Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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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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

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Human diseases caused by Shank3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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
Depression, Attention deficit hyperactivity disorder OMIM:613003
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Major Depressive Disorder
Depression OMIM:608516
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300425
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Autism
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:607373
Schizophrenia 15
Hyperactivity OMIM:613950
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Emotional lability, Bilateral tonic-clonic seizure, Status epilepticus, Motor stereoty... OMIM:617171
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Aggressive behavior, 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)
Hyperactivity, Short attention span DECIPHER:19
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Bilateral tonic-clonic seizure, Inflexible adherence to routines, ... OMIM:608636
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300495
Adamantinoma
Hypercalcemia ORPHA:55881
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Decreased body weight, Short attention span, Unsteady gait, Mot... OMIM:614063
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Tremor,... ORPHA:98764
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Manganese Poisoning
Bradykinesia, Irritability, Akinesia, Memory impairment, Depression, Emotional lability, Confusio... ORPHA:306682
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Motor ste... OMIM:616341
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Hyperprolinemia, Type I
Hyperactivity, Seizure, Status epilepticus, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bi... OMIM:616056
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Focal-onset seizure, Seizure, Inappropriate laughter, Motor stereotypy, Focal motor status epilep... OMIM:619150
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Seizure, Status epilepticus, Motor stereotypy OMIM:617830
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Perry Syndrome
Inappropriate behavior, Bradykinesia, Akinesia, Frontotemporal dementia, Depression, Tremor, Dyst... OMIM:168605
Huntington Disease
Chorea, Choking episodes, Bradyphrenia, Aggressive behavior, Irritability, Agitation, Difficulty ... ORPHA:399
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior OMIM:617820
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema ORPHA:2337
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Short stature, Dysphagia, Motor stereotyp... OMIM:617862
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Frontotemporal dementia, Memory impairment, Gait disturbance, Dystonia, D... OMIM:600795
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Posterior Cortical Atrophy
Color vision defect, Photophobia, Memory impairment, Confusion, Abnormality of vision, Cerebral v... ORPHA:54247
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Foxg1 Syndrome
Difficulty walking, Inability to walk, Severe postnatal growth retardation, Stereotypical hand wr... ORPHA:561854
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Kinetic tremor, Reduced social reciprocity OMIM:611092
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Short stature, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Hartnup Disorder
Emotional lability, Hyperactivity, Episodic ataxia, Short stature, Attention deficit hyperactivit... OMIM:234500
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Progressive language deterioration, Reduced social recipro... ORPHA:168782
Developmental And Epileptic Encephalopathy 107
Seizure, Clonic seizure, Tonic seizure, Motor stereotypy OMIM:620033
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior, Tremor, Short attention span, Gait distur... ORPHA:391417
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Cerebellar calcifications, Chorea, Athetosis, Thalamic calcificati... OMIM:615483
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Impulsivity, Intention tremor, Gait ataxia,... OMIM:607454
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:608049
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Recurrent... OMIM:618141
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Exa... ORPHA:309246
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Ataxia, Reduced visual ... OMIM:616732
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Intrauterine growth retardation, Aggressive behavior OMIM:620270
Pick Disease Of Brain
Irritability, Emotional blunting, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereo... OMIM:172700
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Polymicrogyria, Seizure, Motor stereotypy, Self-injurious behavior, Clonic seizure OMIM:615282
