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Gene: Cables1 MGI:1927065

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CDK5 and Abl enzyme substrate 1
Synonyms:
ik3-1,  interactor-1 with cdk3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cables1 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 Cables1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary mic... ORPHA:171703
Ovarian Dysgenesis 6
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm, Neoplasm o... OMIM:614350
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Cer... OMIM:604213
Isolated Corpus Callosum Agenesis
Dysphagia, Agenesis of corpus callosum ORPHA:200
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the rectum, Adenomatous colonic polypo... ORPHA:454840
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:614019
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Impulsivity, Probst bundles, Agenesis of corpus callosum, Attention deficit... OMIM:618286
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Colorectal Cancer
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... ORPHA:523
Cervical Cancer
Neoplasm, Cervix cancer OMIM:603956
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of... ORPHA:101029
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst... OMIM:615771
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pattern, Agen... OMIM:618492
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Motor stere... OMIM:618709
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Lissencephaly 3
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Microcep... OMIM:611603
Premature Ovarian Failure 18
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Elevated circulat... OMIM:619203
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Abnormal temper tantrums, Cavum septum pellucidum, Polymicrogy... ORPHA:300573
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior c... OMIM:617542
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:619665
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Optic nerve hypoplasia, Dysphagia, Pachygyria, Abnormality of the anterior ... ORPHA:572013
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401820
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Mult... OMIM:150800
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus c... ORPHA:85179
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
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum, Dysphagia OMIM:619025
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Agenesis of corpus callosum, Aggressive behavior OMIM:605899
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Ventr... OMIM:620200
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Primary microcephaly, Microlissencephaly, Simplified gyral pat... OMIM:617090
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Compulsive behaviors, Abnormal cerebral white matter morphology, Vent... ORPHA:500166
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Intellectual Developmental Disorder, Autosomal Recessive 37
Microcephaly, Bruxism, Hyperactivity, Aggressive behavior OMIM:615493
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:616570
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Progressive microcephaly, Recurrent hand flapping, Cerebral co... OMIM:617862
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ... ORPHA:255182
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Opti... ORPHA:171680
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616540
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Mi... OMIM:615282
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Microcep... OMIM:304100
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Aggressive behavior OMIM:619548
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal... ORPHA:314478
Lynch Syndrome
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... ORPHA:144
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Primary amenorrhea, Cryptorchidis... OMIM:614841
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology, Primary peritonea... ORPHA:145
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypo... OMIM:619302
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Progressive microcephaly, Inferior cerebellar vermis hypoplasia, Partial ... OMIM:618959
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Breast intraductal papilloma, Ovarian cyst, Thyroid adenoma,... OMIM:617100
Masa Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria OMIM:606053
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of corpus callosum, Cer... OMIM:619301
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Cowden Syndrome
Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Adenoma sebaceum,... ORPHA:201
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Hyperactivity, Hydrocephalus, Microcephaly, Simpli... OMIM:619470
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Hyperactivity, Agenesis of corpus callosum OMIM:274270
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia... OMIM:618325
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Craniotelencephalic Dysplasia
Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypop... ORPHA:1528
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callosum, Pachygyria, Ventricul... ORPHA:2512
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Nephroblastom... OMIM:194072
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Neoplasm of t... ORPHA:480536
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Absent... OMIM:218670
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Seconda... ORPHA:755
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Microcephal... OMIM:309548
Microcephaly 16, Primary, Autosomal Recessive
Primary microcephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616681
Full Schwannomatosis
Spinal cord tumor, Peripheral schwannoma, Lipoma, Lumbosacral hemangioma, Meningioma, Schwannoma,... ORPHA:93921
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:166024
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal corpus callosum morphology,... ORPHA:561854
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Gliosis, Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume... OMIM:615095
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly, Aggressive behavior OMIM:615286
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Lissencephaly, Cerebellar vermi... ORPHA:300570
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Delpire-Mcneill Syndrome
Cortical dysplasia, Dysphagia, Agenesis of corpus callosum OMIM:619083
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Inappropriate laughter, Motor stereotypy, Ventriculomegaly, Bruxism, Aggressive beh... OMIM:619150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypopl... OMIM:613153
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Developmental And Epileptic Encephalopathy 107
Microcephaly, Progressive microcephaly, Motor stereotypy OMIM:620033
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the corpus callosum, Microcephaly, Hypoplasia of the pons, Attention deficit hypera... OMIM:617695
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Ger... ORPHA:99429
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Hypoplasia of the corpus callosum, Self-injurious behavior, Cerebral cortical atrophy, Motor ster... OMIM:617820
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Abnormal external genitalia, Aplasia of the uterus, Primary amenorrhea, Ap... OMIM:158330
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Melanoma, Breast carcinoma ORPHA:457212
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy, Agenesis of corpus callosum OMIM:618766
Solitary Fibrous Tumor
Genital neoplasm, Neoplasm of the nervous system, Neoplasm of the lung, Vaginal neoplasm, Prostat... ORPHA:2126
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Microhydranencephaly
Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Ve... OMIM:605013
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Germ cell neoplasia, Azoosperm... ORPHA:90797
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Microcephaly, Restlessness, Lateral ventricle dilatation, Partial agenesis ... OMIM:619517
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... ORPHA:3130
