3
Macrotia, Cerebellar cortical atrophy, Hair-pulling, Wide nasal bridge, Delayed speech and langua... ORPHA:48652

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivi... ORPHA:468726
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Intellectual Developmental Disorder, Autosomal Recessive 25
Delayed speech and language development, Anxiety OMIM:614346
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Obsessive-Compulsive Disorder
Skin-picking, Collectionism, Depression, Anxiety OMIM:164230
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Panic Disorder 1
Anxiety OMIM:167870
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Posterior Cortical Atrophy
Cerebral visual impairment, Inertia, Ataxia, Color vision defect, Anxiety, Language impairment, P... ORPHA:54247
Intellectual Developmental Disorder, X-Linked 63
Delayed speech and language development, Anxiety OMIM:300387
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Adamantinoma
Hypercalcemia ORPHA:55881
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depression, Anxiety OMIM:619191
Persistent Idiopathic Facial Pain
Somatic sensory dysfunction, Paresthesia, Impaired pain sensation, Depression, Anxiety ORPHA:398147
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Reduced visual acuity, Delayed speech and language development, Ataxia, Anxiety, Photophobia OMIM:618970
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Delayed speech and language development, Hyperactivity DECIPHER:20
Behavioral Variant Of Frontotemporal Dementia
Restlessness, Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blu... ORPHA:275864
Huntington Disease-Like 2
Chorea, Inertia, Weight loss, Apathy, Action tremor, Depression, Anxiety, Irritability, Dystonia,... OMIM:606438
Spinocerebellar Ataxia Type 27
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Hand tremor, Gait disturbance, Limb a... ORPHA:98764
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Dystonia 11, Myoclonic
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Morm Syndrome
Aggressive behavior, Delayed speech and language development, Progressive night blindness, Trunca... ORPHA:75858
Huntington Disease-Like 1
Chorea, Aggressive behavior, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness OMIM:603218
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Manganese Poisoning
Aggressive behavior, Postural tremor, Akinesia, Hypersexuality, Gait disturbance, Emotional labil... ORPHA:306682
Schizophrenia 15
Hyperactivity OMIM:613950
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk, Absent speech OMIM:616657
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Cognitive impairment, Inertia, Limb dystonia, Gait disturbance, Emotional lability, Compu... ORPHA:216873
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Foxg1 Syndrome
Paroxysmal bursts of laughter, Cognitive impairment, Inability to walk, Stereotypical hand wringi... ORPHA:561854
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Anxiety, Akinesia, Delayed speech and language development, Dementia, Absent... OMIM:300894
Huntington Disease
Chorea, Hostility, Aggressive behavior, Gait imbalance, Inability to walk, Suicidal ideation, Anx... ORPHA:399
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Dementia, Anxiety ORPHA:494541
Dystonia 12
Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... ORPHA:412066
Geniospasm 1
Anxiety OMIM:190100
Spinocerebellar Ataxia 21
Gait ataxia, Aggressive behavior, Cognitive impairment, Postural tremor, Akinesia, Apathy, Limb a... OMIM:607454
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Hypsarrhythmia, Bil... OMIM:616056
Pandas
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impuls... ORPHA:66624
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Tremor, Dystonia, Depression, Anxie... ORPHA:401901
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hartnup Disorder
Hyperactivity, Short stature, Delayed speech and language development, Episodic ataxia, Emotional... OMIM:234500
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Intellectual Developmental Disorder, Autosomal Recessive 37
Delayed speech and language development, Hyperactivity, Aggressive behavior, Bruxism OMIM:615493
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior, Bruxism ORPHA:356996
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Aggressive behavior, Falls, Delayed speech and language development, Ataxia, Inappropriat... OMIM:619150
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Neuromuscular dysphagia, Palilalia, Blepharospasm, Gait imbalance, Falls, Akinesia, Short stepped... ORPHA:240094
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Akinesia, Apathy, Short stepp... OMIM:168605
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Myoclonus-Dystonia Syndrome
Limb myoclonus, Anxiety, Myoclonus, Spinal myoclonus, Compulsive behaviors, Depression, Panic att... ORPHA:36899
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Limb dystonia, Torticollis, Emotional lability, Craniofacial dystoni... ORPHA:71517
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Dementia, Ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Usher Syndrome, Type Iiib
Truncal ataxia, Photophobia, Ataxia, Visual impairment OMIM:614504
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Recur... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response, Attention deficit hyperact... OMIM:617028
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, EEG abnormality, Stereotypical hand wringing, Focal-onset seizure, Convu... OMIM:618760
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Central scotoma, Photophobia, Ataxia, Color vision defect, Blind-spot enlargment, Reduced visual ... OMIM:616732
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depression, Anxiety, P... OMIM:604326
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flapping, Focal he... OMIM:618141
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Recur... OMIM:309548
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Short stature, Recurrent hand flapping, Hand tremor, Absent speech, Dysphagia, Broad... OMIM:617862
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Delayed speech and language development, Ataxia, Absent speec... OMIM:300983
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Delayed speech and language development, Ataxia, Tremor, Mental deterioration, Dys... OMIM:615924
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Focal motor seizure, Seizure, EEG abnormality, EEG with polyspike wave complex... OMIM:617665
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Anxiety, Apathy, Tremor, Dystonia, Depression, Mental deteriorati... ORPHA:240085
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Cachexia, Ataxia, Dysmetria, Tremor, Depression, Anxiety, Irritability, Dyst... OMIM:618093
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Delayed speech and language development, Tremor, Broad-based ... OMIM:619470
Corticobasal Syndrome
Somatic sensory dysfunction, Memory impairment, Akinesia, Limb dystonia, Gait disturbance, Dement... ORPHA:454887
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Depression, Anxiety, Dystonia, Bradykinesia OMIM:605909
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Gait ataxia, Cognitive impairment, EEG with generalized epileptiform discharges, Inability to wal... ORPHA:1947
Atypical Rett Syndrome
Gait ataxia, Inability to walk, Stereotypical hand wringing, Impaired social interactions, Inappr... ORPHA:3095
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Kufor-Rakeb Syndrome
Aggressive behavior, Akinesia, Torticollis, Distal sensory impairment, Gait disturbance, Dementia... OMIM:606693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Progressive Supranuclear Palsy
Blepharospasm, Cognitive impairment, Falls, Delayed speech and language development, Dementia, Ab... ORPHA:683
Cln5 Disease
Hyperactivity, Aggressive behavior, Anxiety, Inability to walk, Truncal ataxia, Dysdiadochokinesi... ORPHA:228360
Hyperprolinemia, Type I
Delayed speech and language development, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Inability to walk, Delayed... OMIM:618718
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Diplopia, Blurred vision, Photophobia, Visual loss, Scintillati... ORPHA:238624
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb dystonia, Limb ataxia, Thalamic calcification, Mental deterioration, Generalized dystonia, B... OMIM:618824
Leber Congenital Amaurosis 2
Blindness, Photophobia, Eye poking, Reduced visual acuity, Nyctalopia OMIM:204100
Christianson Syndrome
Gait ataxia, Truncal ataxia, Abnormal repetitive mannerisms, Absent speech, Inappropriate laughte... ORPHA:85278
Spinocerebellar Ataxia, Autosomal Recessive 31
Delayed speech and language development, Choreoathetosis, Ataxia, Absent speech, Tremor, Growth d... OMIM:619422
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Delayed speech and language development, Gait dist... OMIM:618090
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Ataxia, Hypoesthesia, Dysmetria, Thalamic calcification, Dystonia, Mental deterioration, ... OMIM:618317
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Blue Cone Monochromacy
Reduced visual acuity, Blue cone monochromacy, Visual impairment, Myopia, Photophobia OMIM:303700
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Increased theta frequency activity in EEG, EEG with focal spikes, Focal hyperk... ORPHA:98784
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Seizure, EEG abnormality, Self-injurious behavior, Stereotypical hand wringing... OMIM:614254
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Anxiety OMIM:618878
Tritanopia
Color vision test abnormality, Tritanomaly, Reduced visual acuity, Photophobia ORPHA:88629
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Apathy, Dementia, Agitation, Impulsivity, Depression, M... ORPHA:411602
Corneal Dystrophy, Gelatinous Drop-Like
Blurred vision, Reduced visual acuity, Photophobia, Visual impairment OMIM:204870
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Blepharospasm, Social and occupational deterioration, Falls, Akinesia, G... ORPHA:240071
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Reduced visual acuity, Constriction of peripheral visual field, Visua... OMIM:304700
Gm2 Gangliosidosis, Ab Variant
Chorea, Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle respo... ORPHA:309246
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... ORPHA:3077
Leber Congenital Amaurosis 1
Blindness, Reduced visual acuity, Eye poking, Photophobia, Nyctalopia OMIM:204000
