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Gene: Shank3 MGI:1930016

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavi... OMIM:606232
Monosomy 22Q13.3
Wide nasal bridge, Impaired pain sensation, Hearing impairment, Bruxism, Bulbous nose, Clinodacty... ORPHA:48652

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Affective Disorder 1
Depression, Mania 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
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Major Depressive Disorder
Depression OMIM:608516
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy 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
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autism
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:607373
Schizophrenia 15
Hyperactivity OMIM:613950
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, EEG abnormality, Bilateral tonic-clonic seizure, Motor s... OMIM:617171
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Bilateral tonic... OMIM:608636
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300495
Adamantinoma
Hypercalcemia ORPHA:55881
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Self-mutilation, Decreased body weight, Truncal ataxia, U... OMIM:614063
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Manganese Poisoning
Memory impairment, Depression, Confusion, Akinesia, Inappropriate laughter, Postural tremor, Emot... ORPHA:306682
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Developmental And Epileptic Encephalopathy 30
Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic ... OMIM:616341
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Hyperprolinemia, Type I
Seizure, Aggressive behavior, EEG abnormality, Hyperactivity, Motor stereotypy, Status epilepticus OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Seizure, Hyperactivity ORPHA:356996
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Hypsarrhythmia, ... OMIM:616056
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Seizure, Bruxism, Inappropriate laughter, Focal-onset seizure, Aggressive behavior, EEG abnormali... OMIM:619150
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Motor stereotypy, Status epilepticus, Seizure OMIM:617830
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Irritabili... 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
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Disinhibition... OMIM:168605
Huntington Disease
Mental deterioration, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Bradykinesia, Me... ORPHA:399
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy OMIM:617820
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer ORPHA:2337
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Short stature, Mo... OMIM:617862
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, ... OMIM:600795
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Posterior Cortical Atrophy
Color vision defect, Abnormality of vision, Memory impairment, Confusion, Cerebral visual impairm... ORPHA:54247
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Foxg1 Syndrome
Difficulty walking, Inability to walk, Bruxism, Reduced social reciprocity, Stereotypical hand wr... ORPHA:561854
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Sho... OMIM:234500
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Motor stereotypy, Clonic seizure, Seizure OMIM:620033
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Motor tics, Cerebellar calci... OMIM:615483
Spinocerebellar Ataxia 21
Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Postural tremor, Aggressive behavior, C... OMIM:607454
Hsd10 Disease
Postnatal growth retardation, Short attention span, Tremor, Gait disturbance, Ataxia, Dysphagia, ... ORPHA:391417
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Irritability, Dystonia, Hyperactivity, Ataxia,... ORPHA:248111
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:608049
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Chorea, Cog... ORPHA:309246
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Ataxia, Photo... OMIM:616732
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Seizure, Polymicrogyria, Motor stereotypy, Clonic seizure OMIM:615282
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Cerebellar dentate nucleus calcification, Chorea, Dysmet... OMIM:618317
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Idiopathic Intracranial Hypertension
Diplopia, Depression, Scintillating scotoma, Abnormal emotion, Obesity, Visual loss, Blurred visi... ORPHA:238624
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Motor stereotypy, ... OMIM:620065
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... ORPHA:3077
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Akinesia, Tremor, Dystonia, Aggressive behavior, Dementia, Bradykinesia OMIM:300894
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Convulsive status epilepticus, Stereotypical hand wringing, EEG abnormal... OMIM:618760
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hearing impairment, Foca... OMIM:613724
Corticobasal Syndrome
Memory impairment, Somatic sensory dysfunction, Akinesia, Limb dystonia, Tremor, Dystonia, Gait d... ORPHA:454887
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Ax... ORPHA:240071
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity, Delayed early... OMIM:618090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Usher Syndrome, Type Iiib
Truncal ataxia, Visual impairment, Photophobia OMIM:614504
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Kufor-Rakeb Syndrome
Akinesia, Distal sensory impairment, Tremor, Dystonia, Aggressive behavior, Gait disturbance, Tor... OMIM:606693
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Prolonged Electroretinal Response Suppression 1
Color vision defect, Bradyopsia, Difficulty adjusting to changes in luminance, Photophobia OMIM:608415
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Small hand, Lateral ventricle dilatation, Genu valgum, Emotional lability, Sensorin... ORPHA:300570
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Gait ataxia, Emotional lability, Aggressive ... ORPHA:98818
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Generalized dystonia, Limb ataxia, Limb dystonia, Cerebellar calcifications... OMIM:618824
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Depression, Falls, Emotional lability, Tremor, Irritability, Dy... ORPHA:683
Kleine-Levin Syndrome
Transient global amnesia, Depression, Confusion, Blurred vision, Irritability, Cognitive impairme... ORPHA:33543
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Cerebellar at... ORPHA:1947
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... OMIM:618718
Blue Cone Monochromacy
Visual impairment, Reduced visual acuity, Myopia, Blue cone monochromacy, Photophobia OMIM:303700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Prolonged Electroretinal Response Suppression 2
Photophobia, Reduced visual acuity, Difficulty adjusting to changes in luminance, Mildly reduced ... OMIM:620344
Tritanopia
Color vision test abnormality, Reduced visual acuity, Photophobia, Tritanomaly ORPHA:88629
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Intention tremor, Reduced social reciprocity, Ataxia ORPHA:137831
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive trait, EEG with genera... ORPHA:168491
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Infantile spasms, Irritability, Tonic seizure, Nocturnal seizures, Motor stereotypy, Foc... OMIM:617393
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia ORPHA:599373
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Dystonia, Aggressive beh... OMIM:615157
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration toler... ORPHA:411602
Mohr-Tranebjaerg Syndrome
Mental deterioration, Constriction of peripheral visual field, Reduced visual acuity, Cerebral vi... OMIM:304700
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand ... ORPHA:505652
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Inability to walk, Bruxism, I... ORPHA:3095
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Ataxi... ORPHA:247234
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Growth delay, Chorea, Action tremor, Tremor, Reduced social reciprocity, Aggressive b... OMIM:619738
Spinocerebellar Ataxia With Epilepsy
Depression, Focal T2 hyperintense thalamic lesion, Gait ataxia, EEG with occipital epileptiform d... ORPHA:254881
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Visual impairment, Photophobia, Congenital stationary night blindness OMIM:610427
Macular Dystrophy, Vitelliform, 3
Color vision defect, Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment OMIM:608161
Intellectual Developmental Disorder, X-Linked 108
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait OMIM:301024
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Excessive shyness, Short stature, Dystonia, Motor stereotypy, Waddling gait ORPHA:280763
Glycine Encephalopathy 1
Death in infancy, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impul... OMIM:605899
Optic Atrophy 12
Abnormal Ishihara plate test, Photophobia, Reduced visual acuity, Dyschromatopsia OMIM:618977
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Cognitive impairment, Progressive cerebellar ataxia ORPHA:98773
Cone-Rod Dystrophy 13
Color vision defect, Reduced visual acuity, Visual impairment, Photophobia OMIM:608194
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Phonophobia OMIM:609634
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, Disinhibition, T2 hypointense thalamus, Gait disturbance, EEG abnormality, Dem... OMIM:618193
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Myoclonic seizure, Seizure, Polymicrogyria, Bruxism, Inappropriate laugh... OMIM:614254
Achromatopsia
Color vision defect, Central scotoma, Reduced visual acuity, Monochromacy, Myopia, Hypermetropia,... ORPHA:49382
Postencephalitic Parkinsonism
Depression, Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Tremor by anatomical site, ... ORPHA:97349
Optic Atrophy 15
Photophobia, Reduced visual acuity, Central scotoma, Dyschromatopsia OMIM:620583
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis OMIM:618218
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Reduced visual acuity, Ataxia OMIM:618970
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Small hand, Short attention span, Bilateral single transver... ORPHA:444002
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Attention defi... ORPHA:98784
Achromatopsia 7
Photophobia, Reduced visual acuity, Achromatopsia, Central scotoma OMIM:616517
Cone-Rod Dystrophy 5
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma OMIM:600977
