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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
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, 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, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... ORPHA:171703
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... OMIM:618286
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cervical Cancer
Cervix cancer, Neoplasm OMIM:603956
Lynch Syndrome 8
Endometrial carcinoma OMIM:613244
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... OMIM:615771
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Aggressive behavior, Simplified gyral pattern, Cerebral a... OMIM:618492
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder, Abnorm... OMIM:618709
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Lissencephaly 3
Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence... OMIM:611603
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... ORPHA:250972
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... OMIM:617542
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ... ORPHA:85179
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ... ORPHA:572013
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior, Microcephaly OMIM:615493
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum OMIM:605899
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Dysphagia, Microcephaly OMIM:619025
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria OMIM:300067
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... OMIM:620200
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly OMIM:616570
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, Abnormal... OMIM:617862
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microceph... ORPHA:171680
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t... OMIM:619302
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly OMIM:616540
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ... OMIM:615282
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Breast carcinoma, Macroor... ORPHA:90790
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... OMIM:304100
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Aggressive behavior OMIM:619548
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c... ORPHA:314478
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... OMIM:618959
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:303350
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Simplified gyral pattern, Perive... OMIM:619470
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... ORPHA:201
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:619301
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:618325
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum OMIM:619466
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesi... ORPHA:1528
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Autosomal Recessive Primary Microcephaly
Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul... ORPHA:2512
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ... OMIM:218670
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Nephroblast... OMIM:194072
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Stereotypical body rocking, Agitat... OMIM:309548
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:166024
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:615286
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si... ORPHA:300570
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypo... ORPHA:255138
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... OMIM:615095
Foxg1 Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing, Hypoplasia of the corpus callosum, B... ORPHA:561854
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum, Dysphagia OMIM:619083
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pon... OMIM:613153
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Microcephaly, Inappropriate laughter, Bruxism, Abnormal repetitive mannerism... OMIM:619150
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
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
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Self-injurious behavior, Cereb... OMIM:617695
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly OMIM:620033
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Melanoma, Breast carcinoma ORPHA:457212
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:618766
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Microhydranencephaly
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... OMIM:605013
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... OMIM:619517
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n... ORPHA:2126
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Germ cell... ORPHA:90797
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of... OMIM:617820
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Secondary microcephaly, Self-mutilation, Microcephaly OMIM:614063
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene... OMIM:618736
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,... OMIM:600118
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... ORPHA:480536
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Dysphagia, A... OMIM:604360
Lissencephaly 6 With Microcephaly
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... OMIM:616212
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Spinal cord tumor, Ov... ORPHA:370348
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of... OMIM:618603
X-Linked Intellectual Disability, Cantagrel Type
Ventriculomegaly, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the co... ORPHA:85277
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ... ORPHA:79243
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pach... ORPHA:168486
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Secondary microcephaly OMIM:617830
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Thin corpus callosum, Cerebral atrophy OMIM:619690
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia, Lateral ventricle dilatation ORPHA:101071
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the brainstem, Cerebellar hypoplasi... OMIM:618266
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, D... ORPHA:500144
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... ORPHA:275864
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Holoprosencephaly 11
Agenesis of corpus callosum, Microcephaly OMIM:614226
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria OMIM:616342
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Choroidal melanoma, Decrea... ORPHA:273
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Hypoplasia of the uterus OMIM:619151
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal... ORPHA:228384
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Dysphagia, Hypoplasia of the... ORPHA:89844
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dysphagia,... OMIM:617669
