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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... ORPHA:171703
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Isolated Corpus Callosum Agenesis
Dysphagia, Agenesis of corpus callosum ORPHA:200
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Prostate cancer, Duodenal adenocarc... OMIM:616415
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:610031
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention def... OMIM:618286
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... 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
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Cervical Cancer
Cervix cancer, Neoplasm OMIM:603956
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Focal polymicrogyria, Hypoplasia o... OMIM:615771
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus... OMIM:618492
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Attention deficit hyperactiv... OMIM:618709
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Hypo... OMIM:611603
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Dysg... ORPHA:300573
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... 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
Hydrocephalus, Abnormality of the anterior commissure, Hypoplasia of the pons, Agenesis of corpus... OMIM:617542
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... 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
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Abnormality of the anterior c... 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 leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Thyroid carcinoma, Endometrial carcinoma, Prostate cancer, Duodena... ORPHA:157794
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus c... ORPHA:85179
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
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
Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... OMIM:273250
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Thin corp... OMIM:620200
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617090
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Compulsi... ORPHA:500166
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Intellectual Developmental Disorder, Autosomal Recessive 37
Microcephaly, Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:616570
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Ventriculomegaly, Recurrent hand flapping, Hypoplasia of the corpus ca... OMIM:617862
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A... ORPHA:255182
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic nerve hypoplasia, Dysgenesis of the basal g... ORPHA:171680
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616540
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosu... OMIM:615282
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus callosum, Cereb... OMIM:304100
Usmani-Riazuddin Syndrome, Autosomal Recessive
Aggressive behavior, Agenesis of corpus callosum OMIM:619548
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Metrorrhagia, Abnormal e... ORPHA:314478
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, P... OMIM:619302
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Progressive micro... OMIM:618959
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Masa Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Perrault Syndrome 4
Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating gonadotropin l... OMIM:615300
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Motor stereotypy OMIM:606053
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo... ORPHA:201
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Microcephaly, Aggressive behavior, Hyperactivity, ... OMIM:619470
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia... OMIM:618325
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Autosomal Recessive Primary Microcephaly
Ventriculomegaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pac... ORPHA:2512
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Septo-optic dysp... ORPHA:1528
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Nephroblasto... OMIM:194072
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Opti... OMIM:218670
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Microcephaly, Aggressive behavior... OMIM:309548
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Primary microcephaly, Agenesis of corpus callosum OMIM:616681
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:166024
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Foxg1 Syndrome
Abnormal corpus callosum morphology, Bruxism, Hypoplasia of the corpus callosum, Agenesis of corp... ORPHA:561854
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar h... OMIM:615095
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Aggressive behavior, Hyperactivity OMIM:615286
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Hypoplasia of the olfactory bulb, Optic nerve hypoplasia, Lateral v... ORPHA:300570
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy... 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
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ventriculomegaly, Bruxism, Inappropriate laughter, Microcephaly, Aggressive behavior, Motor stere... OMIM:619150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Age... OMIM:613153
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
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
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:617695
Developmental And Epileptic Encephalopathy 107
Microcephaly, Progressive microcephaly, Motor stereotypy OMIM:620033
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Cerebral cortical atrophy, Motor stereotypy, Hypoplasia of the corpus ca... OMIM:617820
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Melanoma, Endometrial carcinoma, 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
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Microhydranencephaly
Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Self-mutilation, Agenesis of corp... OMIM:605013
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Lateral ventricle dilatation, Microcephaly, Partial agenesis of the corpus callosum... OMIM:619517
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Partial agenesis o... OMIM:616171
Estrogen Resistance
Primary amenorrhea, Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
N-Acetylaspartate Deficiency
Secondary microcephaly, Microcephaly, Motor stereotypy, Self-mutilation OMIM:614063
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:615723