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Dystonia, Attention deficit hyperactivity disorder, Motor tics, Ataxia, B... OMIM:619725
Cone-Rod Dystrophy 17
Photophobia, Visual impairment, Central scotoma OMIM:615163
Progressive Cone Dystrophy
Color vision defect, Visual impairment, Photophobia ORPHA:1871
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Obesity, Short attention span, Cognitive impairment, Ataxia, Dystonia ORPHA:459033
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Progressive visual loss OMIM:602093
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Young-Onset Parkinson Disease
Depression, Hyposmia, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs,... ORPHA:2828
Babesiosis
Confusion, Depression, Photophobia ORPHA:108
Episodic Ataxia Type 6
Diplopia, Reduced visual acuity, Ataxia, Photophobia, Phonophobia ORPHA:209967
Retinal Cone Dystrophy 1
Color vision defect, Progressive visual loss, Photophobia OMIM:180020
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Reduced visual acuity, Nyctalopia, Myopia, Visual impairment, Photophobia OMIM:304020
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment ORPHA:16
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... OMIM:618917
Optic Atrophy 6
Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Lopes-Maciel-Rodan Syndrome
Bruxism, Tremor, Dystonia, Dysphagia, Unsteady gait, Bradykinesia, Motor stereotypy, Agitation OMIM:617435
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Difficulty walking, Cognitive impairment, Oromandibular dystonia, C... ORPHA:397725
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Reduced visual acuity, Pericentral scotoma, Nyctalopia, Myopia, Pho... OMIM:620342
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a... ORPHA:391411
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Gait ataxia, Short attention span, Emotional lability, Recurrent hand flapping... OMIM:619580
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav... OMIM:610042
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure OMIM:613886
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Neuroferritinopathy
Blepharospasm, Arm dystonia, Resting tremor, Difficulty walking, Frontal lobe dementia, Chorea, L... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Intrauterine growth retardation, Stereotypical hand wringing, Birth lengt... OMIM:614104
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Emotional lability, Disinhibition OMIM:612069
Cone Rod Dystrophy
Color vision defect, Visual impairment, Photophobia, Nyctalopia ORPHA:1872
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:614186
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Christianson Syndrome
Inappropriate laughter, Death in early adulthood, Gait ataxia, Motor stereotypy, Truncal ataxia, ... ORPHA:85278
Choroidal Dystrophy, Central Areolar 2
Photophobia OMIM:613105
Chilblain Lupus 1
Skin ulcer OMIM:610448
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Nyctalopia, Mild myopia OMIM:617024
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Inability to walk, Short attention span, Reduced social reciprocity, Dystonia, ... OMIM:617854
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Cerebellar atrophy, Interictal EEG abnormality, Focal T2 hyperintense thalamic lesion... ORPHA:79264
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Tip-toe gait, Obesity, Impaired vibration sensation in the lower limbs, Ata... OMIM:604360
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Spinocerebellar Ataxia Type 29
Gait ataxia, Intention tremor, Dysmetria, Delayed early-childhood social milestone development, C... ORPHA:208513
Oculoskeletodental Syndrome
Wide nasal bridge, Depressed nasal bridge, Short 5th finger, Conductive hearing impairment, Abnor... ORPHA:557003
Leber Congenital Amaurosis With Early-Onset Deafness
Photophobia, Reduced visual acuity, High hypermetropia OMIM:617879
Xq28 (MECP2) duplication
Depression, Inability to walk, Gait ataxia, Death in childhood, Dysphagia, Motor stereotypy DECIPHER:45
Myoclonic-Astatic Epilepsy
Ataxia, Wide nasal bridge, EEG with irregular generalized spike and wave complexes, Premature ski... ORPHA:1942
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment OMIM:300650
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Blepharospasm, Depression, Akinesia, Obsessive-compulsive trai... OMIM:234200
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Reduced so... ORPHA:544254
Mucolipidosis Iv
Progressive neurologic deterioration, Photophobia, Visual impairment OMIM:252650
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment OMIM:606952
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Macular Dystrophy, Patterned, 1
Metamorphopsia, Reduced visual acuity, Photophobia, Nyctalopia OMIM:169150
Oligocone Trichromacy
Photophobia ORPHA:75378
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Retinal Cone Dystrophy 3B
Scotoma, Reduced visual acuity, Nyctalopia, Myopia, Photophobia OMIM:610356
Cone-Rod Dystrophy 22
Photophobia, Reduced visual acuity OMIM:619531
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Photophobia OMIM:610381
Postorgasmic Illness Syndrome
Photophobia, Depression, Blurred vision, Irritability ORPHA:279947
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia... OMIM:613660
Cach Syndrome
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, Limb ataxia, Dysmetr... ORPHA:135
Episodic Ataxia, Type 6
Diplopia, Episodic ataxia, Truncal ataxia, Phonophobia, Photophobia OMIM:612656
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Emotional lability, Lethargy, Cognitive impairment, Ataxia, Delirium, Motor stereotypy... ORPHA:927
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Short stature, Paroxysmal bursts of laughter... OMIM:620445
Achromatopsia 3
Dyschromatopsia, High myopia, Moderately reduced visual acuity, Achromatopsia, Monochromacy, Phot... OMIM:262300
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Cone-Rod Dystrophy 21
Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ... ORPHA:208447
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment OMIM:610478
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Postural tremor, Axial... OMIM:609454
Infantile Krabbe Disease
Hyperesthesia, Mental deterioration, Failure to thrive, Blindness, Visual loss, Irritability, Cac... ORPHA:206436
Leber Congenital Amaurosis 2
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia OMIM:204100
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Obesity, Ataxia, Dystonia, Waddling gait OMIM:616756
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Intericta... ORPHA:363558
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Growth delay, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, ... ORPHA:228402
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Chorea, Short attention span, Irritability, Exaggerated startle response, Shor... OMIM:617864
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Lethargy, Progressive neurologic deterioration, Agitation ORPHA:276608
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Ataxia, Motor stereot... ORPHA:530983
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Rasmussen Subacute Encephalitis
Hemidystonia, Memory impairment, Inability to walk, Emotional lability, Irritability, Attention d... ORPHA:1929
Leber Congenital Amaurosis 14
Photophobia, Congenital blindness, Reduced visual acuity, Nyctalopia OMIM:613341
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Akinesia, Postural tremor, Freezing of gait, Dystonia OMIM:619911
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Central scotoma, Reduced visual acuity, Myopia, Visual impairment, Photophobia OMIM:300476
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hartnup Disease
Photophobia, Abnormality of vision, Emotional lability, Ataxia ORPHA:2116
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, Motor stereot... OMIM:619877
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... OMIM:601104
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Photophobia, Gait ataxia ORPHA:438134
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity OMIM:613826
Leber Congenital Amaurosis 1
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia OMIM:204000
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Cone-Rod Dystrophy 16
Photophobia, Reduced visual acuity, Progressive visual loss, Nyctalopia OMIM:614500
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Japanese Encephalitis
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Paucity of anterior... ORPHA:79139
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Reduced visual acuity,... OMIM:300029
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Clinodactyly, Ectrodactyly, Agenesis of corpus callosum, Sensorineural ... OMIM:147950
Rett Syndrome
Growth delay, Bradykinesia, Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wr... ORPHA:778
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Tremor, Aggressive behavior, Attention deficit hyperactivity disor... OMIM:618342
Acute Disseminated Encephalomyelitis
Mental deterioration, Myelitis, Somatic sensory dysfunction, EEG with generalized slow activity, ... ORPHA:83597
Parkinson Disease 17
Akinesia, Resting tremor, Tremor, Bradykinesia OMIM:614203
Microphthalmia, Isolated 5
Photophobia, Reduced visual acuity, High hypermetropia, Nyctalopia OMIM:611040
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Retinitis Pigmentosa 32
Photophobia, Reduced visual acuity, Nyctalopia OMIM:609913
Retinitis Pigmentosa 79
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:617460
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:620292
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Tremor, Self-mutilation, Gait disturbance, Short stature, Motor stereotypy ORPHA:457240
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Short attention span, Abnormal eating b... ORPHA:98794
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Hypoplasia of the pons, Attention def... ORPHA:467166
Superficial Siderosis
Anosmia, Partial anosmia, Memory impairment, Cerebellar atrophy, Impaired pain sensation, Impaire... ORPHA:247245
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Hand tremor, Increased body weight, Attention deficit hyperactivity disorder, Gait disturbance, I... ORPHA:589905
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Aceruloplasminemia
Blepharospasm, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Craniofacia... ORPHA:48818
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Retinal Cone Dystrophy 3A
Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia, Photophobia OMIM:610024
Infantile Neuroaxonal Dystrophy
Mental deterioration, Short attention span, Emotional lability, Choking episodes, Dystonia, Gait ... ORPHA:35069