Achromatopsia 4
Photophobia, Visual impairment, Achromatopsia OMIM:613856
Spinocerebellar Ataxia Type 21
Gait ataxia, Cognitive impairment, Akinesia, Tremor, Progressive cerebellar ataxia ORPHA:98773
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Macular Dystrophy, Vitelliform, 3
Reduced visual acuity, Color vision defect, Metamorphopsia, Visual impairment, Photophobia OMIM:608161
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Aggres... ORPHA:101039
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with series of focal spikes, Focal-onset seizure, Atonic seizure, EEG with... ORPHA:168491
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Phonophobia OMIM:609634
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Photophobia, Dyschromatopsia OMIM:618977
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Multifocal epileptif... ORPHA:505652
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Congenital stationary night blindness, Visual impairment OMIM:610427
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Hyperactivity, Aggressive behavior, Inability to walk, Absent speech, Impair... ORPHA:500180
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Cone-Rod Dystrophy 13
Color vision defect, Reduced visual acuity, Photophobia, Visual impairment OMIM:608194
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Echolalia, Abnormal repetitive mannerisms, Emotional lability, Ataxia, Agit... ORPHA:927
Optic Atrophy 6
Photophobia, Red-green dyschromatopsia, Visual impairment OMIM:258500
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Short stature, Delayed spe... ORPHA:228402
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Mental deterioration, Personality disorder ORPHA:2382
Achromatopsia
Monochromacy, Reduced visual acuity, Central scotoma, Hypermetropia, Color vision defect, Myopia,... ORPHA:49382
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Mucolipidosis Iv
Photophobia, Progressive neurologic deterioration, Absent speech, Visual impairment OMIM:252650
Achromatopsia 7
Photophobia, Reduced visual acuity, Central scotoma, Achromatopsia OMIM:616517
Cone-Rod Dystrophy 5
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma OMIM:600977
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Postencephalitic Parkinsonism
Tremor by anatomical site, Paresthesia, Abnormal aggressive, impulsive or violent behavior, Resti... ORPHA:97349
Cone-Rod Dystrophy 17
Photophobia, Central scotoma, Visual impairment OMIM:615163
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Death in infancy, Irritability, Impulsivity, Lethargy, Restle... OMIM:605899
Fragile X Tremor/Ataxia Syndrome
Gait ataxia, Impaired distal vibration sensation, Bradykinesia, Anxiety, Postural tremor, Resting... OMIM:300623
Neurodegeneration With Brain Iron Accumulation 1
Palilalia, Hyperactivity, Blepharospasm, Bradykinesia, Dysphagia, Akinesia, Choreoathetosis, Gait... OMIM:234200
Cone Dystrophy 3
Progressive visual loss, Reduced visual acuity, Photophobia OMIM:602093
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Postural tremor, Delayed speech and language development, Freezing of g... OMIM:619911
Chilblain Lupus 1
Skin ulcer OMIM:610448
Episodic Ataxia Type 6
Diplopia, Reduced visual acuity, Phonophobia, Ataxia, Photophobia ORPHA:209967
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Color vision defect, Visual impairment, Myopia, Reduced visual acuity, Nyctalopia OMIM:304020
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Impulsivity, Recurrent hand flapping, Irritability OMIM:619717
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis, Dystonia ORPHA:382
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Spastic ataxia, Inability to walk, Impaired social interactio... ORPHA:300570
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Delayed speech and language development, Gait disturbance, Abnormal repetitive man... ORPHA:457240
Progressive Cone Dystrophy
Color vision defect, Photophobia, Visual impairment ORPHA:1871
Severe Intellectual Disability And Progressive Spastic Paraplegia
Short stature, Shyness, Abnormal repetitive mannerisms, Difficulty walking, Dystonia, Waddling gait ORPHA:280763
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Growth delay, Dystonia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Delayed speech and language development, Absent speech, Impulsivity, Attention def... OMIM:301008
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Shuffling gait, Resting tremor, Akinesia, Dysdiadochokinesis, Dementia, Ataxia, Abno... ORPHA:247234
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Gait apraxia, Rest... OMIM:615157
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Retinal Cone Dystrophy 1
Progressive visual loss, Color vision defect, Photophobia OMIM:180020
Blue Cone Monochromatism
Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Atypical Juvenile Parkinsonism
Gait ataxia, Shuffling gait, Akinesia, Resting tremor, Inability to walk, Short stepped shuffling... ORPHA:391411
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
EEG abnormality, Gait disturbance, T2 hypointense thalamus, Dementia, Memory impairment OMIM:618193
Young-Onset Parkinson Disease
Cognitive impairment, Gait imbalance, Hyposmia, Frontal lobe dementia, Impaired social interactio... ORPHA:2828
Developmental And Epileptic Encephalopathy 104
Delayed speech and language development, Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment OMIM:204110
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Short stature, Ch... OMIM:620023
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, Photophobia, Visual impairment, Reduced visual acuity, Nyctalopia OMIM:614186
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Motor deterioration, Emotional lability, Dementia, Abnormal repetitive mann... ORPHA:79264
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Aggressive behavior, Impaired social interactions, Ataxia, Tremor, Action tremor, Depress... OMIM:619738
Hyperlysinemia, Type I
Delayed speech and language development, Hyperactivity, Cognitive impairment OMIM:238700
Neuroferritinopathy
Chorea, Abnormal dentate nucleus morphology, Blepharospasm, Cognitive impairment, Resting tremor,... ORPHA:157846
Cone-Rod Dystrophy And Hearing Loss 2
Reduced visual acuity, Photophobia OMIM:618358
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Hyposmia, Abnormal motor neuron morphology, Torticollis, Head... OMIM:613724
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Short stature DECIPHER:8
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Mild myopia, Nyctalopia OMIM:617024
Postorgasmic Illness Syndrome
Delayed speech and language development, Blurred vision, Photophobia, Irritability ORPHA:279947
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Self-injurious behavior, Inability to walk, Stereotypical hand wringing, Del... OMIM:618917
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Delayed speech and language development, Hypoplasia of the pons, Fusion of the left and right tha... OMIM:617542
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Echolalia, Delayed speech and language development, Recurrent... OMIM:615516
Early-Onset Schizophrenia
Restlessness, Suicidal ideation, Lack of peer relationships, Low self esteem, Shyness, Compulsive... ORPHA:96369
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Birth length less than 3rd percentile, Stereotypical hand wringing, Short stature,... OMIM:614104
Leber Congenital Amaurosis 9
Ultra-low vision, Reduced visual acuity, Photophobia, Ultra-low vision with retained light percep... OMIM:608553
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Photophobia, Reduced visual acuity OMIM:617879
Cach Syndrome
Cerebellar vermis atrophy, Cognitive impairment, Lateral ventricle dilatation, Truncal ataxia, Ap... ORPHA:135
Autosomal Dominant Cerebellar Ataxia
Chorea, Somatic sensory dysfunction, Cognitive impairment, Postural tremor, Resting tremor, Akine... ORPHA:99
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Absent speech, Inappropriate laughter, Polyphagia, Broad-b... ORPHA:411515
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Cognitive impairment, Ataxia, Obesity, Dystonia ORPHA:459033
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Bradykinesia, Shuffling gait, Resting tremor, Spastic gait, Delayed speech and lang... OMIM:300055
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Postural tremor, Resting tremor, Leg dystonia, Anxiety, Bradykinesia OMIM:606324
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity OMIM:169150
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:271980
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Aceruloplasminemia
Gait ataxia, Chorea, Blepharospasm, Cognitive impairment, Akinesia, Torticollis, Apathy, Limb ata... ORPHA:48818
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Anxiety, Delayed speech and language development, Ataxia, Attention defic... OMIM:619725
Episodic Ataxia, Type 6
Diplopia, Truncal ataxia, Episodic ataxia, Phonophobia, Photophobia OMIM:612656
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Photophobia OMIM:610381
Retinal Cone Dystrophy 3B
Scotoma, Photophobia, Myopia, Reduced visual acuity, Nyctalopia OMIM:610356
Oculoskeletodental Syndrome
Conductive hearing impairment, Abnormality of thalamus morphology, Sensorineural hearing impairme... ORPHA:557003
Cone-Rod Dystrophy 21
Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Delayed speech and language development, Recurrent hand flapping, G... ORPHA:544254
Cone-Rod Dystrophy 15
Progressive visual loss, Color vision defect, Constriction of peripheral visual field, Photophobi... OMIM:613660
Choreoacanthocytosis
Progressive choreoathetosis, Aggressive behavior, Tics, Dementia, Emotional lability, Self-mutila... OMIM:200150
Cone-Rod Dystrophy 22
Reduced visual acuity, Photophobia OMIM:619531
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Achromatopsia 3
Monochromacy, Achromatopsia, Moderately reduced visual acuity, Dyschromatopsia, Severely reduced ... OMIM:262300
Supranuclear Palsy, Progressive, 2
Retrocollis, Frontolimbic dementia, Falls, Postural tremor, Akinesia, Gait imbalance, Apathy, Axi... OMIM:609454
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Ataxia, Obesity, Dystonia, Broad-based gait, Waddling gait OMIM:616756
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Abnormality of thalamus morphology, Difficulty walking, Oromandibular dystonia ORPHA:397725
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Tip-toe gai... OMIM:604360
Oligocone Trichromacy
Photophobia ORPHA:75378
