Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Mctp1em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Mctp1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608636
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... 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
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Self-injurious behavior, Absent internal auditory cana... OMIM:620469
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Hyperactivity, Low-se... ORPHA:251061
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Abnormal fallopian tube morphology ORPHA:145
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Compulsive behaviors, Recurrent hand flap... OMIM:620021
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Motor stereotypy, EEG abnormality, Bruxism, Aggressive behavior OMIM:619150
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ... OMIM:182290
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la... OMIM:614104
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:617820
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Macrotia, Hypsarrhythmia, Motor stereotypy OMIM:619877
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Attention deficit hyperactivity di... OMIM:618342
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... 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
Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifocal epileptiform dis... ORPHA:411986
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Motor stereotypy OMIM:619690
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy 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, Large fleshy ears, Motor stereotypy OMIM:619092
Pontocerebellar Hypoplasia, Type 11
Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious b... OMIM:617695
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Xq28 (MECP2) duplication
Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Christianson Syndrome
Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... OMIM:610706
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Synotia, Abnormal cranial nerve morphology, Low-set, posteriorly rotated ears, Narrow internal au... ORPHA:990
Crouzon Syndrome
Hearing impairment, Conductive hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, EEG with continuous slow activity, R... ORPHA:275864
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy OMIM:614063
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... OMIM:600430
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Gorham-Stout Disease
Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Motor stereotypy, EEG abnormality OMIM:610883
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... ORPHA:449291
Apert Syndrome
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Abnormal semicirc... ORPHA:87
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... ORPHA:397612
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears, Dysphagi... OMIM:617802
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Self-mutilation, Motor stereotypy ORPHA:457240
4Q21 Microdeletion Syndrome
Hearing impairment, Self-injurious behavior, Low-set ears, Motor stereotypy ORPHA:238750
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy OMIM:616351
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Ag... 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
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
Baker-Gordon Syndrome
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:618218
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Developmental And Epileptic Encephalopathy 64
Macrotia, Bruxism, Motor stereotypy, Self-injurious behavior 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
Optic atrophy, Hyperactivity, Stenosis of the external auditory canal, Abnormal pinna morphology,... OMIM:123450
22Q11.2 Duplication Syndrome
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:1727
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear, Aggressive behavior OMIM:618914
Autism, Susceptibility To, 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608049
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Congenital... ORPHA:500159
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... OMIM:617796
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, St... OMIM:300912
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy OMIM:618205
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity diso... OMIM:617061
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Hearing impairment, Motor stereotypy, Att... OMIM:619580
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Foxg1 Syndrome
Motor stereotypy, Bruxism, Stereotypical hand wringing, Paroxysmal bursts of laughter 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, Macrotia, Dysphagia, Motor stereotypy, Repetitive compulsive behavior, Bruxism OMIM:300260
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior OMIM:600795
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... ORPHA:168491
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
48,Xxyy Syndrome
Chronic otitis media, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Self-mutilation, Motor stereotypy OMIM:300486
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy OMIM:618917
Rett Syndrome, Congenital Variant
Tongue thrusting, Motor stereotypy, Protruding ear, EEG abnormality, Bruxism OMIM:613454
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Distal Deletion 10Q
Facial diplegia, Low-set ears, Cochlear malformation, Attention deficit hyperactivity disorder, C... ORPHA:96148
Radio-Tartaglia Syndrome
Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, Attention deficit h... OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Motor stereotypy, Overfriendliness OMIM:616579
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... OMIM:619695
Lopes-Maciel-Rodan Syndrome
Agitation, Bruxism, Dysphagia, Motor stereotypy OMIM:617435
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... OMIM:619103
Ritscher-Schinzel Syndrome 4
Impulsivity, Macrotia, Dysphagia, Motor stereotypy, Aggressive behavior OMIM:619435
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... OMIM:619293
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Motor stereotypy OMIM:619317
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi... ORPHA:2306
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
Kleefstra Syndrome 1
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... OMIM:610253
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Optic nerve hypoplasia, Low-set ears, Bilateral ... OMIM:616364
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperact... ORPHA:819
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia, Optic disc pallor, Interictal EEG abnormality ORPHA:79264
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Motor stereotypy ORPHA:530983
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Sensorineural hearing impairment, EEG abnormality, Motor stereotypy ORPHA:2479
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Posteriorl... OMIM:212066
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Aggressive behavior, Microtia, Compulsive behaviors, Hearing impairment, Posteriorly rotated ears... OMIM:620494
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Macrotia, Prominent antihelix, Motor stereotypy OMIM:615802
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Motor stereo... ORPHA:457351
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Motor stereotypy, Attention deficit hyperact... OMIM:300352
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Compulsive behaviors, Motor stereotypy OMIM:615656
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... ORPHA:447997
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Motor stereotypy, Abn... ORPHA:435638
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly... ORPHA:468678
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Conductive hearing im... ORPHA:261197
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... 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