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Oculopharyngodistal Myopathy 3
Photophobia, Ataxia OMIM:619473
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity OMIM:619165
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Atrophy/Degeneration involving the spinal cord, Memory impairment, ... ORPHA:70595
Mohr-Tranebjaerg Syndrome
Mental deterioration, Color vision defect, Visual loss, Central scotoma, Attention deficit hypera... ORPHA:52368
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Large for gestational age, Aggressive behavior, Ataxia, Agitation OMIM:616116
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Broad thumb, Abnormal thalamus morphology, Broad hallux, Prominent nose, ... ORPHA:435638
Spinocerebellar Ataxia Type 7
Mental deterioration, Somatic sensory dysfunction, Failure to thrive, Blindness, Visual loss, Dys... ORPHA:94147
Retinitis Pigmentosa 51
Obesity, High myopia, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:613464
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Chorea, Gait ataxia, Short attention span, Dysmetria, Emotional lability, D... OMIM:610217
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Motor stereotypy OMIM:619092
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, EEG with spike-wa... ORPHA:64280
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Unstea... OMIM:617542
Irvan Syndrome
Photophobia, Reduced visual acuity, Blurred vision, Vitreous floaters ORPHA:209943
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Postnatal growth retardation, Short attention span, Aggressive behavior, Attention de... OMIM:620242
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Impaired pain sensation, Skin ulcer, Acral ulceration,... ORPHA:139578
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Short stature, Ch... OMIM:620023
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong... OMIM:608643
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Chorea, Aggressive behavior, Hyperactivity, Compulsive behav... ORPHA:485350
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Gait ataxia, Limb dystonia, Tremor, Hyperactivity, Cogniti... ORPHA:363400
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Birdshot Chorioretinopathy
Blind-spot enlargment, Visual loss, Blurred vision, Vitreous floaters, Arcuate scotoma, Photophobia ORPHA:179
Boucher-Neuhauser Syndrome
Progressive visual loss, Photophobia, Gait ataxia, Ataxia OMIM:215470
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Thiel-Behnke Corneal Dystrophy
Slow decrease in visual acuity, Photophobia ORPHA:98960
Beta-Thalassemia
Pallor, Skin ulcer, Irritability ORPHA:848
Bardet-Biedl Syndrome 17
Anosmia, Postaxial foot polydactyly, Polydipsia, Mesoaxial hand polydactyly, Polydactyly, Cogniti... OMIM:615994
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Lyme Disease
Memory impairment, Paresthesia, Photophobia, Amaurosis fugax ORPHA:91546
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Septo-Optic Dysplasia Spectrum
Anosmia, Polydipsia, Dry skin, Agenesis of corpus callosum, Sensorineural hearing impairment, Apl... ORPHA:3157
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity ORPHA:370097
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Resting tremor, Akinesia, Limb dystonia, Dementia OMIM:616840
Hydrolethalus
Low-set ears, Micromelia, Low-set, posteriorly rotated ears, Abnormality of the sense of smell, A... ORPHA:2189
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Aplasia Cutis Congenita
Erythema, Skin ulcer ORPHA:1114
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Difficulty walking, Chorea,... ORPHA:309271
Leber Congenital Amaurosis 9
Color vision defect, Ultra-low vision, Ultra-low vision with retained light perception, Eye pokin... OMIM:608553
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, Obesity, Self-mutilation, Stereotypical hand wrin... ORPHA:163681
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivit... OMIM:300352
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Short stature, Hyperact... ORPHA:352490
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Hearing impairment, Mesoaxial hand polydactyly, Postaxial polydactyly... OMIM:615996
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... OMIM:615656
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Hydroa Vacciniforme
Photophobia, Reduced visual acuity ORPHA:330058
Developmental And Epileptic Encephalopathy 109
Intrauterine growth retardation, Crouch gait, Gait ataxia, Hyperactivity OMIM:620145
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Growth delay, Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor g... OMIM:619121
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Postaxial foot polydactyly, Broad distal... ORPHA:404440
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia, Phonophobia OMIM:607516
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
48,Xxyy Syndrome
Depression, Tremor, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:10
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Hearing impairment, Decreased amplitude of sensory action potentials, Skin ul... ORPHA:36386
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Tay-Sachs Disease
Mania, Memory impairment, Depression, Hearing impairment, Cerebellar atrophy, Laryngeal dystonia,... ORPHA:845
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Meningococcal Meningitis
Photophobia, Paresthesia, Irritability ORPHA:33475
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
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
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A... OMIM:617600
Migraine Without Aura, Susceptibility To, 4
Photophobia, Phonophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia, Phonophobia OMIM:607508
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Reduced social reciprocity, Irritability, Tongue thrusting, Dystonia, Athetosis,... OMIM:613454
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Impaired pain sensation, Skin ulcer, EEG abnormalit... ORPHA:2047
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... ORPHA:369873
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615266
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hyperlysinemia, Type I
Short attention span, Dysdiadochokinesis, Cognitive impairment, Hyperactivity OMIM:238700
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Skin ulcer, Confusion, Abnormal cerebellum morphology, Irr... ORPHA:68
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615271
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Depression, Growth delay, Hostility, Inability to walk, Bruxism, Chorea, Repe... OMIM:300260
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Ataxia, Unsteady... OMIM:618124
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... ORPHA:309263
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Decreased thalamic volume OMIM:618646
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Mild neurosensory hearing impairment, Decreased motor nerve conduction velocity, Positiv... OMIM:601152
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Optic Atrophy 11
Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Hyperactivity, G... OMIM:617302
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Dystonia, Motor... OMIM:618004
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Dracunculiasis
Skin ulcer ORPHA:231
Chiari Malformation Type I
Diplopia, Hyperacusis, Paresthesia, Gait ataxia, Photophobia OMIM:118420
Timothy Syndrome
Hypocalcemia OMIM:601005
Sjögren-Larsson Syndrome
Myopia, Photophobia ORPHA:816
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Emotional lability, Tremor, Aggressive behavior, Delayed puberty, Hyperactivity, Sho... OMIM:300354
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Hypsarrhythmia, Dysphagia OMIM:613668
Alexander Disease Type I
Cerebellar atrophy, Dysphagia, Abnormal thalamic MRI signal intensity, Ataxia ORPHA:363717
Neovascular Glaucoma
Photophobia, Visual acuity test abnormality, Visual loss ORPHA:94058
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Obesity, Cognitive impairment, Ataxia, Dystonia OMIM:616267
Congenital Tufting Enteropathy
Photophobia, Weight loss, Failure to thrive, Irritability ORPHA:92050
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Difficulty walking, Gait ataxia, Dystonia, Motor stereotypy OMIM:617807
Tick-Borne Encephalitis
Depression, Somatic sensory dysfunction, Diminished ability to concentrate, Cognitive impairment,... ORPHA:297
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:43
Classic Mycosis Fungoides
Erythema, Skin ulcer, Dry skin ORPHA:2584
Gaucher Disease, Perinatal Lethal
Akinesia, Intrauterine growth retardation, Neonatal death, Opisthotonus, Progressive neurologic d... OMIM:608013
Leigh Syndrome
Cerebellar atrophy, Chorea, Olivopontocerebellar atrophy, Sensorineural hearing impairment, Agene... ORPHA:506
Meningioma
Transient global amnesia, Secondary growth hormone deficiency, Memory impairment, Hypothalamic hy... ORPHA:2495
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Abnormal nerve conduction velocity, Anosmia, Painless fractures due to injury... OMIM:243000
Rett Syndrome
Bruxism, Gait ataxia, Stereotypical hand wringing, Gait apraxia, Motor deterioration, Short statu... OMIM:312750
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... OMIM:618825
Albinism, Oculocutaneous, Type Vii
Photophobia, Reduced visual acuity, High hypermetropia OMIM:615179
Free Sialic Acid Storage Disease
Skin ulcer, Seizure, Gait disturbance, Ataxia, Athetosis ORPHA:834
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Head-banging, Seizure, Onychotillomania, Self-mutilation, Hyp... OMIM:182290
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Obes... ORPHA:411511
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hijazi-Reis Syndrome
Postnatal growth retardation, Gait disturbance, Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Resting tremor, Bruxism, Obesity, Tremor, Dystonia, Ataxia, Spastic gait, Bradyki... OMIM:300055
Insulinoma
Transient global amnesia, Paresthesia, Tremor, Increased body weight, Polyphagia, Lethargy, Abnor... ORPHA:97279
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Dyschromatopsia, Progressive psychomotor deterioration, Obesity, Progressive ... ORPHA:251004
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer ORPHA:743
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Hyperactivity, Cognitive impairment, Ataxia, Short stature OMIM:601853
Cri-Du-Chat Syndrome
Growth delay, Difficulty walking, Short attention span, Oppositional defiant disorder, Overfriend... OMIM:123450
