Gene Summary

Name:
AT rich interactive domain 1B (SWI-like)
Synonyms:
9330189K18Rik,  B230217J03Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Arid1bem1(IMPC)Tcp HET Early adult 1.15×10-05
abnormal spleen morphology Arid1bem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Arid1bem1(IMPC)Tcp HOM   Early adult 0.00
decreased exploration in new environment Arid1bem1(IMPC)Tcp HET Early adult 1.50×10-05
impaired cued conditioning behavior Arid1bem1(IMPC)Tcp HET Early adult 2.89×10-05
preweaning lethality, incomplete penetrance Arid1btm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal freezing behavior Arid1bem1(IMPC)Tcp HET Early adult 1.01×10-05
increased circulating creatinine level Arid1bem1(IMPC)Tcp HET Early adult 9.38×10-05
edema Arid1bem1(IMPC)Tcp HOM E15.5 0.00
decreased prepulse inhibition Arid1bem1(IMPC)Tcp HET Early adult 6.29×10-12
male infertility Arid1btm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased freezing behavior Arid1bem1(IMPC)Tcp HET Early adult 4.01×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

22 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Forepaw

12 Images

Anti-nuclear antibody assay

Images

6 Images

Gross Pathology and Tissue Collection

Images

9 Images

Gross Morphology Embryo E14.5-E15.5

Images

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Human diseases caused by Arid1b 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.