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:600118
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,... OMIM:620315
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:604804
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Lissencephaly 6 With Microcephaly
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Microlissencep... OMIM:616212
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co... OMIM:604360
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Ventriculomegaly, Motor stereotypy, Hypoplasia of the corpus callosum ORPHA:85277
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Motor stereotypy OMIM:617830
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Metrorrh... ORPHA:370348
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... ORPHA:432
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Ventriculomegaly, Neuronal loss in the cerebral cortex, Agenesis of corpus c... ORPHA:168486
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, A... OMIM:618603
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Thin corpus callosum, Motor stereotypy, Cerebral atrophy OMIM:619690
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Ventriculomegaly, Cerebral atrophy, Dilated fourth ventricle, Agenesis of co... OMIM:620428
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2182
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the optic tract, Hypoplasia of the pon... ORPHA:500144
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Joubert Syndrome 30
Polymicrogyria, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:617622
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Frontotemporal cerebral atrophy, Inappropriate behavior, Disinhibition, Agg... ORPHA:275864
Steinert Myotonic Dystrophy
Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Decreased response to growth hormone sti... ORPHA:273
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agyria, Lissencephaly OMIM:616342
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Decreased fertility, Primary ... ORPHA:243
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebe... ORPHA:228384
Septooptic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of 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
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Agenesis of corpus callosum,... OMIM:617669
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microliss... 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
Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpu... OMIM:225790
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissenceph... OMIM:614833
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Baraitser-Winter Syndrome 2
Ventriculomegaly, Secondary microcephaly, Agenesis of corpus callosum, Pachygyria, Lissencephaly OMIM:614583
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Attention deficit hyperactivity disorder, Agenesis of corpus callosum OMIM:615433
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum OMIM:300406
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrhea, Increased circulating gonadot... ORPHA:785
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Tongue thrusting, Corpus ca... ORPHA:77299
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
4Q21 Microdeletion Syndrome
Self-injurious behavior, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Mo... ORPHA:238750
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:164180
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... 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 hypoplasia, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Pri... OMIM:607196
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly OMIM:312170
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Decreased fertility, C... ORPHA:90796
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria, ... OMIM:620316
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Subependymal cysts OMIM:245349
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Hemangi... ORPHA:83628
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Glabellar hemangiom... OMIM:164745
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Ovarian cyst, Multiple gastric polyps, Precocious p... OMIM:175200
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P... OMIM:616819
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
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Inappropriate behavior, Basa... OMIM:221770
Chromosome 3Q29 Deletion Syndrome
Microcephaly, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor... ORPHA:86822
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Hypoplasia of the pons, Polymicrogyria, Typ... ORPHA:370959
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:251056
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:218350
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Hypoplasia of the corpus callosum, Agenesis of 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
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... OMIM:615249
Lissencephaly, X-Linked, 2
Pachygyria, Ventriculomegaly, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Intellectual Developmental Disorder, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Secondary microcephaly, Bruxism, Recurrent hand flapping, ... OMIM:613192
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Ventriculomegaly, Cavum se... OMIM:619074
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessne... OMIM:600795
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu... OMIM:620352
Intellectual Developmental Disorder, Autosomal Recessive 39
Microcephaly, Aggressive behavior, Motor stereotypy, Hyperactivity 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, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Microcephaly, Motor stereotypy, Hyperactivity, Paroxysmal burst... OMIM:618718
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cerebral atrophy, Stereotypical hand wringing, Progressive microcephaly,... OMIM:618917
Christianson Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Inappropr... ORPHA:85278
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Hypoplas... OMIM:607596
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
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
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Houge-Janssens Syndrome 2
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, H... OMIM:616362
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Intellectual Developmental Disorder, Autosomal Dominant 22
Bruxism, Stereotypical hand wringing, Agenesis of corpus callosum, Microcephaly, Choroid plexus cyst OMIM:612337