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, EEG with generalized slow activity ORPHA:397612
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Broad thumb, Hearing impairment, Sandal gap, Short columella, Reduc... OMIM:619775
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Hearing impairment, Decreased nerve conduction velocity, Short nose, Reduced ... OMIM:256600
Sjogren-Larsson Syndrome
Color vision defect, Reduced visual acuity, Photophobia OMIM:270200
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Decreased thalamic volume, Rocker bottom foot, Cerebellar hypoplasia OMIM:619072
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Distal sensory impairment, Impa... ORPHA:254930
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Hypsarrhythmia, EEG with general... OMIM:300672
Adenylosuccinase Deficiency
Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Aggressive behavior, Opi... OMIM:103050
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Postnatal growth retardation, Recurrent hand flappi... OMIM:300912
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hypoplasia of the pons, Dilated fourth ventricle, Abnormal cerebellum ... ORPHA:370959
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Acrogeria
Skin ulcer, Excessive wrinkled skin ORPHA:2500
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Proximal 16P11.2 Microdeletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Dystonia, Motor stereotypy,... ORPHA:261197
Buerger Disease
Skin ulcer ORPHA:36258
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure with generalized ... ORPHA:98795
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Citrullinemia Type Ii
Memory impairment, Confusion, Delayed menarche, Abnormal eating behavior, Tremor, Irritability, A... ORPHA:247585
Acrodermatitis Enteropathica
Failure to thrive, Emotional lability, Weight loss, Photophobia, Visual impairment ORPHA:37
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Broad thumb, Narrow nose, Narrow nasal bridge, Prominent nasal bridge, Emotional la... OMIM:309520
Holoprosencephaly
Abnormal antihelix morphology, Cognitive impairment, Dandy-Walker malformation, Abnormal pinna mo... ORPHA:2162
Congenital Myopathy 9A
Short stature, Akinesia, Death in infancy OMIM:618822
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Visual loss, Myopia, Nyctalopia, Photophobia ORPHA:5
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Camptodactyly of finger, Abnormality of the sense of s... ORPHA:3201
Potocki-Lupski Syndrome
Seizure, Oral-pharyngeal dysphagia, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:610883
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social... ORPHA:309256
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait OMIM:618205
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Jalili Syndrome
High hypermetropia, Scotoma, Monochromacy, Nyctalopia, Photophobia, Visual impairment OMIM:217080
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation OMIM:618056
Radio-Tartaglia Syndrome
Gait imbalance, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia,... OMIM:619312
Niemann-Pick Disease, Type C2
Death in childhood, Death in infancy, Dysphagia, Ataxia, Dementia, Dystonia, Motor stereotypy OMIM:607625
Galloway-Mowat Syndrome 6
Growth delay, Intrauterine growth retardation, Motor stereotypy, Short stature, Paroxysmal bursts... OMIM:618347
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Abnormality of the sense of smell, Cerebellar hypoplasia, Anterio... OMIM:616113
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Obesity, Action tremor, Dysmetria, Gait disturbance, Unsteady gait ORPHA:93952
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Impaired pain sensa... OMIM:613640
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Hypsarrhythmia, Dysphagia, Hyperactivity, Myoclonic... ORPHA:447997
Ritscher-Schinzel Syndrome 4
Chorea, Aggressive behavior, Dysphagia, Ataxia, Short stature, Athetosis, Motor stereotypy, Impul... OMIM:619435
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Dysphagia, Interictal epileptiform activity, Status epilepticus, Motor stereotypy, Focal... OMIM:617802
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Diplopia, Somatic sensory dysfunction, Gait ataxia, Photophobia, D... ORPHA:268882
Refsum Disease
Anosmia, Dry skin, Sensorineural hearing impairment, Short metacarpal, Ataxia, Hammertoe ORPHA:773
Reversible Cerebral Vasoconstriction Syndrome
Photophobia, Confusion, Phonophobia, Blurred vision ORPHA:284388
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressiv... OMIM:600430
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor st... OMIM:618430
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Anosmia, Total anosmia, Ataxia OMIM:614879
Fg Syndrome Type 1
Small pituitary gland, Choanal atresia, Broad-based gait, Cupped ear, Finger syndactyly, Clinodac... ORPHA:93932
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Seizure ORPHA:85277
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Mental deterioration, Choreoathetosis, Ataxia OMIM:278730
Rhombencephalosynapsis
Finger syndactyly, Low-set, posteriorly rotated ears, Fusion of the left and right thalami, Fusio... ORPHA:59315
Adult Polyglucosan Body Disease
Skin ulcer, Distal sensory impairment, Gait disturbance, Ataxia, Dementia ORPHA:206583
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Parkinson Disease 8, Autosomal Dominant
Dementia, Bradykinesia, Resting tremor, Hyposmia OMIM:607060
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Infantile spasms, Dysphagia, Pachygyria, Motor stereotypy ORPHA:572013
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Chorea, Limb dystonia, Lo... ORPHA:646
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Coffin-Siris Syndrome 6
Short stature, Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Pica, Stereotypical body rocking, Tongue thrusting, Hyperactivity, Ataxia, Tics... OMIM:617865
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Hyperactivity, Ataxia, Short stature, Dystonia, Athetosis ORPHA:52503
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ... ORPHA:139396
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Amaurosis-Hypertrichosis Syndrome
Photophobia, High hypermetropia, Visual impairment ORPHA:1021
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Polyphagia, Ataxia, Short foot, Short nose, Self-injurious behavior, Cerebellar ver... OMIM:156200
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Constriction of peripheral visual field, Dysmetria, Reduced visual acuity, Ataxia, Photophobia OMIM:618527
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Broad-based gait, Abnormal thalamus morphology, Progressive senso... ORPHA:2959
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy OMIM:613443
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Chilblain Lupus
Skin ulcer ORPHA:90280
Necrobiosis Lipoidica
Erythema, Skin ulcer ORPHA:542592
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Hyposmia, Sensorineural hearing impairment OMIM:612702
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity, Short stature, Motor stereotypy ORPHA:391307
Hyperostosis Cranialis Interna
Anosmia, Sensorineural hearing impairment, Tinnitus, Chiari type I malformation, Hyposmia OMIM:144755
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620502
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Photophobia, Tritanom... OMIM:611131
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyper... OMIM:617061
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Hearing impairment, Short nasal ... OMIM:302950
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Refsum Disease, Classic
Anosmia, Somatic sensory dysfunction, Sensorineural hearing impairment, Ataxia, Short fourth meta... OMIM:266500
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Retinitis Pigmentosa 23
Color vision defect, Constriction of peripheral visual field, Mild myopia, Photophobia, Severely ... OMIM:300424
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Aggressive behavior, Generalize... OMIM:616393
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Gait ataxia, Impaired pain sensation, Overfriendliness OMIM:616579
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Increased body weight, Lethargy, Progressive neurologic deteri... ORPHA:263455
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Impaired temperature sensation, Death in childhood... OMIM:268800
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Memory impairment, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive cerebell... ORPHA:314647
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Clinodactyly, Hyposmia OMIM:614838
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Reduced visual acuity, Nyctalopia, Truncal obesity, Photophobia OMIM:617547
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Intrauterine growth retardation, Short attention span, Tremor, Stereotypical h... OMIM:619229
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Prominent nose, Dysplastic corpus callosum, EEG abnormality, Hypera... OMIM:617281
4Q21 Microdeletion Syndrome
Self-injurious behavior, Growth delay, Intrauterine growth retardation, Tremor, Motor stereotypy ORPHA:238750
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Mucolipidosis Type Iv
Photophobia, Ataxia ORPHA:578
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Inability to walk, Delayed menarche, Inappropriate lau... ORPHA:72
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyperactivity disord... ORPHA:476126
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Jalili Syndrome
Color vision defect, Visual impairment, Photophobia ORPHA:1873
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, EEG ... ORPHA:457351
Smith-Magenis Syndrome
Self-injurious behavior, Impaired pain sensation, Attention deficit hyperactivity disorder, Gait ... ORPHA:819
Cataract 2, Multiple Types
Photophobia, Visual impairment, Amblyopia OMIM:604307
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Dpagt1-Cdg
Head-banging, Inability to walk, Akinesia, Stereotypical body rocking, Tremor, Aggressive behavio... ORPHA:86309
Perrault Syndrome 4
Obesity, Gait ataxia, Cognitive impairment, Disproportionate tall stature OMIM:615300
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Conductive hearing impairment, Atresia of the external auditory canal, ... ORPHA:2316
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Broad-based gait, Increased body mass index OMIM:614450
Mhc Class I Deficiency 1
Skin ulcer OMIM:604571
Oculocutaneous Albinism Type 1
Photophobia, Reduced visual acuity, Amblyopia ORPHA:352731
Xeroderma Pigmentosum Variant
Photophobia ORPHA:90342
