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Gene: Mctp1 MGI:1926021

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Gene Summary

Name:
multiple C2 domains, transmembrane 1
Synonyms:
2810465F10Rik

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
hydrometra Mctp1em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Mctp1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Mctp1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mctp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300425
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:209850
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor stereotypy, Mac... OMIM:609425
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, EEG abnormality,... OMIM:618718
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation OMIM:617171
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:608636
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Hypoplasia of the cochlea, Profound sens... OMIM:620469
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behav... OMIM:620021
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300495
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Hyperprolinemia, Type I
EEG abnormality, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Aggressive behavior, EEG abnormality, Motor stereotypy OMIM:619150
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-banging, Hearing impairmen... OMIM:182290
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Hyperactivity, Thickened helices, Motor ster... OMIM:614104
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, EEG abnormality OMIM:617820
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Motor stereotypy, Hearing impairment, Macrotia OMIM:619877
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Large earlobe, Hypsarrhythmia, Multifocal epileptiform discharges, Motor ste... ORPHA:411986
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Motor stereotypy OMIM:619690
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Overfolded helix, Motor stereotypy, Large fleshy ears OMIM:619092
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy, M... OMIM:617695
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Xq28 (MECP2) duplication
Motor stereotypy, Dysphagia, Macrotia DECIPHER:45
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... OMIM:617808
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Christianson Syndrome
Inappropriate laughter, Motor stereotypy, Dysphagia, Macrotia ORPHA:85278
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia ORPHA:391307
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, EEG with continuous slow activity, Inappropriate behavior, Disinhibition, A... ORPHA:275864
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing impairment, Skin-pick... OMIM:600430
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... OMIM:618027
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Potocki-Lupski Syndrome
Hearing impairment, Oral-pharyngeal dysphagia, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:610883
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination, EEG with generalized s... ORPHA:397612
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Bilateral conductive hearing impairment, Dysphagia, Interictal epileptiform activit... OMIM:617802
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Motor stereotypy, Macrotia ORPHA:457240
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment ORPHA:238750
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Hearing impairment OMIM:616351
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Compulsive behaviors,... OMIM:618430
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... OMIM:617751
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy, EEG abnormality OMIM:618218
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy, Macrotia OMIM:618004
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Prominent antihelix, Motor stereotypy OMIM:617807
Cri-Du-Chat Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Stenosis of the external auditory canal, Opposit... OMIM:123450
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... ORPHA:1727
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:608049
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... ORPHA:500159
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... OMIM:617796
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... OMIM:613174
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin... OMIM:300912
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Snijders Blok-Campeau Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity... OMIM:619580
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Motor stereotypy, Abnormal antihelix morphology ORPHA:261144
Foxg1 Syndrome
Bruxism, Paroxysmal bursts of laughter, Motor stereotypy, Stereotypical hand wringing ORPHA:561854
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Bruxism, Repetitive compulsive behavior, Dysphagia, Motor stereotypy, Macrotia OMIM:300260
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy OMIM:600795
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, Obsessive-co... ORPHA:168491
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Aggressive behavior, Attention deficit hyperactivity diso... ORPHA:313892
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Chronic otitis media ORPHA:10
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 38
Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Motor stereotypy, Hyperactivity, Macrotia OMIM:300486
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing OMIM:618917
Rett Syndrome, Congenital Variant
Bruxism, Protruding ear, Tongue thrusting, EEG abnormality, Motor stereotypy OMIM:613454
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia OMIM:620502
