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Gene: Shank3 MGI:1930016

Gene Summary

Name:

SH3 and multiple ankyrin repeat domains 3

Synonyms:

ProSAP2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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		Shank3^em1(IMPC)H	HOM		Early adult	5.21×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Echo

M-Mode Images

76 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 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.

Human diseases associated with Shank3 (3 diseases)
Human diseases predicted to be associated with Shank3 (1117 diseases)

The table below shows human diseases associated to Shank3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Schizophrenia 15	Hyperactivity	OMIM:613950
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Monosomy 22Q13.3	Hyperactivity, Hearing impairment, Impaired pain sensation, Hair-pulling, Bulbous nose, Wide nasa...	ORPHA:48652

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

Disease	Matching phenotypes	Source
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Major Affective Disorder 1	Mania, Depression	OMIM:125480
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Major Depressive Disorder	Depression	OMIM:608516
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Inflexible adhere...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Inflexible adhere...	OMIM:300425
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Autism	Restrictive behavior, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Inflexible adhere...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Inflexible adhere...	OMIM:607373
Schizophrenia 15	Hyperactivity	OMIM:613950
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic...	OMIM:617171
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness	OMIM:618221
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Abnormal repetiti...	OMIM:608636
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Inflexible adhere...	OMIM:300495
Adamantinoma	Hypercalcemia	ORPHA:55881
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn...	OMIM:614063
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di...	ORPHA:98764
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykines...	ORPHA:306682
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ...	OMIM:616341
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnormal repeti...	OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 64	Impaired social interactions, Aggressive behavior	OMIM:618103
Intellectual Developmental Disorder, X-Linked 72	Seizure, Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Seizure, Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, EEG abnormality, Seizur...	OMIM:619150
Hereditary Geniospasm	Abnormal social behavior, Intention tremor	ORPHA:53372
Developmental And Epileptic Encephalopathy 58	Seizure, Status epilepticus, Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:617830
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Perry Syndrome	Akinesia, Tremor, Frontotemporal dementia, Depression, Bradykinesia, Inappropriate behavior, Disi...	OMIM:168605
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Huntington Disease	Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Abnormality of the sense of smell, Depre...	ORPHA:399
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Hartnup Disorder	Hyperactivity, Short stature, Attention deficit hyperactivity disorder, Episodic ataxia, Emotiona...	OMIM:234500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Ab...	OMIM:617862
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Gait disturba...	OMIM:600795
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Posterior Cortical Atrophy	Ataxia, Confusion, Cerebral visual impairment, Abnormality of vision, Photophobia, Memory impairm...	ORPHA:54247
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Hyperactivity, Irritability	OMIM:616657
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe...	OMIM:617270
Hsd10 Disease	Short attention span, Ataxia, Tremor, Postnatal growth retardation, Choreoathetosis, Gait disturb...	ORPHA:391417
Foxg1 Syndrome	Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth retardation, ...	ORPHA:561854
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebella...	ORPHA:248111
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe...	OMIM:617820
Spinocerebellar Ataxia 21	Ataxia, Postural tremor, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Pr...	OMIM:607454
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Cerebellar calcifications, Chorea, Hand tremor, Depression, Athetosis, Dementia,...	OMIM:615483
Developmental And Epileptic Encephalopathy 107	Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure	OMIM:620033
Autism, Susceptibility To, 3	Restrictive behavior, EEG abnormality, Seizure, Abnormal repetitive mannerisms, Inflexible adhere...	OMIM:608049
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Blephar...	ORPHA:240094
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Abnormal eating ...	ORPHA:101039
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardation	OMIM:620270
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision ...	OMIM:616732
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Seizure, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit h...	OMIM:620065
Pick Disease Of Brain	Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl...	OMIM:172700
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Clonic seizure, Self-injurious behavior, Seizure, Polymicrogyria, Abnormal repetitive mannerisms	OMIM:615282
Intellectual Developmental Disorder, Autosomal Recessive 6	Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions	OMIM:611092
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Idiopathic Intracranial Hypertension	Scintillating scotoma, Visual loss, Diplopia, Obesity, Depression, Photophobia, Abnormal emotion,...	ORPHA:238624
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Hearing imp...	OMIM:613724
Neurodegeneration With Brain Iron Accumulation 5	Akinesia, Aggressive behavior, Tremor, Bradykinesia, Dementia, Dystonia, Mental deterioration	OMIM:300894
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration	OMIM:615924
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, EEG abnormality, Self-injurious behavior, Convulsive status epilepticus, Ste...	OMIM:618760
Corticobasal Syndrome	Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Bradykinesia, Dementia, Gait disturbance...	ORPHA:454887
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Bradykinesia, Blepharospa...	ORPHA:240071
Usher Syndrome, Type Iiib	Photophobia, Visual impairment, Truncal ataxia	OMIM:614504
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Abnormal repetitive mannerisms	OMIM:619470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Hypoesthesia, Chorea, Dysmetria, Bradykinesia, Thalamic calcification, Dysphagi...	OMIM:618317
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Akinesia, Aggressive behavior, Tremor, Dysphagia, Distal sensory impairment,...	OMIM:606693
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Progressive Supranuclear Palsy	Impulsivity, Tremor, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Bra...	ORPHA:683
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so...	ORPHA:300570
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, Inability to walk, T2 hypointen...	ORPHA:1947
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Cerebellar calcifications, Limb ataxia, Bradykinesia, Thalamic calcificatio...	OMIM:618824
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, M...	ORPHA:98818
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Abnormal repetitive ...	OMIM:617393
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o...	OMIM:619317
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment	OMIM:303700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m...	OMIM:618718
Kleine-Levin Syndrome	Confusion, Depression, Photophobia, Irritability, Transient global amnesia, Cognitive impairment,...	ORPHA:33543
Prolonged Electroretinal Response Suppression 2	Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ...	OMIM:620344
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Tritanopia	Photophobia, Tritanomaly, Color vision test abnormality, Reduced visual acuity	ORPHA:88629
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia	ORPHA:599373
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Hereditary Late-Onset Parkinson Disease	Resting tremor, Akinesia, Impulsivity, Dysphagia, Depression, Bradykinesia, Dementia, Agitation, ...	ORPHA:411602
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Corneal Dystrophy, Gelatinous Drop-Like	Photophobia, Reduced visual acuity, Visual impairment, Blurred vision	OMIM:204870
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit...	OMIM:304700
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Achromatopsia 4	Photophobia, Achromatopsia, Visual impairment	OMIM:613856
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior, Irritability, Le...	OMIM:605899
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysp...	ORPHA:247234
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P...	ORPHA:411515
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:608161
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Cone Dystrophy 4	Photophobia, Dyschromatopsia, Reduced visual acuity, Visual impairment	OMIM:613093
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Short stature, Shyness, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	ORPHA:280763
Optic Atrophy 12	Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity	OMIM:618977
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment	ORPHA:98773
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness, Phonophobia	OMIM:609634
Cdkl5-Deficiency Disorder	Impaired pain sensation, Growth delay, Gait disturbance, Inappropriate laughter, Difficulty walki...	ORPHA:505652
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Cone-Rod Synaptic Disorder, Congenital Nonprogressive	Photophobia, Congenital stationary night blindness, Visual impairment, Color vision defect	OMIM:610427
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Short stature, Inability to walk, Limb ataxia, Self-injurious behavior,...	OMIM:617695