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Inability to walk, Obesity, Short attention span, Gait d... ORPHA:2822
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
48,Xxxy Syndrome
Depressed nasal ridge, Elbow dislocation, Tremor, Irritability, Talipes equinovarus, Attention de... ORPHA:96263
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Finger joint hypermobility, Hearing impairment, Hyposmia OMIM:244200
Prader-Willi Syndrome Due To Translocation
Small hand, Lateral ventricle dilatation, Clinodactyly, Overlapping toe, Anterior pituitary hypop... ORPHA:177907
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Distal sensory impairment OMIM:256850
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... OMIM:619293
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Familial Drusen
Metamorphopsia, Visual loss, Photophobia, Paracentral scotoma ORPHA:75376
Retinitis Pigmentosa 72
Constriction of peripheral visual field, High myopia, Reduced visual acuity, Nyctalopia, Photophobia OMIM:616469
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Hearing impairment OMIM:619057
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Cockayne Syndrome Type 2
Photophobia, Visual impairment, Ataxia ORPHA:90322
Hypophosphatasia
Hypercalcemia ORPHA:436
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Brain-Lung-Thyroid Syndrome
Falls, Growth delay, Chorea, Abnormal eating behavior, Short attention span, Intention tremor, Ab... ORPHA:209905
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Angelman Syndrome
Broad-based gait, Progressive gait ataxia, Hyperactivity, Limb tremor, Ataxia, Paroxysmal bursts ... OMIM:105830
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Kallmann Syndrome
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Tremor, Sensorineural hearing im... ORPHA:478
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Takayasu Arteritis
Skin ulcer, Seizure, Anorexia ORPHA:3287
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Grow... OMIM:612716
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Ollier Disease
Skin ulcer ORPHA:296
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Absent hand, Aplasia/Hyp... ORPHA:570
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Seizure ORPHA:228384
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Trigeminal Neuralgia
Depression, Paresthesia, Somatic sensory dysfunction, Allodynia ORPHA:221091
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618504
Axial Spondylometaphyseal Dysplasia
Photophobia, Reduced visual acuity, Amblyopia, Dyschromatopsia ORPHA:168549
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Dysphag... ORPHA:485421
Behçet Disease
Memory impairment, Confusion, Paresthesia, Blindness, Irritability, Weight loss, Ataxia, Photophobia ORPHA:117
Paroxysmal Hemicrania
Photophobia, Phonophobia ORPHA:157835
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Pituitary Apoplexy
Diplopia, Confusion, Abnormal static automated perimetry test, Blurred vision, Reduced visual acu... ORPHA:95613
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotated ears, Rudimentary to absent t... ORPHA:958
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Hyperactivit... OMIM:608747
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Genu valgum OMIM:614880
Immunodeficiency 114, Folate-Responsive
Skin ulcer, Seizure OMIM:620603
Nmda Receptor Encephalitis
Memory impairment, Depression, Oculogyric crisis, Confusion, Chorea, Short attention span, Motor ... ORPHA:217253
Cystinosis
Photophobia, Visual impairment, Failure to thrive ORPHA:213
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Anosmia, Hyposmia OMIM:617885
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Absent thumb OMIM:274190
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Irritability, Lethargy, Hyperactivity, Exaggerated startle response, Dystonia, Impulsi... OMIM:620423
8Q21.11 Microdeletion Syndrome
Low-set ears, Hearing impairment, Underdeveloped nasal alae, Finger syndactyly, Camptodactyly of ... ORPHA:284160
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Pain insensitivity, Impaired vibratory sensation, Impaired temperature sensation, Sensorineural h... OMIM:616488
White-Sutton Syndrome
Self-injurious behavior, Intrauterine growth retardation, Overfriendliness, Irritability, Aggress... OMIM:616364
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short distal phalanx of finger, Genu valgum, Abnormal metacarpal morphology, Brachydacty... ORPHA:1295
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Hand tremor, Acral ulceration, Distal sensory impairme... OMIM:162400
Retinal Arteries, Tortuosity Of
Photophobia, Visual loss OMIM:180000
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia OMIM:614457
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal, Hyposmia OMIM:607842
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hyposmia, Ataxia OMIM:308700
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Overfriendliness, Agenesis of corpu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Overfriendliness, Agenesis of corpu... ORPHA:363958
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Photophobia, Myopia, Failure to thrive OMIM:242150
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Encephalitis Lethargica
Mental deterioration, Diplopia, Photophobia ORPHA:83600
Chromosome 16Q12 Duplication Syndrome
High myopia, Reduced visual acuity, Paracentral scotoma, Nyctalopia, Photophobia, Tritanomaly OMIM:619649
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Agitation, Ataxia OMIM:619046
Retinitis Pigmentosa
Obesity, Peripheral visual field loss, Blindness, Progressive night blindness, Photopsia, Nyctalo... ORPHA:791
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Retinitis Pigmentosa 25
Photophobia, Constriction of peripheral visual field, Nyctalopia OMIM:602772
Pontocerebellar Hypoplasia, Type 8
Low-set ears, Chorea, Anteverted nares, Gait ataxia, Reduced social reciprocity, Cerebellar hypop... OMIM:614961
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Dilated third ventricle, Hypoplasia of the pons, EEG with burst sup... OMIM:615574
Leishmaniasis
Pallor, Skin ulcer, Anorexia ORPHA:507
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Seizure ORPHA:529965
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Attention deficit hyperactivity disorder, Small for gestational age OMIM:274300
Miller Fisher Syndrome
Diplopia, Paresthesia, Blurred vision, Ataxia, Photophobia ORPHA:98919
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia OMIM:308750
Tyrosinemia Type 2
Photophobia, Visual loss, Ataxia ORPHA:28378
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia, Cutaneous finger syndactyly OMIM:210745
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Abnormality of the sense of smell OMIM:229070
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Chorea, Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Cone-Rod Dystrophy 10
Photophobia, Peripheral visual field loss, Progressive visual loss, Nyctalopia OMIM:610283
Laurence-Moon Syndrome
Obesity, Ataxia OMIM:245800
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hearing impairment OMIM:615267
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... ORPHA:457279
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Campomelic Dysplasia
Low-set ears, Depressed nasal bridge, Hearing impairment, Femoral bowing, Abnormality of the sens... ORPHA:140
Gelatinous Drop-Like Corneal Dystrophy
Photophobia, Reduced visual acuity, Blurred vision ORPHA:98957
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Seizure, Polymicrogyria OMIM:617751
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
47,Xyy Syndrome
Low-set ears, Dysgenesis of the cerebellar vermis, Finger clinodactyly, Cerebellar dysplasia, Red... ORPHA:8
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... ORPHA:95513
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Depressed nasal bridge, Depression, Hearing impairment,... ORPHA:110
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavi... OMIM:606232
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
African Trypanosomiasis
Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Tremor, Irritability, Agg... ORPHA:3385
Flotch Syndrome
Photophobia ORPHA:2045
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Growth delay ORPHA:1727
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Emotional lability, Cognitive impairment, Torticollis, Ataxia, Tics, Motor ster... OMIM:619475
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Growth delay, Death in childhood OMIM:619147
Arthrogryposis Multiplex Congenita 5
Hand tremor, Intrauterine growth retardation, Akinesia, Death in infancy, Dystonia, Growth delay OMIM:618947
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Sensorineural hearing impairment OMIM:612370
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Congenital Myopathy 12
Akinesia, Death in infancy OMIM:612540
Wagro Syndrome
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Intrauterine growth retardation, Tremor, Aggressive behavior, Attention ... OMIM:620494
Beck-Fahrner Syndrome
Depression, Reduced social reciprocity, Protruding ear, Attention deficit hyperactivity disorder,... OMIM:618798
Cone-Rod Dystrophy 8
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia OMIM:605549
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Photophobia, Visual impairment, Visual loss OMIM:301220
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer OMIM:620443
Hyperlysinemia
Tip-toe gait, Short attention span, Dysmetria, Tremor, Opisthotonus, Hyperactivity, Short stature... ORPHA:2203
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment ORPHA:1000
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Obesity, Recurrent hand flapping, Tremor, Aggressive behavior, Attention deficit hy... OMIM:619680
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Emotional labil... OMIM:620330
Lichen Planopilaris
Skin ulcer ORPHA:525
Leber Congenital Amaurosis 15
Color vision defect, Photophobia, Constriction of peripheral visual field, Eye poking, Reduced vi... OMIM:613843
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Morgagni-Stewart-Morel Syndrome
Action tremor, Obesity, Memory impairment, Cognitive impairment ORPHA:77296
Cockayne Syndrome Type 1
Photophobia, Visual impairment, Failure to thrive, Ataxia ORPHA:90321
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Combined Oxidative Phosphorylation Defect Type 23
Cognitive impairment, Abnormal thalamic MRI signal intensity ORPHA:444013
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Short stature OMIM:618027
Autoinflammation With Arthritis And Dyskeratosis
Photophobia, Failure to thrive OMIM:617388