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypo... OMIM:616171
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea OMIM:615363
N-Acetylaspartate Deficiency
Secondary microcephaly, Self-mutilation, Microcephaly, Motor stereotypy OMIM:614063
Thyroid Cancer, Nonmedullary, 4
Basal cell carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Serrated Polyposis Syndrome
Ovarian neoplasm, Germ cell neoplasia, Colorectal polyposis, Adenomatous colonic polyposis, Breas... ORPHA:157798
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:600118
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Hypoplasia of the pons, Lateral ... OMIM:618736
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern, Primary microcephaly, Partial agen... OMIM:604804
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Microcephaly, Simplified g... OMIM:616212
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608636
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Cerebral cor... OMIM:604360
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Motor stereotypy ORPHA:85277
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Motor stereotypy OMIM:617830
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Azoospermia, Hypoplasia of ... ORPHA:432
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia... ORPHA:168486
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Abnormal globus pal... OMIM:618603
Peripheral Primitive Neuroectodermal Tumor
Spinal cord tumor, Neoplasm of the pancreas, Ovarian neoplasm, Brain neoplasm, Precocious puberty... ORPHA:370348
Brunet-Wagner Neurodevelopmental Syndrome
Cerebral atrophy, Self-injurious behavior, Thin corpus callosum, Motor stereotypy OMIM:619690
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Microcephaly, Dilated fourth ve... OMIM:620428
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Hypoplasia of the brainstem, Cerebral hypoplasia, Lateral ventricle dilatation,... OMIM:618266
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Secondary microcephaly, Hypoplasia of the pons, Cerebral cortical atrophy, Dysphagia, Agenesis of... ORPHA:500144
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb... OMIM:620156
Joubert Syndrome 30
Dandy-Walker malformation, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria OMIM:617622
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Inappropriate behavior, Restrictive behavior, Collectionism, Abn... ORPHA:275864
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Cholelithiasis, Neoplasm of the skin, Impo... ORPHA:273
Caudal Duplication
Uterus didelphys, Abnormal penis morphology, Cryptorchidism ORPHA:1756
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly OMIM:616342
46,Xx Gonadal Dysgenesis
Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplasia/hypoplasia of ... ORPHA:243
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum OMIM:619955
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Frontal cortical atrophy, Agenesis of ... ORPHA:228384
Septooptic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microlissencephaly, Small cerebral cor... OMIM:617914
Amed Syndrome, Digenic
Hypoplasia of the uterus, Acute myeloid leukemia, Myelodysplasia OMIM:619151
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, Simplified gyral pattern, Agenes... OMIM:617669
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Cerebral calcification, Microlissencephaly, 4-layered lissence... ORPHA:89844
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Agenesis... OMIM:225790
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... OMIM:619244
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Neoplasm of the re... ORPHA:440437
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Microcephaly, Agenesis of cor... OMIM:614833
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi... OMIM:613443
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Ventriculomegaly OMIM:614583
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Chromosome 3Q13.31 Deletion Syndrome
Attention deficit hyperactivity disorder, Ventriculomegaly, Agenesis of corpus callosum OMIM:615433
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrhea, Increased circulating gonadot... ORPHA:785
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum OMIM:300406
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
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy, Lateral ventri... ORPHA:77299
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Agenesis of corpus callosum, Cerebellar hypoplasia, Ve... ORPHA:238750
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:164180
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Primary microcephaly, Partial agenesis of th... OMIM:607196
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia cysts, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:312170
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Ambiguous genitalia, male, Female external genitalia in individual with 46,X... ORPHA:90796
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cerebellar hypoplasia, Dysgenesis of the basal ganglia, Pachygyria, Agenesis of corpus callosum, ... OMIM:620316
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Subependymal cysts, Partial agenesis of the corpus callosum OMIM:245349
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Lumbar Syndrome
Hypospadias, Bifid scrotum, Hemangioma, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Microp... ORPHA:83628
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Omodysplasia 2
Glabellar hemangioma, Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus di... OMIM:164745
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Craniosynostosis 6
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:616602
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor,... OMIM:175200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, P... OMIM:616819
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Chromosome 3Q29 Deletion Syndrome
Microcephaly, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:609425
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Inappropriate behavior, Aggressive behavior,... OMIM:221770
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal basal ganglia morphology, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Mic... ORPHA:86822
Ovarian Fibroma
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ova... ORPHA:314473
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Microcephaly, Hypop... ORPHA:370959
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:251056
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:300887
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Agenesis of corpus callosum OMIM:619989
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Microcepha... OMIM:615249
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:300215
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Secondary microcephaly, Inferior cerebellar vermis hypoplasia,... OMIM:613192
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Ventriculomegaly, Partial agenesis of the corpus callosum, Cavum se... OMIM:619074
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Cerebral cortical atrophy, Disinhibition, Restlessness, Motor stereotypy,... OMIM:600795
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Choking episo... OMIM:620352
Intellectual Developmental Disorder, Autosomal Recessive 39
Microcephaly, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal burst... OMIM:618718
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Progressive microcephaly, Compulsive behaviors, Stereotypical hand wringing, Mo... OMIM:618917
Christianson Syndrome
Microcephaly, Cerebral cortical atrophy, Inappropriate laughter, Dysphagia, Motor stereotypy, Ven... ORPHA:85278
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea OMIM:136680
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Basal ganglia gliosis, Hypo... OMIM:607596
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Primary microcephaly, Agenesis of corpus callosum ORPHA:466688
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Cerebral cortical atrophy, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:617668
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Vent... OMIM:616362