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at... OMIM:619244
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia... OMIM:225790
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Micropenis, Hypoplastic labia majora, A... ORPHA:83628
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Chromosome 3Q13.31 Deletion Syndrome
Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Ventriculomegaly OMIM:615433
Baraitser-Winter Syndrome 2
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:614583
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:401815
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum OMIM:300406
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... ORPHA:77299
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal repetitive ... ORPHA:238750
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:164180
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Ventriculomegaly OMIM:312170
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Subependymal cysts, Partial agenesis of the corpus callosum, Microcephaly OMIM:245349
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... OMIM:607196
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co... OMIM:620316
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Glabellar hemangioma, Clitoral hypopl... OMIM:164745
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... OMIM:616819
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... ORPHA:86822
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... OMIM:221770
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Microcephaly OMIM:609425
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
6Q25 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:251056
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Microcephaly OMIM:615541
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Linear Skin Defects With Multiple Congenital Anomalies 2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:300887
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Hypoplasia of t... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly... OMIM:615249
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:218350
Lissencephaly, X-Linked, 2
Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Abnormal cerebral white matter morphology, Secondary microcephaly, Hypoplasia of t... OMIM:613192
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Precocious pub... OMIM:175200
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Agenesis of corpus callosum, Microcephaly OMIM:619989
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p... OMIM:607596
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Age... OMIM:620352
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:488635
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Christianson Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Inappropriate laughter, Dysphagia, Aplas... ORPHA:85278
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly ORPHA:466688
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Ring Chromosome 12 Syndrome
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Breast hypoplasia ORPHA:1439
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Self-injurious behavior, Progressive microcephaly, Compulsive behaviors, Abnorm... OMIM:618917
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V... OMIM:619074
Hogue-Janssen Syndrome 2
Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent... OMIM:616362
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Secondary microcephaly, Cerebral atrophy OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Choroid plexus cyst, Bruxism, Agenesis of corpus callosum, Stereotypical hand wringing OMIM:612337
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Microcephaly ORPHA:261519
Lopes-Maciel-Rodan Syndrome
Caudate atrophy, Cerebral atrophy, Dysphagia, Agitation, Bruxism, Abnormal repetitive mannerisms OMIM:617435
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... ORPHA:1018
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity disorder, Co... OMIM:619320
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:452
Severe Intellectual Disability And Progressive Spastic Paraplegia
Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology... ORPHA:280763
Temtamy Syndrome
Self-mutilation, Agenesis of corpus callosum, Thick corpus callosum, Ventriculomegaly OMIM:218340
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... ORPHA:208447
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Mild fetal ventriculomegaly, Agenesis of corpus callosum, Cereb... OMIM:619435
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Abnormal repetitive manneri... OMIM:615802
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Attention deficit hyperactivity disorder, Abnormal periventricular white matter mor... OMIM:619725
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent... OMIM:617751
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Microcephaly OMIM:618906
Chiari Malformation Type Ii
Hydrocephalus, Agenesis of corpus callosum, Dysphagia OMIM:207950
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Microcephaly OMIM:618346
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly OMIM:618142
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene... OMIM:214150
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly ORPHA:261144
Chromosome 5P13 Duplication Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Compulsive ... OMIM:613174
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Aggressive behavior,... ORPHA:488627
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Irregular menstruation, Exostoses OMIM:616482
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep... OMIM:618890
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:607131
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bruxism, Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of ... OMIM:620073
Subependymal Nodular Heterotopia
Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria ORPHA:101030
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Ventricul... ORPHA:99742
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Agenesis of corpus callosum, Ventriculomegaly OMIM:218000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Abnormal cerebral white matter morphology, Hypo... ORPHA:391307
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of t... OMIM:617807
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Developmental And Epileptic Encephalopathy 64
Microcephaly, Self-injurious behavior, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, ... OMIM:618004
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Hydrocephalus, Inappropriate laughter, Cerebellar hypoplasia, Hyperintens... OMIM:618476
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Ring Chromosome 22 Syndrome
Inappropriate behavior, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly ORPHA:1446
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Attention deficit hyperactivity di... OMIM:620141