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Hearing impairment, Decreased nerve conduction velocity, Distal sensory impairment, Sens... OMIM:609136
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Tip-toe gait, Hand mu... ORPHA:99956
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... OMIM:147250
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity ORPHA:370091
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Akinesia ORPHA:994
Albinism, Ocular, Type I
Photophobia, Reduced visual acuity OMIM:300500
Wiedemann-Steiner Syndrome
Rhizomelia, Postnatal growth retardation, Intrauterine growth retardation, Short attention span, ... ORPHA:319182
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Photophobia OMIM:618535
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Low-set ears, Cerebellar vermis hypoplasia, Wide nasal bridge, Fusion of the left and right thala... OMIM:619306
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Epithelial Recurrent Erosion Dystrophy
Photophobia, Progressive visual loss, Blurred vision ORPHA:293381
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Boutonneuse Fever
Photophobia ORPHA:83313
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Seizure OMIM:617682
Cone-Rod Dystrophy 6
Dyschromatopsia, Peripheral visual field loss, Progressive night blindness, Reduced visual acuity... OMIM:601777
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Lattice Corneal Dystrophy Type I
Slow decrease in visual acuity, High myopia, Visual loss, Photophobia ORPHA:98964
Papa Syndrome
Skin ulcer ORPHA:69126
Familial Multiple Nevi Flammei
Skin ulcer, Seizure ORPHA:624
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Failure to thrive, Obsessive-compulsive trait, Skin-picking, Attention ... ORPHA:500055
Rauch-Steindl Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Aggressive behavior, Hyperactivity... OMIM:619695
Sunct Syndrome
Photophobia ORPHA:57145
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum OMIM:616576
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Ataxia ORPHA:2720
Bickerstaff Brainstem Encephalitis
Sensory ataxia, Decreased motor nerve conduction velocity, Confusion, EEG abnormality, Ataxia, Dy... ORPHA:79138
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Impaired temperature sensation, Increased body weigh... ORPHA:398069
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Tremor, Cognitive impairment, Ataxia, Progressive neurologic deterioration, Unsteady gait OMIM:614947
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Severe Early-Childhood-Onset Retinal Dystrophy
Color vision defect, Photophobia, Peripheral visual field loss, Blurred vision, Reduced visual ac... ORPHA:364055
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Seizure, Polymicrogyria ORPHA:500159
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia OMIM:612843
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Focal polymicrogyria, Frequent temper tantrums, Attention deficit hyperact... OMIM:619103
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
X-Linked Recessive Ocular Albinism
Myopia, Visual impairment, Photophobia ORPHA:54
Idiopathic Panuveitis
Abnormality of vision, Blindness, Blurred vision, Vitreous floaters, Reduced visual acuity, Photo... ORPHA:280921
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia OMIM:308800
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency OMIM:618841
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Calciphylaxis
Skin ulcer ORPHA:280062
Musk, Inability To Smell
Anosmia OMIM:254150
Prolidase Deficiency
Petechiae, Skin ulcer, Febrile seizure (within the age range of 3 months to 6 years) OMIM:170100
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, ... OMIM:212066
Alg11-Cdg
Hearing impairment, EEG with burst suppression, Dry skin, Reduced social reciprocity, Opisthotonu... ORPHA:280071
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Reduced visual acuity, Cognitive impairment, Ataxia, Dementia, Photo... ORPHA:167
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Lead Poisoning
Memory impairment, Depression, Somatic sensory dysfunction, Reduced social reciprocity, Attention... ORPHA:330015
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Elevated circulating follicle stimulating hormone level, Abnormality of the sense of smell OMIM:228300
Ichthyosis, Congenital, Autosomal Recessive 11
Photophobia OMIM:602400
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Xeroderma Pigmentosum
Photophobia, Cognitive impairment, Failure to thrive, Ataxia ORPHA:910
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
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
Lujo Hemorrhagic Fever
Confusion, Mental deterioration, Photophobia ORPHA:319213
Wilson Disease
Hand tremor, Dementia, Decreased nerve conduction velocity, Limb dystonia, Tremor, Hypoesthesia, ... OMIM:277900
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Dysphagia, Abn... ORPHA:138
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Micromelia, Inability to walk, Large earlobe, Anteverted nares, Irritabil... ORPHA:1675
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Dysphagia, Ataxia, Dystonia, Growth delay ORPHA:496641
Cryoglobulinemic Vasculitis
Petechiae, Purpura, Skin ulcer ORPHA:91138
Clouston Syndrome
Photophobia OMIM:129500
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Compulsive behaviors OMIM:613174
Incontinentia Pigmenti
Erythema, Deviation of finger, Finger syndactyly, Skin ulcer, Camptodactyly of finger, Abnormal h... ORPHA:464
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ataxia-Telangiectasia-Like Disorder 2
Photophobia, Ataxia OMIM:615919
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Autoimmune Polyendocrinopathy Type 1
Photophobia, Visual impairment ORPHA:3453
Trichothiodystrophy
Photophobia, Myopia, Gait ataxia, Reduced social reciprocity ORPHA:33364
Infantile Nephropathic Cystinosis
Photophobia, Cognitive impairment, Failure to thrive ORPHA:411629
Scrub Typhus
Photophobia ORPHA:83317
Retinitis Punctata Albescens
Peripheral visual field loss, Central scotoma, Progressive night blindness, Progressive visual lo... ORPHA:52427
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Low-set, posteriorly rotated ears, Single transverse palmar crease, S... ORPHA:521426
Giant Cell Arteritis
Ataxia, Epistaxis, Depression, Conductive hearing impairment, Hearing impairment, Skin ulcer, Par... ORPHA:397
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Megalocornea-Intellectual Disability Syndrome
Short stature, Motor stereotypy, Ataxia ORPHA:2479
Argininemia
Postnatal growth retardation, Irritability, Hyperactivity, Anorexia, Spastic gait OMIM:207800
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Visual impairment, Hemeralopia, Dyschromatopsia OMIM:617236
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Seizure ORPHA:659
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Late-Onset Retinal Degeneration
Abnormal best corrected visual acuity test, Visual loss, Nyctalopia, Red-green dyschromatopsia, T... ORPHA:67042
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Abnormal diaphysis morphology, Abnormality of the wrist, Abnormality of the hand, Bra... ORPHA:1657
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Wilson Disease
Failure to thrive, Difficulty walking, Increased body weight, Aggressive behavior, Weight loss, H... ORPHA:905
Trichothiodystrophy 1, Photosensitive
Photophobia, Small for gestational age OMIM:601675
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Chorea, Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Dystonia, Motor ste... ORPHA:522077
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Prolidase Deficiency
Depressed nasal bridge, Depressed nasal ridge, Erythema, Palmoplantar keratoderma, Hearing impair... ORPHA:742
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad thumb, Chiari malformation, Emotional lability, Sensorineural hearing impairment, Social an... ORPHA:353281
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Histidinemia
Hyperactivity ORPHA:2157
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyp... OMIM:614756
Reactive Arthritis
Photophobia, Weight loss, Cognitive impairment ORPHA:29207
Posterior Polymorphous Corneal Dystrophy
Very low visual acuity, Blurred vision, Reduced visual acuity, Amblyopia, Photophobia ORPHA:98973
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Oculocutaneous Albinism Type 4
Photophobia, Reduced visual acuity ORPHA:79435
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Tibial torsion, Difficulty walking, Overlapping toe, 2-3 toe syndactyly, Overfolded... OMIM:618653
Transketolase Deficiency
Self-injurious behavior, Proportionate short stature, Attention deficit hyperactivity disorder, C... ORPHA:488618
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Abnormal thalamus morphology ORPHA:88619
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Cognitive impairment, Exaggerated startle response OMIM:617527
Intellectual Disability, Buenos-Aires Type
Photophobia ORPHA:3079
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Panhypopituitarism, Fusion of the left and right tha... OMIM:610828
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Chediak-Higashi Syndrome
Photophobia, Reduced visual acuity, Ataxia OMIM:214500
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Growth delay, Dysmetria, Reduced social reciprocity, Aggressive behavior... ORPHA:96121
Achromatopsia 2
Reduced visual acuity, Achromatopsia, Nyctalopia, Photophobia, Hemeralopia OMIM:216900
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Seizure ORPHA:454831
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Short stature ORPHA:1001
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Ifap Syndrome 2
Photophobia OMIM:619016
Cockayne Syndrome
Mental deterioration, Somatic sensory dysfunction, Progressive gait ataxia, Cachexia, Progressive... ORPHA:191
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum OMIM:150550
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Intrauterine growth retardation, Death in childhood, Self-mutilation, At... OMIM:619005
Limbal Stem Cell Deficiency
Photophobia, Reduced visual acuity ORPHA:171673
Monosomy 22Q13.3
Wide nasal bridge, Impaired pain sensation, Hearing impairment, Bruxism, Bulbous nose, Clinodacty... ORPHA:48652
Congenital Microcoria
Blindness, Blurred vision, Axial myopia, Nyctalopia, Photophobia, Visual impairment, Hemeralopia ORPHA:566
Hermansky-Pudlak Syndrome 11
Photophobia, Reduced visual acuity OMIM:619172
Fuchs Heterochromic Iridocyclitis
Abnormal best corrected visual acuity test, Best corrected visual acuity 0.1 LogMAR, Blurred visi... ORPHA:263479
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia OMIM:620451