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, EEG abnormality, Dementia, Gait disturbance, Disinhibition, Memory impai...	OMIM:618193
Cone-Rod Dystrophy 13	Photophobia, Reduced visual acuity, Visual impairment, Color vision defect	OMIM:608194
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Bilateral single transverse palmar creases, Depressed nasal bridge, Posteri...	ORPHA:444002
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
Optic Atrophy 6	Photophobia, Red-green dyschromatopsia, Visual impairment	OMIM:258500
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Myoclonic seizure, EEG abnormality, Self-injurious behavior, Seizure, Focal impa...	OMIM:614254
Atypical Rett Syndrome	Restrictive behavior, Impaired pain sensation, Tremor, Inability to walk, Tongue thrusting, Gait ...	ORPHA:3095
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Photophobia, Ataxia, Reduced visual acuity	OMIM:618970
Achromatopsia	Myopia, Central scotoma, Monochromacy, Reduced visual acuity, Hypermetropia, Color vision test ab...	ORPHA:49382
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno...	ORPHA:1020
Intellectual Developmental Disorder, X-Linked 108	Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder	OMIM:301024
Achromatopsia 7	Photophobia, Central scotoma, Achromatopsia, Reduced visual acuity	OMIM:616517
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in...	ORPHA:98784
Intellectual Developmental Disorder, X-Linked 104	Tremor, Hyperactivity, Ataxia, Aggressive behavior	OMIM:300983
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Limb ataxia, Dysmetria, Gait a...	OMIM:615157
Cone-Rod Dystrophy 5	Photophobia, Central scotoma, Reduced visual acuity, Color vision defect	OMIM:600977
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize...	ORPHA:168491
Cone-Rod Dystrophy 17	Photophobia, Central scotoma, Visual impairment	OMIM:615163
Morm Syndrome	Photophobia, Progressive night blindness, Truncal obesity, Visual impairment	ORPHA:75858
Cone Dystrophy 3	Photophobia, Reduced visual acuity, Progressive visual loss	OMIM:602093
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Dystonia,...	OMIM:619725
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Akinesia, Depression, Bradykinesia, Paresthesia, Dysphagia, Tr...	ORPHA:97349
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Episodic Ataxia Type 6	Ataxia, Diplopia, Reduced visual acuity, Photophobia, Phonophobia	ORPHA:209967
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Growth delay, Impaired social...	OMIM:619738
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:304020
Young-Onset Parkinson Disease	Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Depression, Frontal lobe deme...	ORPHA:2828
Progressive Cone Dystrophy	Photophobia, Visual impairment, Color vision defect	ORPHA:1871
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Bruxism, Dysphagia, Bradykinesia, Agitation, Dystonia, Abnormal repetitive...	OMIM:617435
Babesiosis	Photophobia, Confusion, Depression	ORPHA:108
Bradyopsia	Photophobia, Visual impairment	ORPHA:75374
Coasy Protein-Associated Neurodegeneration	Difficulty walking, Compulsive behaviors, Oromandibular dystonia, Cognitive impairment, Abnormal ...	ORPHA:397725
Retinal Cone Dystrophy 1	Photophobia, Progressive visual loss, Color vision defect	OMIM:180020
Blue Cone Monochromatism	Blue cone monochromacy, Photophobia, Visual impairment	ORPHA:16
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ...	OMIM:618917
Cone-Rod Dystrophy 24	Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio...	OMIM:620342
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Atypical Juvenile Parkinsonism	Resting tremor, Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Dystonia,...	ORPHA:391411
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres...	OMIM:610042
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis	Photophobia, Visual impairment	OMIM:204110
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure	OMIM:613886
Neuroferritinopathy	Abnormal dentate nucleus morphology, Resting tremor, Dystonia, Writer's cramp, T2 hypointense tha...	ORPHA:157846
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Albinism, Oculocutaneous, Type Vi	Photophobia, Reduced visual acuity, Visual impairment	OMIM:113750
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment, Dystonia	ORPHA:459033
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Prominent nose, Partial absence of cerebella...	ORPHA:137831
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Dystonia	OMIM:612716
Cone Rod Dystrophy	Photophobia, Nyctalopia, Visual impairment, Color vision defect	ORPHA:1872
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Cone-Rod Dystrophy And Hearing Loss 2	Photophobia, Reduced visual acuity	OMIM:618358
Leber Congenital Amaurosis 16	Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment	OMIM:614186
Spinocerebellar Ataxia Type 29	Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho...	ORPHA:208513
Christianson Syndrome	Death in early adulthood, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystoni...	ORPHA:85278
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Cerebellar atrophy, Depression, Dementia, Focal T2 hyperintense thala...	ORPHA:79264
Choroidal Dystrophy, Central Areolar 2	Photophobia	OMIM:613105
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Short stature, Birth length less than 3rd percentile, Gait disturbance, In...	OMIM:614104
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity	OMIM:616079
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe...	OMIM:604360
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Dysplastic corpus callosum, Sensorineural hearing ...	ORPHA:557003
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia	ORPHA:382
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ...	ORPHA:228360
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Leber Congenital Amaurosis With Early-Onset Deafness	Photophobia, High hypermetropia, Reduced visual acuity	OMIM:617879
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Photophobia, Visual impairment	OMIM:300650
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions	ORPHA:397933
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Bradykinesia, ...	OMIM:234200
Red Skin Pigment Anomaly Of New Guinea	Photophobia	OMIM:266350
Albinism, Oculocutaneous, Type Ib	Photophobia, Visual impairment	OMIM:606952
Xq28 (MECP2) duplication	Inability to walk, Depression, Gait ataxia, Death in childhood, Dysphagia, Abnormal repetitive ma...	DECIPHER:45
Cach Syndrome	Cerebellar atrophy, Progressive neurologic deterioration, T2 hypointense thalamus, Limb ataxia, D...	ORPHA:135
Macular Dystrophy, Patterned, 1	Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity	OMIM:169150
Mucolipidosis Iv	Photophobia, Visual impairment, Progressive neurologic deterioration	OMIM:252650
Retinitis Pigmentosa 17	Photophobia, Nyctalopia, Color vision defect	OMIM:600852
Postorgasmic Illness Syndrome	Photophobia, Irritability, Blurred vision, Depression	ORPHA:279947
Cone-Rod Dystrophy 11	Photophobia, Slow decrease in visual acuity	OMIM:610381
Episodic Ataxia, Type 6	Diplopia, Photophobia, Truncal ataxia, Episodic ataxia, Phonophobia	OMIM:612656
Retinal Cone Dystrophy 3B	Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:610356
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ...	OMIM:613660
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Cerebellar edema, Confusion, Multifocal epileptiform discharges, EEG ...	ORPHA:363558
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Cone-Rod Dystrophy 22	Photophobia, Reduced visual acuity	OMIM:619531
Corneal Dystrophy, Fleck	Photophobia	OMIM:121850
Cone-Rod Dystrophy 21	Photophobia, Nyctalopia, Reduced visual acuity	OMIM:616502
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Confusion, Emotional lability, Agitation, Cognitive impairment, Lethargy, Abnormal repeti...	ORPHA:927
Bardet-Biedl Syndrome 5	Obesity, Cognitive impairment	OMIM:615983
Achromatopsia 3	Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe...	OMIM:262300
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha...	ORPHA:208447
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity, Dystonia	OMIM:616756
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Ret...	OMIM:609454
Infantile Krabbe Disease	Psychomotor deterioration, Blindness, Progressive neurologic deterioration, Cachexia, Visual loss...	ORPHA:206436
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Obsessive-compulsive trait, Gait disturbance, Impaired ...	ORPHA:544254
Oligocone Trichromacy	Photophobia	ORPHA:75378
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Short stature, Polyphagia, Growth delay, Self-injurious behavior, Abnormal...	ORPHA:228402
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Mild postnatal growth retardation, Abnormal temper tantrums, Abnormal soci...	ORPHA:530983
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Lethargy	ORPHA:276608
Albinism, Oculocutaneous, Type V	Photophobia	OMIM:615312
Retinal Cone Dystrophy 4	Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment	OMIM:610478
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic...	OMIM:619428
Leber Congenital Amaurosis 2	Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking	OMIM:204100
Rasmussen Subacute Encephalitis	Hyperactivity, Hemidystonia, Inability to walk, Memory impairment, Irritability, Attention defici...	ORPHA:1929
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Bradykinesia, Dystonia, Freezing of gait	OMIM:619911
Leber Congenital Amaurosis 14	Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity	OMIM:613341
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Attention deficit hyperactivity d...	ORPHA:1942
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Atonic seizure, Infantile spasms, Multifocal epileptiform discharges, Generalized non-motor (abse...	ORPHA:411986
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Buerger Disease	Skin ulcer	ORPHA:36258
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Cone-Rod Dystrophy, X-Linked, 3	Myopia, Central scotoma, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:300476
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Simplified gyral pattern, Myoclonic seizure, Hyp...	OMIM:619877
Supranuclear Palsy, Progressive, 1	Axial dystonia, Akinesia, Tremor, Dysphagia, Bradykinesia, Irritability, Falls, Gait imbalance, R...	OMIM:601104