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Memory impairment, Chorea, Thalamic calcification, Cerebellar dentate nucleus calci... OMIM:618317
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Idiopathic Intracranial Hypertension
Abnormal emotion, Visual loss, Photophobia, Depression, Obesity, Blurred vision, Scintillating sc... ORPHA:238624
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Seizure, Periventricular nodular heterotopia, Motor ste... OMIM:620065
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Dystonia, Dementia, Mental deterioration, Aggressive behavior OMIM:300894
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration OMIM:615924
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Stereotypical hand wringing, Convulsive status epilepticus, Self-injurious b... OMIM:618760
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Torticollis, Hyposmia, Head tremor, Intention tremor, Hear... OMIM:613724
Corticobasal Syndrome
Bradykinesia, Akinesia, Memory impairment, Tremor, Gait disturbance, Limb dystonia, Dystonia, Dem... ORPHA:454887
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Falls, Tremor, Blepharospasm, Neuromuscul... ORPHA:240071
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Delayed early-childhood social milestone development, Tremor, G... OMIM:618090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Usher Syndrome, Type Iiib
Visual impairment, Truncal ataxia, 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, Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Foc... ORPHA:208441
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Kufor-Rakeb Syndrome
Bradykinesia, Akinesia, Distal sensory impairment, Torticollis, Tremor, Gait disturbance, Dystoni... OMIM:606693
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Prolonged Electroretinal Response Suppression 1
Difficulty adjusting to changes in luminance, Color vision defect, Photophobia, Bradyopsia OMIM:608415
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Abn... ORPHA:300570
Landau-Kleffner Syndrome
Steppage gait, Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention ... ORPHA:98818
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Bradykinesia, Cerebellar calcifications, Thalamic calcification, Limb dystonia, Gene... OMIM:618824
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Falls, Memory impairment, Depression, Emotional lability, Tremor, Ble... ORPHA:683
Kleine-Levin Syndrome
Irritability, Photophobia, Transient global amnesia, Depression, Confusion, Cognitive impairment,... ORPHA:33543
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Abnormality of pattern visual evoked potentials, Inability to walk, Cere... ORPHA:1947
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Par... OMIM:618718
Blue Cone Monochromacy
Photophobia, Reduced visual acuity, Blue cone monochromacy, Myopia, Visual impairment OMIM:303700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Prolonged Electroretinal Response Suppression 2
Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced visual acuity... OMIM:620344
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity, Intention tremor ORPHA:137831
Tritanopia
Reduced visual acuity, Tritanomaly, Color vision test abnormality, Photophobia ORPHA:88629
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Failure to thrive in infancy, Mo... OMIM:613670
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Blepharospasm, Unsteady gait, Loss of ambulati... ORPHA:240094
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Myoclonus, Aggressive beha... ORPHA:168491
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Tonic seizure, ... OMIM:617393
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Tremor, Dystonia, Ataxia ORPHA:599373
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni... ORPHA:98807
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Bradykinesia, Resting tremor, Depression, Dysdiadochokinesis, Tremor, Compulsive beh... OMIM:615157
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Agitation, Akinesia, Resting tremor, Depression, Low frustration tolerance, Shuffli... ORPHA:411602
Mohr-Tranebjaerg Syndrome
Constriction of peripheral visual field, Photophobia, Mental deterioration, Cerebral visual impai... OMIM:304700
Corneal Dystrophy, Gelatinous Drop-Like
Visual impairment, Reduced visual acuity, Photophobia, Blurred vision OMIM:204870
Cdkl5-Deficiency Disorder
Difficulty walking, Impaired pain sensation, Gait disturbance, Stereotypical hand wringing, Growt... ORPHA:505652
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Impair... ORPHA:3095
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive behavior OMIM:301107
Cone Dystrophy 4
Visual impairment, Reduced visual acuity, Photophobia, Dyschromatopsia OMIM:613093
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Tremor, Action tremor, Growth delay, Dystonia, Ataxia, Dysphagia, Reduced soc... OMIM:619738
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Akinesia, Memory impairment, Resting tremor, Dysdiadochokinesis... ORPHA:247234