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Growth delay, Somatic sensory dysfunction, Painless fractures ... ORPHA:642
Gorlin Syndrome
Wide nasal bridge, Palmar pits, Abnormality of the sense of smell, Arachnodactyly, Brachydactyly ORPHA:377
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema OMIM:608068
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Broad thumb, Chiari malformation, Emotional lability, Sensorineural hearing impairm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Broad thumb, Chiari malformation, Emotional lability, Sensorineural hearing impairm... ORPHA:353277
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Frequent temper tantrums, Short attenti... OMIM:619575
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Conductive hearing impairment, Chronic rhinitis, Chronic otitis media OMIM:244400
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura ORPHA:49566
Occipital Horn Syndrome
Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Aplasia/hypoplas... ORPHA:198
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Blindness OMIM:203300
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Lateral ventricle dilatation, Genu valgum, Polyphagia, Motor stereotypy... OMIM:615873
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Ermine Phenotype
Photophobia ORPHA:999
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia OMIM:619755
Bainbridge-Ropers Syndrome
Self-injurious behavior, Growth delay, Inability to walk, Intrauterine growth retardation, Recurr... OMIM:615485
Hermansky-Pudlak Syndrome
Weight loss, Amblyopia, Myopia, Visual impairment, Photophobia ORPHA:79430
Mucopolysaccharidosis, Type Vii
Photophobia, Visual impairment OMIM:253220
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Inappropriate laughter, Motor stereotypy OMIM:615802
Granular Corneal Dystrophy Type I
Photophobia, Reduced visual acuity, Visual impairment ORPHA:98962
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity ORPHA:309155
Chikungunya
Depression, Paresthesia, Photophobia ORPHA:324625
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Dominant Beta-Thalassemia
Pallor, Skin ulcer, Irritability ORPHA:231226
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Adnp Syndrome
Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Polyphagia, Abnormal finger morphology, Pol... ORPHA:404448
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Acra... OMIM:256840
Cystinosis, Nephropathic
Failure to thrive, Failure to thrive in infancy, Blindness, Reduced visual acuity, Weight loss, P... OMIM:219800
Van Esch-O'Driscoll Syndrome
Growth delay, Intrauterine growth retardation, Attention deficit hyperactivity disorder, Excessiv... OMIM:301030
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Prominent nasal... ORPHA:401973
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Exaggerated startle response, Cerebellar cyst... OMIM:253800
Vernal Keratoconjunctivitis
Photophobia, Reduced visual acuity ORPHA:70476
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Legius Syndrome
Short attention span, Attention deficit hyperactivity disorder, Cognitive impairment, Hyperactivi... ORPHA:137605
Catastrophic Antiphospholipid Syndrome
Dementia, Chorea, Skin ulcer ORPHA:464343
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Aggressive behavior, Increased body weight OMIM:300860
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Seizure ORPHA:1334
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Depressed nasal bridge, Hand clenching, Elbow flexion contracture, Anteverted nares... OMIM:617301
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Painless fractures due to injury, Decreased nerve conduction velocity, Autoa... OMIM:201300
Alstrom Syndrome
Constriction of peripheral visual field, Obesity, Blindness, Visual loss, Truncal obesity, Photop... OMIM:203800
Albinism, Oculocutaneous, Type Ia
Myopia, Reduced visual acuity, Visual impairment, Photophobia OMIM:203100
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Photophobia, Hypermetropia, Cognitive impairment ORPHA:90324
Oculocutaneous Albinism Type 1B
Photophobia, Visual impairment ORPHA:79434
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Seizure ORPHA:261144
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia, Talipes equinovarus, Abnormal pinna morphology ORPHA:251066
Reynolds Syndrome
Dysphagia, Skin ulcer ORPHA:779
Oculocutaneous Albinism Type 1A
Photophobia, Visual impairment ORPHA:79431
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin vesicle, Skin ulcer ORPHA:2314
Lymphedema-Distichiasis Syndrome
Photophobia ORPHA:33001
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration, Emotional lability OMIM:256800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Short humerus, Irritability, Tapered finger, EE... OMIM:618367
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Lacrimoauriculodentodigital Syndrome
Low-set ears, Choanal atresia, Anosmia, Toe syndactyly, Cupped ear, Conductive hearing impairment... ORPHA:2363
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Short stature, T... OMIM:617330
Werner Syndrome
Small hand, Skin ulcer, Lack of skin elasticity, Convex nasal ridge, Rocker bottom foot ORPHA:902
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Leopard Syndrome 1
Low-set ears, Depressed nasal ridge, Sensorineural hearing impairment, Protruding ear, Limited el... OMIM:151100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Tremor, Exaggerated startle response OMIM:620327
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Photophobia, Hypermetropia, Failure to thrive ORPHA:79396
Stevens-Johnson Syndrome
Photophobia, Weight loss, Visual impairment ORPHA:36426
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Exaggerated startle response OMIM:608800
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Primary Sjögren Syndrome
Depression, Somatic sensory dysfunction, Skin ulcer, Dry skin, Chorea, Abnormal cerebellum morpho... ORPHA:289390
Macular Corneal Dystrophy
Photophobia, Severely reduced visual acuity ORPHA:98969
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Seizure OMIM:610253
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Cystinosis, Adult Nonnephropathic
Photophobia OMIM:219750
Beta-Thalassemia Major
Pallor, Skin ulcer, Irritability ORPHA:231214
Toxic Epidermal Necrolysis
Photophobia, Weight loss, Visual loss ORPHA:537
Parkes Weber Syndrome
Dural ectasia, Myelopathy, Somatic sensory dysfunction, Abnormal femoral metaphysis morphology, S... ORPHA:90307
Kid Syndrome
Photophobia, Visual loss, Failure to thrive ORPHA:477
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Sotos Syndrome
Tall stature, Increased body weight, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:117550
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Low-set ears, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Adducted thumb, Abno... ORPHA:2570
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hajdu-Cheney Syndrome
Low-set ears, Wide nasal bridge, Short distal phalanx of finger, Chiari malformation, Hearing imp... ORPHA:955
Coccidioidomycosis
Photophobia, Blurred vision, Cognitive impairment ORPHA:228123
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Gait ataxia OMIM:610954
Xeroderma Pigmentosum, Variant Type
Photophobia OMIM:278750
Diffuse Cutaneous Systemic Sclerosis
Dysphagia, Skin ulcer ORPHA:220393
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Intrauterine growth retardation, Attention deficit hyperactivity disorder, Gait disturbance, Birt... ORPHA:464311
Hermansky-Pudlak Syndrome 2
Photophobia, Reduced visual acuity OMIM:608233
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Xeroderma Pigmentosum, Complementation Group E
Photophobia OMIM:278740
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin... ORPHA:529808
Waardenburg Syndrome, Type 2E
Anosmia, Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear... OMIM:611584
Pgm3-Cdg
Skin ulcer, Seizure, Myoclonus, Ataxia, Cortical myoclonus ORPHA:443811
Hereditary Spherocytosis
Pallor, Skin ulcer, Ataxia ORPHA:822
Cushing Disease
Memory impairment, Depression, Skin ulcer, Striae distensae, Emotional lability, Ecchymosis, Fati... ORPHA:96253
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia, Sensorineural hearing impairment ORPHA:2326
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Seizure, Anorexia, Purpura ORPHA:761
Duplication Of The Pituitary Gland
Hearing impairment, Self-mutilation, Agenesis of corpus callosum, Abnormal hypothalamus morpholog... ORPHA:314621
Mucopolysaccharidosis Type 2
Mental deterioration, Abnormal temper tantrums, Growth delay, Short attention span, Oppositional ... ORPHA:580
Pheochromocytoma
Hypercalcemia OMIM:171300
Xeroderma Pigmentosum, Complementation Group C
Photophobia OMIM:278720
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Photophobia OMIM:219900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Corneodermatoosseous Syndrome
Photophobia, Hemeralopia, Nyctalopia ORPHA:3194
Crimean-Congo Hemorrhagic Fever
Photophobia, Confusion, Emotional lability ORPHA:99827
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Photophobia OMIM:609944
Microscopic Polyangiitis
Erythema, Skin ulcer ORPHA:727
Rift Valley Fever
Scotoma, Photophobia, Reduced visual acuity ORPHA:319251
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Seizure, EEG with central focal spikes, Aggressive behavior, Motor stereotypy, EEG with occipital... OMIM:301066
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Disproportionate short stature, Motor stereotypy ORPHA:508533
Livedoid Vasculopathy
Macular purpura, Skin ulcer, Ecchymosis ORPHA:542643
Gapo Syndrome
Photophobia OMIM:230740
Cancer-Associated Retinopathy
Dyschromatopsia, Constriction of peripheral visual field, Visual loss, Central scotoma, Reduced v... ORPHA:71505
Neuropathy, Hereditary Sensory And Autonomic, Type V
Pain insensitivity, Impaired vibratory sensation, Impaired pain sensation, Painless fractures due... OMIM:608654
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Thalamic edema, Opisthotonus, Lethargy, Inf... ORPHA:2177
Leukonychia Totalis
Photophobia ORPHA:2387
Infantile Systemic Hyalinosis
Micromelia, Skin ulcer, Camptodactyly of finger, Brachydactyly, Short palm ORPHA:2176
Williams Syndrome
Chiari malformation, Genu valgum, Overfriendliness, Sensorineural hearing impairment, Radioulnar ... ORPHA:904
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Memory impairment, Cognitive impairment, Abdominal obesity ORPHA:189427
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Skin ulcer, Low-set, posteriorly rotated ears, Genu valgum, ... ORPHA:534
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Charge Syndrome