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Abnormality of the female genitalia, Fibroma, Diffuse leiomyomatosis, Vagina... ORPHA:1018
Intellectual Developmental Disorder, Autosomal Dominant 22
Choroid plexus cyst, Stereotypical hand wringing, Microcephaly, Agenesis of corpus callosum, Bruxism OMIM:612337
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Cerebral cortical atrophy, Lewy bodies, Disinhibition, Neurofibrillary tan... OMIM:607485
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Motor stereotypy, Secondary microcephaly OMIM:617393
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Pachygyria, Ventriculomegaly, Agenesis of corpus callosum ORPHA:452
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Intellectual Developmental Disorder, Autosomal Dominant 65
Compulsive behaviors, Noncommunicating hydrocephalus, Agenesis of corpus callosum, Attention defi... OMIM:619320
Temtamy Syndrome
Ventriculomegaly, Thick corpus callosum, Self-mutilation, Agenesis of corpus callosum OMIM:218340
Severe Intellectual Disability And Progressive Spastic Paraplegia
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Microcephaly... ORPHA:280763
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified gyral pattern,... OMIM:615219
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Agitation, Dysphagia, Motor stereotypy, Bruxism, Caudate atrophy OMIM:617435
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Head-banging, Frequent temper tantrums, Microcephaly, Motor stereotyp... OMIM:619103
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Ring Chromosome 12 Syndrome
Breast hypoplasia, Glandular hypospadias, Cryptorchidism, Hemangioma, Uterine leiomyoma ORPHA:1439
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod... OMIM:194080
Bilateral Generalized Polymicrogyria
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter ... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Ritscher-Schinzel Syndrome 4
Dandy-Walker malformation, Impulsivity, Dysphagia, Agenesis of corpus callosum, Motor stereotypy,... OMIM:619435
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Abnormal periventricular white matter morphology, Microcephaly, Motor st... OMIM:619725
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:615802
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Hyperactivity, M... OMIM:617751
Chiari Malformation Type Ii
Hydrocephalus, Dysphagia, Agenesis of corpus callosum OMIM:207950
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Partial agenesis of the corpus callosum OMIM:618346
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618142
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys... ORPHA:71505
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Greig Cephalopolysyndactyly Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:175700
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Diffuse cerebral atrophy, Basal ganglia calcification, Agenesis of corpus callosum,... OMIM:214150
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Motor stereotypy, Agenesis of corpus callosum ORPHA:261144
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Exostoses, Uterine leiomyoma, Irregular menstruation OMIM:616482
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Compulsive behaviors, Agenesis of corpus callosum, Motor stereotypy OMIM:613174
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc... ORPHA:488627
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly, Ventricul... ORPHA:99742
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Thin corpus callosum, Partial agenesis of the corpus callosum OMIM:619653
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilata... OMIM:618890
Ehlers-Danlos Syndrome, Classic-Like, 1
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:607131
Familial Multinodular Goiter
Thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Motor st... OMIM:620073
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Bruxism, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Diffuse white matter abnormalities, Agenesis of corpus callosum OMIM:218000
Subependymal Nodular Heterotopia
Polymicrogyria, Partial agenesis of the corpus callosum, Focal cortical dysplasia ORPHA:101030
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Thin corpus callosum, Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Microce... OMIM:617807
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Microcephaly, Abnormal cerebral white matter mo... ORPHA:391307
Developmental And Epileptic Encephalopathy 64
Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Motor stereotypy, Sel... OMIM:618004
Ring Chromosome 22 Syndrome
Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Inappropriate behavior ORPHA:1446
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Microcephaly, Motor stereotypy, Attention d... OMIM:620141
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Neoplasm of the adrenal co... ORPHA:109
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Microcephaly, Motor stereotypy, Attention deficit hyperactivity disorder, Ventricu... OMIM:618342
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Prune Belly Syndrome
Urogenital sinus anomaly, Decreased testicular size, Abnormality of the uterus, Cryptorchidism, D... ORPHA:2970
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Inappropriate laughter, Agenesi... OMIM:618476
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Global brain atrophy, Progressive microcephaly, Agenesis of co... ORPHA:481152
Frontonasal Dysplasia 1
Pericallosal lipoma, Agenesis of corpus callosum OMIM:136760
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Globus pallidus calcification, Hyperactivity, Motor stereotypy, Attention deficit hyperactivity d... OMIM:620292
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum OMIM:613735
Houge-Janssens Syndrome 3
Hypoplasia of the corpus callosum, Microcephaly, Motor stereotypy, Attention deficit hyperactivit... OMIM:618354
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hypoplastic anterior commissure,... OMIM:616975
Curry-Jones Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:1553
Walker-Warburg Syndrome
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyr... ORPHA:899
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Cerebellar vermis hypoplasia, Hyperactivity, Microcephaly, Cerebral cortica... OMIM:619720
Xq28 (MECP2) duplication
Microcephaly, Dysphagia, Motor stereotypy, Hypoplasia of the corpus callosum DECIPHER:45
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Compulsive behaviors, Microcephaly, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Lissencephaly, Hydrocephalus, Optic nerve hypoplasia, Type II ... OMIM:614643
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Ventriculomegaly, Motor stereotypy OMIM:615637
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Gliosis, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:616239
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, Primary hyperparathyroi... ORPHA:99880
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hype... OMIM:241080
Baraitser-Winter Syndrome 1
Microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Ventriculomegaly OMIM:243310
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Dysphagia, Ventriculomegaly, ... OMIM:619775
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydrocephalus, Agenesis of corpus callos... ORPHA:459061
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Cortical dysplasia, ... OMIM:613001
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Agitation, Cerebral white matter atrop... ORPHA:2148
Radio-Tartaglia Syndrome
Impulsivity, Microcephaly, Dysphagia, Agenesis of corpus callosum, Motor stereotypy, Attention de... OMIM:619312
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, ... ORPHA:143
Septo-Optic Dysplasia Spectrum
Polydipsia, Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Aplasia/H... ORPHA:3157
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Aggressive behavior OMIM:618109
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal periventricular white matter morpholo... ORPHA:500159
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aggressive behavior OMIM:620250
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Primary microcephaly, Partial agen... OMIM:616051