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Microcephaly, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxi... OMIM:618342
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Frontonasal Dysplasia 1
Pericallosal lipoma, Agenesis of corpus callosum OMIM:136760
Walker-Warburg Syndrome
Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria,... ORPHA:899
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Aggressive behavior, Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus ... ORPHA:481152
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Visceral angiomatosis, Lymphoma, Hamartomatous polyposis, Neoplas... ORPHA:109
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivit... OMIM:620292
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:616975
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:613735
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... ORPHA:2970
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Curry-Jones Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:1553
Houge-Janssens Syndrome 3
Microcephaly, Self-injurious behavior, Hypoplasia of the brainstem, Hypoplasia of the corpus call... OMIM:618354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Agyria, Ventriculomegaly, Optic nerve hypoplasia, Partial agenesis of ... OMIM:614643
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Microcephaly, Repetitive compulsive behavior, Compulsive behaviors, Attention defi... ORPHA:352490
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of... OMIM:619720
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,... OMIM:619775
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms, Dysphagia, Hypoplasia of the corpus callosum, Microcephaly DECIPHER:45
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Attention deficit hyperactivity disorder, Agenesis o... ORPHA:459061
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:615637
Baraitser-Winter Syndrome 1
Microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:243310
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... ORPHA:2148
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Gliosis, Hypoplasia of the corpus callosum, Microcephaly OMIM:616239
Encephalocraniocutaneous Lipomatosis
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c... OMIM:613001
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Attention deficit hy... OMIM:619312
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of th... ORPHA:3157
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, V... OMIM:616034
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
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... OMIM:616051
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2189
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Nizon-Isidor Syndrome
Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Hypoplasia of the corpus c... OMIM:618872
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:238769
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ... OMIM:609053
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha... ORPHA:284417
Dentici-Novelli Neurodevelopmental Syndrome
Thin corpus callosum, Abnormal repetitive mannerisms, Simplified gyral pattern, Microcephaly OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 65
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Aggressive behavior OMIM:618109
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corpus callos... ORPHA:500159
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal repetiti... ORPHA:468631
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... OMIM:617296
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I... OMIM:618929
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Secondary microcephaly, Hypopla... OMIM:620242
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Microcephaly, Inappropriate laughter, Abnormal repetitive mannerisms, Cerebral cor... OMIM:614104
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, ... ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia o... OMIM:613150
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Ventriculomegaly, Agenesis of cerebellar vermis, Absent septum pellu... OMIM:615287
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Global brain atroph... OMIM:617802
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Abnormal repetitive mannerisms, Hypoplasia of... ORPHA:411986
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
Impulsivity, Microcephaly, Aggressive behavior, Tongue thrusting, Thin corpus callosum, Attention... OMIM:619580
Braddock-Carey Syndrome 1
Agenesis of corpus callosum, Microcephaly OMIM:619980
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Microcephaly, Tongue thrusting, Self-injurious behavior, Stereotypical body rockin... ORPHA:261323
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Anorexia, Periventricular cysts, Subependymal cysts, Increased cau... ORPHA:3008
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Hypoplasia of the corpus callosum,... OMIM:619121
Vici Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr... ORPHA:1493
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Microcephaly, Agitation, Bruxism, Recurrent hand flapping, Ventriculomegaly OMIM:617903
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the pyramidal tract, Pachygyria, Hydrocephalus, Hypoplasia of the brainstem, Lissen... OMIM:253800
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Hypoplasia of the corpus callosum,... ORPHA:363528
2Q23.1 Microdeletion Syndrome
Hyperactivity, Microcephaly, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms,... ORPHA:228402
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Decreased respon... ORPHA:3464
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly ORPHA:139471
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leu... OMIM:617360
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene... OMIM:616449
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Pseudobulbar paralysis, Ventriculomegaly OMIM:618651
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Agenesis of corpus callosum, Microcephaly OMIM:300004
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
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
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior... OMIM:620075
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly OMIM:618731
16P13.11 Microdeletion Syndrome
Microcephaly, Self-injurious behavior, Compulsive behaviors, Agenesis of corpus callosum, Ventric... ORPHA:261236
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Emanuel Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter m... ORPHA:96170
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Microcephaly, Hypoplasia of the corpus callosum, Abnorm... OMIM:610883
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the ... OMIM:301056
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Cortical dysplasia, Attention deficit hyperactivity disorder,... OMIM:610042
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... ORPHA:96147