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... OMIM:619575
Den Hoed-De Boer-Voisin Syndrome
Agitation, Hypsarrhythmia, EEG with focal spike waves, Stereotypical hand wringing, Posteriorly r... OMIM:619229
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... ORPHA:1001
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Phelan-Mcdermid Syndrome
Tongue thrusting, Hearing impairment, Macrotia, Motor stereotypy, Protruding ear, Bruxism, Aggres... OMIM:606232
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Abnormal audi... ORPHA:909
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity, Aggressive behavior 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
Optic nerve hypoplasia, Dysphagia, Motor stereotypy ORPHA:572013
Rett Syndrome
Agitation, Abnormal autonomic nervous system physiology, Stereotypical hand wringing, Motor stere... ORPHA:778
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, EEG with focal spikes, Increased theta frequency activity in EE... ORPHA:98784
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low-set ears, Motor stereotypy, Aggressive behavior ORPHA:457279
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Charge Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Abnormality of the inner ear, Aplasia/Hypoplasi... ORPHA:138
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Kleefstra Syndrome
Chronic otitis media, Hearing impairment, Motor stereotypy, Self-injurious behavior, Thickened he... ORPHA:261494
Noonan Syndrome
Sensorineural hearing impairment, Thickened helices, Low-set, posteriorly rotated ears, Aplasia o... ORPHA:648
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormality, Aggre... OMIM:610042
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ... OMIM:300986
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural hearing impairm... ORPHA:300570
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Macrotia, Dysphagia, Motor stereotypy ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Attention deficit hyperactivity disorder, Facial diplegia, Motor stereotypy, Aggressive behavior OMIM:619121
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Pitt-Hopkins Syndrome
Self-injurious behavior, Thickened helices, Motor stereotypy, Cupped ear OMIM:610954
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... ORPHA:580
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... ORPHA:96121
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Bainbridge-Ropers Syndrome
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Motor stereotypy, Self-injurious... OMIM:615485
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... OMIM:619512
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620242
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, EEG with parietal focal spikes, EEG with central focal spikes, EEG with o... OMIM:301066
Distal Renal Tubular Acidosis
Polydipsia, Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Motor stereotypy OMIM:301040
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Motor stereotypy ORPHA:927
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior ORPHA:319182
Van Esch-O'Driscoll Syndrome
Microtia, Impulsivity, Attention deficit hyperactivity disorder, Motor stereotypy, Protruding ear OMIM:301030
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics 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
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral sensorineural hearing impair... ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Multifocal epileptiform discharges, Agitation, Aggressive behavior, Restrictive behavior, Hypsarr... OMIM:619475
Kinsship Syndrome
Bruxism, Low-set ears, Motor stereotypy OMIM:619297
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
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, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... 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 spike-wave complexes, EEG with focal sharp waves, EEG with series of focal spikes, Motor... ORPHA:522077
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal helix morphology, Abnormal cochlea morphology, Lo... ORPHA:798
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Overfolded helix OMIM:617330
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy,... OMIM:214800
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set ears, Facial palsy, Polyphagia, Compulsive behaviors, Posteriorly rotated ... OMIM:615873
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy, Optic disc pallor ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Protruding ear, Optic disc pallor ORPHA:464306
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology, Stereotypical body rocking, Motor st... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests, Attention defic... 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
Optic atrophy, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor s... OMIM:309590
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation... ORPHA:476126
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy OMIM:300672
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... ORPHA:353281
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Arboleda-Tham Syndrome
Chronic otitis media, Optic atrophy, Recurrent otitis media, Small earlobe, Underdeveloped tragus... OMIM:616268
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Low-set ears, Attention deficit hyperactivity disorder, Short ear, Posteriorly rot... OMIM:614756
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, Posteriorly rotated ears, Motor stereotypy, EEG abnormality, Overfolded helix 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
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing impairment, Motor s... ORPHA:508498
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Pol... ORPHA:1606
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Posteriorly rotated... OMIM:619325
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Skin-picking, Motor stereotypy, Att... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, EEG abnormality, Self-mutilation, Motor stereotypy OMIM:619005
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Low-set, posteriorly rotated ears, Compulsive behaviors, Attention deficit ... ORPHA:534
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia 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
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353277
Ogden Syndrome
Recurrent otitis media, Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Protruding ear OMIM:300855
Nmda Receptor Encephalitis
Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ... ORPHA:217253
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Wolf-Hirschhorn Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... OMIM:194190
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Dysphagia, Motor stereotypy OMIM:619777
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Simple ear, Protruding ear, Sel... OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Att... 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
Superiorly displaced ears, Calcification of the auricular cartilage, Tics, Hearing impairment, Ma... OMIM:259050
Niemann-Pick Disease, Type C2
Dysphagia, Motor stereotypy OMIM:607625
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Okamoto Syndrome
Bifid uterus ORPHA:2729
Mowat-Wilson Syndrome
Recurrent otitis media, Aganglionic megacolon, EEG with spike-wave complexes, Sensorineural heari... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Aganglionic megacolon, Sensorineural hearing impairment, Uplifted earlobe... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Recurrent otitis media, Aganglionic megacolon, Sensorineural hearing impairment, U... ORPHA:261552
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia ORPHA:709
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Peters-Plus Syndrome
Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of the ute... OMIM:261540
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior 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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