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Depression, Dysdiadochokine... ORPHA:254881
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Achromatopsia 4
Visual impairment, Achromatopsia, Photophobia OMIM:613856
Lennox-Gastaut Syndrome
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Obesity, Inappropriate laughte... ORPHA:411515
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Congenital stationary night blindness, Color vision defect, Photophobia, Visual impairment OMIM:610427
Macular Dystrophy, Vitelliform, 3
Color vision defect, Photophobia, Reduced visual acuity, Metamorphopsia, Visual impairment OMIM:608161
Intellectual Developmental Disorder, X-Linked 108
Attention deficit hyperactivity disorder, Overweight, Difficulty walking, Broad-based gait OMIM:301024
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Waddling gait, Excessive shyness, Short stature, Dystonia, Motor stereotypy ORPHA:280763
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Death in infancy, Restlessness, Lethargy, Aggressive be... OMIM:605899
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Photophobia, Dyschromatopsia OMIM:618977
Cone-Rod Dystrophy 13
Visual impairment, Color vision defect, Reduced visual acuity, Photophobia OMIM:608194
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Tremor, Cognitive impairment, Gait ataxia ORPHA:98773
Migraine, Familial Hemiplegic, 3
Phonophobia, Blindness, Photophobia OMIM:609634
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Short stature, Ataxia, Dysp... OMIM:617695
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Memory impairment, Gait disturbance, Disinhibition, Dementia, EEG abnorm... OMIM:618193
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Polymicrogyria, Seizure, Stereotypical hand wringing, Myoclonic seizure, Inappro... OMIM:614254
Achromatopsia
Color vision defect, Color vision test abnormality, Photophobia, Hypermetropia, Central scotoma, ... ORPHA:49382
Postencephalitic Parkinsonism
Bradykinesia, Akinesia, Oculogyric crisis, Resting tremor, Depression, Tremor by anatomical site,... ORPHA:97349
Optic Atrophy 15
Dyschromatopsia, Reduced visual acuity, Photophobia, Central scotoma OMIM:620583
Baker-Gordon Syndrome
Inability to walk, Dystonia, Ataxia, Motor stereotypy, Self-injurious behavior, Choreoathetosis OMIM:618218
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Reduced visual acuity, Photophobia OMIM:618970
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal social behav... 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
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Achromatopsia 7
Reduced visual acuity, Achromatopsia, Photophobia, Central scotoma OMIM:616517
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Aggressive behavior OMIM:300983
Cone-Rod Dystrophy 5
Color vision defect, Reduced visual acuity, Photophobia, Central scotoma OMIM:600977
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Intention tremor, Dystonia, Ataxia, Motor stereotypy, Motor... OMIM:619725
Progressive Cone Dystrophy
Visual impairment, Color vision defect, Photophobia ORPHA:1871
Cone-Rod Dystrophy 17
Visual impairment, Photophobia, Central scotoma OMIM:615163
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Ataxia, Dis... ORPHA:1020
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Cognitive impairment, Obesity, Dystonia, Ataxia, Somatic sensory dysfunction ORPHA:459033
Cone Dystrophy 3
Reduced visual acuity, Progressive visual loss, Photophobia OMIM:602093
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
Young-Onset Parkinson Disease
Bradykinesia, Agitation, Gait imbalance, Depression, Hyposmia, Tremor, Short attention span, Impu... ORPHA:2828
Babesiosis
Depression, Confusion, Photophobia ORPHA:108
Episodic Ataxia Type 6
Photophobia, Phonophobia, Ataxia, Reduced visual acuity, Diplopia ORPHA:209967
Retinal Cone Dystrophy 1
Color vision defect, Progressive visual loss, Photophobia OMIM:180020
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Photophobia, Reduced visual acuity, Myopia, Visual impairment, Nyctalopia OMIM:304020
Blue Cone Monochromatism
Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Dyston... OMIM:618917
Optic Atrophy 6
Visual impairment, Red-green dyschromatopsia, Photophobia OMIM:258500
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Tremor, Dystonia, Unsteady gait, Dysphagia, Motor stereotypy, Bruxism OMIM:617435
Bradyopsia
Visual impairment, Photophobia ORPHA:75374
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Abnormal thalamus morphology, Compulsive behaviors, C... ORPHA:397725
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Failure to thrive, Motor stereotypy, Small for gestational age, Aggre... OMIM:609425
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Photophobia, Pericentral scotoma, Reduced visual acuity, Myopia, Ny... OMIM:620342
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Dystonia,... ORPHA:391411