Infantile Krabbe Disease
Blindness, Cachexia, Irritability, Psychomotor deterioration, Visual loss, Failure to thrive, Hyp... ORPHA:206436
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Hyperactivity, Dysdiadochokinesis, Delayed speech and language development, ... OMIM:610217
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Bipolar affective disorder, ... ORPHA:485350
Japanese Encephalitis
Distal upper limb muscle weakness, Abnormality of thalamus morphology, Cognitive impairment, EEG ... ORPHA:79139
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Xq25 Microduplication Syndrome
Hyperactivity, Speech articulation difficulties, Short stature, Anxiety ORPHA:521258
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Stereotypical hand wringing, Choreoathetosis, Absent speech, Dystonia, Bruxism OMIM:618497
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Cognitive impairment, EEG with generalized epileptiform... ORPHA:363558
Lopes-Maciel-Rodan Syndrome
Bruxism, Agitation, Absent speech, Tremor, Dysphagia, Unsteady gait, Dystonia, Bradykinesia OMIM:617435
Hartnup Disease
Emotional lability, Ataxia, Anxiety, Photophobia, Abnormality of vision ORPHA:2116
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Impaired social interactions, Ataxia, Absent speech, Attentio... OMIM:610042
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Absent speech, Decreased thalamic volume OMIM:618646
Retinal Cone Dystrophy 4
Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Visual impairment OMIM:610478
Leber Congenital Amaurosis 14
Congenital blindness, Reduced visual acuity, Photophobia, Nyctalopia OMIM:613341
Infantile Neuroaxonal Dystrophy
Hyperactivity, Choking episodes, Delayed speech and language development, Gait disturbance, Psych... ORPHA:35069
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... OMIM:619827
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Myoclonus, Abnorma... ORPHA:411986
Supranuclear Palsy, Progressive, 1
Retrocollis, Frontolimbic dementia, Falls, Akinesia, Gait imbalance, Limb dystonia, Apathy, Axial... OMIM:601104
Leber Congenital Amaurosis 6
Severely reduced visual acuity, High hypermetropia, Photophobia OMIM:613826
Cone-Rod Dystrophy, X-Linked, 3
Reduced visual acuity, Central scotoma, Color vision defect, Visual impairment, Myopia, Photophobia OMIM:300476
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Inability to walk, Hemidystonia, Emotional lability, Attenti... ORPHA:1929
Cone-Rod Dystrophy 16
Progressive visual loss, Reduced visual acuity, Photophobia, Nyctalopia OMIM:614500
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Paroxysmal bursts of laughter, Gait ataxia, Aggressive behavior, Echolalia, Inability to walk, De... OMIM:619580
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Photophobia ORPHA:438134
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Sensorineural hearing impairment, Hyposmia, Clinodactyly, Anosmia, Ectrodactyly, Agenesis of corp... OMIM:147950
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Delayed speech and language deve... ORPHA:163681
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Retinitis Pigmentosa 3
Reduced visual acuity, Color vision defect, Constriction of peripheral visual field, Ring scotoma... OMIM:300029
Lamb-Shaffer Syndrome
Hyperactivity, Delayed speech and language development, Mild postnatal growth retardation, Abnorm... ORPHA:530983
Microphthalmia, Isolated 5
High hypermetropia, Nyctalopia, Photophobia, Reduced visual acuity OMIM:611040
Buerger Disease
Skin ulcer ORPHA:36258
Parkinson Disease 17
Bradykinesia, Tremor, Resting tremor, Akinesia OMIM:614203
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Trichotillomania
Hair-pulling OMIM:613229
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia ORPHA:3198
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Cognitive impairment, Atrophy/Degeneration involving the spinal cord, Positive Rombe... ORPHA:70595
Retinitis Pigmentosa 32
Reduced visual acuity, Photophobia, Nyctalopia OMIM:609913
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Retinitis Pigmentosa 79
Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Nyctalopia OMIM:617460
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Myelitis, EEG with focal slow activity, Abnormal cerebellum morpholo... ORPHA:83597
Retinitis Pigmentosa
Blindness, Progressive night blindness, Photophobia, Visual impairment, Obesity ORPHA:791
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Oculocutaneous Albinism, Type Viii
Reduced visual acuity, Photophobia OMIM:619165
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Spinocerebellar Ataxia Type 7
Hemeralopia, Somatic sensory dysfunction, Blindness, Dysdiadochokinesis, Reduced visual acuity, A... ORPHA:94147
Oculopharyngodistal Myopathy 3
Photophobia, Ataxia OMIM:619473
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Superficial Siderosis
Cognitive impairment, Paresthesia, Dysdiadochokinesis, Progressive gait ataxia, Abnormal cerebell... ORPHA:247245
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Cognitive impairment, Limb dystonia, Delayed speech and language deve... ORPHA:363400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia, Absent speech, In... ORPHA:98794
Timothy Syndrome
Hypocalcemia OMIM:601005
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Skin ulcer, Gait dist... ORPHA:139578
Retinal Cone Dystrophy 3A
Photophobia, Dyschromatopsia, Reduced visual acuity, High myopia, Nyctalopia OMIM:610024
Corneal Dystrophy, Meesmann, 1
Reduced visual acuity, Photophobia OMIM:122100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Progressive neurologic deterioration, Increased body weight ORPHA:276608
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Delayed speech and language development, Ataxia, Impaired pain sensation, Loss of ambulation, Uns... OMIM:618124
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Anxiety, EEG with generalized s... ORPHA:397612
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Retinitis Pigmentosa 51
Reduced visual acuity, Obesity, Visual impairment, Photophobia, High myopia, Nyctalopia OMIM:613464
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, Short stature, Inability to walk, Absent speech, Irritability OMIM:617864
Irvan Syndrome
Vitreous floaters, Blurred vision, Reduced visual acuity, Photophobia ORPHA:209943
Lyme Disease
Amaurosis fugax, Memory impairment, Paresthesia, Photophobia ORPHA:91546
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Keratoendotheliitis Fugax Hereditaria
Blurred vision, Photophobia OMIM:148200
Tay-Sachs Disease
Distal upper limb muscle weakness, Exaggerated startle response, Limited elbow extension, Inabili... ORPHA:845
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language devel... OMIM:300354
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Pica, Hyperactivity, Tics, Happy demeanor, Ataxia, Absent speech, Tongue thrusting, Stereotypical... OMIM:617865
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Central scotoma, Dementia, Visual loss, Color vision defect, Visual i... ORPHA:52368
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interaction... ORPHA:449291
Intellectual Developmental Disorder With Autism And Macrocephaly
Pronoun reversal, Pica, Echolalia, Delayed speech and language development, Recurrent hand flappi... OMIM:615032
Boucher-Neuhauser Syndrome
Gait ataxia, Progressive visual loss, Photophobia, Ataxia OMIM:215470
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal emotion/affect behavior, Impaired social interactions, Delayed speech and... ORPHA:1942
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Birdshot Chorioretinopathy
Vitreous floaters, Blurred vision, Visual loss, Arcuate scotoma, Blind-spot enlargment, Photophobia ORPHA:179
Thiel-Behnke Corneal Dystrophy
Slow decrease in visual acuity, Photophobia ORPHA:98960
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Limb dystonia, Dementia, Mental deterioration OMIM:616840
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability, Ataxia, Absent speech OMIM:616881
Oculocutaneous Albinism Type 6
Reduced visual acuity, Photophobia ORPHA:370097
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
48,Xxyy Syndrome
Ataxia, Abnormal repetitive mannerisms, Tremor, Attention deficit hyperactivity disorder, Depress... ORPHA:10
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Hyperactivity, Crouch gait, Delayed speech and language development, Intrauterine gr... OMIM:620145
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Delayed speech and language development, Bipolar affective disorder, Absent speech... OMIM:619927
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Delayed speech and language d... OMIM:103050
Chromosome Xq25 Duplication Syndrome
Delayed speech and language development, Hyperactivity, Short stature, Anxiety OMIM:300979
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Cognitive impairment, Gait distu... ORPHA:43
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Short stature, Delayed speech and language development, Repetitive compulsive beha... ORPHA:352490
Flynn-Aird Syndrome
EEG abnormality, Skin ulcer, Progressive sensorineural hearing impairment, Ataxia, Dementia, Impa... ORPHA:2047
Gaucher Disease, Perinatal Lethal
Akinesia, Apathy, Progressive neurologic deterioration, Dysphagia, Opisthotonus, Neonatal death, ... OMIM:608013
Beta-Thalassemia
Irritability, Skin ulcer, Pallor ORPHA:848
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Abnormality of thalamus morphology, Wide nasal bridge, Abnormal nasal morphol... ORPHA:404440
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Abno... ORPHA:3306
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia, Phonophobia OMIM:607516
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormality of thalamus morphology, Prominent nose, Tapered fin... ORPHA:435638
Hydrolethalus
Postaxial hand polydactyly, Low-set, posteriorly rotated ears, Low-set ears, Abnormality of the s... ORPHA:2189
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
4Q21 Microdeletion Syndrome
Self-injurious behavior, Delayed speech and language development, Abnormal repetitive mannerisms,... ORPHA:238750
X-Linked Intellectual Disability, Hedera Type
Echolalia, Inability to walk, Delayed speech and language development, Gait disturbance, Dysmetri... ORPHA:93952
Migraine With Or Without Aura, Susceptibility To, 12