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Desmosterolosis
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma... ORPHA:35107
Marden-Walker Syndrome
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... OMIM:248700
Kleefstra Syndrome
Microcephaly, Aggressive behavior, Self-mutilation, Agenesis of corpus callosum, Self-injurious b... ORPHA:261494
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Microcephaly, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Perivent... OMIM:619833
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261344
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:617260
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Periventricular leukomalacia, Tics, Attention deficit hyperactivi... OMIM:617808
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Ventriculomegaly, Choroid plexus cyst ORPHA:1827
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Agenesis of corpus callosum, Compulsive behaviors, Aggressive behavior OMIM:309520
Agnathia-Otocephaly Complex
Agenesis of corpus callosum OMIM:202650
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum ORPHA:220497
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... ORPHA:565624
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Microcephaly, Aqueductal stenosis, Abnormal repetitive mannerisms, Partial agenesi... OMIM:619512
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Abnormal cerebral white matter morphology, Dysphagia, Focal T2 hyperintense bas... ORPHA:79264
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:612940
Immunodeficiency 49
Agenesis of corpus callosum, Reduced cerebral white matter volume OMIM:617237
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... ORPHA:228308
Fumarase Deficiency
Microcephaly, Choroid plexus cyst, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, ... OMIM:606812
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Agyria, Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Hydroc... OMIM:236670
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Aggressive behavior, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of ... ORPHA:464738
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Thin corpus callosum, V... OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 56
Impulsivity, Lateral ventricle dilatation, Secondary microcephaly, Attention deficit hyperactivit... OMIM:617854
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Microcephaly OMIM:618347
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Joubert Syndrome 3
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral v... OMIM:608629
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Birk-Landau-Perez Syndrome
Pachygyria, Agenesis of corpus callosum, Microcephaly OMIM:617595
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia... ORPHA:457284
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... OMIM:222448
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Self-biting, Abnormal repetitive mannerisms ORPHA:3306
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Toriello-Carey Syndrome
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypopl... ORPHA:3338
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Premature ovarian insufficiency, Hypospadias, Endometriosis ORPHA:363444
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum ORPHA:220493
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... OMIM:618606
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation, Microcephaly OMIM:609637
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... OMIM:618291
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Holoprosencephaly 14
Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Partial agenesis o... OMIM:619895
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebral hyp... OMIM:257300
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Anencephaly, Agenesis of corpus callosum, Dandy... OMIM:619148
Curry-Jones Syndrome
Megalencephaly, Hemimegalencephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:601707
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Secondary microcephaly, Cerebellar hypoplasia, Comp... OMIM:300986
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Choroid plexus cyst, Hypoplasia of the... OMIM:603671
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Microcephaly OMIM:619092
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:3301
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums, Microcephaly ORPHA:530983
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... ORPHA:93111
Currarino Syndrome
Bicornuate uterus, Presacral teratoma, Septate vagina, Rectovaginal fistula OMIM:176450
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... ORPHA:544488
Duplication Of The Pituitary Gland
Hypoplasia of olfactory tract, Agenesis of corpus callosum, Self-mutilation, Microcephaly ORPHA:314621
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpus ... ORPHA:96092
Brain-Lung-Thyroid Syndrome
Hyperactivity, Microcephaly, Abnormal eating behavior, Abnormal drinking behavior, Compulsive beh... ORPHA:209905
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasi... OMIM:614219
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy, Periventricular wh... ORPHA:168491
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... OMIM:613154
Sotos Syndrome
Aggressive behavior, Partial agenesis of the corpus callosum, Attention deficit hyperactivity dis... OMIM:117550
Smith-Magenis Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Self-injurious behavior, Attention defic... ORPHA:819
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp... OMIM:243605
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ... OMIM:608836
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Abnormality of the uter... ORPHA:3138
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:614105
Alexander Disease
Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Self-injurious behavi... ORPHA:58
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, Leukoencephalopathy,... ORPHA:572798
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Secondary microcephaly, Bruxism OMIM:616351
Desmosterolosis
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c... OMIM:602398
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Ventriculomegaly, Hypoplasia of the corpus callosum, Lateral ventric... ORPHA:420179
Chromosome 14Q11-Q22 Deletion Syndrome
Lateral ventricular asymmetry, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... OMIM:613457
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Cach Syndrome
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Dysphagia, Dysgyria ORPHA:135
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... ORPHA:506
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Abnormal repetitive mannerism... OMIM:300486
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Abn... ORPHA:457279
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... ORPHA:1692
Bohring-Opitz Syndrome
Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ... OMIM:605039