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Tongue thrusting, Emotional lability, Recurrent hand flapping, Short attention... OMIM:619580
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy 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
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Albinism, Oculocutaneous, Type Vi
Visual impairment, Reduced visual acuity, Photophobia OMIM:113750
Neuroferritinopathy
Bradykinesia, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Difficulty walking... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Stereotypical hand wringing, Gait disturbance, Short stature, Inappropriate laught... OMIM:614104
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Cone Rod Dystrophy
Visual impairment, Color vision defect, Photophobia, Nyctalopia ORPHA:1872
Cone-Rod Dystrophy And Hearing Loss 2
Reduced visual acuity, Photophobia OMIM:618358
Leber Congenital Amaurosis 16
Photophobia, Visual field defect, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:614186
Christianson Syndrome
Death in early adulthood, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dystonia, Dysphagi... ORPHA:85278
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
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
Nyctalopia, Reduced visual acuity, Photophobia, Central scotoma OMIM:616079
Night Blindness, Congenital Stationary, Type 1H
Mild myopia, Nyctalopia, Photophobia, Hypermetropia OMIM:617024
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Broad-based gait, Short attention span, Impulsivity, Dystonia, A... OMIM:617854
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Depression, Emotional lability, Cerebellar atrophy, Interi... ORPHA:79264
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Impaired vibration sensation in the lower limbs, Impaired distal vibr... OMIM:604360
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Spinocerebellar Ataxia Type 29
Delayed early-childhood social milestone development, Dysdiadochokinesis, Gait ataxia, Cognitive ... ORPHA:208513
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Sensorineural hearing impairment, Abnormal thalamus morphology, Thick... ORPHA:557003
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity, Photophobia OMIM:617879
Myoclonic-Astatic Epilepsy
Abnormal emotion, Premature skin wrinkling, EEG with polyspike wave complexes, Interictal epilept... ORPHA:1942
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Visual impairment, Photophobia OMIM:300650
Xq28 (MECP2) duplication
Death in childhood, Inability to walk, Depression, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Recurrent hand flapping, Gait ... ORPHA:544254
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Bradykinesia, Akinesia, Dementia, Hyperactivity, Depression, Tremor, ... OMIM:234200
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Mucolipidosis Iv
Visual impairment, Progressive neurologic deterioration, Photophobia OMIM:252650
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Memory impairment, Hyperactivity, Attention de... OMIM:619827
Albinism, Oculocutaneous, Type Ib
Visual impairment, Photophobia OMIM:606952
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, Photophobia, Reduced visual acuity, Myopia, Nyctalopia OMIM:610356
Cone-Rod Dystrophy 22
Reduced visual acuity, Photophobia OMIM:619531
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Photophobia OMIM:610381
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Progressive visual los... OMIM:613660
Postorgasmic Illness Syndrome
Depression, Irritability, Photophobia, Blurred vision ORPHA:279947
Cach Syndrome
Limb ataxia, Irritability, T2 hypointense thalamus, Cerebellar vermis atrophy, Truncal ataxia, Ce... ORPHA:135
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Waddling gait, Impulsivity, Gait ataxia, Short stature, Self-mutilation, P... OMIM:620445
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Emotional lability, Confusion, Cognitive impairment, Ataxia, Motor stereotypy, Deliriu... ORPHA:927
Episodic Ataxia, Type 6
Photophobia, Truncal ataxia, Episodic ataxia, Phonophobia, Diplopia OMIM:612656
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Achromatopsia 3
Achromatopsia, Photophobia, Monochromacy, High myopia, Dyschromatopsia, Severely reduced visual a... OMIM:262300
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Or... ORPHA:208447
Cone-Rod Dystrophy 21
Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Chorea, Impaired pain sensation, Impulsivity, Gait ataxia, Dyst... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... OMIM:615516
Supranuclear Palsy, Progressive, 2
Bradykinesia, Irritability, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Memory ... OMIM:609454
Retinal Cone Dystrophy 4
Constriction of peripheral visual field, Reduced visual acuity, Photophobia, Visual impairment OMIM:610478
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Broad-based gait, Waddling gait, Obesity, Dystonia, Ataxia OMIM:616756
Infantile Krabbe Disease
Irritability, Visual loss, Photophobia, Cachexia, Hyperesthesia, Blindness, Failure to thrive, Pr... ORPHA:206436