Photophobia, Phonophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Photophobia, Phonophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Photophobia, Phonophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Photophobia, Phonophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Photophobia, Phonophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Photophobia, Phonophobia OMIM:607498
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Migraine Without Aura, Susceptibility To, 4
Photophobia, Phonophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia, Phonophobia OMIM:607508
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Neovascular Glaucoma
Visual loss, Visual acuity test abnormality, Photophobia ORPHA:94058
X-Linked Creatine Transporter Deficiency
Chorea, Hyperactivity, Short stature, Delayed speech and language development, Ataxia, Athetosis,... ORPHA:52503
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615266
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Tremo... OMIM:618342
Bardet-Biedl Syndrome 17
Polydactyly, Cognitive impairment, Hyposmia, Mesoaxial polydactyly, Postaxial foot polydactyly, A... OMIM:615994
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Choreoacanthocytosis
Hair-pulling, Blepharospasm, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... ORPHA:2388
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Ataxia, Impaired vibratory sensation, Obesity, Dystonia OMIM:616267
Meningococcal Meningitis
Photophobia, Paresthesia, Irritability ORPHA:33475
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Inability to walk, Decreased amplitude of sensory action potentials, Skin ulcer, ... ORPHA:36386
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615271
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Inappropriate crying, Recurrent hand flapping, Gait disturbance, Agitation, Absent speech, Dyston... OMIM:617903
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:619467
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... ORPHA:313892
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Tip-toe gait, Short stature, Self-biting, Delayed speech and language develo... ORPHA:293939
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Abnor... ORPHA:391307
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Inappropriate crying, Generalized myoclonic seizure, Focal hyperkineti... ORPHA:77299
Developmental And Epileptic Encephalopathy 87
Hypsarrhythmia, Recurrent hand flapping, Infantile spasms, Seizure OMIM:618916
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, Delayed speech and language development, Dysmetria, Unsteady ... OMIM:617773
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Hearing impairment, Hyposmia OMIM:615996
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hostility, Chorea, Inability to walk, Repetitive compulsive behavior, Ataxia, Absent speech, Pain... OMIM:300260
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Anterior pituitary hypoplasia, Sensorineural hearing impair... ORPHA:3157
Chiari Malformation Type I
Gait ataxia, Paresthesia, Diplopia, Hyperacusis, Photophobia OMIM:118420
Gand Syndrome
Language impairment, Tics, Hyperactivity, Inappropriate laughter OMIM:615074
Dracunculiasis
Skin ulcer ORPHA:231
Intellectual Developmental Disorder, Autosomal Recessive 39
Delayed speech and language development, Hyperactivity, Aggressive behavior, Short stature OMIM:615541
Sjögren-Larsson Syndrome
Myopia, Photophobia ORPHA:816
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk, Depression, Absent speech OMIM:620114
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Short stature, Recurrent hand flapping, Gait distur... OMIM:300986
Meningioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Cognitive impairment, Ab... ORPHA:2495
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Self-injurious behavior, Short stature, Bipolar affective di... OMIM:601853
Rett Syndrome
Inability to walk, Stereotypical hand wringing, Gait disturbance, Abnormal repetitive mannerisms,... ORPHA:778
Angelman Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Delayed speech an... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Aggressive behavior, Delayed speech and language development, Ataxia, Absent speec... OMIM:616977
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia, Inappropriate laughter, Tongue t... ORPHA:411511
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... OMIM:261600
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Classic Mycosis Fungoides
Skin ulcer, Dry skin, Erythema ORPHA:2584
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Agita... OMIM:300558
Corneal Dystrophy, Congenital Stromal
Progressive visual loss, Photophobia OMIM:610048
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Gait disturbance, Dementia, Compulsive behaviors, Ataxia, Dysmetria, Dysest... ORPHA:93256
Rett Syndrome
Gait ataxia, Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Motor deterioration, Cach... OMIM:312750
Leigh Syndrome
Chorea, Abnormal dentate nucleus morphology, Macrotia, Sensorineural hearing impairment, Hypsarrh... ORPHA:506
Free Sialic Acid Storage Disease
Seizure, Skin ulcer, Gait disturbance, Ataxia, Athetosis ORPHA:834
Paternal Uniparental Disomy Of Chromosome 1
Progressive visual loss, Photophobia, Dyschromatopsia, Pain insensitivity, Obesity, Progressive p... ORPHA:251004
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Decreased motor nerve conduction velocity, Positive Romberg... OMIM:601152
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia, Absent speech OMIM:618598
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Albinism, Oculocutaneous, Type Vii
High hypermetropia, Photophobia, Reduced visual acuity OMIM:615179
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Paresthesia, Hyposmia, Impaired tactile sensation, Impaired p... OMIM:243000
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Delayed speech and language development, Agitation, Ab... OMIM:618056
Congenital Tufting Enteropathy
Failure to thrive, Photophobia, Irritability, Weight loss ORPHA:92050
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia OMIM:272800
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Baralle-Macken Syndrome
Inability to walk, Delayed speech and language development, Absent speech, Obesity, Dystonia OMIM:619255
Alazami Syndrome
Anxiety, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior, S... ORPHA:319671
Smith-Magenis Syndrome
Self-injurious behavior, Short stature, Delayed speech and language development, Gait disturbance... ORPHA:819
Sjogren-Larsson Syndrome
Color vision defect, Photophobia, Reduced visual acuity OMIM:270200
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Aggressive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Absent sp... ORPHA:476126
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Self-biting, Bulimia, Recurrent ... OMIM:300912
Optic Atrophy 11
Gait apraxia, Hyperactivity, Short stature, Ataxia, Absent speech, Dysmetria, Attention deficit h... OMIM:617302
Acrogeria
Skin ulcer, Excessive wrinkled skin ORPHA:2500
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Mucolipidosis Type Iv
Photophobia, Ataxia, Absent speech ORPHA:578
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, C... ORPHA:370959
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Alexander Disease Type I
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Ataxia ORPHA:363717
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in childhood, Akinesia, Death in infancy OMIM:619334
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormality of thalamus morphology, Ataxia, Cerebellar vermis hypoplasia ORPHA:467166
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Apathy, Dementia, Dystonia OMIM:272750
Holoprosencephaly
Abnormal antihelix morphology, Spinal dysraphism, Anterior hypopituitarism, Depressed nasal tip, ... ORPHA:2162
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Frontotemporal dementia, Hypersexuality, Apathy, Repetitive compulsive behavior, Agitation, Polyp... OMIM:607485
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebellum morphology, Hyposmia, Abnormal spinal cord morphology, Skin ulcer, Irritabili... ORPHA:68
Gorlin Syndrome
Palmar pits, Arachnodactyly, Wide nasal bridge, Brachydactyly, Abnormality of the sense of smell ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Attentio... OMIM:617600
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Failure to thrive, Myopia, Photophobia, Nyctalopia ORPHA:5
Jalili Syndrome
High hypermetropia, Monochromacy, Scotoma, Visual impairment, Photophobia, Nyctalopia OMIM:217080
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response, Difficulty walking ORPHA:320406
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Congenital Myopathy 9A
Short stature, Akinesia, Death in infancy OMIM:618822
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Anxiety, Delayed speech and language development, Repetitive compulsive behavior, Attention defic... ORPHA:391372
Citrullinemia Type Ii
Restlessness, Hyperactivity, Aggressive behavior, Echolalia, Irritability, Tremor, Abnormal eatin... ORPHA:247585
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Refsum Disease
Sensorineural hearing impairment, Short metacarpal, Ataxia, Anosmia, Hammertoe, Dry skin ORPHA:773
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Short toe, Tapered finger, Short 4th metacarpal, Aplasia/Hypoplasia of t... ORPHA:3201
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Leber Congenital Amaurosis 15
Hemeralopia, Reduced visual acuity, Photophobia, Color vision defect, Eye poking, Constriction of... OMIM:613843
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Cerebellar hypoplasia, Decreased thalamic volume OMIM:619072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Anxiety, Dystonia, Broad-based gait ORPHA:438216
Arnold-Chiari Malformation Type I
Gait ataxia, Somatic sensory dysfunction, Diplopia, Fatigable weakness of swallowing muscles, Dys... ORPHA:268882
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Inability to walk, Severe receptive language delay, Limb dystonia, Abnor... ORPHA:457351
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Bradykinesia, Resting tremor, Dementia OMIM:607060
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Choreoathetosis, Ataxia, Mental deterioration OMIM:278730
Insulinoma
Paresthesia, Abnormality of pain sensation, Tremor, Lethargy, Transient global amnesia, Increased... ORPHA:97279
Nmda Receptor Encephalitis
Chorea, No social interaction, Hypersexuality, Oculogyric crisis, Choreoathetosis, Abnormal repet... ORPHA:217253
Combined Oxidative Phosphorylation Defect Type 7
Cognitive impairment, Inability to walk, Ataxia, Impaired tandem gait, Abnormal thalamic MRI sign... ORPHA:254930