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Short stature, Inability to walk, Chorea, Irr...	OMIM:617864
Glaucoma 3, Primary Congenital, D	Photophobia	OMIM:613086
Epithelial Recurrent Erosion Dystrophy	Photophobia, Visual impairment	OMIM:122400
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Photophobia, Gait ataxia	ORPHA:438134
Cone-Rod Dystrophy 16	Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss	OMIM:614500
Macular Dystrophy, Corneal	Photophobia	OMIM:217800
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Sensorineural hearing impairment, Anosmia, Ectrodactyly, Hyposmia, Clinodactyly,...	OMIM:147950
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Dy...	ORPHA:79139
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Confusion, Aggressive behavior, ...	ORPHA:83597
Hartnup Disease	Abnormality of vision, Emotional lability, Photophobia, Ataxia	ORPHA:2116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my...	OMIM:300029
Leber Congenital Amaurosis 1	Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking	OMIM:204000
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Akinesia	OMIM:614203
Leber Congenital Amaurosis 6	Photophobia, High hypermetropia, Severely reduced visual acuity	OMIM:613826
Microphthalmia, Isolated 5	Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity	OMIM:611040
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Short stature, Aggressive behavior, Tremor, Attention defici...	OMIM:618342
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure	OMIM:619690
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ...	OMIM:620292
Superficial Siderosis	Cerebellar atrophy, Ataxia, Partial anosmia, Impaired pain sensation, Impaired temperature sensat...	ORPHA:247245
Retinitis Pigmentosa 79	Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617460
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Attention deficit hyperactivity dis...	ORPHA:467166
Retinitis Pigmentosa 32	Photophobia, Nyctalopia, Reduced visual acuity	OMIM:609913
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit...	ORPHA:589905
Intellectual Developmental Disorder, Autosomal Recessive 46	Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation	OMIM:616116
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai...	ORPHA:35069
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, D...	OMIM:610217
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Oculopharyngodistal Myopathy 3	Photophobia, Ataxia	OMIM:619473
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot...	OMIM:608643
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens...	ORPHA:70595
Corneal Dystrophy, Meesmann, 1	Photophobia, Reduced visual acuity	OMIM:122100
Mohr-Tranebjaerg Syndrome	Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Dementia, Attention defici...	ORPHA:52368
Spinocerebellar Ataxia Type 7	Somatic sensory dysfunction, Blindness, Ataxia, Visual loss, Reduced visual acuity, Dysmetria, Ph...	ORPHA:94147
Oculocutaneous Albinism, Type Viii	Photophobia, Reduced visual acuity	OMIM:619165
Leber Congenital Amaurosis 7	Photophobia, Visual impairment	OMIM:613829
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Fusion of the left...	OMIM:617542
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Retinal Cone Dystrophy 3A	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Short stature, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injur...	OMIM:620023
Retinitis Pigmentosa	Blindness, Obesity, Photophobia, Progressive night blindness, Visual impairment	ORPHA:791
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h...	ORPHA:64280
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms	OMIM:619092
Retinitis Pigmentosa 51	Nyctalopia, Reduced visual acuity, Obesity, High myopia, Photophobia, Visual impairment	OMIM:613464
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self...	ORPHA:449291
Irvan Syndrome	Photophobia, Blurred vision, Reduced visual acuity, Vitreous floaters	ORPHA:209943
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Impaired pain sensation, Abnormal spinal cord morpholo...	ORPHA:139578
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria...	OMIM:620242
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Tremor, Progressive psychomotor deterioration, Gait ataxia, Cognitive impa...	ORPHA:363400
Aceruloplasminemia	Torticollis, Ataxia, Akinesia, Tremor, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Cognitive...	ORPHA:48818
Keratoendotheliitis Fugax Hereditaria	Photophobia, Blurred vision	OMIM:148200
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to...	OMIM:617854
Choreoacanthocytosis	Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib...	ORPHA:2388
Boucher-Neuhauser Syndrome	Photophobia, Ataxia, Progressive visual loss, Gait ataxia	OMIM:215470
Lyme Disease	Photophobia, Memory impairment, Paresthesia, Amaurosis fugax	ORPHA:91546
Birdshot Chorioretinopathy	Arcuate scotoma, Blind-spot enlargment, Vitreous floaters, Visual loss, Photophobia, Blurred vision	ORPHA:179
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Depression, Progressive cerebellar ata...	ORPHA:485350
Thiel-Behnke Corneal Dystrophy	Photophobia, Slow decrease in visual acuity	ORPHA:98960
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration	OMIM:616840
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Corneal Dystrophy, Meesmann, 2	Photophobia	OMIM:618767
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Postaxial hand polydactyly, Abnormality of the sen...	ORPHA:2189
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili...	ORPHA:309271
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Sensorineural hearing impairment, Anosmia, Aplasia/Hypoplasia of t...	ORPHA:3157
Beta-Thalassemia	Irritability, Pallor, Skin ulcer	ORPHA:848
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Oculocutaneous Albinism Type 6	Photophobia, Reduced visual acuity	ORPHA:370097
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Obesity, Progressive lang...	ORPHA:163681
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Intrauterine growth retardation, Crouch gait, Gait ataxia	OMIM:620145
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Abnormal nasal morphology, 2-3 t...	ORPHA:404440
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Short stature, Repetitive compulsive behavior, Compulsive behaviors, Attention def...	ORPHA:352490
Leber Congenital Amaurosis 9	Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:608553
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hyposmia, Y-shaped...	OMIM:615996
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic...	OMIM:617600
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Short stature, Aggressive behavior, Gait disturbance, Attention deficit hyperac...	OMIM:300352
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Short stature, Diminished ability to concentrate, Attention deficit hyperactivity disorde...	OMIM:615656
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal cerebellum morph...	ORPHA:68
Flynn-Aird Syndrome	Ataxia, Impaired pain sensation, Skin ulcer, EEG abnormality, Dementia, Progressive sensorineural...	ORPHA:2047
Hydroa Vacciniforme	Photophobia, Reduced visual acuity	ORPHA:330058
48,Xxyy Syndrome	Ataxia, Tremor, Depression, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms	ORPHA:10
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Migraine With Or Without Aura, Susceptibility To, 6	Photophobia, Phonophobia	OMIM:607516
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Growth delay, Attention deficit hyperactivity disor...	OMIM:619121
Meningococcal Meningitis	Photophobia, Irritability, Paresthesia	ORPHA:33475
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Hearing impairment, Impaired temperature sensation, Inability to walk, Penetr...	ORPHA:36386
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
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
Migraine Without Aura, Susceptibility To, 4	Photophobia, Phonophobia	OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5	Photophobia, Phonophobia	OMIM:607508
Tay-Sachs Disease	Cerebellar atrophy, Short attention span, Exaggerated startle response, Dystonia, Tremor, Inabili...	ORPHA:845
Neovascular Glaucoma	Photophobia, Visual loss, Visual acuity test abnormality	ORPHA:94058
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia, Hearing impairment	OMIM:615266
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive...	OMIM:300986
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E...	ORPHA:309263
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia, Hearing impairment	OMIM:615271
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul...	OMIM:618124
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Impaired social interactions, Aggressive behavior	ORPHA:329249
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Photophobia	ORPHA:139450
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume, Dystonia	OMIM:618646
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment, Dystonia	OMIM:616267
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Athetosis, Irritability, Impaired social interactions, Dystoni...	OMIM:613454
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Abnor...	OMIM:618004
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Short stature, Aggressive behavior, Tremor, Gait ataxia, Delayed puberty, Emotiona...	OMIM:300354
Dracunculiasis	Skin ulcer	ORPHA:231
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Optic Atrophy 11	Hyperactivity, Ataxia, Short stature, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rock...	OMIM:617302
Chiari Malformation Type I	Diplopia, Hyperacusis, Photophobia, Gait ataxia, Paresthesia	OMIM:118420
Sjögren-Larsson Syndrome	Photophobia, Myopia	ORPHA:816
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Leigh Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Progressive neurologic deterioration, Chorea, Sensorineural...	ORPHA:506
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Gait di...	ORPHA:43
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Dysphagia, Hypsarrhythmia	OMIM:613668
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal thalamic MRI signal intensity, Dysphagia	ORPHA:363717