Leber Congenital Amaurosis 2
Photophobia, Eye poking, Reduced visual acuity, Blindness, Nyctalopia OMIM:204100
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, EEG with spike-wave complexes, Confusion, Interictal EEG ... ORPHA:363558
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Short stature, Growth delay, Ataxia, Motor stereotypy, Self-injurious ... ORPHA:228402
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Chorea, Short attention span, Exaggerated startle response, Shor... OMIM:617864
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Increased body weight, Tremor, Progressive neurologic deterioration, Lethargy ORPHA:276608
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy, Mild... ORPHA:530983
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Albinism, Oculocutaneous, Type V
Photophobia OMIM:615312
Rasmussen Subacute Encephalitis
Irritability, Inability to walk, Memory impairment, Emotional lability, Hyperactivity, Cognitive ... ORPHA:1929
Leber Congenital Amaurosis 14
Congenital blindness, Reduced visual acuity, Photophobia, Nyctalopia OMIM:613341
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Dystonia, Postural tremor OMIM:619911
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Generalized tonic seizure, Hypsarrhythmia, Infantile spa... ORPHA:411986
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Photophobia, Central scotoma, Reduced visual acuity, Myopia, Visual impairment OMIM:300476
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres... OMIM:301029
Epithelial Recurrent Erosion Dystrophy
Visual impairment, Photophobia OMIM:122400
Hartnup Disease
Emotional lability, Abnormality of vision, Ataxia, Photophobia ORPHA:2116
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonic seizure, Simplified gy... OMIM:619877
Supranuclear Palsy, Progressive, 1
Bradykinesia, Irritability, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Memory ... 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
High hypermetropia, Severely reduced visual acuity, Photophobia OMIM:613826
Leber Congenital Amaurosis 1
Photophobia, Eye poking, Reduced visual acuity, Blindness, Nyctalopia OMIM:204000
Macular Dystrophy, Corneal
Photophobia OMIM:217800
Cone-Rod Dystrophy 16
Nyctalopia, Reduced visual acuity, Photophobia, Progressive visual loss OMIM:614500
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Japanese Encephalitis
Pill-rolling tremor, Focal T2 hyperintense thalamic lesion, Anorexia, Hyperintensity of MRI T2 si... ORPHA:79139
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Color vision defect, Photophobia, High myopia, Reduced v... OMIM:300029
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Sensorineural hearing impairment, Anosmia, Ectrodactyly, Choanal atresia, Agenesis of c... OMIM:147950
Rett Syndrome
Bradykinesia, Agitation, Difficulty walking, Inability to walk, Stereotypical hand wringing, Gait... ORPHA:778
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Tremor, Short attention span, Short stature, Motor stereotypy, Attention deficit h... OMIM:618342
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Bradykinesia OMIM:614203
Acute Disseminated Encephalomyelitis
Irritability, Abnormal thalamic MRI signal intensity, EEG with focal slow activity, Myelitis, EEG... ORPHA:83597
Microphthalmia, Isolated 5
High hypermetropia, Reduced visual acuity, Photophobia, Nyctalopia OMIM:611040
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Retinitis Pigmentosa 32
Reduced visual acuity, Photophobia, Nyctalopia OMIM:609913
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Reduced visual acuity, Photophobia, Nyctalopia OMIM:617460
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Tremor, Gait disturbance, Short stature, Motor stereotypy, Self-mutilation ORPHA:457240
Leber Congenital Amaurosis 7
Visual impairment, Photophobia OMIM:613829
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Hypoplasia of the pons, Ataxia, Atten... ORPHA:467166
Superficial Siderosis
Limb ataxia, Partial anosmia, Impaired temperature sensation, Memory impairment, Impaired pain se... ORPHA:247245
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Gait disturbance, Impulsivity, Attention deficit hyperactivity disorder, H... ORPHA:589905
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Memory impairment, Chorea, Tremor, Craniofacial dystonia, Ble... ORPHA:48818
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Corneal Dystrophy, Meesmann, 1
Reduced visual acuity, Photophobia OMIM:122100
Retinal Cone Dystrophy 3A
Photophobia, Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia OMIM:610024
Infantile Neuroaxonal Dystrophy
Hyperactivity, Emotional lability, Short attention span, Impulsivity, Gait disturbance, Choking e... ORPHA:35069
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Oculopharyngodistal Myopathy 3
Ataxia, Photophobia OMIM:619473
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Oculocutaneous Albinism, Type Viii
Reduced visual acuity, Photophobia OMIM:619165
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Atrophy/Degeneration involving the spinal cord, Memory im... ORPHA:70595
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Mohr-Tranebjaerg Syndrome
Color vision defect, Visual loss, Photophobia, Central scotoma, Mental deterioration, Cerebral vi... ORPHA:52368
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Agitation, Ataxia, Self-injurious behavior, Aggressive behavior OMIM:616116
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Sensorineural hearing impairment, Anteverted nares, Abnormal thalamu... ORPHA:435638
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Mental deterioration, Chorea... OMIM:610217
Spinocerebellar Ataxia Type 7
Visual loss, Photophobia, Mental deterioration, Dysdiadochokinesis, Hemeralopia, Failure to thriv... ORPHA:94147
Retinitis Pigmentosa 51
Photophobia, High myopia, Obesity, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:613464
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Motor stereotypy OMIM:619092
Childhood Absence Epilepsy
Typical absence seizure, Depression, Myoclonic absence seizure, Limb myoclonus, Bilateral tonic-c... ORPHA:64280
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hypoplasia of the pons, Unsteady gait, Agenesis of corpus c... OMIM:617542
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Recurrent hand flapping, Short... ORPHA:449291
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Postnatal growth retardation, Hyperactivity, Depression, Short attention span, Dysphoria, Motor s... OMIM:620242
Irvan Syndrome
Vitreous floaters, Reduced visual acuity, Photophobia, Blurred vision ORPHA:209943
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Short stature, Self-injurious behavior, Choreoathetosis, Aggres... OMIM:620023
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration, Impaired pain sensation, Gait disturbance, Abnormal spinal cord mor... ORPHA:139578
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Lingual dysto... ORPHA:2388
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hyperactivity, Tremor, Limb dystonia, Gait ataxia, Cogniti... ORPHA:363400
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Depression, Chorea, Compulsive behaviors, Unsteady ... ORPHA:485350
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Boucher-Neuhauser Syndrome
Ataxia, Progressive visual loss, Photophobia, Gait ataxia OMIM:215470
Birdshot Chorioretinopathy
Arcuate scotoma, Visual loss, Photophobia, Vitreous floaters, Blind-spot enlargment, Blurred vision ORPHA:179
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Thiel-Behnke Corneal Dystrophy
Slow decrease in visual acuity, Photophobia ORPHA:98960
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Beta-Thalassemia
Irritability, Pallor, Skin ulcer ORPHA:848
Bardet-Biedl Syndrome 17
Polydactyly, Polydipsia, Mesoaxial polydactyly, Hyposmia, Postaxial hand polydactyly, Anosmia, Sh... OMIM:615994
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Lyme Disease
Memory impairment, Paresthesia, Photophobia, Amaurosis fugax ORPHA:91546
Septo-Optic Dysplasia Spectrum
Polydipsia, Sensorineural hearing impairment, Anterior pituitary hypoplasia, Dry skin, Anosmia, A... ORPHA:3157
Oculocutaneous Albinism Type 6
Reduced visual acuity, Photophobia ORPHA:370097
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Limb dystonia, Dementia, Mental deterioration OMIM:616840
Hydrolethalus
Low-set, posteriorly rotated ears, Low-set ears, Postaxial hand polydactyly, Micromelia, Agenesis... ORPHA:2189
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... OMIM:618067
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Progressive psychomotor deterioration, Abnormal social behavior, Memory impai... ORPHA:309271
Aplasia Cutis Congenita
Skin ulcer, Erythema ORPHA:1114
Leber Congenital Amaurosis 9
Color vision defect, Ultra-low vision with retained light perception, Photophobia, Eye poking, Ul... OMIM:608553
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Stereotypical hand wringing, Progressive language deteri... ORPHA:163681
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Compulsive behaviors, Short stature, Repetitive compulsive behavior, Motor stereot... ORPHA:352490
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Gait disturbance, Short stature, Dystonia, Reduced social reciprocity, Motor st... OMIM:300352
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Short stature, Ataxia... OMIM:615656
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Crouch gait, Intrauterine growth retardation, Gait ataxia OMIM:620145
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Scissor gait, Truncal ataxia, Growth delay, Motor stereotypy, Attention deficit hyp... OMIM:619121
Bardet-Biedl Syndrome 19
Hyposmia, Y-shaped metacarpals, Postaxial polydactyly, Hearing impairment, Mesoaxial hand polydac... OMIM:615996
Hydroa Vacciniforme
Reduced visual acuity, Photophobia ORPHA:330058
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Anteverted nares, 2-3 toe syndactyly, Abnormal thalamus morpholog... ORPHA:404440