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Impulsivity, Lateral ventricle dilatation, Motor stereotypy, S... OMIM:618914
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventr... OMIM:617296
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Dentici-Novelli Neurodevelopmental Syndrome
Microcephaly, Thin corpus callosum, Simplified gyral pattern, Motor stereotypy OMIM:619877
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Self-injurious behavior, Lissencephaly, Opti... ORPHA:468631
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Absent septum pe... OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Stereotypical hand wringing, Microcephaly, Cerebral cortical atrophy, Inappropriat... OMIM:614104
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Colpocephaly, V... OMIM:616034
Nizon-Isidor Syndrome
Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Agenesis of corpus c... OMIM:618872
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Secondary amen... ORPHA:572333
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Impulsivity, Agenesis of corpu... OMIM:618929
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hyperact... OMIM:620242
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Progressive microcepha... OMIM:617802
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Micr... ORPHA:314679
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Microcephaly, Perisylvian polymicrogyria, Motor stereotypy, At... OMIM:619121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Type II lissencephaly, Microcephaly, Partial absence of cerebellar vermis, Agenesi... OMIM:613150
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Motor stereotypy, Hypoplasia of the corpus ca... ORPHA:411986
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo... OMIM:620113
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Thin corpus callosum, Tongue thrusting, Recurrent hand flapping, Impulsivity, Microcephaly, Motor... OMIM:619580
21Q22.11Q22.12 Microdeletion Syndrome
Tongue thrusting, Hyperactivity, Microcephaly, Stereotypical body rocking, Agenesis of corpus cal... ORPHA:261323
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to growth hormone s... ORPHA:3464
Braddock-Carey Syndrome 1
Microcephaly, Agenesis of corpus callosum OMIM:619980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the pyramidal tract, ... OMIM:253800
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Subependymal cysts, Cerebral white matter atrophy, Recurrent ... ORPHA:3008
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Recurrent hand flapping, Microcephaly, Ventriculomegaly, Bruxism OMIM:617903
Vici Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Cerebral cortical atrophy, Agenesis of corpus call... ORPHA:1493
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Impulsivity, Microcephaly, Agenesis of corpus c... ORPHA:363528
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Microcephaly, Motor stereotypy, Self-injurious behavior, Paroxysmal bu... ORPHA:228402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Cortical dysplasia,... OMIM:615287
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Small pituitary gland, Agonadism, Infertility, Impotence, Non-obstructive azoo... ORPHA:2232
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Small cerebral cortex, Microceph... OMIM:617360
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum, Pseudobulbar paralysis OMIM:618651
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Microcephaly, Agene... OMIM:616449
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly, Cerebellar hypoplasia OMIM:618731
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Global brain atrophy, Optic nerve hypoplasia, Microcephaly, Ag... OMIM:301056
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Agenesis of corpus callosum OMIM:300004
Emanuel Syndrome
Cerebral atrophy, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Abnormal cerebral white... ORPHA:96170
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin corpus callosum, Hyperactivity, Reduced cerebral white matter volume, Parietal cortical atro... OMIM:620075
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Hyperactivity, Microcephaly, Motor ... OMIM:610883
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
16P13.11 Microdeletion Syndrome
Compulsive behaviors, Microcephaly, Agenesis of corpus callosum, Self-injurious behavior, Ventric... ORPHA:261236
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Cortical dysplasia, Motor stereotypy, Attention deficit hyperactivity disorder, Fo... OMIM:610042
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Kleefstra Syndrome Due To 9Q34 Microdeletion
Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... ORPHA:96147
Kleefstra Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Motor stereotypy, Self-inju... ORPHA:261494
Agnathia-Otocephaly Complex
Agenesis of corpus callosum OMIM:202650
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Probst bundles, Lateral ventricle dilatation OMIM:612863
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus ORPHA:2470
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Ventr... OMIM:617260
Acromelic Frontonasal Dysplasia
Ventriculomegaly, Hypoplasia of the olfactory bulb, Choroid plexus cyst, Agenesis of corpus callosum ORPHA:1827
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corpu... OMIM:248700
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Self hugging, Motor stereotypy, Ventriculomegaly, Onychotillomania, ... OMIM:182290
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Thin corpus callosum, Hydrocephalus, Microcephaly, Colpocephaly, Se... OMIM:619833
Coffin-Siris Syndrome 6
Attention deficit hyperactivity disorder, Periventricular leukomalacia, Tics, Motor stereotypy OMIM:617808
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Thin corpus callosum, Hyperactivity, Hydrocephalus, Compulsive behaviors, Fr... OMIM:619512
Trisomy 1Q
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum ORPHA:261344
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
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Compulsive behaviors, Agenesis of corpus callosum, Aggressive behavior OMIM:309520
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Ventriculomegaly, Thin corpus callosum, Motor stereotypy OMIM:618205
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Dysphagia, Motor stereotypy, Abnorm... ORPHA:79264
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Fumarase Deficiency
Cerebral atrophy, Polymicrogyria, Choroid plexus cyst, Open operculum, Microcephaly, Agenesis of ... OMIM:606812
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on M... ORPHA:565624
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Microcephaly, Agenesis of corpus callo... ORPHA:35107
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Immunodeficiency 49
Agenesis of corpus callosum, Reduced cerebral white matter volume OMIM:617237
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Abnormal basal ganglia morp... ORPHA:157
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Dilated third ventr... ORPHA:464738
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Abnormal basal ganglia morp... ORPHA:228308
Joubert Syndrome 3
Thin corpus callosum, Cerebellar vermis hypoplasia, Frontal polymicrogyria, Enlarged fossa interp... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, ... OMIM:236670
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Galloway-Mowat Syndrome 6
Microcephaly, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen... ORPHA:322
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Thin corpus callosum, Impulsivity, Lateral ventricle dilatation, Attentio... OMIM:617854
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Microcephaly, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:1812
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Agenesis of c... OMIM:222448
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Optic nerve hypoplasia, Hydrocephalus, Olivopon... ORPHA:457284
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Pancreatic atrophy, ... OMIM:137920
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Micro... OMIM:618606