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Microcephaly ORPHA:457240
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... OMIM:620305
Slc35A2-Cdg
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb... ORPHA:356961
Orofaciodigital Syndrome V
Overfriendliness, Agenesis of corpus callosum, Microcephaly OMIM:174300
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dysphagia, Microcephaly OMIM:300000
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly ORPHA:87
Rett Syndrome, Congenital Variant
Tongue thrusting, Simplified gyral pattern, Hypoplasia of the corpus callosum, Bruxism, Pachygyri... OMIM:613454
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... OMIM:269150
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly ORPHA:250989
Monosomy 13Q34
Agenesis of corpus callosum, Microcephaly ORPHA:96168
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypoplasia of the uteru... OMIM:618419
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Secondary m... OMIM:300912
Endocrine-Cerebroosteodysplasia
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Aplasia/Hypoplasia of the cerebell... OMIM:612651
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:217980
Heterotaxy, Visceral, 2, Autosomal
Agenesis of corpus callosum, Microcephaly OMIM:605376
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms,... OMIM:619293
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261552
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Orofaciodigital Syndrome Type 5
Agenesis of corpus callosum, Microcephaly ORPHA:2919
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple OMIM:200980
Intellectual Developmental Disorder, Autosomal Dominant 38
Microcephaly, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxi... OMIM:616393
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms, Microcephaly ORPHA:927
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi... OMIM:617397
Microform Holoprosencephaly
Agenesis of corpus callosum, Microcephaly ORPHA:280200
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Microcephaly, Self-injurious behavior, Compulsive behaviors, Dysphagia, Atte... OMIM:617061
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... ORPHA:2396
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms OMIM:618067
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:10
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Cerebral cortical atrophy, Microcephaly OMIM:619428
Cri-Du-Chat Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Microcephaly, Repetitive compulsive behavior, Dysphagia, Bruxism, Abnormal repetitive mannerisms OMIM:300260
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:847
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Microcephaly, Pica, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Dand... ORPHA:3078
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:85201
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Aicardi Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dilated third ventricle, Partial agenesis of the corp... OMIM:304050
Opitz Gbbb Syndrome
Ventriculomegaly, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the co... ORPHA:2745
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Microcephaly, Aggressive behavior, Cerebral atrophy, Self-... OMIM:616364
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Primary microcephaly, A... ORPHA:457351
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum OMIM:618733
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M... ORPHA:1727
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... ORPHA:2822
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Septate vagina, Uterus didelphys, Micropenis OMIM:617925
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal... OMIM:301043
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic... OMIM:614866
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the corpus ca... ORPHA:508498
Phelan-Mcdermid Syndrome
Microcephaly, Aggressive behavior, Tongue thrusting, Bruxism, Abnormal periventricular white matt... OMIM:606232
Apert Syndrome
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu... OMIM:101200
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Microcephaly, Lateral ventricle dilatation, Secondary microcephaly, Agitation, ... OMIM:619229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Dysphagia, Primary microcephaly OMIM:619847
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Fanconi Anemia, Complementation Group D2
Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Hypoplasia of the corpus c... OMIM:227646
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention def... OMIM:619575
Rett Syndrome
Progressive microcephaly, Agitation, Primary microcephaly, Abnormal repetitive mannerisms, Stereo... ORPHA:778
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Melas
Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c... ORPHA:550
Coffin-Siris Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Simplified gyral pattern, Oral aversion, Agenes... ORPHA:1465
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:93317
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum, Dysphagia, Ventriculomegaly ORPHA:261250
Toriello-Lacassie-Droste Syndrome
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:3339
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Microcephaly, Attention deficit hyperactivity disorder, Hypoplasia of the co... OMIM:300352
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum, Abnormal basal ganglia ... ORPHA:397715
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Agenesis of corpus callosum, Polymicrogyria OMIM:277170
Marshall-Smith Syndrome
Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce... OMIM:602535
White-Sutton Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Hypoplasia of the pons, Self-injurious behavior... ORPHA:468678
Marden-Walker Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Attention deficit h... ORPHA:2461
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:619418
Fanconi Anemia
Hypospadias, Myelodysplasia, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Decrease... ORPHA:84
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy,... OMIM:151050
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Bainbridge-Ropers Syndrome
Microcephaly, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus cal... OMIM:615485
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Agenesis of corpus callosum, Attention deficit hyperactivity disorder OMIM:618748
Microsporidiosis
Abnormality of the parathyroid gland, Prostatitis, Abnormal endometrium morphology, Abnormal fall... ORPHA:2552
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Microce... OMIM:618500
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Abnormal repetitive mannerisms, Microcephaly OMIM:616579
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Bohring-Opitz Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus ca... ORPHA:97297
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l... ORPHA:33364