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Di... OMIM:607485
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Secondary microcephaly, Motor stereotypy, Cerebral atrophy OMIM:617393
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:452
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul... OMIM:615889
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity disorder, Compu... OMIM:619320
Temtamy Syndrome
Ventriculomegaly, Thick corpus callosum, Self-mutilation, Agenesis of corpus callosum OMIM:218340
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co... ORPHA:280763
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Bruxism, Caudate atrophy, Dysphagia, Motor stereotypy, Agitation OMIM:617435
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Microce... OMIM:619103
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... ORPHA:90793
Ring Chromosome 12 Syndrome
Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hemangioma, Uterine leiomyoma ORPHA:1439
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Diffuse white matter abnormalities, Lateral ventricle dilatation, Oral-p... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria 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
Agenesis of corpus callosum, Cerebellar hypoplasia, Impulsivity, Aggressive behavior, Mild fetal ... OMIM:619435
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Abnormal periventricular white matter morphology, Microcephaly, Attentio... OMIM:619725
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebral atrophy, Inappropriate laughter, Hypoplasia of the corpus ... OMIM:615802
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Hypoplasia of the bra... OMIM:617751
Chiari Malformation Type Ii
Dysphagia, Hydrocephalus, 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
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618142
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypo... OMIM:175700
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618619
Cerebrooculofacioskeletal Syndrome 1
Ventriculomegaly, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atro... 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
Irregular menstruation, Exostoses, Uterine leiomyoma OMIM:616482
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Agenesis of corpus callosum OMIM:613174
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Lissen... ORPHA:99742
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Optic nerve hypopl... OMIM:618890
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:607131
Ehlers-Danlos Syndrome, Classic-Like, 1
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis... OMIM:620073
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Bruxism OMIM:615716
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Ventriculomegaly, Agenesis of corpus callosum OMIM:218000
Subependymal Nodular Heterotopia
Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria ORPHA:101030
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia ... OMIM:617807
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Aggressive behavior, Abnormal cerebral white mat... ORPHA:391307
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Bruxism, Hypoplasia of the ... OMIM:618004
Ring Chromosome 22 Syndrome
Inappropriate behavior, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:1446
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Microcephaly, Attention deficit hyperactivity disorder, Aggressive beha... OMIM:620141
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma, Thyroid carcinoma, Intestinal polyp... ORPHA:109
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Ventriculomegaly, Bruxism, Microcephaly, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:618342
Prune Belly Syndrome
Abnormality of the uterus, Decreased testicular size, Decreased fertility, Cryptorchidism, Urogen... ORPHA:2970
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Cerebral calcification, Inappropriate laughter, Agenesis of corpus callosum, Ce... OMIM:618476
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of... 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, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... OMIM:620292
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum OMIM:140000
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:613735
Houge-Janssens Syndrome 3
Self-injurious behavior, Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus ... OMIM:618354
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of th... OMIM:616975
Curry-Jones Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:1553
Walker-Warburg Syndrome
Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent septum pellucidum, Agenesis ... ORPHA:899
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebral cortical atrophy, Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus cal... OMIM:619720
Xq28 (MECP2) duplication
Microcephaly, Motor stereotypy, Dysphagia, Hypoplasia of the corpus callosum DECIPHER:45
Autism Spectrum Disorder Due To Auts2 Deficiency
Microcephaly, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypoplasia ... OMIM:614643
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Ventriculomegaly, Motor stereotypy OMIM:615637
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Gliosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:616239
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Baraitser-Winter Syndrome 1
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Pachygyria, Lissencephaly OMIM:243310
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Partial agenesis of the corpus ca... OMIM:619775
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Attention deficit hyperactivity disord... ORPHA:459061
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha... OMIM:613001
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Microcephaly, Attention deficit hyperactivity disorder, Aggressive b... 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
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
Septo-Optic Dysplasia Spectrum
Polydipsia, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cere... ORPHA:3157
Intellectual Developmental Disorder, Autosomal Recessive 65
Aggressive behavior, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum OMIM:618109
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Abnormal periventricular white mat... ORPHA:500159
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620250
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:616051
Hydrolethalus
Hydrocephalus, Anencephaly, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Aggress... OMIM:618914
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C... OMIM:617296