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Micropenis, Hypospadias, Endometriosis ORPHA:363444
Toriello-Carey Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Abnormal corpus c... ORPHA:3338
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Peris... OMIM:618291
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Stereotypical hand wringing, Skin-picking, Motor stereotypy, Self-injurious behavi... OMIM:600430
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Agenesis of corpus callosum ORPHA:220493
Birk-Landau-Perez Syndrome
Microcephaly, Pachygyria, Agenesis of corpus callosum OMIM:617595
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Enlarged fossa interpeduncularis, Motor s... OMIM:610688
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Secondary microcephaly, Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Self-inj... OMIM:300986
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Cerebral hypoplasia, Microcephaly, Hypodysplasia of the... OMIM:257300
Holoprosencephaly 5
Microcephaly, Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Hydrocephalus, Dandy-Walker malformation, Microcephaly, ... OMIM:619895
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Microcephaly, Motor stereotypy OMIM:619092
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Presacral teratoma OMIM:176450
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Hyperactivity, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum,... OMIM:619148
Curry-Jones Syndrome
Megalencephaly, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:601707
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Self-injurious... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... OMIM:618825
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Cerebral cortical atrophy, Partial agenesis of the corpus callosum OMIM:234050
Lamb-Shaffer Syndrome
Microcephaly, Abnormal temper tantrums, Hyperactivity, Motor stereotypy ORPHA:530983
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Cach Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, Cerebral atrophy, Dysgyria, Mic... ORPHA:135
Duplication Of The Pituitary Gland
Microcephaly, Agenesis of corpus callosum, Self-mutilation, Hypoplasia of olfactory tract ORPHA:314621
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hypospadias, Renal cell carcinoma, Bicor... ORPHA:93111
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Hyperactivity, Compulsive behaviors, Microcephaly, Abnormal drinking beh... ORPHA:209905
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the uterus, Cryptorchidi... ORPHA:3138
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Impulsivity, Agenesis of corpus callosum, Attention deficit hyperactiv... ORPHA:96092
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Periventricular white matter hyperintensities, Obsessive-compulsive trait, Hype... ORPHA:168491
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Hypoplasminogenemia
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Adams-Oliver Syndrome 2
Cerebral atrophy, Hydrocephalus, Polymicrogyria, Microcephaly, Lateral ventricle dilatation, Cere... OMIM:614219
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Ventriculomegaly, Microcephaly, Motor stereotypy, Attention defic... ORPHA:819
Sotos Syndrome
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Ventriculomegaly, Partial agen... OMIM:117550
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Microcephaly, Agenesis of co... OMIM:243605
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Polymicrogyria, Intracerebral periventricular calcifications, Microcephaly, ... OMIM:608836
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b... ORPHA:313892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ... OMIM:613154
Alexander Disease
Aqueductal stenosis, Megalencephaly, Hydrocephalus, Cerebral calcification, Dysphagia, Agenesis o... ORPHA:58
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Bruxism, Motor stereotypy OMIM:616351
Desmosterolosis
Hydrocephalus, Microcephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Partial... OMIM:602398
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Lateral ventricle dilatation OMIM:600721
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Abnormal ovarian physiology, Premature pubarche, Precocious puberty in fema... ORPHA:90794
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina OMIM:300707
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Abnormal periventric... ORPHA:572798
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Cavum septum pellucidum, Abnormal corpus callosum morphology, Abnormal ... ORPHA:457279
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of the brainstem, Lateral ventric... ORPHA:420179
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Self-mutilation, Motor stereotypy ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cerebellar vermis hypoplasia, Hyperactivity, Motor stereotypy, Cerebellar hypoplasia, Ventriculom... OMIM:300486
Rett Syndrome, Congenital Variant
Hypoplasia of the corpus callosum, Tongue thrusting, Progressive microcephaly, Simplified gyral p... OMIM:613454
Chromosome 14Q11-Q22 Deletion Syndrome
Hypoplasia of the corpus callosum, Thin corpus callosum, Lateral ventricular asymmetry, Microceph... OMIM:613457
Neurooculorenal Syndrome
Aqueductal stenosis, Thin corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocep... OMIM:620305
Leigh Syndrome
Hypoplasia of the corpus callosum, Neuronal loss in basal ganglia, Diffuse spongiform leukoenceph... ORPHA:506
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microcephaly, Agenesis of corpus ca... OMIM:605039
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dila... ORPHA:1692
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cortical dysplasi... ORPHA:356961
Opitz Gbbb Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Dysphagia, Agenesis of corpus callosum OMIM:300000
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:614105
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, Agenesis of corpus callosum ORPHA:87
Orofaciodigital Syndrome V
Microcephaly, Agenesis of corpus callosum, Overfriendliness OMIM:174300
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop... ORPHA:69085
Monosomy 13Q34
Microcephaly, Agenesis of corpus callosum ORPHA:96168
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
1Q21.1 Microdeletion Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... OMIM:618419
Intellectual Developmental Disorder, X-Linked 98
Secondary microcephaly, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Ster... OMIM:300912
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Teratoma, Splenopa... OMIM:269150
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Focal polymicrogyria, Aplasia/Hypop... OMIM:612651
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Abnormality of the uterus, Vagin... ORPHA:1655
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:217980
Heterotaxy, Visceral, 2, Autosomal
Microcephaly, Agenesis of corpus callosum OMIM:605376
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Thakker-Donnai Syndrome
Agenesis of corpus callosum, Communicating hydrocephalus ORPHA:1780
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin corpus callosum, Hypoplasia of the pons, Motor stereotypy, Overfriendliness, Attention defic... OMIM:619293
Alazami Syndrome
Self-mutilation, Abnormal eating behavior, Motor stereotypy, Stereotypical hand wringing ORPHA:319671
Encephalocraniocutaneous Lipomatosis
Cerebral atrophy, Cerebral calcification, Subcortical cerebral atrophy, Cerebral cortical atrophy... ORPHA:2396
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebellar vermis hypoplasia, Polymicr... ORPHA:261552
Meacham Syndrome
Blind vagina, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism OMIM:608978
Orofaciodigital Syndrome Type 5
Microcephaly, Agenesis of corpus callosum ORPHA:2919
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Microcephaly, Agitation, Motor stereotypy ORPHA:927
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Microcephaly, Dysphagia, Motor stereotypy, Attention deficit hyperactivity ... OMIM:617061
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy OMIM:619317
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Motor stereotypy OMIM:618067
Microform Holoprosencephaly