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Short phalanx of finger, Abnormal dentate nucleus morpholog... ORPHA:59315
Acrodermatitis Enteropathica
Weight loss, Emotional lability, Failure to thrive, Visual impairment, Photophobia ORPHA:37
22Q11.2 Duplication Syndrome
Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive behaviors, At... ORPHA:1727
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... ORPHA:261197
Adult Polyglucosan Body Disease
Skin ulcer, Gait disturbance, Ataxia, Dementia, Distal sensory impairment ORPHA:206583
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired vibration sensation in the lower limbs, Distal upper limb muscle weakness, Decreased mot... OMIM:613640
Peroxisome Biogenesis Disorder 9B
Anosmia, Sensorineural hearing impairment, Ataxia OMIM:614879
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Babesiosis
Photophobia ORPHA:108
Progeria-Short Stature-Pigmented Nevi Syndrome
Cognitive impairment, Paresthesia, Abnormality of thalamus morphology, Progressive sensorineural ... ORPHA:2959
Myopathy With Extrapyramidal Signs
Chorea, Hyperactivity, Delayed speech and language development, Choreoathetosis, Ataxia, Tremor, ... OMIM:615673
Rett Syndrome, Congenital Variant
Chorea, Impaired social interactions, Inappropriate crying, Absent speech, Athetosis, Tongue thru... OMIM:613454
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Amaurosis-Hypertrichosis Syndrome
High hypermetropia, Photophobia, Visual impairment ORPHA:1021
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Short nasal septum, ... OMIM:302950
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal epileptiform discharges,... ORPHA:98795
Necrobiosis Lipoidica
Skin ulcer, Erythema ORPHA:542592
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Sensorineural hearing impairment, Hyposmia OMIM:612702
Leigh Syndrome With Cardiomyopathy
Chorea, Abnormality of thalamus morphology, Ataxia, Mental deterioration, Dystonia, Hearing impai... ORPHA:70474
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Hand tremor, Gait disturbance, Increased body weight ORPHA:589905
Dpagt1-Cdg
Aggressive behavior, Head-banging, Emotional blunting, Akinesia, Inability to walk, Delayed speec... ORPHA:86309
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Reduced visual acuity, Ataxia, Dysmetria, Constriction of peripheral visual field, Photophobia OMIM:618527
Hyperostosis Cranialis Interna
Sensorineural hearing impairment, Hyposmia, Anosmia, Chiari type I malformation, Tinnitus OMIM:144755
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Delayed speech and language development, Ataxia, Anxiety OMIM:618430
Congenital Hypothyroidism
Paresthesia, Depressed nasal ridge, Anterior hypopituitarism, Anosmia, Depression, Anxiety, Heari... ORPHA:442
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Agita... ORPHA:369891
Retinitis Pigmentosa 23
Mild myopia, Color vision defect, Constriction of peripheral visual field, Severely reduced visua... OMIM:300424
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Retinitis Pigmentosa 37
Tritanomaly, Red-green dyschromatopsia, Photophobia, Constriction of peripheral visual field, Red... OMIM:611131
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Clinodactyly, Bifid nose, Hyposmia OMIM:614838
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language development, Impul... OMIM:620141
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Rhizomelia, Short stature, Delayed speech and language develo... ORPHA:319182
Chilblain Lupus
Skin ulcer ORPHA:90280
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
Obesity Due To Sim1 Deficiency
Memory impairment, Cognitive impairment, Obesity ORPHA:369873
Retinal Dystrophy With Or Without Macular Staphyloma
Reduced visual acuity, Central scotoma, Truncal obesity, Photophobia, Nyctalopia OMIM:617547
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Death in childhood, Progres... OMIM:268800
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Xeroderma Pigmentosum Variant
Photophobia ORPHA:90342
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Johnson Neuroectodermal Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Preaxial hand polydactyly,... ORPHA:2316
Stiff-Person Syndrome
Exaggerated startle response, Depression, Anxiety, Agoraphobia, Opisthotonus OMIM:184850
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Jalili Syndrome
Color vision defect, Photophobia, Visual impairment ORPHA:1873
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Short stature, Truncal ataxia, Recurrent hand flapping, Limb ataxia, Bro... OMIM:617101
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Echolalia, Delayed speech and language development, Conspicuo... OMIM:123450
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Hemidystonia, Recurrent hand flapping, Torticollis, Happy demeanor, Delayed ... OMIM:619680
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Perrault Syndrome 4
Gait ataxia, Obesity, Cognitive impairment, Disproportionate tall stature OMIM:615300
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Finger joint hypermobility, Anosmia, Hearing impairment, Hyposmia OMIM:244200
Refsum Disease, Classic
Somatic sensory dysfunction, Anosmia, Sensorineural hearing impairment, Ataxia OMIM:266500
Oculocutaneous Albinism Type 1
Amblyopia, Photophobia, Reduced visual acuity ORPHA:352731
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Chorea, Self-biting, Choreoathetosis, Repetitive compulsive behavior, Abnormal repetitive manneri... ORPHA:522077
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Arthrogryposis Multiplex Congenita 5
Akinesia, Death in infancy, Delayed speech and language development, Hand tremor, Absent speech, ... OMIM:618947
Cataract 2, Multiple Types
Amblyopia, Photophobia, Visual impairment OMIM:604307
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Death in childhood, Growth delay, Akinesia, Absent speech OMIM:619147
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Distal sensory impairment OMIM:256850
Retinitis Pigmentosa 72
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, High myopia, Nyctalopia OMIM:616469
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Delayed speech and language development, Abnormal repetitive mannerisms, Ata... ORPHA:457279
Tick-Borne Encephalitis
Somatic sensory dysfunction, Cognitive impairment, Fatigable weakness of respiratory muscles, Vis... ORPHA:297
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Hypsarrhythmia, Abnormal thalamic MRI signal intensity, Abnormal nonverbal commu... ORPHA:485421
Cockayne Syndrome Type 2
Photophobia, Ataxia, Visual impairment ORPHA:90322
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Corneal Dystrophy, Reis-Bucklers Type
Reduced visual acuity, Photophobia OMIM:608470
Hypophosphatasia
Hypercalcemia ORPHA:436
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Focal T2 hyperintense thalamic lesion OMIM:619057
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Short stature, Impaired social interactions, Recurr... OMIM:156200
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Infantile spasms, Abnormal repetitive mannerisms, Pachygyria ORPHA:572013
Familial Drusen
Visual loss, Photophobia, Metamorphopsia, Paracentral scotoma ORPHA:75376
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:617913
Kallmann Syndrome
Sensorineural hearing impairment, Hyposmia, Anterior hypopituitarism, Hypothalamic gonadotropin-r... ORPHA:478
Axial Spondylometaphyseal Dysplasia
Photophobia, Amblyopia, Dyschromatopsia, Reduced visual acuity ORPHA:168549
Ollier Disease
Skin ulcer ORPHA:296
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Transketolase Deficiency
Self-injurious behavior, Delayed speech and language development, Abnormal repetitive mannerisms,... ORPHA:488618
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Thumb Agenesis, Short Stature, And Immunodeficiency
Absent thumb, Anosmia OMIM:274190
Oromandibular Dystonia
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Depression, Dysp... ORPHA:93958
Paroxysmal Hemicrania
Photophobia, Phonophobia ORPHA:157835
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Choreoathetosis, Akinesia OMIM:618249
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Ataxia, Absent speech, Bruxism OMIM:616393
Cystinosis
Failure to thrive, Photophobia, Visual impairment ORPHA:213
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Progressive neurologic deterioration, Lethargy, Increased body... ORPHA:263455
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Absent speech, Low frustration tolerance, Self-mutilation OMIM:300486
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnesemia, Hypoa... ORPHA:37042
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Wide nose, Camptodactyly of finger, Finger syndactyly, Abnormal metaca... ORPHA:284160
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Angelman Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Progressive gait ataxia, Absent speech, Limb tremor... OMIM:105830
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79443
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia OMIM:614457
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Sensorineural hearing impairment, Hyposmia, Hypoesthesia, Impaired proprioception, Pain insensiti... OMIM:616488
Encephalitis Lethargica
Photophobia, Diplopia, Mental deterioration ORPHA:83600
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Hypoplasia of the ulna, Split foot, Split hand, Low-... ORPHA:958
Aural Atresia, Congenital
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal OMIM:607842
Behçet Disease
Blindness, Paresthesia, Weight loss, Irritability, Ataxia, Photophobia, Memory impairment ORPHA:117
7Q11.23 Microduplication Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Short stature, Impaired social inter... ORPHA:96121
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Delayed speech and language development, Impaired pain sensation, I... ORPHA:412035
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Retinal Arteries, Tortuosity Of
Visual loss, Photophobia OMIM:180000
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Abnormal metacarpal morphology, Short nose, Anosmia, Brachydactyly, ... ORPHA:1295
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Cutaneous finger syndactyly OMIM:210745
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Delayed speech and language development, Ataxia, Tremor, Progressive neurol... OMIM:614947
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Ataxia OMIM:308700
Retinitis Pigmentosa 25