Low-set ears, Sensorineural hearing impairment, Absent radius, Bilateral talipes equinovarus, Han... OMIM:214800
Hermansky-Pudlak Syndrome 6
Photophobia, Reduced visual acuity, Amblyopia OMIM:614075
Meige Disease
Skin ulcer ORPHA:90186
Kleefstra Syndrome
Self-injurious behavior, Seizure, Self-mutilation, Aggressive behavior, Motor stereotypy ORPHA:261494
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Mental deterioration, Failure to thrive, Dementia, Myopia, Photophobia ORPHA:2273
Oculocutaneous Albinism Type 2
Photophobia, Reduced visual acuity ORPHA:79432
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depressed nasal bridge, Recurrent upper respiratory tract infections, De... ORPHA:293987
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Lateral ventricle dilatation, Sensorineural hearing impairment,... OMIM:607872
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Atopic Keratoconjunctivitis
Photophobia, Blurred vision ORPHA:163934
Juvenile Dermatomyositis
Erythema, Dysphagia, Skin ulcer, Dry skin ORPHA:93672
Lymphedema-Distichiasis Syndrome
Photophobia OMIM:153400
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal conus terminalis morphology, Osteolysis involving bones of the upper limbs, Osteolysis i... ORPHA:464321
Odontoonychodermal Dysplasia
Photophobia OMIM:257980
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Broad toe, Long nose, Short foot, Motor stereotypy, Dysphagia, Short nose, Abnormal... OMIM:619522
Gm1 Gangliosidosis Type 1
Low-set ears, Depressed nasal bridge, Flattened femoral head, Broad nasal tip, Hearing impairment... ORPHA:79255
Corneal Dystrophy, Posterior Polymorphous, 1
Photophobia OMIM:122000
Addison Disease
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:85138
Cogan Syndrome
Photophobia, Reduced visual acuity, Blindness ORPHA:1467
Dyrk1A-Related Intellectual Disability Syndrome
Intrauterine growth retardation, Gait disturbance, Hyperactivity, Short stature, Motor stereotypy ORPHA:464306
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Absent nares, Single naris, Hyposmia ORPHA:2250
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Brachydactyly, Macrotia, Ataxia ORPHA:168577
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Seizure, Polymicrogyria, Periventricular heterotopia, Pachygyria, Motor ... ORPHA:468631
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Choanal atresia, Anosmia, Conductive hearing impairment, Atresia of the external a... OMIM:603457
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Recurrent otitis media, Recurrent sinusitis, Ataxia, Purpura, Agitation OMIM:615688
Microcephalic osteodysplastic primordial dwarfism, type III
Photophobia, Hypermetropia OMIM:210730
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit... OMIM:619512
Eec Syndrome
Photophobia ORPHA:1896
Digeorge Syndrome
Hypocalcemia OMIM:188400
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Broad-based gait, Skin ulcer, Limb ataxia, Ecchymosis, Bilateral tonic-... ORPHA:2072
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizure, Multi... OMIM:301044
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Photophobia, Depression, Visual loss, Blindness ORPHA:95455
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Skin ulcer, Seizure, Dry skin, Scaling skin, Status epilepticus ORPHA:2526
Kinsship Syndrome
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Moto... OMIM:619297
Hereditary Acrokeratotic Poikiloderma
Erythema, Finger syndactyly, Hearing impairment, Camptodactyly of finger, Skin ulcer, Abnormal me... ORPHA:2907
Amoebic Keratitis
Photophobia ORPHA:67043
Chime Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Erythem... ORPHA:3474
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Motor stereotypy, Growth delay OMIM:301040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Stereotypical hand wringing, Exaggerated startle response, S... ORPHA:438213
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Motor ... ORPHA:513456
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Cornelia De Lange Syndrome 6
Low-set ears, Short 1st metacarpal, Anteverted nares, Hair-pulling, Arachnodactyly, Short palm, S... OMIM:620568
Sarcoidosis, Susceptibility To, 1
Photophobia, Weight loss, Blurred vision OMIM:181000
Mowat-Wilson Syndrome
Broad-based gait, Recurrent otitis media, Enlarged cerebellum, Genu valgum, Sensorineural hearing... ORPHA:2152
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Arboleda-Tham Syndrome
Growth delay, Intrauterine growth retardation, Gait imbalance, Dysphagia, Dystonia, Motor stereotypy OMIM:616268
Simple Cryoglobulinemia
Spontaneous pain sensation, Paresthesia, Acral ulceration, Progressive neurologic deterioration, ... ORPHA:91139
Plague
Depression, Hearing impairment, Skin ulcer, Dry skin, Anorexia, Delirium, Unsteady gait, Abnormal... ORPHA:707
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Dyskeratosis Congenita
Palmoplantar keratoderma, Skin ulcer, Hearing impairment, Coarse metaphyseal trabecularization, S... ORPHA:1775
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Painless fractures due to injury, Autoamputation of digits,... OMIM:256810
Alacrima, Congenital, Autosomal Dominant
Photophobia OMIM:103420
Ogden Syndrome
Growth delay, Postnatal growth retardation, Intrauterine growth retardation, Irritability, Dyspha... OMIM:300855
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Systemic Sclerosis
Finger swelling, Abnormal phalangeal joint morphology of the hand, Digital ulcer, Acral ulceratio... ORPHA:90291
Isolated Congenital Alacrima
Photophobia ORPHA:91416
Hereditary Elliptocytosis
Skin ulcer ORPHA:288
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Sympathetic Ophthalmia
Photophobia, Reduced visual acuity, Vitreous floaters ORPHA:79098
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia OMIM:604292
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Photophobia ORPHA:1010
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Photophobia OMIM:129900
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Depression, Skin ulcer, Striae distensae, Emotional lability, Ecchymosis, Fati... ORPHA:99889
Wiskott-Aldrich Syndrome
Epistaxis, Skin ulcer, Otitis media, Petechiae, Purpura, Chronic otitis media ORPHA:906
Phacoanaphylactic Uveitis
Photophobia, Visual loss, Blurred vision ORPHA:209959
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Holoprosencephaly-Caudal Dysgenesis Syndrome
Low-set ears, Abnormal morphology of the radius, Radial club hand, Abnormality of the diencephalon ORPHA:2165
Ppoma
Hypercalcemia ORPHA:97278
Fusariosis
Skin ulcer ORPHA:228119
Dermatomyositis
Erythema, Shawl sign, V-sign, Skin ulcer, Dry skin, Facial erythema, Dysphagia ORPHA:221
Tooth Agenesis, Selective, 4
Photophobia OMIM:150400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Low-set, posteriorly rotated ears, Prominent nasal bridge, Gait ataxia, Reduc... ORPHA:457359
Malakoplakia
Skin ulcer ORPHA:556
Granulomatosis With Polyangiitis
Epistaxis, Abnormality of the nose, Skin ulcer, Otitis media, Sensorineural hearing impairment, P... ORPHA:900
Sweet Syndrome
Pyoderma gangrenosum, Skin vesicle ORPHA:3243
Leprosy
Epistaxis, Dissociated sensory loss, Penetrating foot ulcers, Autoamputation of digits, Impaired ... ORPHA:548
Chronic Graft Versus Host Disease
Photophobia, Weight loss ORPHA:99921
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Delayed p... OMIM:259050
Somatostatinoma
Hypercalcemia ORPHA:97283
Waardenburg Syndrome, Type 4C
Anosmia, Sensorineural hearing impairment OMIM:613266
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Tubulointerstitial Nephritis And Uveitis Syndrome
Photophobia, Weight loss, Visual impairment ORPHA:91500
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Grfoma
Hypercalcemia ORPHA:97261
Norrie Disease
Self-injurious behavior, Abnormal helix morphology, Narrow nasal bridge, Sensorineural hearing im... ORPHA:649
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
1P36 Deletion Syndrome
Self-injurious behavior, Polyphagia, Gait disturbance, Dysphagia, Short stature, Motor stereotypy ORPHA:1606
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Blau Syndrome
Skin ulcer OMIM:186580
Blau Syndrome
Photophobia, Visual loss ORPHA:90340
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Atypical Werner Syndrome
Skin ulcer, Finger clinodactyly, Lack of skin elasticity, Osteolytic defects of the phalanges of ... ORPHA:79474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Motor stereotypy ORPHA:508498
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short stature, Motor stereotypy, Hyperactivity 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
17Q11 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Dural ectasia, Memory impairment, Short attention span, Red... ORPHA:97685
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Alström Syndrome
Somatic sensory dysfunction, Obesity, Blindness, Visual loss, Visual field defect, Cognitive impa... ORPHA:64
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy, Tremor OMIM:612474
Lowe Oculocerebrorenal Syndrome
Short stature, Aggressive behavior, Motor stereotypy, Postnatal growth retardation OMIM:309000
Wolf-Hirschhorn Syndrome
Growth delay, Intrauterine growth retardation, Severe postnatal growth retardation, Short stature... OMIM:194190
Sarcoidosis
Hypercalcemia ORPHA:797
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Photophobia OMIM:308205
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Coffin-Siris Syndrome 12
Short stature, Motor stereotypy OMIM:619325
Hellp Syndrome
Increased body weight ORPHA:244242
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Motor stereotypy, Short st... ORPHA:261537
Sotos Syndrome
Hypercalcemia ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Motor stereotypy, Short st... ORPHA:261552
Leukocyte Adhesion Deficiency
Pyoderma gangrenosum, Seizure ORPHA:2968
Carney Complex
Increased body weight, Tall stature, Abdominal obesity 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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Shank3a/b isoforms regulate the susceptibility to seizures and thalamocortical development in the early postnatal period of mice. Neuroscience research (March 2023) Shank3tm1a(KOMP)Wtsi 36871873
Differentially altered social dominance- and cooperative-like behaviors in Shank2- and Shank3-mutant mice. Molecular autism (October 2020) Shank3tm1d(KOMP)Mbp PMC7602353
Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit. Frontiers in cellular neuroscience (March 2015) Shank3tm1c(KOMP)Mbp Shank3tm1a(KOMP)Mbp Shank3tm1d(KOMP)Mbp PMC4365696

Order Mouse and ES Cells

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

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