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Aggressive behavi... OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Motor stereotypy, Overfriendliness OMIM:616579
Rauch-Steindl Syndrome
Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo... OMIM:619695
Lopes-Maciel-Rodan Syndrome
Motor stereotypy, Bruxism, Dysphagia, Agitation OMIM:617435
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity disorder, M... OMIM:619103
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Restless legs, Sensorineural hearing impairment, Absent brai... ORPHA:101085
Ritscher-Schinzel Syndrome 4
Macrotia, Aggressive behavior, Dysphagia, Motor stereotypy, Impulsivity OMIM:619435
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... OMIM:619293
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Motor stereotypy OMIM:619317
Transketolase Deficiency
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive... ORPHA:488618
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Kleefstra Syndrome 1
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... OMIM:610253
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Overfriendliness, Sensorineu... OMIM:616364
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Attention deficit hyperactivity disorder,... ORPHA:819
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Dysphagia, Motor stereotypy ORPHA:79264
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Optic atrophy, Motor stereotypy, Hyperactivity ORPHA:530983
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Motor stereotypy, EEG abnormality, Sensorineural hearing impairment ORPHA:2479
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg... OMIM:212066
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus OMIM:615300
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor... OMIM:620494
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia OMIM:615802
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, EEG with frontal sharp slow waves, Sensorineural hearing impairment, Hyp... ORPHA:457351
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Attention deficit hyperactivity disorder, Aggressive behavior, Underfolded... OMIM:300352
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:615656
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hair-pulling, Protruding ear, Hypsarrhythmia, Dysphagia, Hyperactivity, Motor stere... ORPHA:447997
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Attention deficit hyperactivity disorder, Motor stereotypy, Sensori... ORPHA:435638
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
White-Sutton Syndrome
Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Sensorineural hearing impai... ORPHA:468678
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hearing impairment, Sensor... ORPHA:261197
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, EEG with... OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tant... OMIM:619575
Den Hoed-De Boer-Voisin Syndrome
Stereotypical hand wringing, Posteriorly rotated ears, Hypsarrhythmia, Dysphagia, EEG abnormality... OMIM:619229
2Q37 Microdeletion Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear... ORPHA:1001
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Phelan-Mcdermid Syndrome
Hearing impairment, Bruxism, Protruding ear, Aggressive behavior, Tongue thrusting, Motor stereot... OMIM:606232
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Mend Syndrome
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia, Optic nerve hypoplasia ORPHA:572013
Rett Syndrome
Bruxism, Stereotypical hand wringing, EEG abnormality, Abnormal autonomic nervous system physiolo... ORPHA:778
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Attention deficit hyperactivity disorder, EEG with foc... ORPHA:98784
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Motor stereotypy, Aggressive behavior ORPHA:457279
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat... ORPHA:138
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Kleefstra Syndrome
Self-injurious behavior, Hearing impairment, Self-mutilation, Aggressive behavior, Thickened heli... ORPHA:261494
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Mo... OMIM:610042
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Bil... ORPHA:300570
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Motor stereotypy, Dysphagia, Macrotia ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder, Facial diplegia, Aggressive behavior OMIM:619121
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Thickened helices, Cupped ear OMIM:610954
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Decreased n... ORPHA:580
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... ORPHA:96121
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Bainbridge-Ropers Syndrome
Low-set ears, Self-injurious behavior, Recurrent hand flapping, Motor stereotypy, Posteriorly rot... OMIM:615485
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Optic atrophy, Self-injurious behavior, Frequent temper tantrums, Sensorineural hea... OMIM:619512
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620242
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Recurrent otitis media, EEG with central focal spikes, Aggressive... OMIM:301066
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment ORPHA:18
Norrie Disease
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairme... ORPHA:649
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Posteriorly rotated ears, Motor stereotypy, Microtia OMIM:301040
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Agitation ORPHA:927
Wiedemann-Steiner Syndrome
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Van Esch-O'Driscoll Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Microtia OMIM:301030
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy OMIM:619725