Microcephaly, Agenesis of corpus callosum ORPHA:280200
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
Intellectual Developmental Disorder, Autosomal Dominant 38
Cerebral atrophy, Hair-pulling, Microcephaly, Motor stereotypy, Self-injurious behavior, Bruxism,... OMIM:616393
Pseudo-Torch Syndrome 2
Cerebral calcification, Polymicrogyria, Microcephaly, Lateral ventricle dilatation, Cerebellar hy... OMIM:617397
Acrorenal-Mandibular Syndrome
Uterus didelphys, Absent nipple, Bicornuate uterus, Unicornuate uterus OMIM:200980
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Microcephaly, Cerebral cortical atrophy, Motor stereotypy OMIM:619428
Cri-Du-Chat Syndrome
Hyperactivity, Microcephaly, Oppositional defiant disorder, Motor stereotypy, Overfriendliness, S... OMIM:123450
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Ventriculomegaly, Motor stereotypy ORPHA:10
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Microcephaly, Self-injurious behavior, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:847
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Microcephaly, Dysphagia, Repetitive compulsive behavior, Motor stereotypy, Bruxism OMIM:300260
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Motor stereotypy, Attention def... ORPHA:449291
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Microcephaly, Motor stereotypy, Pica OMIM:617796
Opitz Gbbb Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Abnormal corpus callosum morphology... ORPHA:2745
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:85201
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Microcephaly, Dilated fourth ventricle, Lateral ventricle dilatation, ... ORPHA:3078
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Aicardi Syndrome
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Polymicrogyria,... OMIM:304050
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Optic nerve hypoplasia, Choroid plexu... OMIM:603671
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum OMIM:618733
22Q11.2 Duplication Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1727
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:123790
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypoplasia of the corpus callosum, Global brain atrophy, Microcephaly, Cerebral cortical atrophy,... ORPHA:457351
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens ORPHA:411709
White-Sutton Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Thin corpus callosum, Hyperactivity, Optic n... OMIM:616364
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Compulsive behaviors, Motor stereotypy OMIM:618027
Pagod Syndrome
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Agonadism, A... ORPHA:991
Rett Syndrome
Agitation, Progressive microcephaly, Stereotypical hand wringing, Motor stereotypy, Bruxism, Prim... ORPHA:778
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Periventricular leukomalacia, Thin corpus callosum, Hydranencephaly, Hydrocephalus, Polymicrogyri... OMIM:620371
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:618430
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Hydrocephalus, Dilated third ventricle, Frequent temper tantrums, Motor stereotypy,... OMIM:619575
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Optic nerve hypoplasia, Microcep... ORPHA:508498
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Absent gallbladder, Septate vagina, Hamartoma of tongue, Micropenis OMIM:617925
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Septo-optic dysplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal... OMIM:301043
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a... ORPHA:2822
Apert Syndrome
Megalencephaly, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomega... OMIM:101200
Den Hoed-De Boer-Voisin Syndrome
Secondary microcephaly, Global brain atrophy, Agitation, Stereotypical hand wringing, Microcephal... OMIM:619229
Phelan-Mcdermid Syndrome
Tongue thrusting, Abnormal periventricular white matter morphology, Microcephaly, Motor stereotyp... OMIM:606232
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Microcephaly, Dysphagia, Lateral ventricle dilatation, Primary microcephaly OMIM:619847
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Pelizaeus-Merzbacher Disease
Global brain atrophy, Thin corpus callosum, Cerebral dysmyelination, Microcephaly, Reduction of o... OMIM:312080
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Atte... OMIM:227646
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia OMIM:614866
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:93317
Coffin-Siris Syndrome
Hyperactivity, Dandy-Walker malformation, Microcephaly, Simplified gyral pattern, Agenesis of cor... ORPHA:1465
Cerebral Creatine Deficiency Syndrome 1
Hypoplasia of the corpus callosum, Microcephaly, Motor stereotypy, Attention deficit hyperactivit... OMIM:300352
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:314585
Melas
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Cerebral cort... ORPHA:550
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
White-Sutton Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Subcortical cerebral atrophy, Compulsive behavi... ORPHA:468678
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Bicornuate... ORPHA:84
Toriello-Lacassie-Droste Syndrome
Absent septum pellucidum, Agenesis of corpus callosum ORPHA:3339
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Abnormal basal ganglia morphology, Open ... ORPHA:397715
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Colpocephaly, Dysphagia, Ventriculomegaly ORPHA:261250
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Polymicrogyria, Porencephalic cyst, Agenesis of corpus callosum OMIM:277170
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum,... OMIM:151050
Marshall-Smith Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Hydrocephalus, Optic nerve hypoplasia, Pachy... OMIM:602535
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Marden-Walker Syndrome
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Attention deficit hyperactivity disorde... ORPHA:2461
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619418
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, A... ORPHA:99776
Bainbridge-Ropers Syndrome
Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping... OMIM:615485
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Microcephaly, Motor stereotypy, Overfriendliness OMIM:616579
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Attention deficit hyperactivity disorder, Agenesis of corpus callosum OMIM:618748
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... OMIM:263650
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Hypoplasia of the corpus cal... OMIM:618500
Vici Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Schizencephaly, Dysphagia, Agenesis of corpus callosum OMIM:242840
Microsporidiosis
Abnormality of the parathyroid gland, Abnormal endometrium morphology, Prostatitis, Abnormal fall... ORPHA:2552
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Pitt-Hopkins Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly, Motor stereotypy, Self-i... OMIM:610954
Trichothiodystrophy
Periventricular leukomalacia, Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, V... ORPHA:33364
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microcephaly, Agenesis of corpus ca... ORPHA:97297
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Pancreatic Agenesis-Holoprosencephaly Syndrome
Agenesis of corpus callosum ORPHA:556955
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity d... ORPHA:476126
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Cerebral white matter atrophy, Motor stereotypy ORPHA:435638
Ulnar-Mammary Syndrome
Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate hymen, Bicornu... OMIM:181450
Microphthalmia, Syndromic 3
Microcephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:206900
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Orofaciodigital Syndrome I
Cerebral atrophy, Abnormal cortical gyration, Hydrocephalus, Porencephalic cyst, Microcephaly, Ag... OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Poly... OMIM:210710
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Periventricular leukomalacia, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral v... ORPHA:293725