Tick-Borne Encephalitis	Somatic sensory dysfunction, Depression, Photophobia, Diminished ability to concentrate, Cognitiv...	ORPHA:297
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Indifference To Pain, Congenital, Autosomal Recessive	Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Anosmia, Painless fr...	OMIM:243000
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Akinesia, Opisthotonus, Dysphagia, Neonatal death, Intraute...	OMIM:608013
Classic Mycosis Fungoides	Erythema, Dry skin, Skin ulcer	ORPHA:2584
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	OMIM:617807
Corneal Dystrophy, Congenital Stromal	Photophobia, Progressive visual loss	OMIM:610048
Meningioma	Enlarged pituitary gland, Ataxia, Hypothalamic hypothyroidism, Reduced circulating prolactin conc...	ORPHA:2495
Rett Syndrome	Dystonia, Short stature, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Motor deterioration,...	OMIM:312750
Free Sialic Acid Storage Disease	Ataxia, Skin ulcer, Athetosis, Seizure, Gait disturbance	ORPHA:834
Timothy Syndrome	Hypocalcemia	OMIM:601005
Obesity Due To Sim1 Deficiency	Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp...	ORPHA:369873
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Mild neurosensory hearing impairment, Anosmia, Distal ...	OMIM:601152
Congenital Tufting Enteropathy	Photophobia, Irritability, Failure to thrive, Weight loss	ORPHA:92050
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, EEG abnormality, Seizure, Onychotillomania, Abnormal r...	OMIM:182290
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Albinism, Oculocutaneous, Type Vii	Photophobia, High hypermetropia, Reduced visual acuity	OMIM:615179
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Obesity, Choreoathetosis, Bradykinesia, S...	OMIM:300055
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Short stature, Depression, Self-injurious behavior, Cognitive impairment	OMIM:601853
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Ataxia	OMIM:616881
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Progressive psychomotor deterioration, Obesity, Photophobia, Progressive visu...	ORPHA:251004
Insulinoma	Tremor, Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensati...	ORPHA:97279
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Hijazi-Reis Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Growth delay, I...	OMIM:103050
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity	ORPHA:397612
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Aggressive behavior, Growth delay, Difficulty walking, Abnor...	OMIM:123450
Sjogren-Larsson Syndrome	Photophobia, Reduced visual acuity, Color vision defect	OMIM:270200
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebellar hypoplasia, Decreased thalamic volume, Rocker bottom foot, Low-set ears	OMIM:619072
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypsarrhythmia, Seizure, Myoclo...	OMIM:300672
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Acrogeria	Excessive wrinkled skin, Skin ulcer	ORPHA:2500
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ...	ORPHA:370959
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic seizure...	OMIM:300912
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal thalamic MRI signal intensity, Imp...	ORPHA:254930
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Akinesia, Death in childhood	OMIM:619334
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr...	ORPHA:98795
Alopecia-Intellectual Disability Syndrome	Photophobia	ORPHA:2850
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Holoprosencephaly	Chorea, Depressed nasal ridge, Absent nares, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker m...	ORPHA:2162
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social...	ORPHA:309256
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Aggressive behavior, Tremor, Abnormal eating behavior, De...	ORPHA:247585
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Proximal 16P11.2 Microdeletion Syndrome	Dystonia, Choreoathetosis, Impaired social interactions, Attention deficit hyperactivity disorder...	ORPHA:261197
Gorlin Syndrome	Arachnodactyly, Palmar pits, Wide nasal bridge, Abnormality of the sense of smell, Brachydactyly	ORPHA:377
Giant Axonal Neuropathy 1, Autosomal Recessive	Photophobia, Distal sensory impairment	OMIM:256850
Congenital Myopathy 9A	Death in infancy, Short stature, Akinesia	OMIM:618822
Acrodermatitis Enteropathica	Weight loss, Photophobia, Emotional lability, Failure to thrive, Visual impairment	ORPHA:37
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Seizure, Abnormal repetitive mannerisms	OMIM:610883
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myopia, Visual loss, Nyctalopia, Photophobia, Failure to thrive	ORPHA:5
Jalili Syndrome	Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment	OMIM:217080
Rett Syndrome	Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Dystonia, Abnor...	ORPHA:778
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Galloway-Mowat Syndrome 6	Short stature, Growth delay, Intrauterine growth retardation, Abnormal repetitive mannerisms, Par...	OMIM:618347
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Gait imbalance, Attention deficit hyperactivity...	OMIM:619312
Niemann-Pick Disease, Type C2	Death in infancy, Dystonia, Ataxia, Death in childhood, Dementia, Dysphagia, Abnormal repetitive ...	OMIM:607625
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Anterior pituitary hypoplasia, Abnormality of the sense of smell, Progressive hearing imp...	OMIM:616113
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Action tremor	ORPHA:93952
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity, Autoamputation of digits, Impaired pain sensation, Dys...	OMIM:613640
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Broad-based gait, Single tr...	ORPHA:93932
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Diplopia, Gait ataxia, Photophobia, Progressive cerebel...	ORPHA:268882
Ritscher-Schinzel Syndrome 4	Ataxia, Short stature, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal r...	OMIM:619435
Refsum Disease	Short metacarpal, Ataxia, Sensorineural hearing impairment, Anosmia, Hammertoe, Dry skin	ORPHA:773
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Cerebellar vermis hypoplasia, Partial agenesis of the co...	OMIM:619775
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Focal-onset seizure, Seizure, Interictal epileptiform activity, Status epilepticus, Dysphagia, Ab...	OMIM:617802
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir...	ORPHA:447997
Reversible Cerebral Vasoconstriction Syndrome	Photophobia, Confusion, Phonophobia, Blurred vision	ORPHA:284388
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Niemann-Pick Disease Type C	Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Trem...	ORPHA:646
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Fusion of the cerebellar hemispheres, Agene...	ORPHA:59315
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Hyposmia, Dementia	OMIM:607060
Peroxisome Biogenesis Disorder 9B	Anosmia, Sensorineural hearing impairment, Ataxia, Total anosmia	OMIM:614879
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Short stature, Aggressive behavior, Self-injurious behavior, S...	OMIM:600430
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma...	OMIM:618430
Xeroderma Pigmentosum, Complementation Group D	Mental deterioration, Photophobia, Ataxia, Choreoathetosis	OMIM:278730
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cere...	ORPHA:314647
X-Linked Intellectual Disability, Cantagrel Type	Seizure, Abnormal repetitive mannerisms	ORPHA:85277
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod...	OMIM:617865
Adult Polyglucosan Body Disease	Ataxia, Skin ulcer, Distal sensory impairment, Dementia, Gait disturbance	ORPHA:206583
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Short stature, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Infantile spasms, Myoclonic seizure, Dysphagia, Pachygyria, Abnormal repetitive mannerisms	ORPHA:572013
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur...	ORPHA:139396
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Short stature, Chorea, Athetosis, Dystonia, Self-mutilation	ORPHA:52503
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Necrobiosis Lipoidica	Erythema, Skin ulcer	ORPHA:542592
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Paresthesia, Cognitive impairment, Progressive sensorineural hearing impairment...	ORPHA:2959
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Amaurosis-Hypertrichosis Syndrome	Photophobia, High hypermetropia, Visual impairment	ORPHA:1021
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Constriction of peripheral visual field, Ataxia, Reduced visual acuity, Dysmetria, Photophobia	OMIM:618527
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Hearing impairment, Anosmia, Short nose, Short nasal septum, Short distal...	OMIM:302950
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Sensorineural hearing impairment, Anosmia, Small pituitary gland	OMIM:612702
Hyperostosis Cranialis Interna	Sensorineural hearing impairment, Anosmia, Chiari type I malformation, Hyposmia, Tinnitus	OMIM:144755
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Intellectual Developmental Disorder, Autosomal Dominant 38	Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal r...	OMIM:616393
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Short stature, Aggressive behavior, Irritability, Abnormal repetitive mannerisms	ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil...	OMIM:300486
Refsum Disease, Classic	Short fourth metatarsal, Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, A...	OMIM:266500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Prom...	OMIM:309520
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Chilblain Lupus	Skin ulcer	ORPHA:90280
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Mild myopia, Photophobia, Severely reduced visual acuity...	OMIM:300424
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Sandhoff Disease	Exaggerated startle response, Ataxia, Impaired temperature sensation, Progressive psychomotor det...	OMIM:268800
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Clinodactyly, Anosmia, Bifid nose	OMIM:614838
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, A...	ORPHA:263455