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Agenesis of corpus callosum OMIM:242840
Pitt-Hopkins Syndrome
Microcephaly, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the corpus callosum,... OMIM:610954
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pancreatic Agenesis-Holoprosencephaly Syndrome
Agenesis of corpus callosum ORPHA:556955
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... OMIM:181450
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Microphthalmia, Syndromic 3
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:206900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Secondary microcephaly, Compulsive behaviors, Primary microcephaly, Attentio... ORPHA:476126
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... ORPHA:435638
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... OMIM:210710
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Microcephaly OMIM:617478
Craniofrontonasal Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:304110
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach... ORPHA:50
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Attention deficit hyperactivity disorder OMIM:305450
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... OMIM:229850
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral atrophy, Ag... OMIM:311200
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Abnor... ORPHA:496641
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Cerebral calcification, Abnormal lateral ventri... ORPHA:1855
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Dysphagia, Secondary microcephaly, Hypoplasia of the corpus callosum... ORPHA:447997
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Bruxism, Agenesis of cor... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Bruxism, Agenesis of cor... ORPHA:352665
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Microcephaly OMIM:619695
Kleefstra Syndrome 1
Aggressive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Microcephaly OMIM:610253
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Agenesis of corpus callosum, Bruxism ORPHA:48652
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Microcephaly, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Self-mu... OMIM:212066
14Q22Q23 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:264200
Jacobsen Syndrome
Cerebral atrophy, Attention deficit hyperactivity disorder, Pachygyria, Agenesis of corpus callos... ORPHA:2308
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Abnormal cerebral white matter morphology, Hypoplasia of the corpus ca... ORPHA:506358
Meckel Syndrome, Type 1
Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Hydrocephalus, Anencephaly, Cerebral hy... OMIM:249000
Koolen-De Vries Syndrome Due To A Point Mutation
Microcephaly, Hydrocephalus, Inappropriate laughter, Hypoplasia of the corpus callosum, Attention... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Inappropriate laughter, Hypoplasia of the corpus callosum, Attention... ORPHA:363958
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... ORPHA:434179
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... ORPHA:42775
Prader-Willi Syndrome Due To Translocation
Microcephaly, Head-banging, Lateral ventricle dilatation, Compulsive behaviors, Attention deficit... ORPHA:177907
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M... ORPHA:1001
Holoprosencephaly 7
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the brainstem... OMIM:610828
Chromosome 1P36 Deletion Syndrome, Distal
Microcephaly, Pachygyria, Aggressive behavior, Hydrocephalus, Self-mutilation, Polyphagia, Leukoe... OMIM:607872
Norrie Disease
Cryptorchidism, Erectile dysfunction, Uterine rupture, Neoplasm of the eye, Vascular neoplasm ORPHA:649
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Facial capillary hemangioma, Precociou... OMIM:270400
Trisomy 8P
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly ORPHA:264450
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Coffin-Siris Syndrome 4
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:614609
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Lateral ventricle dilatation, Microcephaly ORPHA:263487
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, A... OMIM:619841
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Chromosome 13Q14 Deletion Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum OMIM:613884
Developmental And Epileptic Encephalopathy 100
Polymicrogyria, Cerebral atrophy, Dysphagia, Pachygyria, Abnormal repetitive mannerisms, Thin cor... OMIM:619777
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619194
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:261197
1P36 Deletion Syndrome
Microcephaly, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Dysphagia, Age... ORPHA:1606
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Wolf-Hirschhorn Syndrome
Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Hydrocephalus, Periventri... OMIM:194190
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Hydrocephalus, Polyphagia, Simplified gyral pa... ORPHA:96121
Microgastria-Limb Reduction Defect Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration ORPHA:2538
Holoprosencephaly 9
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis... OMIM:610829
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2658
Okamoto Syndrome
Bifid uterus ORPHA:2729
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Choreoacanthocytosis
Caudate atrophy, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, ... ORPHA:2388
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Agenesis of corpus callosum ORPHA:306542
Acrocallosal Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:200990
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Alobar Holoprosencephaly
Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia, Agenesis of cor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia, Agenesis of cor... ORPHA:93926
Lobar Holoprosencephaly
Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia, Agenesis of cor... ORPHA:93924
Semilobar Holoprosencephaly
Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia, Agenesis of cor... ORPHA:220386
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Microcephaly ORPHA:2479
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Prim... ORPHA:464306
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:300373
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Microcephaly, Repetitive compulsive behavior, Stereotypical body rocking, Cerebellar hypoplasia, ... ORPHA:513456
Hartsfield Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:615465
Monosomy 9P
Agenesis of corpus callosum, Microcephaly ORPHA:261112
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Dysphagia, Abnormal repetitive mannerisms, Abno... ORPHA:319182
Kinsship Syndrome
Microcephaly, Bruxism, Primary microcephaly, Dandy-Walker malformation, Abnormal repetitive manne... OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Microcephaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Abnorm... ORPHA:464311