Photophobia, Constriction of peripheral visual field, Nyctalopia OMIM:602772
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Gait disturbance, Dementia, Ataxia, Overweight, Mental deterioration, Obesity,... ORPHA:2822
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Aggressive behavior, Shuffling gait, Short stature, Delayed speech and language de... OMIM:300534
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia OMIM:614880
Lujo Hemorrhagic Fever
Photophobia, Anxiety, Mental deterioration ORPHA:319213
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Myopia, Failure to thrive, Photophobia OMIM:242150
Johnson Neuroectodermal Syndrome
Choanal stenosis, Conductive hearing impairment, Microtia, Anosmia, Protruding ear, Atresia of th... OMIM:147770
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hearing impairment OMIM:615267
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Opisthotonus, Ataxia, Absent speech OMIM:619913
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Tyrosinemia Type 2
Visual loss, Photophobia, Ataxia ORPHA:28378
Laurence-Moon Syndrome
Obesity, Ataxia OMIM:245800
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Cone-Rod Dystrophy 10
Progressive visual loss, Photophobia, Peripheral visual field loss, Nyctalopia OMIM:610283
Chromosome 16Q12 Duplication Syndrome
Tritanomaly, Photophobia, Paracentral scotoma, Reduced visual acuity, High myopia, Nyctalopia OMIM:619649
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Short stature, Absent speech, Tremor, Broad-based gait ORPHA:85293
Polyarteritis Nodosa
Skin ulcer, Erythema ORPHA:767
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk OMIM:609541
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Ataxia OMIM:308750
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Sensorineural hearing impairment OMIM:612370
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Dysmetria, Difficulty walking, Mental... ORPHA:139396
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Albinism, Ocular, Type I
Photophobia, Visual impairment OMIM:300500
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:444013
Flotch Syndrome
Photophobia ORPHA:2045
Smith-Magenis Syndrome
Head-banging, Self hugging, Delayed speech and language development, Impaired pain sensation, Inc... OMIM:182290
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Abnormal repetitive mannerisms, Absent speech, Growth delay, Dysphagia, Dystonia ORPHA:496641
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Myoclonic spasms, Hypsarrhythmia, Abnormal repetitive mannerisms, Bilateral tonic-c... ORPHA:447997
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Congenital Myopathy 12
Akinesia, Death in infancy OMIM:612540
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Visual loss, Photophobia, Failure to thrive in infancy, Visual impairment OMIM:301220
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment ORPHA:1000
Cone-Rod Dystrophy 8
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia OMIM:605549
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Choanal atresia,... OMIM:147250
Alstrom Syndrome
Blindness, Visual loss, Constriction of peripheral visual field, Truncal obesity, Photophobia OMIM:203800
Takayasu Arteritis
Skin ulcer, Seizure ORPHA:3287
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Obesity, Memory impairment, Action tremor ORPHA:77296
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Photophobia OMIM:617388
Oculocutaneous Albinism Type 5
Reduced visual acuity, Photophobia ORPHA:370091
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Wilson Disease
Hyposmia, Limb dystonia, Hand tremor, Dementia, Hypoesthesia, Tremor, Decreased nerve conduction ... OMIM:277900
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Wide nasal bridge, Cerebellar hypoplasia, Depressed nasal tip, Fusion o... OMIM:619306
Lichen Planopilaris
Skin ulcer ORPHA:525
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Cockayne Syndrome Type 1
Failure to thrive, Photophobia, Ataxia, Visual impairment ORPHA:90321
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Akinesia ORPHA:994
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Cone-Rod Dystrophy 6
Hemeralopia, Progressive night blindness, Photophobia, Dyschromatopsia, Reduced visual acuity, Pe... OMIM:601777
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Photophobia OMIM:618535
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Suicidal ideation, Repetitive compulsive behavior, Violent behavior, Isometric tremor, Aggressive... OMIM:619475
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Delayed speech and language development, Photophobia OMIM:601675
Ataxia-Telangiectasia-Like Disorder 2
Photophobia, Ataxia OMIM:615919
Sunct Syndrome
Photophobia ORPHA:57145
Central Precocious Puberty
Overgrowth, Obesity, Increased body weight ORPHA:759
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Familial Multiple Nevi Flammei
Skin ulcer, Seizure ORPHA:624
Campomelic Dysplasia
Depressed nasal bridge, Low-set ears, Abnormality of the sense of smell, Hearing impairment, Tali... ORPHA:140
Epithelial Recurrent Erosion Dystrophy
Progressive visual loss, Photophobia, Blurred vision ORPHA:293381
Vernal Keratoconjunctivitis
Photophobia ORPHA:70476
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Ataxia ORPHA:2720
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Cognitive impairment, Reduced visual acuity, Dementia, Ataxia, Photo... ORPHA:167
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Lattice Corneal Dystrophy Type I
Visual loss, Slow decrease in visual acuity, High myopia, Photophobia ORPHA:98964
Calciphylaxis
Skin ulcer ORPHA:280062
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Charcot-Marie-Tooth Disease Type 4B2
Distal upper limb muscle weakness, Tip-toe gait, Sensorineural hearing impairment, Inability to w... ORPHA:99956
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Short stature, Delayed speech and la... ORPHA:468678
Prader-Willi Syndrome Due To Translocation
Head-banging, Short stature, Impaired social interactions, Delayed speech and language developmen... ORPHA:177907
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Torticollis, Hypoplasia of... OMIM:609136
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Skin ulcer ORPHA:69126
Musk, Inability To Smell
Anosmia OMIM:254150
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms, Polymicrogyria ORPHA:500159
X-Linked Recessive Ocular Albinism
Myopia, Photophobia, Visual impairment ORPHA:54
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Idiopathic Panuveitis
Blindness, Vitreous floaters, Blurred vision, Photophobia, Reduced visual acuity, Abnormality of ... ORPHA:280921
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia OMIM:612843
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Xeroderma Pigmentosum
Failure to thrive, Photophobia, Cognitive impairment, Ataxia ORPHA:910
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia OMIM:308800
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia OMIM:618841
Severe Early-Childhood-Onset Retinal Dystrophy
Peripheral visual field loss, Blurred vision, Photophobia, Color vision defect, Delayed social de... ORPHA:364055
Ichthyosis, Congenital, Autosomal Recessive 11
Photophobia OMIM:602400
Boutonneuse Fever
Photophobia ORPHA:83313
Optic Atrophy-Intellectual Disability Syndrome
Short stature, Repetitive compulsive behavior, Absent speech, Compulsive behaviors, Attention def... ORPHA:401777
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
African Trypanosomiasis
Somatic sensory dysfunction, Aggressive behavior, Paresthesia, Akinesia, Choreoathetosis, Apathy,... ORPHA:3385
Leptin Receptor Deficiency
Aggressive behavior, Decreased response to growth hormone stimulation test, Abnormal hypothalamus... OMIM:614963
Pearson Syndrome
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:699
Magel2-Related Prader-Willi-Like Syndrome
Cognitive impairment, Delayed speech and language development, Compulsive behaviors, Failure to t... ORPHA:398069
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum OMIM:616576
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Infantile Nephropathic Cystinosis
Failure to thrive, Photophobia, Cognitive impairment ORPHA:411629
Autoimmune Polyendocrinopathy Type 1
Photophobia, Visual impairment ORPHA:3453
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Brain-Lung-Thyroid Syndrome
Chorea, Hyperactivity, Falls, Short stature, Choreoathetosis, Ataxia, Compulsive behaviors, Growt... ORPHA:209905
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Elevated circulating follicle stimulating hormone level, Abnormality of the sense of smell OMIM:228300
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Cerebellar cortical atrophy, Sensorineural hearing impairment, Hype... ORPHA:521426
Reactive Arthritis
Photophobia, Cognitive impairment, Weight loss ORPHA:29207
Clouston Syndrome
Photophobia OMIM:129500
Pituitary Apoplexy
Diplopia, Abnormal static automated perimetry test, Reduced visual acuity, Abnormal kinetic perim... ORPHA:95613
Reversible Cerebral Vasoconstriction Syndrome
Blurred vision, Photophobia, Phonophobia ORPHA:284388
Cryoglobulinemic Vasculitis
Skin ulcer, Purpura, Petechiae ORPHA:91138
Scrub Typhus
Photophobia ORPHA:83317
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Ataxia, Action tremor, Growth delay, Dystonia, Intrauterine growt... ORPHA:66634
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Cerebellar hypoplasia, EEG with burst suppression, Hypsar... OMIM:615574
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Birth length less than 3rd percentile, Delayed speech and language development, Gait disturbance,... ORPHA:464311
Cone-Rod Dystrophy And Hearing Loss 1
Hemeralopia, Photophobia, Visual impairment, Dyschromatopsia OMIM:617236
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Trichothiodystrophy
Gait ataxia, Myopia, Photophobia, Reduced social reciprocity ORPHA:33364
Hermansky-Pudlak Syndrome 6
Amblyopia, Photophobia, Reduced visual acuity OMIM:614075
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Seizure, Erythema ORPHA:659
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Cockayne Syndrome
Somatic sensory dysfunction, Progressive visual loss, Cognitive impairment, Progressive gait atax... ORPHA:191
Retinitis Punctata Albescens
Progressive visual loss, Progressive night blindness, Central scotoma, Progressive visual field d... ORPHA:52427
Phelan-Mcdermid Syndrome
Aggressive behavior, Impaired social interactions, Delayed speech and language development, Impai... OMIM:606232