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Cerebral hypoplasia, Optic nerve hypoplasia, Ventriculomegaly, Hypoplasi... ORPHA:468631
Dentici-Novelli Neurodevelopmental Syndrome
Microcephaly, Thin corpus callosum, Motor stereotypy, Simplified gyral pattern OMIM:619877
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Optic nerve hy... OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Microcephaly, Hyp... OMIM:614104
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly... OMIM:616034
Nizon-Isidor Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum,... OMIM:618872
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ce... ORPHA:284417
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Impulsivity, Agenesis of corpu... OMIM:618929
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Cerebellar vermis hypoplasia, Secondary microcephaly, Hypoplasia of the corpus callosum, Aggressi... OMIM:620242
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral cortical atrophy, Global brain atrophy, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:617802
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Cerebrofacioarticular Syndrome
Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus... ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum... OMIM:613150
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hyperactivit... OMIM:619121
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Motor stereotypy, Hypoplasia of the pons, Hypoplasia of the corpus ca... ORPHA:411986
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph... 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
Ventriculomegaly, Recurrent hand flapping, Microcephaly, Attention deficit hyperactivity disorder... OMIM:619580
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Bruxism, Stereotypical body rocking, Agenesis of corpus callosum, Microc... ORPHA:261323
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, 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
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, ... OMIM:253800
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Ventriculomegaly, Subependymal cysts, Increased caudate lactate level, ... ORPHA:3008
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly, Bruxism, Recurrent hand flapping, Microcephaly, Agitation OMIM:617903
Vici Syndrome
Cerebellar hypoplasia, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus call... ORPHA:1493
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Aggressive behavior... ORPHA:363528
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Microcephaly, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, ... ORPHA:228402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Communicating hydrocephalus... OMIM:615287
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... 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
Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ... OMIM:617360
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Pseudobulbar paralysis, Agenesis of corpus callosum OMIM:618651
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... OMIM:616449
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Global brain atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus cal... OMIM:301056
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
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
Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Abnormal cerebral ... ORPHA:96170
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Reduced cerebral white matter volume, Lateral ventricle dilatation, Pari... OMIM:620075
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity, Motor ... OMIM:610883
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Compulsive ... ORPHA:261236
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosu... ORPHA:96147
Pitt-Hopkins-Like Syndrome 1
Focal cortical dysplasia, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:610042
Kleefstra Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Self-mutilation, Agenesis o... ORPHA:261494
Agnathia-Otocephaly Complex
Agenesis of corpus callosum OMIM:202650
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:612863
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... 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, Hypoplasia of the brainstem, Agenesis of corpus callosum, ... OMIM:248700
Smith-Magenis Syndrome
Ventriculomegaly, Head-banging, Onychotillomania, Self-mutilation, Hyperactivity, Self hugging, M... OMIM:182290
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Periventricular leukomalacia, Microcephaly, Colpocepha... OMIM:619833
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Periventricular leukomalacia, Motor stereotypy OMIM:617808
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Hypoplasia of the pons, Frequent temper tantrums, Agenesis of corpus cal... OMIM:619512
Trisomy 1Q
Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:261344
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Compulsive behaviors, Aggressive behavior, Hyperactivity, Agenesis of corpus callosum OMIM:309520
Snijders Blok-Campeau Syndrome
Ventriculomegaly, Attention deficit hyperactivity disorder, Thin corpus callosum, Motor stereotypy OMIM:618205
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morp... ORPHA:79264
Joubert Syndrome With Renal Defect
Polymicrogyria, Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Fumarase Deficiency
Ventriculomegaly, Open operculum, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainstem, ... OMIM:606812
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Deep white m... ORPHA:565624
Desmosterolosis
Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent septum pellucidum, Agenesis ... 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
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Immunodeficiency 49
Reduced cerebral white matter volume, Agenesis of corpus callosum OMIM:617237
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp... ORPHA:157
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus... ORPHA:464738
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Intracerebral periventricular cal... ORPHA:228308
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Thi... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypoplasia ... 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
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Galloway-Mowat Syndrome 6
Microcephaly, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Attention deficit hyperactivity disorder, T... OMIM:617854
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum