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Gene: Grxcr1 MGI:3577767

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Gene Summary

Name:
glutaredoxin, cysteine rich 1
Synonyms:
pi,  tde

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
head bobbing Grxcr1em1(IMPC)J HOM Early adult 7.56×10-07
abnormal auditory brainstem response Grxcr1em1(IMPC)J HOM   Early adult 7.63×10-12
abnormal startle reflex Grxcr1em1(IMPC)J HOM Early adult 3.01×10-06
increased circulating cholesterol level Grxcr1em1(IMPC)J HOM Early adult 8.82×10-05
hyperactivity Grxcr1em1(IMPC)J HOM Early adult 1.76×10-06
decreased startle reflex Grxcr1em1(IMPC)J HOM Early adult 8.96×10-07
abnormal ear morphology Grxcr1em1(IMPC)J HOM Early adult 7.40×10-05
decreased prepulse inhibition Grxcr1em1(IMPC)J HOM Early adult 2.43×10-17

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Combined SHIRPA and Dysmorphology

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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Electroretinography 3

Fundus file

6 Images

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X-ray

XRay Images Forepaw

6 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by Grxcr1 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 Grxcr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285

The table below shows human diseases predicted to be associated to Grxcr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Positive Romberg sign,... OMIM:616515
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior, Hearing impairment OMIM:620038
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300425
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:209850
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300495
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, EEG abnormality, Falls, Inappropriate laughter, Bruxism, Abn... OMIM:619150
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Hand tremor, ... OMIM:617862
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Brain a... OMIM:618718
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Stxbp1-Related Encephalopathy
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... ORPHA:599373
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, EEG abnormality OMIM:617820
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Low-set ears, Brain a... OMIM:619092
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, EEG abnormality, Onychotillomani... OMIM:182290
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impai... OMIM:618497
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:608049
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Choreoathetosis, Bilateral se... OMIM:619422
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... OMIM:620211
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy OMIM:300983
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto... OMIM:600795
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia OMIM:615924
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Bruxism, Cerebral atrophy, ... OMIM:617435
Christianson Syndrome
Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Neuronal loss in ce... ORPHA:85278
7Q31 Microdeletion Syndrome
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Abno... ORPHA:251061
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity, Hypsarrhythmia OMIM:617113
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... ORPHA:275864
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re... OMIM:618218
Pick Disease Of Brain
Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor... OMIM:172700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... OMIM:612716
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Abnormal pinna morphology, Gait disturbance, Inappropriate laughter, Thick... OMIM:614104
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Att... OMIM:618342
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... OMIM:617807
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Gait disturbance, Abnormalit... ORPHA:544254
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macro... OMIM:618004
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... OMIM:619580
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Difficulty walking, Dystonia, Abnormal repetitive mannerisms, ... ORPHA:280763
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Foxg1 Syndrome
Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive ma... ORPHA:561854
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple... OMIM:619317
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,... OMIM:617802
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, EEG abnormality, Gait dist... ORPHA:157941
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Prominent ear helix, Large earlobe, Occipital cortical atrophy, Abnormal repet... ORPHA:411986
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... OMIM:277460
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Hearing impairment, Bruxism OMIM:616351
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... OMIM:616267
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... OMIM:619725
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia ORPHA:500180
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... OMIM:301029
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Distal Deletion 10Q
Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Low-set ears,... ORPHA:96148
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Smith-Magenis Syndrome
Hypertriglyceridemia, EEG abnormality, Self-injurious behavior, Attention deficit hyperactivity d... ORPHA:819
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Cri-Du-Chat Syndrome
Hyperactivity, Abnormal pinna morphology, Hearing impairment, Aggressive behavior, Optic atrophy,... OMIM:123450
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s... OMIM:618430
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Action tremor ORPHA:77296
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Posteriorly rotated ears, Low-set ears, Compulsive behavio... OMIM:618027
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Jerky head movements, Dysphagia, Focal dystonia ORPHA:240103
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Hearing impairment, Oral-pharyngeal dysphagia OMIM:610883
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... ORPHA:168491
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, Abnormal... ORPHA:2479
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Inability to walk, Bruxism, L... OMIM:300260
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... ORPHA:98784
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Agitation, Gait disturbance, Abnormal autonomic nervous system physiology, Dystonia, Rec... OMIM:617903
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, A... ORPHA:79264
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Attention defici... OMIM:619312
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears OMIM:616222
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... OMIM:618205
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal repetitive mannerisms... OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Abnormal autonomic ... ORPHA:778
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... OMIM:300352
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst... ORPHA:157946
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... OMIM:616393
Cln5 Disease
Hyperactivity, Aggressive behavior, Tremor, Multifocal epileptiform discharges, Obsessive-compuls... ORPHA:228360
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Cerebral cortical atrophy ORPHA:85277
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Abnormal repetitive manne... OMIM:613454
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
48,Xxyy Syndrome
Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti... ORPHA:10
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Sensorineural hearing impairment, ... ORPHA:79237
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620023
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the brainstem, Optic atrop... ORPHA:66634
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di... OMIM:619121
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... OMIM:618347
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Brain atrophy, Limb... ORPHA:457351
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Macrotia, Self-biting, Stereotypical body ro... OMIM:300912
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Continuous spike and waves dur... OMIM:619428
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Compulsive behaviors, Abnormal r... OMIM:613174
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Childhood Absence Epilepsy
Punding, EEG with spike-wave complexes (2.5-3.5 Hz), Attention deficit hyperactivity disorder, Je... ORPHA:64280
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... ORPHA:208447
Neuhauser Syndrome
Large fleshy ears, Hypercholesterolemia, Cupped ear, Dysphagia OMIM:249310
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Ogden Syndrome
Abnormal head movements, Torticollis, Cerebral atrophy, Shuffling gait, Low-set ears, Macrotia ORPHA:276432
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Opi... OMIM:619913
Laron Syndrome
Hypercholesterolemia ORPHA:633
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing imp... ORPHA:300570
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Abnormal eating behavior, Tongue thr... ORPHA:98794
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized polyspikes, Aggressive behavior, EEG with generalized epilept... ORPHA:163681
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Optic atrophy, Dysphagia, Dystonia, Macrotia, Abnormal repetitive man... ORPHA:496641
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequen... OMIM:619103
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention deficit hyper... ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac... OMIM:300986
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Unsteady gait, ... OMIM:606232
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration, Athetosis, Dys... ORPHA:52503
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... OMIM:615656
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Low-set ears, Attention deficit hyperactivity disorder, Abnormal repeti... OMIM:619293
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... OMIM:607485
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Aplasia/Hypoplasia of... ORPHA:138
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Sensorineural h... ORPHA:468678
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Addictive alcohol use ORPHA:90065
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... ORPHA:90321
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Low-set ears, Abnormal repe... ORPHA:457279
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mann... OMIM:615802
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms, Ataxia ORPHA:927
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Posteriorly rotated ears, Tremor, Inability to walk, Agitation, Dysphagia, Global brain a... OMIM:619229
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... ORPHA:909
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Deafness, Unilateral
Unilateral deafness OMIM:125000
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Dysphagia, Protruding ear, Hypsarrhythmia, Brain atrophy, Low-set ea... ORPHA:447997
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:1001
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Attention deficit hypera... OMIM:619575
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dysphag... ORPHA:845
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Collectionism, Aggressive behavior, Unsteady ga... ORPHA:96121
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Atte... ORPHA:90674
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Trunc... OMIM:617330
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Cerebral cortical atrophy, Th... ORPHA:261494
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Aggressive behavior... OMIM:614756
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:476126
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Developmental And Epileptic Encephalopathy 2
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... OMIM:300672
Pitt-Hopkins Syndrome
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms OMIM:610954
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic at... ORPHA:79330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Protruding ear, EEG abnormality, ... ORPHA:534
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia OMIM:617527
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... OMIM:619512
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... OMIM:615485
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Intenti... OMIM:619475
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e... OMIM:301040
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Papilledema, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment ORPHA:79255
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Nmda Receptor Encephalitis
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, Opis... ORPHA:217253
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Cerebellar atrophy, Optic nerve hypoplasia,... ORPHA:468631
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... OMIM:620330
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Niemann-Pick Disease, Type C2
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy... OMIM:301030
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension OMIM:268800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Protruding ear, Gait disturbance, Attention deficit hyperactivity disorder, Ab... ORPHA:464311
Charge Syndrome
Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, Sensorineural... OMIM:214800
Immunodeficiency 47
Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentration OMIM:300972
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive... ORPHA:464306
Cockayne Syndrome A
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:216400
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Self-injurious behavior, Abnorma... ORPHA:649
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Laryngea... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253800
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ... OMIM:309590
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:133540
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... OMIM:301066
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia, EEG with generalized slow activity OMIM:618367
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Papilledema OMIM:619471
Arboleda-Tham Syndrome
Dystonia, Posteriorly rotated ears, Anteverted ears, Prominent antitragus, Optic atrophy, Promine... OMIM:616268
Developmental And Epileptic Encephalopathy 100
Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Brain atrophy, Dysphagia, Abnormal repeti... OMIM:619777
Kinsship Syndrome
Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism OMIM:619297
Steinert Myotonic Dystrophy
Aggressive behavior, Oral-pharyngeal dysphagia, Fatigable weakness of bulbar muscles, Facial dipl... ORPHA:273
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Low-set ears, Dysphagia, Hypercholesterolemia, Tin... OMIM:606721
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo... ORPHA:369837
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear... OMIM:615873
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... ORPHA:508498
Alagille Syndrome 1
Hypercholesterolemia, Macrotia, Hypertriglyceridemia, Low-set ears OMIM:118450
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Polyphagia, Optic atrophy, S... ORPHA:1606
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention deficit hyperactivity dis... ORPHA:177907
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... OMIM:619325
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Impair... OMIM:619005
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Abnormal cochlea morphology, Large e... ORPHA:798
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d... OMIM:259050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... OMIM:612474
Ogden Syndrome
Torticollis, Cerebral atrophy, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, M... OMIM:300855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dysphagia, Dystonia, Stere... ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Sensorineural hearing impairment, Conductive hearing impairment, Steno... OMIM:194190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Ag... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261552

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 Grxcr1

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 Grxcr1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Grxcr1tde Grxcr1tde PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Grxcr1tde PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Grxcr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Grxcr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grxcr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Grxcr1tm466383(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grxcr1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grxcr1em1(IMPC)J Intra-exon deletion Mice
Grxcr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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