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Overfriendliness, Impaired pain sensation, Abnormal repetitive mannerisms, Gait ataxia	OMIM:616579
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t...	ORPHA:72
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer	ORPHA:312
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Tremor, Inability to walk, Death in adolescence, Agitation, Dysphag...	OMIM:619229
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ...	ORPHA:313892
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
4Q21 Microdeletion Syndrome	Tremor, Growth delay, Self-injurious behavior, Intrauterine growth retardation, Abnormal repetiti...	ORPHA:238750
Retinal Dystrophy With Or Without Macular Staphyloma	Central scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Truncal obesity	OMIM:617547
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebellar vermis hypoplasia, Exaggerated startle response, Prominent nose, Dyspla...	OMIM:617281
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Jalili Syndrome	Photophobia, Visual impairment, Color vision defect	ORPHA:1873
Mucolipidosis Type Iv	Photophobia, Ataxia	ORPHA:578
Xeroderma Pigmentosum Variant	Photophobia	ORPHA:90342
Johnson Neuroectodermal Syndrome	Choanal atresia, Preaxial hand polydactyly, Bulbous nose, Anosmia, Protruding ear, Hand polydacty...	ORPHA:2316
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n...	ORPHA:177907
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Hypsar...	ORPHA:457351
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Dementia, Gait disturbance,...	ORPHA:2822
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Perrault Syndrome 4	Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia	OMIM:615300
Smith-Magenis Syndrome	Short stature, Impaired pain sensation, Self-injurious behavior, Gait disturbance, Attention defi...	ORPHA:819
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased body weight	OMIM:614450
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Oculocutaneous Albinism Type 1	Photophobia, Reduced visual acuity, Amblyopia	ORPHA:352731
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia, Finger joint hypermobility, Hearing impairment	OMIM:244200
Reticular Dysgenesis	Skin ulcer	ORPHA:33355
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Cataract 2, Multiple Types	Photophobia, Visual impairment, Amblyopia	OMIM:604307
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Hypophosphatasia	Hypercalcemia	ORPHA:436
48,Xxxy Syndrome	Coxa valga, Elbow dislocation, Tremor, Depressed nasal ridge, Irritability, Radioulnar synostosis...	ORPHA:96263
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Hearing impairment	OMIM:619057
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Retinitis Pigmentosa 72	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia	OMIM:616469
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Head-banging, Stereotypical bod...	ORPHA:86309
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Ataxia, Short stature, Abnormal eating behavior, Chorea, Abn...	ORPHA:209905
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Limb tremor, Progressive gait ataxia, Paroxysmal bursts ...	OMIM:105830
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Cockayne Syndrome Type 2	Photophobia, Ataxia, Visual impairment	ORPHA:90322
Familial Drusen	Photophobia, Visual loss, Metamorphopsia, Paracentral scotoma	ORPHA:75376
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, H...	ORPHA:570
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Tremor, Sensorineural hearing imp...	ORPHA:478
Takayasu Arteritis	Seizure, Skin ulcer, Anorexia	ORPHA:3287
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Corneal Dystrophy, Reis-Bucklers Type	Photophobia, Reduced visual acuity	OMIM:608470
Pituitary Apoplexy	Bitemporal hemianopia, Confusion, Abnormal static automated perimetry test, Diplopia, Reduced vis...	ORPHA:95613
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Ollier Disease	Skin ulcer	ORPHA:296
Behçet Disease	Blindness, Ataxia, Confusion, Weight loss, Photophobia, Irritability, Paresthesia, Memory impairment	ORPHA:117
Axial Spondylometaphyseal Dysplasia	Photophobia, Dyschromatopsia, Reduced visual acuity, Amblyopia	ORPHA:168549
Insulin-Like Growth Factor I Deficiency	Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Intrauterine gr...	OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 71	Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia, Small pituitary gland, Genu valgum	OMIM:614880
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Split hand, Hypopla...	ORPHA:958
5Q14.3 Microdeletion Syndrome	Seizure, Abnormal repetitive mannerisms	ORPHA:228384
Nmda Receptor Encephalitis	Short attention span, Oculogyric crisis, Confusion, Hypersexuality, Chorea, Opisthotonus, Choreoa...	ORPHA:217253
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia, Polyphagia	OMIM:617885
Alazami Syndrome	Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical...	ORPHA:319671
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia, Absent thumb	OMIM:274190
Cystinosis	Photophobia, Failure to thrive, Visual impairment	ORPHA:213
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of ...	ORPHA:284160
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Trigeminal Neuralgia	Somatic sensory dysfunction, Paresthesia, Allodynia, Depression	ORPHA:221091
Paroxysmal Hemicrania	Photophobia, Phonophobia	ORPHA:157835
White-Sutton Syndrome	Waddling gait, Hyperactivity, Short stature, Aggressive behavior, Self-injurious behavior, Irrita...	OMIM:616364
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms	ORPHA:3306
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal nostril morphology,...	ORPHA:1295
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Impaired distal proprioception, Sensorineural hearing ...	OMIM:162400
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform...	ORPHA:363958
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, S...	OMIM:616488
Aural Atresia, Congenital	Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Photophobia, High myopia	OMIM:614457
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hyposmia, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia	OMIM:308700
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition...	OMIM:607485
Chromosome 16Q12 Duplication Syndrome	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly	OMIM:619649
Retinal Arteries, Tortuosity Of	Photophobia, Visual loss	OMIM:180000
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal thalamic MRI signal intensity, ...	ORPHA:485421
Encephalitis Lethargica	Mental deterioration, Photophobia, Diplopia	ORPHA:83600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Sensorineural hearing impairment, Agitation, Ataxia, Focal T2 hyperintense thalamic lesion	OMIM:619046
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Photophobia, Myopia, Failure to thrive	OMIM:242150
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Cutaneous finger syndactyly, Anosmia, Wide nasal bridge	OMIM:210745
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Hypoplasia ...	OMIM:615574
Miller Fisher Syndrome	Ataxia, Diplopia, Photophobia, Paresthesia, Blurred vision	ORPHA:98919
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Tyrosinemia Type 2	Photophobia, Visual loss, Ataxia	ORPHA:28378
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Ataxia	OMIM:308750
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Retinitis Pigmentosa 25	Photophobia, Nyctalopia, Constriction of peripheral visual field	OMIM:602772
Laurence-Moon Syndrome	Ataxia, Obesity	OMIM:245800
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia, Hearing impairment	OMIM:615267
Leishmaniasis	Skin ulcer, Pallor, Anorexia	ORPHA:507
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
Wilson Disease	Limb dystonia, Dystonia, Decreased nerve conduction velocity, Hypoesthesia, Tremor, Hand tremor, ...	OMIM:277900
Campomelic Dysplasia	Bowing of the long bones, Depressed nasal bridge, Fibular hypoplasia, Tibial bowing, Femoral bowi...	ORPHA:140
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer	ORPHA:48104
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Dementia, Dystonia	OMIM:272750
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Dyskeratosis, Hereditary Benign Intraepithelial	Photophobia, Visual impairment	OMIM:127600
Cone-Rod Dystrophy 10	Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss	OMIM:610283
Gelatinous Drop-Like Corneal Dystrophy	Photophobia, Reduced visual acuity, Blurred vision	ORPHA:98957
African Trypanosomiasis	Somatic sensory dysfunction, Miscarriage, Akinesia, Aggressive behavior, Tremor, Impaired proprio...	ORPHA:3385
Polyarteritis Nodosa	Erythema, Skin ulcer	ORPHA:767
Panhypophysitis	Reduced circulating prolactin concentration, Sensorineural hearing impairment, Adrenocorticotropi...	ORPHA:95513
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:610628
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav...	OMIM:614963
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Sensorineural hearing impairment, Anosmia	OMIM:612370
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms	OMIM:617796
Arthrogryposis Multiplex Congenita 5	Death in infancy, Akinesia, Hand tremor, Growth delay, Dystonia, Intrauterine growth retardation	OMIM:618947
Intellectual Developmental Disorder, Autosomal Dominant 48	Seizure, Hyperactivity, Polymicrogyria, Abnormal repetitive mannerisms	OMIM:617751
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Growth delay, Akinesia, Death in childhood	OMIM:619147
Flotch Syndrome	Photophobia	ORPHA:2045
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor, Restrictive behavio...	OMIM:619475
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Hyperlysinemia	Short attention span, Hyperactivity, Short stature, Tremor, Dysmetria, Opisthotonus, Tip-toe gait...	ORPHA:2203
Congenital Myopathy 12	Death in infancy, Akinesia	OMIM:612540
Isolated Agammaglobulinemia	Skin ulcer	ORPHA:229717
22Q11.2 Duplication Syndrome	Growth delay, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsiv...	ORPHA:1727
Bilateral Acute Depigmentation Of The Iris	Photophobia	ORPHA:69736
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth...	OMIM:147250
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Pachygyria, Focal-onset seizure,...	OMIM:619777
