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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