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Thin ear helix, Low-set, posteriorly rotated ears, Bilateral sensorineur... ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Cupped ear, Hearing impairment, Violent behavior, Bruxism, Otitis media, Pr... OMIM:619475
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Kinsship Syndrome
Low-set ears, Bruxism, Motor stereotypy OMIM:619297
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy OMIM:618653
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with focal sharp waves, EEG with spike-wave complexes, Self-mutilation, Repetitive compulsive... ORPHA:522077
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, Aganglionic... ORPHA:798
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Motor stereotypy, Dysphagia, Overfolded helix, Posteriorly rotated ears, Small earlobe OMIM:617330
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Self-mutilation, Sensorineural heari... OMIM:214800
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Cupped ear, Bruxism, Polyphagia, Posteriorly rotated ears, Attention deficit hypera... OMIM:615873
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Optic disc pallor, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Protruding ear, Hyperactivity, Optic disc pallor, Motor stereotypy, Macrotia ORPHA:464306
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Stereotypical body rocking, Abnormal Eustachian tube morphology, Repetiti... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hair-pulling, Protruding ear, Polyphagia, Motor stere... OMIM:620330
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Optic atrophy, Cupped ear, Hearing impairment, Protruding ear, Motor stereotypy, Hy... OMIM:309590
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:476126
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, Motor stereotypy, EEG with generalized slow activity OMIM:300672
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... ORPHA:353281
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... OMIM:241080
Arboleda-Tham Syndrome
Low-set ears, Optic atrophy, Small earlobe, Prominent antihelix, Recurrent otitis media, Underdev... OMIM:616268
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Short ear, Protruding ear, Aggressive behavior, Posteriorly rotated ears, Attention... OMIM:614756
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypsarrhythmia, EEG abnormality, Overfolded helix, Posteriorly rotated ears OMIM:301044
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Abnormal optic disc morphology, Facial palsy, Motor stereotypy, Optic nerve h... ORPHA:508498
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... ORPHA:3464
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
1P36 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Conductive hearing impairment, Low-set, posteriorly rotat... ORPHA:1606
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Large earlobe, Sensorineural hearing impairment, Protruding ea... OMIM:619325
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, EEG abnormality, Self-mutilation OMIM:619005
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Low-set, posteriorly rotated ears, Protruding ear, Attention deficit hyp... ORPHA:534
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... ORPHA:322
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonadal dysgenesis OMIM:618419
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353277
Ogden Syndrome
Low-set ears, Recurrent otitis media, Protruding ear, Dysphagia, Motor stereotypy, Macrotia OMIM:300855
Nmda Receptor Encephalitis
Orthostatic tachycardia, EEG with temporal sharp slow waves, Orthostatic hypotension, Abnormal au... ORPHA:217253
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias OMIM:137920
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Stenosis of the external auditory canal, Sensorineural hearing imp... OMIM:194190
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Dysphagia, EEG with photoparoxysmal response OMIM:619777
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Self-injurious behavior, Sensorineural hearing impairment, Protruding ear, Simple e... OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Posteriorly rotated ears, Attention deficit hyperactivity disorder, Dysphagia, Moto... OMIM:619522
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy ORPHA:508533
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Primrose Syndrome
Self-injurious behavior, Hearing impairment, Aggressive behavior, Attention deficit hyperactivity... OMIM:259050
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia OMIM:607625
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Coffin-Siris Syndrome 1
Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism OMIM:135900
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Okamoto Syndrome
Bifid uterus ORPHA:2729
Mowat-Wilson Syndrome
Conductive hearing impairment, Recurrent otitis media, Bruxism, EEG with spike-wave complexes, Se... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Bruxism, Sensorineural hearing impairment, Aganglionic megacolon, Motor s... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Recurrent otitis media, Bruxism, Sensorineural hearing impairment, Aganglionic meg... ORPHA:261552
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias ORPHA:286
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia ORPHA:709
Pallister-Killian Syndrome
Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up... OMIM:601803
Peters-Plus Syndrome
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasia of the uterus, Hyp... OMIM:261540
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682

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 Mctp1

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 Mctp1.

No publications found that use IMPC mice or data for Mctp1.

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
Mctp1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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