Oculocutaneous Albinism Type 4
Reduced visual acuity, Photophobia ORPHA:79435
Posterior Polymorphous Corneal Dystrophy
Amblyopia, Reduced visual acuity, Blurred vision, Very low visual acuity, Photophobia ORPHA:98973
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Hypomagnesemia, Hypermagnesemia ORPHA:358
Prolidase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Skin ulcer, Petechiae OMIM:170100
Chediak-Higashi Syndrome
Photophobia, Ataxia, Reduced visual acuity OMIM:214500
Holoprosencephaly 7
Macrotia, Wide nasal bridge, Absent nasal septal cartilage, Bifid nose, Panhypopituitarism, Short... OMIM:610828
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
2-3 toe syndactyly, Tapered finger, Hyposmia, Delayed speech and language development, Overlappin... OMIM:618653
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Intellectual Disability, Buenos-Aires Type
Photophobia ORPHA:3079
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Abnormality of thalamus morphology ORPHA:88619
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Seizure, EEG abnormality ORPHA:2479
Prolidase Deficiency
Arachnodactyly, Depressed nasal ridge, Skin ulcer, Depressed nasal bridge, Dry skin, Erythema, Bi... ORPHA:742
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
Achromatopsia 2
Hemeralopia, Photophobia, Achromatopsia, Reduced visual acuity, Nyctalopia OMIM:216900
Isolated Follicle Stimulating Hormone Deficiency
Anosmia, Gonadotropin deficiency ORPHA:52901
Hermansky-Pudlak Syndrome 11
Reduced visual acuity, Photophobia OMIM:619172
Congenital Microcoria
Hemeralopia, Axial myopia, Blindness, Blurred vision, Visual impairment, Photophobia, Nyctalopia ORPHA:566
Late-Onset Retinal Degeneration
Tritanomaly, Red-green dyschromatopsia, Abnormal best corrected visual acuity test, Visual loss, ... ORPHA:67042
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Incontinentia Pigmenti
Camptodactyly of finger, Cognitive impairment, Abnormal hand morphology, Finger syndactyly, Skin ... ORPHA:464
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Short stature, Delayed speech and language development, Gait disturbance, Abnormal... ORPHA:464306
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema OMIM:608068
Limbal Stem Cell Deficiency
Reduced visual acuity, Photophobia ORPHA:171673
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... ORPHA:353281
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum OMIM:150550
Ifap Syndrome 2
Photophobia OMIM:619016
Chikungunya
Diminished motivation, Photophobia, Paresthesia ORPHA:324625
Mucopolysaccharidosis, Type Vii
Photophobia, Visual impairment OMIM:253220
Hyperlysinemia
Hyperactivity, Tip-toe gait, Short stature, Delayed speech and language development, Dysmetria, T... ORPHA:2203
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Giant Cell Arteritis
Conductive hearing impairment, Paresthesia, Skin ulcer, Recurrent pharyngitis, Ataxia, Epistaxis,... ORPHA:397
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
Hermansky-Pudlak Syndrome 1
Severely reduced visual acuity, Photophobia, Blindness OMIM:203300
Ermine Phenotype
Photophobia ORPHA:999
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Recurrent bronchitis, Nasal polyposis, Chronic rhinitis, Anosmia OMIM:244400
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Delayed speech and language development, Echolalia, Absent speech, Increased body weight OMIM:300860
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum ORPHA:49566
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Granular Corneal Dystrophy Type I
Reduced visual acuity, Photophobia, Visual impairment ORPHA:98962
Hermansky-Pudlak Syndrome
Amblyopia, Weight loss, Visual impairment, Myopia, Photophobia ORPHA:79430
Monosomy 22Q13.3
Macrotia, Cerebellar cortical atrophy, Hair-pulling, Wide nasal bridge, Delayed speech and langua... ORPHA:48652
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Adducted thumb, Low-set ears, Abno... ORPHA:2570
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Kleefstra Syndrome
Aggressive behavior, Self-injurious behavior, Short stature, Delayed speech and language developm... ORPHA:261494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Albinism, Oculocutaneous, Type Ia
Myopia, Reduced visual acuity, Photophobia, Visual impairment OMIM:203100
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Catastrophic Antiphospholipid Syndrome
Chorea, Skin ulcer, Dementia ORPHA:464343
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity ORPHA:309155
Joubert Syndrome 8
Obesity, Ataxia, Absent speech OMIM:612291
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia ORPHA:199299
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Palmoplantar hyperhidrosis, Short nose, Singl... OMIM:617527
Cushing Disease
Pituitary corticotropic cell adenoma, Striae distensae, Suicidal ideation, Skin ulcer, Purpura, D... ORPHA:96253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pyramidal... OMIM:253800
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Cystinosis, Nephropathic
Blindness, Weight loss, Reduced visual acuity, Progressive neurologic deterioration, Visual impai... OMIM:219800
Oculocutaneous Albinism Type 1B
Photophobia, Visual impairment ORPHA:79434
Dominant Beta-Thalassemia
Irritability, Skin ulcer, Pallor ORPHA:231226
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Argininemia
Hyperactivity, Irritability, Spastic gait, Postnatal growth retardation OMIM:207800
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Hyperekplexia 1
Exaggerated startle response OMIM:149400
8P11.2 Deletion Syndrome
External ear malformation, Depressed nasal bridge, Anosmia, Talipes equinovarus ORPHA:251066
Cockayne Syndrome Type 3
Hypermetropia, Cognitive impairment, Progressive neurologic deterioration, Photophobia ORPHA:90324
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Oculocutaneous Albinism Type 1A
Photophobia, Visual impairment ORPHA:79431
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... OMIM:619991
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction, Cognitive impairment, Abnormal cerebellum morphology, Abnorm... ORPHA:289390
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms, Absent speech, Disproportionate short stature,... ORPHA:508533
Lymphedema-Distichiasis Syndrome
Photophobia ORPHA:33001
Idiopathic Anterior Uveitis
Blurred vision, Photophobia ORPHA:280914
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gait ataxia, Hyperactivity, Aggressive behavior, Short stature, Delayed speech and language devel... OMIM:614756
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Bickerstaff Brainstem Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, Ataxia, Impaired proprioception, Abno... ORPHA:79138
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Hearing impairment, Abnormality of the pituitary gland, Self-mu... ORPHA:314621
Chronic Mucocutaneous Candidiasis
Skin ulcer, Seizure, Erythema ORPHA:1334
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypermetropia, Photophobia ORPHA:79396
Macular Corneal Dystrophy
Severely reduced visual acuity, Photophobia ORPHA:98969
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer ORPHA:2314
Cystinosis, Adult Nonnephropathic
Photophobia OMIM:219750
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the earlobes, Microtia, Anterior hypo... ORPHA:138
Wilson Disease
Failure to thrive, Difficulty walking, Weight loss, Increased body weight ORPHA:905
Coccidioidomycosis
Blurred vision, Photophobia, Cognitive impairment ORPHA:228123
Leopard Syndrome 1
Sensorineural hearing impairment, Depressed nasal ridge, Hyposmia, Limited elbow movement, Spina ... OMIM:151100
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Xeroderma Pigmentosum, Variant Type
Photophobia OMIM:278750
Kid Syndrome
Visual loss, Failure to thrive, Photophobia ORPHA:477
Stevens-Johnson Syndrome
Photophobia, Weight loss, Visual impairment ORPHA:36426
2Q37 Microdeletion Syndrome
Short stature, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsi... ORPHA:1001
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin... ORPHA:529799
Hermansky-Pudlak Syndrome 2
Photophobia, Reduced visual acuity OMIM:608233
Xeroderma Pigmentosum, Complementation Group E
Photophobia OMIM:278740
Toxic Epidermal Necrolysis
Visual loss, Photophobia, Weight loss ORPHA:537
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Reynolds Syndrome
Skin ulcer ORPHA:779
Acute Adrenal Insufficiency
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia ORPHA:95409
Mucopolysaccharidosis Type 2
Hyperactivity, Aggressive behavior, Cognitive impairment, Short stature, Abnormal repetitive mann... ORPHA:580
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... OMIM:611584
Beta-Thalassemia Major
Irritability, Skin ulcer, Pallor ORPHA:231214
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Growth delay OMIM:608800
Lacrimoauriculodentodigital Syndrome
Absent thumb, Conductive hearing impairment, Sensorineural hearing impairment, Finger syndactyly,... ORPHA:2363
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Werner Syndrome
Lack of skin elasticity, Convex nasal ridge, Skin ulcer, Small hand ORPHA:902
Occipital Horn Syndrome
Humerus varus, Abnormality of the wrist, Brachydactyly, Abnormality of the sense of smell, Short ... ORPHA:198
Hereditary Spherocytosis
Skin ulcer, Ataxia, Pallor ORPHA:822
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Glycine Encephalopathy With Normal Serum Glycine
Hand clenching, Exaggerated startle response, Elbow flexion contracture, Overlapping toe, Depress... OMIM:617301
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia, Sensorineural hearing impairment ORPHA:2326
Xeroderma Pigmentosum, Complementation Group C
Photophobia OMIM:278720
Parkes Weber Syndrome
Somatic sensory dysfunction, Abnormality of the upper limb, Conus terminalis arteriovenous malfor... ORPHA:90307
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Photophobia OMIM:219900
Pheochromocytoma
Hypercalcemia OMIM:171300
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Corneodermatoosseous Syndrome
Hemeralopia, Photophobia, Nyctalopia ORPHA:3194
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... ORPHA:353277
Hajdu-Cheney Syndrome
Wide nose, Short toe, Chiari malformation, Wide nasal bridge, Skin ulcer, Syringomyelia, Partial ... ORPHA:955
Pgm3-Cdg
Cortical myoclonus, Seizure, Myoclonus, Skin ulcer, Ataxia ORPHA:443811
Mastocytosis
Hypercalcemia ORPHA:98292
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Delayed speech and language development, Repetitive compulsive behavior, Absent spee... ORPHA:513456
Hereditary Sensory And Autonomic Neuropathy Type 4
Somatic sensory dysfunction, Hyperactivity, Abnormal emotion/affect behavior, Impulsivity, Pain i... ORPHA:642
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Photophobia OMIM:609944
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Cognitive impairment, Memory impairment, Abdominal obesity, Increased body weight ORPHA:189427
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Hydranencephaly
Infantile sensorineural hearing impairment, Thalamic edema, Atrophic pituitary gland, Dysgenesis ... ORPHA:2177
Cancer-Associated Retinopathy
Central scotoma, Dyschromatopsia, Visual loss, Progressive visual field defects, Photophobia, Par... ORPHA:71505
Rift Valley Fever
Photophobia, Scotoma, Reduced visual acuity ORPHA:319251
Microscopic Polyangiitis
Skin ulcer, Erythema ORPHA:727
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220393
Gapo Syndrome
Photophobia OMIM:230740
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Anxiety OMIM:619718
Leukonychia Totalis
Photophobia ORPHA:2387
Livedoid Vasculopathy
Macular purpura, Skin ulcer, Ecchymosis ORPHA:542643
Oculocutaneous Albinism
Photophobia, Reduced visual acuity ORPHA:55
Oculocutaneous Albinism Type 2
Photophobia, Reduced visual acuity ORPHA:79432
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Dementia, Failure to thrive, Mental deterioration, Myopia, Photophobia ORPHA:2273
Tuberous Sclerosis Complex
Hyperactivity, Aggressive behavior, Self-injurious behavior, Repetitive compulsive behavior, Abno... ORPHA:805
Primary Pigmented Nodular Adrenocortical Disease
Cognitive impairment, Memory impairment, Abdominal obesity, Increased body weight ORPHA:189439
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Seizure, Self-injurious behavior, Simplified gyral pattern, Lissence... ORPHA:468631
Adult Syndrome
Skin ulcer, Dry skin ORPHA:978
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
Meige Disease
Skin ulcer ORPHA:90186
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Sotos Syndrome
Delayed speech and language development, Absent speech, Overgrowth, Tall stature, Expressive lang... OMIM:117550
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Charge Syndrome
Sensorineural hearing impairment, Gonadotropin deficiency, Decreased response to growth hormone s... OMIM:214800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Infantile Systemic Hyalinosis
Camptodactyly of finger, Skin ulcer, Short palm, Brachydactyly ORPHA:2176
Angioosteohypertrophic Syndrome
Cognitive impairment, Finger syndactyly, Skin ulcer, Hand polydactyly, Hemihypertrophy of upper l... ORPHA:2346
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Legius Syndrome
Hyperactivity, Cognitive impairment, Short stature, Delayed speech and language development, Atte... ORPHA:137605
Odontoonychodermal Dysplasia
Photophobia OMIM:257980
Lymphedema-Distichiasis Syndrome
Photophobia OMIM:153400
Juvenile Dermatomyositis
Skin ulcer, Dry skin, Erythema ORPHA:93672
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Cogan Syndrome
Reduced visual acuity, Blindness, Photophobia ORPHA:1467
Addison Disease
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia ORPHA:85138
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anosmia, Hyposmia ORPHA:2250
1P36 Deletion Syndrome
Self-injurious behavior, Short stature, Delayed speech and language development, Gait disturbance... ORPHA:1606
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal conus terminalis morphology, Osteolysis involving bones of the upper limbs, Thalamic hem... ORPHA:464321
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Intrauterine growth retardation ORPHA:79255
Crimean-Congo Hemorrhagic Fever
Photophobia, Emotional lability ORPHA:99827
Hereditary Cryohydrocytosis With Reduced Stomatin
Brachydactyly, Macrotia, Ataxia, Decreased thalamic volume ORPHA:168577
Immunoglobulin A Vasculitis
Skin ulcer, Purpura, Seizure, Erythema ORPHA:761
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Inability to walk, Stereotypical hand wringing, Short stature, Abse... ORPHA:438213
Bosma Arhinia Microphthalmia Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia of the nose, Absen... OMIM:603457
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypermetropia, Photophobia OMIM:210730
Eec Syndrome
Photophobia ORPHA:1896
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Striae distensae, Suicidal ideation, Anxiety, Skin ulcer, P... ORPHA:99889
Corneal Dystrophy, Posterior Polymorphous, 1
Photophobia OMIM:122000
Digeorge Syndrome
Hypocalcemia OMIM:188400
Amoebic Keratitis
Photophobia ORPHA:67043
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Visual loss, Photophobia, Blindness, Anxiety ORPHA:95455
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Seizure, Skin ulcer, Status epilepticus, Scaling skin, Dry skin ORPHA:2526
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Short stature, Death in infancy, Abnormal repetitive mannerisms, Compuls... ORPHA:534
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Skin ulcer, Abnormal metacarpal morphology, Palmoplan... ORPHA:2907
Chime Syndrome
Depressed nasal ridge, Skin ulcer, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of t... ORPHA:3474
Sarcoidosis, Susceptibility To, 1
Blurred vision, Photophobia, Weight loss OMIM:181000
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Tapered finger, Short 5th finger, Wide nasal bridge, Tethered cord, Posteriorly rotated ears, Sho... OMIM:619522
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Alacrima, Congenital, Autosomal Dominant
Photophobia OMIM:103420
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Purpura, Ataxia OMIM:615688
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Generalized myoclonic seizure, Skin ulcer, Limb ataxia, Ecchymosis, Broad-based gait, Bilateral t... ORPHA:2072
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Ppoma
Hypercalcemia ORPHA:97278
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Isolated Congenital Alacrima
Photophobia ORPHA:91416
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Dyskeratosis Congenita
Skin vesicle, Skin ulcer ORPHA:1775
Holoprosencephaly-Caudal Dysgenesis Syndrome
Low-set ears, Abnormality of the diencephalon, Radial club hand, Abnormal morphology of the radius ORPHA:2165
Somatostatinoma
Hypercalcemia ORPHA:97283
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia OMIM:604292
Tooth Agenesis, Selective, 4
Photophobia OMIM:150400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Photophobia OMIM:129900
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Fusariosis
Skin ulcer ORPHA:228119
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Photophobia ORPHA:1010
Grfoma
Hypercalcemia ORPHA:97261
Williams Syndrome
Chiari malformation, Wide nasal bridge, Hallux valgus, Spina bifida occulta, Abnormality of the d... ORPHA:904
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wiskott-Aldrich Syndrome
Skin ulcer, Purpura, Petechiae ORPHA:906
Systemic Sclerosis
Osteolytic defects of the phalanges of the hand, Finger swelling, Abnormal phalangeal joint morph... ORPHA:90291
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Delayed speech and language development, Increased body weight ORPHA:264580
Malakoplakia
Skin ulcer ORPHA:556
Waardenburg Syndrome, Type 4C
Anosmia, Sensorineural hearing impairment OMIM:613266
Phacoanaphylactic Uveitis
Visual loss, Blurred vision, Photophobia ORPHA:209959
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Leprosy
Paresthesia, Epistaxis, Dysesthesia, Acral ulceration, Steppage gait, Dissociated sensory loss, I... ORPHA:548
Plague
Skin ulcer, Depression, Anxiety, Unsteady gait, Dry skin ORPHA:707
Granulomatosis With Polyangiitis
Skin ulcer, Purpura, Seizure ORPHA:900
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Delayed speech and language development, Increased body weight ORPHA:79240
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Norrie Disease
Self-injurious behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Anxiety, Irrit... ORPHA:649
Chronic Graft Versus Host Disease
Photophobia, Weight loss ORPHA:99921
Dermatomyositis
Skin ulcer, Dry skin, Erythema ORPHA:221
Tubulointerstitial Nephritis And Uveitis Syndrome
Photophobia, Weight loss, Visual impairment ORPHA:91500
Mowat-Wilson Syndrome
Inability to walk, Short stature, Impaired social interactions, Happy demeanor, Abnormal repetiti... ORPHA:2152
Blau Syndrome
Skin ulcer OMIM:186580
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Short stature, Happy demeanor, Abnormal repetitive mannerisms, Absent speech, ... ORPHA:261537
Blau Syndrome
Visual loss, Photophobia ORPHA:90340
Split Cord Malformation
Chiari malformation, Hydromyelia, Spinal cord tumor, Syringomyelia, Tethered cord, Cervical spina... ORPHA:573278
Atypical Werner Syndrome
Lack of skin elasticity, Osteolytic defects of the phalanges of the hand, Convex nasal ridge, Ski... ORPHA:79474
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Alström Syndrome
Somatic sensory dysfunction, Cognitive impairment, Blindness, Visual field defect, Ataxia, Photop... ORPHA:64
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Abnormal repetitive mannerisms ORPHA:508498
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Short stature, Happy demeanor, Abnormal repetitive mannerisms, Absent speech, ... ORPHA:261552
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Photophobia OMIM:308205
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight ORPHA:2298
Sarcoidosis
Hypercalcemia ORPHA:797
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Hellp Syndrome
Increased body weight ORPHA:244242
Sotos Syndrome
Hypercalcemia ORPHA:821
Leukocyte Adhesion Deficiency
Pyoderma gangrenosum, Seizure ORPHA:2968
Carney Complex
Abdominal obesity, Tall stature, Increased body weight ORPHA:1359

Histopathology

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

There is no histopathology data for Shank3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Shank3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit. Frontiers in cellular neuroscience (March 2015) Shank3tm1c(KOMP)Mbp Shank3tm1a(KOMP)Mbp Shank3tm1d(KOMP)Mbp PMC4365696

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MGI Allele Allele Type Produced
Shank3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Shank3em2(IMPC)H Exon Deletion Mice
Shank3em1(IMPC)H Exon Deletion Mice
Shank3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shank3tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Shank3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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