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Migraine With Or Without Aura, Susceptibility To, 6
Phonophobia, Photophobia OMIM:607516
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Hereditary Sensory And Autonomic Neuropathy Type 1
Steppage gait, Skin ulcer, Distal sensory impairment, Gait imbalance, Trophic changes related to ... ORPHA:36386
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
48,Xxyy Syndrome
Depression, Tremor, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:10
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Tay-Sachs Disease
Limited elbow extension, Abnormal thalamic MRI signal intensity, Distal upper limb muscle weaknes... ORPHA:845
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Meningococcal Meningitis
Irritability, Photophobia, Paresthesia ORPHA:33475
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Short stature, Ataxia, Motor ste... OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Recurrent hand flapping, Bilateral tonic-... OMIM:617600
Migraine With Or Without Aura, Susceptibility To, 12
Phonophobia, Photophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Phonophobia, Photophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Phonophobia, Photophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Phonophobia, Photophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Phonophobia, Photophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Phonophobia, Photophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Phonophobia, Photophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Phonophobia, Photophobia OMIM:607508
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Chorea, Athetosis, Dystonia, Reduced social reciprocity, Motor st... OMIM:613454
Flynn-Aird Syndrome
Skin ulcer, Impaired pain sensation, Ataxia, Dementia, EEG abnormality, Progressive sensorineural... ORPHA:2047
Obesity Due To Sim1 Deficiency
Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit hyperactivity dis... ORPHA:369873
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615266
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment OMIM:238700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Amoebiasis Due To Free-Living Amoebae
Irritability, Skin ulcer, Hyposmia, Confusion, Abnormal medulla oblongata morphology, Abnormal ce... ORPHA:68
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability, Short attent... ORPHA:309263
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hearing impairment, Hyposmia OMIM:615271
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Depression, Chorea, Hostility, Growth delay, Ataxia, Dysphagia, Motor stereoty... OMIM:300260
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal sensory impairment, Impaired pain sensation, Obesity, Ataxia, Unsteady gait, Loss of ambul... OMIM:618124
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Short stature, Motor stereotypy, Attention ... OMIM:620141
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Restlessnes... ORPHA:100924
Optic Atrophy 11
Hyperactivity, Athetosis, Gait apraxia, Short stature, Stereotypical body rocking, Ataxia, Attent... OMIM:617302
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
Steppage gait, Distal sensory impairment, Positive Romberg sign, Mild neurosensory hearing impair... OMIM:601152
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Dystonia, Motor stereotypy, Self-injurious behavi... OMIM:618004
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Dracunculiasis
Skin ulcer ORPHA:231
Chiari Malformation Type I
Photophobia, Diplopia, Gait ataxia, Hyperacusis, Paresthesia OMIM:118420
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hyperactivity, Emotional lability, Tremor, Gait ataxia, Short stature, Aggressiv... OMIM:300354
Sjögren-Larsson Syndrome
Myopia, Photophobia ORPHA:816
Timothy Syndrome
Hypocalcemia OMIM:601005
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Corneal Dystrophy, Congenital Stromal
Progressive visual loss, Photophobia OMIM:610048
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypsarrhythmia, Decreased thalamic volume, Dysphagia OMIM:613668
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Ataxia, Cerebellar atrophy, Dysphagia ORPHA:363717
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Neovascular Glaucoma
Visual loss, Photophobia, Visual acuity test abnormality ORPHA:94058
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Broad-based gait, Gait ataxia, Dystonia, Motor stereotypy OMIM:617807
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Cognitive impairment, Disinhibition, Dementia, Attention deficit... ORPHA:43
Congenital Tufting Enteropathy
Irritability, Failure to thrive, Weight loss, Photophobia ORPHA:92050
Tick-Borne Encephalitis
Fatigable weakness of respiratory muscles, Photophobia, Depression, Cognitive impairment, Diminis... ORPHA:297
Classic Mycosis Fungoides
Skin ulcer, Dry skin, Erythema ORPHA:2584
Gaucher Disease, Perinatal Lethal
Akinesia, Neonatal death, Opisthotonus, Dysphagia, Progressive neurologic deterioration, Intraute... OMIM:608013
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Hypsarrhythmia, Sensorineural hearing impairment, Abnorma... ORPHA:506
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Obesity, Dystonia, Ataxia, Impaired vibratory sensation OMIM:616267
Rett Syndrome
Truncal ataxia, Gait apraxia, Stereotypical hand wringing, Gait ataxia, Short stature, Dystonia, ... OMIM:312750
Indifference To Pain, Congenital, Autosomal Recessive
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... OMIM:243000
Meningioma
Enlarged pituitary gland, Difficulty walking, Reduced circulating prolactin concentration, Memory... ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... OMIM:618825
Albinism, Oculocutaneous, Type Vii
High hypermetropia, Reduced visual acuity, Photophobia OMIM:615179
Free Sialic Acid Storage Disease
Skin ulcer, Seizure, Athetosis, Gait disturbance, Ataxia ORPHA:834
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hyperactivity, Head-banging, Seizure, Self hugging, Motor ste... OMIM:182290
Leukodystrophy, Hypomyelinating, 13
Irritability, Ataxia, Exaggerated startle response OMIM:616881
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Tongue thrusting, Broad-based gait, Recurrent hand flapping, Obesity, Inappropria... ORPHA:411511
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Bradykinesia, Resting tremor, Bruxism, Tremor, Shuffling gait, Obesity, Dystonia, A... OMIM:300055
Hijazi-Reis Syndrome
Postnatal growth retardation, Gait disturbance, Motor stereotypy OMIM:301094
Insulinoma
Abnormality of pain sensation, Transient global amnesia, Tremor, Increased body weight, Polyphagi... ORPHA:97279
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Photophobia, Dyschromatopsia, Obesity, Pain insensitivity,... ORPHA:251004
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer ORPHA:743
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Depression, Cognitive impairment, Short stature, Ataxia, Self-injurious behavior OMIM:601853
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Cri-Du-Chat Syndrome
Difficulty walking, Hyperactivity, Short attention span, Oppositional defiant disorder, Growth de... OMIM:123450
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, EEG with generalized slow activity, Motor stereotypy ORPHA:397612
Congenital Disorder Of Deglycosylation 2
Sandal gap, Cerebellar vermis hypoplasia, Microtia, Hypothalamic hamartoma, Bilateral talipes equ... OMIM:619775
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Decreased nerve conduction velocity, Abnormal pyramidal tract morphology, Cerebellar ... OMIM:256600
Sjogren-Larsson Syndrome
Color vision defect, Reduced visual acuity, Photophobia OMIM:270200
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Cerebellar hypoplasia, Low-set ears, Decreased thalamic volume OMIM:619072
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Difficulty walking, Distal sensory impairment, Inability ... ORPHA:254930
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Infantile spasms, Generalized-onset seizu... OMIM:300672
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Gait ataxia, Growth delay, Inappropriate laughter, Opisthotonus... OMIM:103050
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing... OMIM:300912
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Decreased thalamic volume, Dilated fourth ventricle, Hypoplasia of the pons, Abn... 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
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactivity disorder,... ORPHA:261197
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Buerger Disease
Skin ulcer ORPHA:36258
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Arthrogryposis Multiplex Congenita 6
Akinesia, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Bilateral tonic-clonic seizure with generalized onset, Seizure, EEG with focal ... ORPHA:98795
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Difficulty walking, Exaggerated startle response ORPHA:320406
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Citrullinemia Type Ii
Irritability, Memory impairment, Hyperactivity, Confusion, Tremor, Delayed menarche, Restlessness... ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Narrow nasal bridge, Emotional lability, Low frustration tolerance, Hyperextensibility... OMIM:309520
Acrodermatitis Enteropathica
Photophobia, Emotional lability, Failure to thrive, Weight loss, Visual impairment ORPHA:37
Holoprosencephaly
Spinal cord tumor, Chorea, Abnormal pinna morphology, Anosmia, Cognitive impairment, Absent nares... ORPHA:2162
Congenital Myopathy 9A
Short stature, Akinesia, Death in infancy OMIM:618822
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Dystonia, Progressive ga... ORPHA:309256
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Tapered finger, Camptodactyly of finger, Aplasia/Hypoplasia of the distal p... ORPHA:3201
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Seizure, Motor stereotypy, EEG abnormality