Holoprosencephaly 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:236100
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Self-biting, Hemiballismus, Abnormal repetitive mannerisms, Self-... ORPHA:522077
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms, Progressive microcephaly OMIM:300672
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia ORPHA:93271
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... OMIM:615948
Orofaciodigital Syndrome Type 1
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:2750
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly ORPHA:280
Rubinstein-Taybi Syndrome 1
Hyperactivity, Impulsivity, Microcephaly, Hyperintensity of cerebral white matter on MRI, Agenesi... OMIM:180849
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia ORPHA:2363
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Ventriculomegaly, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly ORPHA:508533
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:226307
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Colpocephaly, Dysphagia, Ventriculomegaly OMIM:618460
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:615656
Ring Chromosome 13 Syndrome
Anencephaly, Agenesis of corpus callosum, Microcephaly ORPHA:96176
Degcags Syndrome
Oral-pharyngeal dysphagia, Microcephaly, Choking episodes, Agenesis of corpus callosum, Ventricul... OMIM:619488
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly ORPHA:2556
Mowat-Wilson Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... OMIM:235730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio... OMIM:619869
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619480
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Dysphagia, Hypoplasia of the corpus callosum, Microcephaly OMIM:618367
6Q Terminal Deletion Syndrome
Abnormal cerebral white matter morphology, Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the... ORPHA:75857
Simpson-Golabi-Behmel Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:373
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261537
Yunis-Varon Syndrome
Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pach... ORPHA:3472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... ORPHA:2273
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Repetitive c... OMIM:619475
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Lateral ventricle dilatation, ... OMIM:615873
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology ORPHA:217260
Gabriele-De Vries Syndrome
Cortical dysplasia, Lateral ventricle dilatation, Attention deficit hyperactivity disorder OMIM:617557
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms, Cerebral atrophy, Microcephaly OMIM:301040
Van Esch-O'Driscoll Syndrome
Impulsivity, Microcephaly, Cerebral atrophy, Attention deficit hyperactivity disorder, Abnormal r... OMIM:301030
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Anterior hypopituitarism ORPHA:709
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:619479
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal repeti... OMIM:309590
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly OMIM:618653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morphology, Lateral ventri... OMIM:300868
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Dysphagia OMIM:264090
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cavernous hemangioma of the face,... OMIM:268300
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:477993
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus, Facial capillary hemangioma OMIM:274000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:95494
Coffin-Siris Syndrome 1
Microcephaly, Aggressive behavior, Partial agenesis of the corpus callosum, Compulsive behaviors,... OMIM:135900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... OMIM:220111
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Baller-Gerold Syndrome
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, D... ORPHA:500150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Uni... OMIM:619503
Mowat-Wilson Syndrome
Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha... ORPHA:2152
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly OMIM:620083
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Holoprosencephaly 2
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:157170
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Aggressive behavior, Microceph... OMIM:620330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Pallister-Hall Syndrome
Small scrotum, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the uterus, Hypospadias... ORPHA:672
Focal Dermal Hypoplasia
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:305600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ute... ORPHA:567
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, A... ORPHA:199
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Abnormal corpu... ORPHA:3455
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tan... ORPHA:580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Uterine prolapse, Incr... ORPHA:438213
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Dysphagia, Microcephaly OMIM:617330
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Ogden Syndrome
Microcephaly, Cerebral atrophy, Dysphagia, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:300855
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o... OMIM:300896
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:312870
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Periventricular cysts, Ventriculomegaly, Aggressive behavior OMIM:309000
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hippocampal atrophy, Cerebellar hypoplasia, Attention deficit... OMIM:614756
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:534
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly OMIM:301044
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Arboleda-Tham Syndrome
Microcephaly, Abnormal repetitive mannerisms, Dysphagia, Primary microcephaly OMIM:616268
Primrose Syndrome
Restlessness, Cerebral calcification, Aggressive behavior, Self-injurious behavior, Tics, Hypopla... OMIM:259050
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co... OMIM:216340
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms, Hippocampal atrophy, Noncommunicating hydrocephalus, Microcephaly OMIM:619325
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms, Microcephaly OMIM:616682
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms, Microcephaly OMIM:612474
Craniofacial Microsomia 1
Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Nmda Receptor Encephalitis
Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Dysphagia, Microcephaly OMIM:619522
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas... OMIM:601803

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.

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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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