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Photophobia, Visual loss, Failure to thrive in infancy, Visual impairment	OMIM:301220
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Seizure, Abnormal repetitive mannerisms	ORPHA:529965
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ...	OMIM:619680
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity, Cognitive impairment	ORPHA:444013
Morgagni-Stewart-Morel Syndrome	Memory impairment, Obesity, Cognitive impairment, Action tremor	ORPHA:77296
Cone-Rod Dystrophy 8	Photophobia, Blindness, Peripheral visual field loss, Nyctalopia	OMIM:605549
Leber Congenital Amaurosis 15	Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:613843
Hereditary Mucoepithelial Dysplasia	Photophobia	ORPHA:1839
Autoinflammation With Arthritis And Dyskeratosis	Photophobia, Failure to thrive	OMIM:617388
Ocular Albinism With Late-Onset Sensorineural Deafness	Photophobia, Visual impairment	ORPHA:1000
Lichen Planopilaris	Skin ulcer	ORPHA:525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia,...	OMIM:620330
Stiff-Person Syndrome	Depression, Exaggerated startle response, Opisthotonus	OMIM:184850
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Wide nasal bridge, Depressed nasal tip, C...	OMIM:619306
Alstrom Syndrome	Blindness, Constriction of peripheral visual field, Visual loss, Photophobia, Truncal obesity	OMIM:203800
Cockayne Syndrome Type 1	Photophobia, Failure to thrive, Ataxia, Visual impairment	ORPHA:90321
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Akinesia	ORPHA:994
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Short stature, Rhizomelia, Aggres...	ORPHA:319182
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu...	ORPHA:99956
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Decreased nerve conduction velocity, Se...	OMIM:609136
Oculocutaneous Albinism Type 5	Photophobia, Reduced visual acuity	ORPHA:370091
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Albinism, Ocular, Type I	Photophobia, Reduced visual acuity	OMIM:300500
Cone-Rod Dystrophy 6	Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre...	OMIM:601777
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Akinesia	OMIM:253290
Coffin-Siris Syndrome 7	Hyperactivity, Short stature, Severe temper tantrums, Compulsive behaviors, Abnormal repetitive m...	OMIM:618027
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Photophobia	OMIM:618535
Familial Multiple Nevi Flammei	Seizure, Skin ulcer	ORPHA:624
Vernal Keratoconjunctivitis	Photophobia	ORPHA:70476
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ataxia, Confusion, Dysesthesia, Impaired proprioceptio...	ORPHA:79138
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Epithelial Recurrent Erosion Dystrophy	Photophobia, Progressive visual loss, Blurred vision	ORPHA:293381
Severe Early-Childhood-Onset Retinal Dystrophy	Myopia, Nyctalopia, Delayed early-childhood social milestone development, Blurred vision, Reduced...	ORPHA:364055
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Growth delay, Dystonia, Intrauterine growth retardation, ...	ORPHA:66634
Rauch-Steindl Syndrome	Hyperactivity, Short stature, Miscarriage, Aggressive behavior, Postnatal growth retardation, Int...	OMIM:619695
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Impaired temperature sensation, Increased body weight, Abdominal obesity, Abnormal t...	ORPHA:398069
Sunct Syndrome	Photophobia	ORPHA:57145
Papa Syndrome	Skin ulcer	ORPHA:69126
Lattice Corneal Dystrophy Type I	Photophobia, Visual loss, High myopia, Slow decrease in visual acuity	ORPHA:98964
Idiopathic Panuveitis	Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ...	ORPHA:280921
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Obesity, Cognitive impairment	OMIM:614947
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum	OMIM:604416
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent t...	OMIM:619103
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Adenohypophysitis	Reduced circulating prolactin concentration, Sensorineural hearing impairment, Adrenocorticotropi...	ORPHA:95512
Oculocerebral Hypopigmentation Syndrome, Preus Type	Photophobia, Ataxia	ORPHA:2720
Dihydropyrimidine Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Micromelia, Inability to walk, Multifocal epileptiform ...	ORPHA:1675
Chédiak-Higashi Syndrome	Somatic sensory dysfunction, Ataxia, Reduced visual acuity, Photophobia, Dementia, Cognitive impa...	ORPHA:167
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Calciphylaxis	Skin ulcer	ORPHA:280062
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Gait disturbance, Abnormal tempe...	ORPHA:500055
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia	OMIM:618841
Musk, Inability To Smell	Anosmia	OMIM:254150
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Boutonneuse Fever	Photophobia	ORPHA:83313
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Photophobia	OMIM:612843
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Elevated circulating follicle stimulating hormone level, Abnormality of the sense of smell	OMIM:228300
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Abnormal repetit...	OMIM:212066
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
X-Linked Recessive Ocular Albinism	Photophobia, Myopia, Visual impairment	ORPHA:54
Pilarowski-Bjornsson Syndrome	Seizure, Abnormal repetitive mannerisms	OMIM:617682
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Photophobia	OMIM:308800
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum	OMIM:616576
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
Xeroderma Pigmentosum	Photophobia, Failure to thrive, Ataxia, Cognitive impairment	ORPHA:910
Ichthyosis, Congenital, Autosomal Recessive 11	Photophobia	OMIM:602400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Intrauterine growth retardation, Akinesia	OMIM:225790
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Seizure, Polymicrogyria, Abnormal repetitive mannerisms	ORPHA:500159
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Lujo Hemorrhagic Fever	Mental deterioration, Photophobia, Confusion	ORPHA:319213
Charge Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:138
Cryoglobulinemic Vasculitis	Petechiae, Skin ulcer, Purpura	ORPHA:91138
Argininemia	Hyperactivity, Anorexia, Postnatal growth retardation, Irritability, Spastic gait	OMIM:207800
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Growth delay, Dysphagia, Abnormal repetitive mannerisms	ORPHA:496641
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Ataxia-Telangiectasia-Like Disorder 2	Photophobia, Ataxia	OMIM:615919
Infantile Nephropathic Cystinosis	Photophobia, Failure to thrive, Cognitive impairment	ORPHA:411629
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Trichothiodystrophy	Reduced social reciprocity, Photophobia, Myopia, Gait ataxia	ORPHA:33364
Autoimmune Polyendocrinopathy Type 1	Photophobia, Visual impairment	ORPHA:3453
Clouston Syndrome	Photophobia	OMIM:129500
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Erythema, Absent hand, Skin...	ORPHA:464
Giant Cell Arteritis	Ataxia, Epistaxis, Anorexia, Recurrent pharyngitis, Skin ulcer, Depression, Paresthesia, Conducti...	ORPHA:397
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Skin ulcer, Abnormal diaphysis morphology, Abnormalit...	ORPHA:1657
Cone-Rod Dystrophy And Hearing Loss 1	Photophobia, Dyschromatopsia, Visual impairment, Hemeralopia	OMIM:617236
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Seizure, Erythema, Skin ulcer	ORPHA:659
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia, Short stature	ORPHA:2479
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r...	ORPHA:521426
Corneal Dystrophy, Thiel-Behnke Type	Photophobia	OMIM:602082
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail...	ORPHA:905
Scrub Typhus	Photophobia	ORPHA:83317
Prolidase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Petechiae, Skin ulcer	OMIM:170100
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ...	ORPHA:522077
Histidinemia	Hyperactivity	ORPHA:2157
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Trichothiodystrophy 1, Photosensitive	Photophobia, Small for gestational age	OMIM:601675
Transketolase Deficiency	Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C...	ORPHA:488618
Prolidase Deficiency	Arachnodactyly, Depressed nasal bridge, Hearing impairment, Erythema, Depressed nasal ridge, Skin...	ORPHA:742
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer	ORPHA:86884
Retinitis Punctata Albescens	Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot...	ORPHA:52427
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Reactive Arthritis	Photophobia, Cognitive impairment, Weight loss	ORPHA:29207
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, 2-3 toe syndactyly, Difficulty walking, Low-set ears, Hyposmia, ...	OMIM:618653
Late-Onset Retinal Degeneration	Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a...	ORPHA:67042
Hermansky-Pudlak Syndrome 6	Photophobia, Reduced visual acuity, Amblyopia	OMIM:614075
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Ataxia, Short stature, Aggressive behavior, Unsteady gait, Dysme...	OMIM:614756
Posterior Polymorphous Corneal Dystrophy	Very low visual acuity, Amblyopia, Reduced visual acuity, Photophobia, Blurred vision	ORPHA:98973
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Holoprosencephaly 7	Flat nasal alae, Partial agenesis of the corpus callosum, Absent nasal septal cartilage, Wide nas...	OMIM:610828
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Compulsive behaviors, Cervical cord compression, Conductive hearing impairment, Abnormal repetiti...	ORPHA:353281
Oculocutaneous Albinism Type 4	Photophobia, Reduced visual acuity	ORPHA:79435
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology, Gait disturbance	ORPHA:88619
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Intellectual Disability, Buenos-Aires Type	Photophobia	ORPHA:3079
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:614897
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rocker bottom foot, Single transverse pal...	OMIM:617527
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Chediak-Higashi Syndrome	Photophobia, Ataxia, Reduced visual acuity	OMIM:214500
Isolated Follicle Stimulating Hormone Deficiency	Anosmia, Gonadotropin deficiency	ORPHA:52901
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Short stature, Aggressive behavior, Unsteady gait, Polyphagia, Dysm...	ORPHA:96121
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Achromatopsia 2	Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia	OMIM:216900
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Ifap Syndrome 2	Photophobia	OMIM:619016
Acute Radiation Syndrome	Seizure, Scaling skin, Skin ulcer	ORPHA:454831
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Short attention span...	ORPHA:642
Alacrima, Congenital, Autosomal Recessive	Photophobia	OMIM:601549
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Self-injurious behavior, Seizure, Focal impa...	ORPHA:468678
Monosomy 22Q13.3	Hyperactivity, Hearing impairment, Impaired pain sensation, Hair-pulling, Bulbous nose, Wide nasa...	ORPHA:48652
Hermansky-Pudlak Syndrome 11	Photophobia, Reduced visual acuity	OMIM:619172
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Short stature, Abnormal repetitive mannerisms, Compulsi...	ORPHA:1001
Limbal Stem Cell Deficiency	Photophobia, Reduced visual acuity	ORPHA:171673
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Death in childhood, Intrauteri...	OMIM:619005
Cockayne Syndrome	Somatic sensory dysfunction, Ataxia, Cachexia, Hypermetropia, Photophobia, Progressive gait ataxi...	ORPHA:191
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Occipital Horn Syndrome	Aplasia/hypoplasia of the humerus, Coxa valga, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Ocular Cystinosis	Photophobia, Visual impairment	ORPHA:411641
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Chiari type I malformation, Compulsive behaviors, Cervical cord compression, Conductive hearing i...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Chiari type I malformation, Compulsive behaviors, Cervical cord compression, Conductive hearing i...	ORPHA:353277
Acquired Purpura Fulminans	Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Mend Syndrome	Hyperactivity, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Prominent nasa...	ORPHA:401973
Bainbridge-Ropers Syndrome	Death in infancy, Inability to walk, Growth delay, Self-injurious behavior, Intrauterine growth r...	OMIM:615485
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Blindness	OMIM:203300
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Distal sensory impairment,...	OMIM:256840
Ermine Phenotype	Photophobia	ORPHA:999
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Granular Corneal Dystrophy Type I	Photophobia, Reduced visual acuity, Visual impairment	ORPHA:98962
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera...	OMIM:619575
Fuchs Heterochromic Iridocyclitis	Vitreous floaters, Reduced visual acuity, Photophobia, Abnormal best corrected visual acuity test...	ORPHA:263479
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Chikungunya	Photophobia, Paresthesia, Depression	ORPHA:324625
Mucopolysaccharidosis, Type Vii	Photophobia, Visual impairment	OMIM:253220
Van Esch-O'Driscoll Syndrome	Short stature, Impulsivity, Shyness, Growth delay, Attention deficit hyperactivity disorder, Intr...	OMIM:301030
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Sandhoff Disease, Infantile Form	Exaggerated startle response, Abnormal thalamic MRI signal intensity	ORPHA:309155
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Hermansky-Pudlak Syndrome	Myopia, Amblyopia, Weight loss, Photophobia, Visual impairment	ORPHA:79430
Dominant Beta-Thalassemia	Irritability, Pallor, Skin ulcer	ORPHA:231226
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Hypoplasia of the pyramidal tract, Cerebellar hypoplasia, Agenesis ...	OMIM:253800
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter, Short stature	OMIM:615802
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Catastrophic Antiphospholipid Syndrome	Chorea, Dementia, Skin ulcer	ORPHA:464343
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Albinism, Oculocutaneous, Type Ia	Photophobia, Myopia, Reduced visual acuity, Visual impairment	OMIM:203100
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Autoamputation of digits, Decreased nerve conduction velocity, Osteolytic defects of the phalange...	OMIM:201300
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Anteverted nares, Overlapping toe, Depressed nasal bridge, Elbow fl...	OMIM:617301
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Chronic Mucocutaneous Candidiasis	Seizure, Erythema, Skin ulcer	ORPHA:1334
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Cystinosis, Nephropathic	Blindness, Failure to thrive in infancy, Progressive neurologic deterioration, Reduced visual acu...	OMIM:219800
8P11.2 Deletion Syndrome	External ear malformation, Anosmia, Depressed nasal bridge, Talipes equinovarus	ORPHA:251066
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Foxg1 Syndrome Due To 14Q12 Microdeletion	Seizure, Abnormal repetitive mannerisms	ORPHA:261144
Reynolds Syndrome	Skin ulcer, Dysphagia	ORPHA:779
Oculocutaneous Albinism Type 1B	Photophobia, Visual impairment	ORPHA:79434
Cockayne Syndrome Type 3	Cognitive impairment, Photophobia, Hypermetropia, Progressive neurologic deterioration	ORPHA:90324
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Short humerus, Exaggerated startle response, Short femur, Tapered finger, Irr...	OMIM:618367
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Mixed hearing impairment, Duplication of thumb pha...	ORPHA:2363
Lymphedema-Distichiasis Syndrome	Photophobia	ORPHA:33001
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Pain insensitivity, Ataxia, Short stature, Dysmetria, Gait ataxia, Dysphagia, T...	OMIM:617330
Oculocutaneous Albinism Type 1A	Photophobia, Visual impairment	ORPHA:79431
Autosomal Dominant Hyper-Ige Syndrome	Skin vesicle, Skin ulcer	ORPHA:2314
Insensitivity To Pain, Congenital, With Anhidrosis	Emotional lability, Acral ulceration	OMIM:256800
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Kleefstra Syndrome 1	Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Macular Corneal Dystrophy	Photophobia, Severely reduced visual acuity	ORPHA:98969
Leopard Syndrome 1	Scapular winging, Posteriorly rotated ears, Limited elbow movement, Sensorineural hearing impairm...	OMIM:151100
Werner Syndrome	Rocker bottom foot, Small hand, Lack of skin elasticity, Skin ulcer, Convex nasal ridge	ORPHA:902
Cystinosis, Adult Nonnephropathic	Photophobia	OMIM:219750
Kid Syndrome	Photophobia, Visual loss, Failure to thrive	ORPHA:477
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Low-set ears, Aplasia/Hypoplasia of the cerebellum, Abnormality of the d...	ORPHA:2570
Stevens-Johnson Syndrome	Photophobia, Visual impairment, Weight loss	ORPHA:36426
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Photophobia, Failure to thrive, Hypermetropia	ORPHA:79396
Sotos Syndrome	Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,...	OMIM:117550
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Intrauterine growth retardation, Exaggerated startle response	OMIM:620327
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Beta-Thalassemia Major	Irritability, Pallor, Skin ulcer	ORPHA:231214
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Growth delay, Exaggerated startle response	OMIM:608800
Toxic Epidermal Necrolysis	Photophobia, Visual loss, Weight loss	ORPHA:537
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Xeroderma Pigmentosum, Variant Type	Photophobia	OMIM:278750
Primary Sjögren Syndrome	Somatic sensory dysfunction, Abnormal cerebellum morphology, Chorea, Abnormal spinal cord morphol...	ORPHA:289390
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke...	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke...	ORPHA:529799
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Somatic sensory dysfunction, Myelopathy, Skin ulcer, Dist...	ORPHA:90307
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Anteverted nares, ...	ORPHA:955
Xeroderma Pigmentosum, Complementation Group E	Photophobia	OMIM:278740
Coccidioidomycosis	Photophobia, Cognitive impairment, Blurred vision	ORPHA:228123
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Short stature, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive b...	OMIM:615873
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer, Dysphagia	ORPHA:220393
Hermansky-Pudlak Syndrome 2	Photophobia, Reduced visual acuity	OMIM:608233
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Birth length less than 3rd percentile, Gait disturbance, Attention deficit hyperactivity disorder...	ORPHA:464311
Cushing Disease	Pituitary corticotropic cell adenoma, Fatiguable weakness of proximal limb muscles, Skin ulcer, D...	ORPHA:96253
Hereditary Spherocytosis	Ataxia, Pallor, Skin ulcer	ORPHA:822
Kallmann Syndrome-Heart Disease Syndrome	Sensorineural hearing impairment, Partial anosmia, Total anosmia	ORPHA:2326
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer	ORPHA:1806
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self...	ORPHA:805
Pgm3-Cdg	Ataxia, Skin ulcer, Seizure, Myoclonus, Cortical myoclonus	ORPHA:443811
Duplication Of The Pituitary Gland	Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Agenesis of corpus callosu...	ORPHA:314621
Pheochromocytoma	Hypercalcemia	OMIM:171300
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, Dilated vestibule o...	OMIM:611584
Xeroderma Pigmentosum, Complementation Group C	Photophobia	OMIM:278720
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Photophobia	OMIM:219900
Immunoglobulin A Vasculitis	Anorexia, Erythema, Skin ulcer, Seizure, Purpura	ORPHA:761
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Crimean-Congo Hemorrhagic Fever	Photophobia, Emotional lability, Confusion	ORPHA:99827
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Photophobia	OMIM:609944
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Progressive...	ORPHA:580
Microscopic Polyangiitis	Erythema, Skin ulcer	ORPHA:727
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Multifocal seizures, Aggressive behavior, EEG with central focal ...	OMIM:301066
Cancer-Associated Retinopathy	Constriction of peripheral visual field, Photopsia, Visual loss, Central scotoma, Adult-onset nig...	ORPHA:71505
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Disproportionate short stature, Abnormal repetitive mannerisms, Opisthotonus	ORPHA:508533
Gapo Syndrome	Photophobia	OMIM:230740
Neuropathy, Hereditary Sensory And Autonomic, Type V	Impaired vibratory sensation, Pain insensitivity, Impaired pain sensation, Impaired temperature s...	OMIM:608654
Livedoid Vasculopathy	Ecchymosis, Skin ulcer, Macular purpura	ORPHA:542643
Rift Valley Fever	Photophobia, Reduced visual acuity, Scotoma	ORPHA:319251
Leukonychia Totalis	Photophobia	ORPHA:2387
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum	ORPHA:486
Hydranencephaly	Thalamic edema, Opisthotonus, Infantile sensorineural hearing impairment, Lethargy, Dysgenesis of...	ORPHA:2177
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Memory impairment, Abdominal obesity, Increased body weight, Cognitive impairment	ORPHA:189427
Williams Syndrome	Redundant skin, Tremor, Dysmetria, Protruding ear, Compulsive behaviors, Clinodactyly of the 5th ...	ORPHA:904
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Skin ulcer, Short palm, Brachydactyly	ORPHA:2176
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Gonadotro...	OMIM:214800
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Skin ulcer, Genu valgum, Depression, EEG abnormality, Self-inj...	ORPHA:534
Meige Disease	Skin ulcer	ORPHA:90186
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Macrotia, Low-set ears, Dy...	ORPHA:79255
Juvenile Dermatomyositis	Erythema, Dry skin, Skin ulcer, Dysphagia	ORPHA:93672
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Myopia, Photophobia, Dementia, Mental deterioration, Failure to thrive	ORPHA:2273
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Oculocutaneous Albinism Type 2	Photophobia, Reduced visual acuity	ORPHA:79432
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Kleefstra Syndrome	Aggressive behavior, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Self-mutil...	ORPHA:261494
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Small earlobe, Abnorm...	OMIM:619522
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Lymphedema-Distichiasis Syndrome	Photophobia	OMIM:153400
Odontoonychodermal Dysplasia	Photophobia	OMIM:257980
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Chronic Granulomatous Disease	Skin ulcer	ORPHA:379
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hyposmia, Anosmia, Absent nares, Single naris	ORPHA:2250
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Osteolysis involving bones of the upper limbs, Abnormal conus terminalis mor...	ORPHA:464321
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Corneal Dystrophy, Posterior Polymorphous, 1	Photophobia	OMIM:122000
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Short stature, Gait disturbance, Intrauterine growth retardation, Abnormal repetit...	ORPHA:464306
Hereditary Cryohydrocytosis With Reduced Stomatin	Macrotia, Ataxia, Decreased thalamic volume, Brachydactyly	ORPHA:168577
Bosma Arhinia Microphthalmia Syndrome	Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, Aplasia of the nose, Atresia ...	OMIM:603457
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Photophobia, Hypermetropia	OMIM:210730
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Self-injurious behavior, Seizu...	ORPHA:468631
Eec Syndrome	Photophobia	ORPHA:1896
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Limb ataxia, Skin ulcer,...	ORPHA:2072
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Ataxia, Skin ulcer, Purpura	OMIM:615688
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b...	OMIM:619512
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa...	OMIM:301044
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness, Depression	ORPHA:95455
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Seizure, Status epilepticus, Scaling skin, Dry skin	ORPHA:2526
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the hand, Erythema, Depressed nasal ridge, Clubbing of toe...	ORPHA:3474
Amoebic Keratitis	Photophobia	ORPHA:67043
Kinsship Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619297
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Postnatal growth retardation, Abnormal repetitive mannerisms	OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Abnorm...	ORPHA:513456
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Erythema, Skin ulcer, Palmoplantar hyperkeratosis, Ab...	ORPHA:2907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Short stature, Inability to walk, Dysphagia, Dyst...	ORPHA:438213
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Sarcoidosis, Susceptibility To, 1	Photophobia, Weight loss, Blurred vision	OMIM:181000
Plague	Anorexia, Unsteady gait, Abnormality of the elbow, Skin ulcer, Depression, Dry skin, Delirium, He...	ORPHA:707
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Simple Cryoglobulinemia	Progressive neurologic deterioration, Paresthesia, Acral ulceration, Spontaneous pain sensation, ...	ORPHA:91139
Arboleda-Tham Syndrome	Dystonia, Growth delay, Gait imbalance, Dysphagia, Intrauterine growth retardation, Abnormal repe...	OMIM:616268
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Pituitary corticotropic cell adenoma, Fatiguable weakness of proximal limb muscles, Ski...	ORPHA:99889
Alacrima, Congenital, Autosomal Dominant	Photophobia	OMIM:103420
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Pain insensitivity, Ataxia, Broad-based gait, Distal sensory impairment...	OMIM:256810
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Skin ulcer, Palmoplantar keratoderma, Skin vesicle, Hearing...	ORPHA:1775
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia	OMIM:619718
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Digital ulcer, Osteolytic defects of the phalan...	ORPHA:90291
Sympathetic Ophthalmia	Photophobia, Reduced visual acuity, Vitreous floaters	ORPHA:79098
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Ogden Syndrome	Torticollis, Short stature, Postnatal growth retardation, Growth delay, Irritability, Dysphagia, ...	OMIM:300855
Granulomatosis With Polyangiitis	Skin ulcer	OMIM:608710
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Isolated Congenital Alacrima	Photophobia	ORPHA:91416
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Photophobia	ORPHA:1010
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Abnormality of the diencephalon, Radial club hand, Low-set ears	ORPHA:2165
Phacoanaphylactic Uveitis	Photophobia, Visual loss, Blurred vision	ORPHA:209959
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Ppoma	Hypercalcemia	ORPHA:97278
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
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Fusariosis	Skin ulcer	ORPHA:228119
Leprosy	Autoamputation of digits, Epistaxis, Impaired temperature sensation, Dysesthesia, Dissociated sen...	ORPHA:548
Sweet Syndrome	Skin vesicle, Pyoderma gangrenosum	ORPHA:3243
Malakoplakia	Skin ulcer	ORPHA:556
Wiskott-Aldrich Syndrome	Petechiae, Skin ulcer, Purpura	ORPHA:906
Waardenburg Syndrome, Type 4C	Sensorineural hearing impairment, Anosmia	OMIM:613266
Primrose Syndrome	Restlessness, Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Tics, Attentio...	OMIM:259050
Granulomatosis With Polyangiitis	Seizure, Skin ulcer, Purpura	ORPHA:900
Somatostatinoma	Hypercalcemia	ORPHA:97283
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Tubulointerstitial Nephritis And Uveitis Syndrome	Photophobia, Visual impairment, Weight loss	ORPHA:91500
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Norrie Disease	Narrow nasal bridge, Abnormality of the diencephalon, Sensorineural hearing impairment, Protrudin...	ORPHA:649
Grfoma	Hypercalcemia	ORPHA:97261
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Dermatomyositis	Erythema, Dry skin, Skin ulcer	ORPHA:221
Glucagonoma	Hypercalcemia	ORPHA:97280
Chronic Graft Versus Host Disease	Photophobia, Weight loss	ORPHA:99921
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
1P36 Deletion Syndrome	Short stature, Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetit...	ORPHA:1606
Blau Syndrome	Skin ulcer	OMIM:186580
Blau Syndrome	Photophobia, Visual loss	ORPHA:90340
Atypical Werner Syndrome	Rocker bottom foot, Lack of skin elasticity, Osteolytic defects of the phalanges of the hand, Ski...	ORPHA:79474
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight	ORPHA:264580
Split Cord Malformation	Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Penetrating foot ulcers, Spinal ...	ORPHA:573278
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms, Short stature	ORPHA:508498
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms, Short stature	OMIM:309590
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
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, Increased body weight, Weight loss	ORPHA:2298
Alström Syndrome	Somatic sensory dysfunction, Blindness, Ataxia, Visual loss, Obesity, Visual field defect, Photop...	ORPHA:64
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Short stature, Aggressive behavior	OMIM:309000
Wolf-Hirschhorn Syndrome	Short stature, Growth delay, Severe postnatal growth retardation, Intrauterine growth retardation...	OMIM:194190
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Short stature, Impaired pain sensation, Inability to walk, Dysphagia, G...	ORPHA:2152
Sarcoidosis	Hypercalcemia	ORPHA:797
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms, Short stature	OMIM:619325
Hellp Syndrome	Increased body weight	ORPHA:244242
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Dysphagia, Bruxism, ...	ORPHA:261537
Sotos Syndrome	Hypercalcemia	ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Dysphagia, Bruxism, ...	ORPHA:261552
Leukocyte Adhesion Deficiency	Seizure, Pyoderma gangrenosum	ORPHA:2968
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	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)	Shank3^{tm1c(KOMP)Mbp} Shank3^{tm1a(KOMP)Mbp} Shank3^{tm1d(KOMP)Mbp}	PMC4365696

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MGI Allele	Allele Type	Produced
Shank3^em2(IMPC)H	Exon Deletion	Mice
Shank3^em1(IMPC)H	Exon Deletion	Mice
Shank3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Shank3^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Shank3^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Shank3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Shank3 MGI:1930016

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

X-ray

Human diseases caused by Shank3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data