Aicardi Syndrome
Polymicrogyria, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, Ventriculomega... ORPHA:50
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Partial agenesis of the corpus callosum OMIM:617478
Craniofrontonasal Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:304110
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Secondary microcephaly, Hair-pulling, Hyperactivity, Dysphagia... ORPHA:447997
Opitz-Kaveggia Syndrome
Attention deficit hyperactivity disorder, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Monosomy 22Q13.3
Hyperactivity, Bruxism, Hair-pulling, Agenesis of corpus callosum ORPHA:48652
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral cortical atrophy, Dysphagia, ... ORPHA:496641
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Rauch-Steindl Syndrome
Microcephaly, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619695
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callo... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iia
Stereotypical hand wringing, Microcephaly, Motor stereotypy, Cerebellar hypoplasia, Self-mutilati... OMIM:212066
Spondyloenchondrodysplasia
Cerebral calcification, Ventriculomegaly, Abnormal lateral ventricle morphology, Abnormal periven... ORPHA:1855
Kleefstra Syndrome 1
Microcephaly, Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:610253
14Q22Q23 Microdeletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:264200
Jacobsen Syndrome
Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Attention deficit hyperactivity disord... ORPHA:2308
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Gabriele-De Vries Syndrome
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Abnormal cerebral white matter morp... ORPHA:506358
2Q37 Microdeletion Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1001
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... OMIM:229850
Koolen-De Vries Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Inappropriate laughter, Agenesis ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Inappropriate laughter, Agenesis ... ORPHA:363958
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Cerebral cortical atrophy, Microcep... ORPHA:177907
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis OMIM:614075
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Open operculum, Dilated third ventr... ORPHA:434179
Meckel Syndrome, Type 1
Anencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebral hypoplasia, Microcephaly, Dilated... OMIM:249000
Holoprosencephaly 7
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem, Partial ag... OMIM:610828
Norrie Disease
Erectile dysfunction, Neoplasm of the eye, Cryptorchidism, Uterine rupture, Vascular neoplasm ORPHA:649
Phace Syndrome
Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Cer... ORPHA:42775
Coffin-Siris Syndrome 4
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:614609
Aicardi-Goutieres Syndrome 9
Cerebral atrophy, Cerebral calcification, Diffuse leukoencephalopathy, Microcephaly, Basal gangli... OMIM:619487
Chromosome 1P36 Deletion Syndrome, Distal
Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Polyphagia, Cerebral cortical a... OMIM:607872
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Trisomy 8P
Microcephaly, Dandy-Walker malformation, Hydrocephalus, Agenesis of corpus callosum ORPHA:264450
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619194
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Ventriculomegaly, Motor stereotypy ORPHA:261197
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Global brain atrophy, Hyperactivity, Dandy-Walker malformation... OMIM:270400
Developmental And Epileptic Encephalopathy 100
Cerebral atrophy, Thin corpus callosum, Polymicrogyria, Dysphagia, Pachygyria, Motor stereotypy, ... OMIM:619777
Cog5-Cdg
Microcephaly, Cerebral white matter atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation ORPHA:263487
1P36 Deletion Syndrome
Polyphagia, Cerebral cortical atrophy, Microcephaly, Dysphagia, Agenesis of corpus callosum, Moto... ORPHA:1606
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Chromosome 13Q14 Deletion Syndrome
Hypoplasia of the corpus callosum, Absent septum pellucidum, Agenesis of corpus callosum OMIM:613884
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Septo-optic dysplasia, Communicating hydrocephalus, Microcephaly, A... OMIM:619841
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome
Absent septum pellucidum, Abnormal cortical gyration, Agenesis of corpus callosum ORPHA:2538
Wolf-Hirschhorn Syndrome
Cavum septum pellucidum, Hydrocephalus, Microcephaly, Periventricular cysts, Agenesis of corpus c... OMIM:194190
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology ORPHA:217260
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... OMIM:620494
Transketolase Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... ORPHA:488618
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis OMIM:219000
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
7Q11.23 Microduplication Syndrome
Hyperactivity, Hydrocephalus, Polyphagia, Collectionism, Simplified gyral pattern, Motor stereoty... ORPHA:96121
Choreoacanthocytosis
Self-injurious behavior, Abnormal putamen morphology, Aggressive behavior, Socially inappropriate... ORPHA:2388
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2658
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Okamoto Syndrome
Bifid uterus ORPHA:2729
Alobar Holoprosencephaly
Hydrocephalus, Microcephaly, Dysphagia, Agenesis of corpus callosum, Attention deficit hyperactiv... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Microcephaly, Dysphagia, Agenesis of corpus callosum, Attention deficit hyperactiv... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Microcephaly, Dysphagia, Agenesis of corpus callosum, Attention deficit hyperactiv... ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Microcephaly, Dysphagia, Agenesis of corpus callosum, Attention deficit hyperactiv... ORPHA:220386
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Primary microcephaly, Microcephaly, Cerebral co... ORPHA:464306
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Agenesis of corpus callosum ORPHA:306542
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Acrocallosal Syndrome
Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:200990
Megalocornea-Intellectual Disability Syndrome
Microcephaly, Motor stereotypy ORPHA:2479
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Kinsship Syndrome
Dandy-Walker malformation, Microcephaly, Motor stereotypy, Ventriculomegaly, Bruxism, Primary mic... OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Motor stereotypy, Att... ORPHA:464311
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Partial agenesis of the corpus callosum OMIM:300373
Hartsfield Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:615465
Wiedemann-Steiner Syndrome
Hyperactivity, Abnormal corpus callosum morphology, Microcephaly, Dysphagia, Motor stereotypy, Ag... ORPHA:319182
Monosomy 9P
Microcephaly, Agenesis of corpus callosum ORPHA:261112
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Stereotypical body rocking, Pachygyria, Motor st... ORPHA:513456
Wolf-Hirschhorn Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:280
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Repetitive compulsive behavior, Motor stereotypy, Self-mutilation, Self-biting ORPHA:522077
Developmental And Epileptic Encephalopathy 2
Progressive microcephaly, Motor stereotypy OMIM:300672
Niemann-Pick Disease, Type C2
Motor stereotypy, Neurofibrillary tangles, Dysphagia OMIM:607625
Holoprosencephaly 1
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:236100
Genitopatellar Syndrome
Thin corpus callosum, Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Polym... OMIM:615948
Neurocardiofaciodigital Syndrome
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplasia, Microce... OMIM:619869
Orofaciodigital Syndrome Type 1
Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:2750
Microphthalmia With Linear Skin Defects Syndrome
Microcephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2556
Holoprosencephaly 9
Thin corpus callosum, Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Lateral ... OMIM:610829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:226307
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Microcephaly, Ventriculomegaly, Motor stereotypy, Hypoplasia of the corpus callosum ORPHA:508533
Rubinstein-Taybi Syndrome 1
Hyperactivity, Impulsivity, Microcephaly, Agenesis of corpus callosum, Hyperintensity of cerebral... OMIM:180849
Degcags Syndrome
Oral-pharyngeal dysphagia, Microcephaly, Choking episodes, Agenesis of corpus callosum, Ventricul... OMIM:619488
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy OMIM:615656
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Colpocephaly, Dysphagia, Ventriculomegaly OMIM:618460
Ring Chromosome 13 Syndrome
Microcephaly, Anencephaly, Agenesis of corpus callosum ORPHA:96176
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Mowat-Wilson Syndrome
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Abnormal corp... OMIM:235730
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism ORPHA:93271
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Colpocephaly, Abnormal cerebral white matter m... ORPHA:75857
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Abnormal salivary gland morphology, Cryptorchidism, Bicornuate uterus ORPHA:2363
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Dysphagia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618367
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Agitation, Restrictive behavior, Hyperactivity, Hydrocephalus, Compulsive behaviors, Impulsivity,... OMIM:619475
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Polyphagia, Compulsive behaviors, Dysphagia, Lateral ventricle dilatation, Motor s... OMIM:615873
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Thin corpus callosum, Partial agenesis of the corpus callosum OMIM:619480
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebellar vermis hypoplasia, Polymicr... ORPHA:261537
Simpson-Golabi-Behmel Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:373
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... ORPHA:2273
Yunis-Varon Syndrome
Hydrocephalus, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Pachygyria, Cerebell... ORPHA:3472
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Septo-optic dysplasia ORPHA:95494
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Microcephaly, Cerebral atrophy, Motor stereotypy OMIM:301040
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Impulsivity, Microcephaly, Motor stereotypy, Attention deficit hyperactivity di... OMIM:301030
Peters Plus Syndrome
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypoplasia of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Microcephaly, Motor stereotypy, Hypoplasia of the corpus callosum OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperactivity, Microcephaly, Motor stereotyp... OMIM:309590
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation, Dysphagia, Agenesis of corpus callosum OMIM:264090
Coffin-Siris Syndrome 1
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Compulsive behaviors, Microcephaly,... OMIM:135900
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia ORPHA:477993
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Microcephaly, Simplified gyral pattern, Dysphagia, Partial agenesis... OMIM:220111
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts, Facial capillary hemangioma OMIM:274000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atroph... OMIM:300868
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Global brain atrophy, Ischemic s... ORPHA:500150
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,... OMIM:261540
Baller-Gerold Syndrome
Hydrocephalus, Polymicrogyria, Optic nerve hypoplasia, Agenesis of corpus callosum OMIM:218600
Mowat-Wilson Syndrome
Hypoplasia of the corpus callosum, Focal white matter lesions, Cerebellar vermis hypoplasia, Poly... ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Thyroid hypoplasia,... OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Polyphagia, Micr... OMIM:620330
Femoral-Facial Syndrome
Ventriculomegaly, Agenesis of corpus callosum OMIM:134780
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Bicornuate uterus, Cavernou... OMIM:268300
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Microcephaly, Cerebellar vermis hypoplasia, Colpocephaly OMIM:620083
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Hy... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Hy... ORPHA:353277
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Self-mutilation, Motor stereotypy OMIM:619005
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the uterus, Primary amenorr... ORPHA:199
Focal Dermal Hypoplasia
Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:305600
Holoprosencephaly 2
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:157170
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Hyperactivity, Impulsivity, Communicating hydrocephalus, Oppositional d... ORPHA:580
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Abnormal corpus striatum morphology, ... ORPHA:3455
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias, Aplasia... ORPHA:672
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypoplasia of the thymus, Abnormality of the ute... ORPHA:567
Townes-Brocks Syndrome
Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum... ORPHA:857
Hypotonia, Ataxia, And Delayed Development Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Dysphagia, Motor stereotypy OMIM:617330
Ogden Syndrome
Cerebral atrophy, Microcephaly, Dysphagia, Motor stereotypy, Ventriculomegaly OMIM:300855
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse ORPHA:287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Uterine prolapse, Abnormality of the anterior pituitary, Increased circulatin... ORPHA:438213
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation, ... OMIM:300896
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Secondary microcephaly, Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impu... ORPHA:353281
Lowe Oculocerebrorenal Syndrome
Ventriculomegaly, Motor stereotypy, Periventricular cysts, Aggressive behavior OMIM:309000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Aggressive behavior OMIM:301066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Hippocampal atrophy, Cerebral cortical atrophy, Motor stereotypy, Attention defici... OMIM:614756
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:312870
Oculocerebrorenal Syndrome Of Lowe
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... ORPHA:534
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Microcephaly, Motor stereotypy, Hypoplasia of the corpus callosum OMIM:301044
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Arboleda-Tham Syndrome
Microcephaly, Primary microcephaly, Dysphagia, Motor stereotypy OMIM:616268
Primrose Syndrome
Hypoplasia of the corpus callosum, Cerebral calcification, Tics, Restlessness, Motor stereotypy, ... OMIM:259050
Yunis-Varon Syndrome
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hypoplasia of the frontal lobes,... OMIM:216340
Keppen-Lubinsky Syndrome
Microcephaly, Lateral ventricle dilatation OMIM:614098
Coffin-Siris Syndrome 12
Microcephaly, Hippocampal atrophy, Noncommunicating hydrocephalus, Motor stereotypy OMIM:619325
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Motor stereotypy OMIM:616682
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse OMIM:613795
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microcephaly, Self-injurious behavior, Motor stereotypy OMIM:612474
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Nmda Receptor Encephalitis
Agitation, Hypersexuality, Motor stereotypy ORPHA:217253
Craniofacial Microsomia 1
Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy OMIM:619522

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 Cables1

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 Cables1.

No publications found that use IMPC mice or data for Cables1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cables1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cables1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cables1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cables1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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