The table below shows human diseases associated to Arid1b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Arid1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Depre... ORPHA:280397
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Glucose intolerance, Diabetes mellitus, Depression, Impaired glucose tolerance OMIM:614296
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Ataxia, Cerebral palsy, Apathy, Irritability, Hydrocephalus, Hemiplegia/h... ORPHA:99966
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Pineocytoma
Cognitive impairment, Increased CSF protein, Memory impairment, Hydrocephalus, Episodic ataxia ORPHA:251912
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Papilloma Of Choroid Plexus
Cognitive impairment, Choroid plexus papilloma, Hydrocephalus, Hemiplegia/hemiparesis, Hypertonia ORPHA:2807
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Disinhibition, Motor stereotypy, Fasciculations, Inappropriate behavior, Menta... ORPHA:275864
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Dystonia, Memory impairment, Parkinsonism, Anxiety, Inappropriate behavior,... ORPHA:401901
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Basal Ganglia Calcification, Idiopathic, 6
Cognitive impairment, Parkinsonism, Memory impairment, Choreoathetosis, Dementia, Involuntary mov... OMIM:616413
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Creutzfeldt-Jakob Disease
Increased CSF protein, Memory impairment, Anxiety, Dementia, Extrapyramidal muscular rigidity, Ap... OMIM:123400
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Foxg1 Syndrome
Impaired social interactions, Abnormal corpus callosum morphology, Cognitive impairment, Dystonia... ORPHA:561854
Angioedema, Hereditary, 8
Laryngeal edema, Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619367
Alg13-Cdg
Cognitive impairment, Decreased body weight, Abnormal lateral ventricle morphology, Poor eye cont... ORPHA:324422
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Bradykinesia, Apathy, Irritability, Rigidity, Chorea,... OMIM:606438
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Motor stereotypy, Anxiety, Deme... ORPHA:168782
Spinocerebellar Ataxia 12
Action tremor, Dysmetria, Parkinsonism, Axial dystonia, Anxiety, Dementia, Head tremor, Progressi... OMIM:604326
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Nasu-Hakola Disease
Cerebral calcification, Memory impairment, Disinhibition, Oculomotor apraxia, Ventriculomegaly, I... ORPHA:2770
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Parkinsonism, Anxiety, Dementia, Athetosis, Apathy, Chorea, Motor tics, Bas... OMIM:615483
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Huntington Disease-Like 1
Incoordination, Dysmetria, Basal ganglia gliosis, Anxiety, Dementia, Aggressive behavior, Rigidit... OMIM:603218
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Anxiety, Inappropriate... ORPHA:309246
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Anxiety, Poor eye contact, Failure to thrive, Thin corpus callosum, Myoclonus, Tremor OMIM:619651
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Meningioma
Focal T2 hypointense thalamic lesion, Lower limb muscle weakness, Decreased serum estradiol, Incr... ORPHA:2495
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Memory impairment, Inertia, Anxiety, Dementia, Motor deterioration, Inappropriate b... ORPHA:412066
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Stereotypical hand wringing, Microcephaly, Failure to thrive, Irritability, Spa... ORPHA:500545
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Alexander Disease
Spasticity, Ataxia, Increased CSF protein, Hydrocephalus OMIM:203450
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Progressive microcephaly, Stereotypical hand wringing, Self-injurio... ORPHA:397933
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Motor stereotypy, Impulsivity, Microcephaly, Spasticity, Chorea, Cort... ORPHA:88616
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Aggressive behavior, Microcephaly, Simplified gyral pattern, Periventricula... OMIM:619470
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Cognitive impairment, Dystonia, Choreoathetosis, Hypoglycorrhachia, Ataxia, Irr... OMIM:612126
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia, Microcephaly, Cortical dysplasia, ... OMIM:618709
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritabili... OMIM:618093
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Dopa-Responsive Dystonia
Dystonia, Abnormal social behavior, Panic attack, Depression, Abnormality of extrapyramidal motor... ORPHA:255
Chilblain Lupus 2
Edema OMIM:614415
Huntington Disease
Dystonia, Degeneration of the striatum, Aggressive behavior, Apathy, Clonus, Decreased body mass ... ORPHA:399
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, S... ORPHA:231720
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Cerebral cortical atr... ORPHA:2703
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Paresthesia, Hydrocephalus... ORPHA:73256
Atypical Rett Syndrome
Impaired social interactions, Dystonia, Pill-rolling tremor, Apraxia, Impaired pain sensation, In... ORPHA:3095
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Choreoathetosis, Self-injurious behavio... OMIM:304340
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Stereotypical hand wringing, Self-injurious behavior, Chorea, Hypoplasia of the corpus ... OMIM:618760
Myoclonus-Dystonia Syndrome
Dystonia, Anxiety, Panic attack, Limb myoclonus, Personality disorder, Spinal myoclonus, Torticol... ORPHA:36899
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cognitive impairment, Parkinsonism, Myoclonic spasms, Progressive language dete... ORPHA:79264
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Abnormal pyramidal sign, Poor eye contact, Microcephaly, Hydrocephalus, Abnorma... OMIM:300884
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Parkinsonism, Memory impairment, Progres... OMIM:607485
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Dystonia, Memory impairment, Increased CSF protein, Anxiety, Abnormal hippo... ORPHA:163921
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Anxiety, Dementia, Bradykinesia, Rigidity, Depression OMIM:605909
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Recurrent hand flapping, Microcephaly, Stereotypical body... OMIM:309548
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Skin-picking, Atrial septal de... ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Alobar Holoprosencephaly
Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Panhypopituitarism, Anxi... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Panhypopituitarism, Anxi... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Panhypopituitarism, Anxi... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Panhypopituitarism, Anxi... ORPHA:220386
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Progressive Non-Fluent Aphasia
Parkinsonism, Memory impairment, Apraxia, Anxiety, Mental deterioration, Temporal cortical atroph... ORPHA:100070
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Pericardial effusion OMIM:618773
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Neurofibrillary tangles, Parkinsonism, Memory impairment, Disinhibition, Abnor... ORPHA:1020
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Tremor OMIM:611808
Thyrotropin-Releasing Hormone Deficiency
Muscle weakness, Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Christianson Syndrome
Dystonia, Motor stereotypy, Aplasia/Hypoplasia of the corpus callosum, Conspicuously happy dispos... ORPHA:85278
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Hydrocephalus ORPHA:1008
Geniospasm 1
Anxiety OMIM:190100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Aggressive behavior, Primary microcephaly, Overfriendli... OMIM:618010
Papillary Tumor Of The Pineal Region
Cognitive impairment, Increased CSF protein, Memory impairment, Hydrocephalus, Episodic ataxia ORPHA:251915
Gómez-López-Hernández Syndrome
Impaired pain sensation, Cognitive impairment, Ataxia, Hydrocephalus ORPHA:1532
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cognitive impairment, Dystonia, Dysmetria, Apraxia, Anxiety, Sp... OMIM:615157
Lymphatic Malformation 3
Lymphedema OMIM:613480
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Myoclonus OMIM:619191
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Failure to thrive, Poor eye contact OMIM:618276
Fried Syndrome
Cerebral calcification, Spastic diplegia, Aggressive behavior, Hydrocephalus ORPHA:85335
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Bradykinesia, Hemiparesis, Depression, Dil... ORPHA:306669
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Ventriculomegaly, Tremor OMIM:619561
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Fraxe Intellectual Disability
Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Clumsiness, Impulsivity ORPHA:100973
White Sponge Nevus 2
Edema OMIM:615785
Pandas
Emotional lability, Irritability, Separation insecurity, Claustrophobia, Depression, Impulsivity,... ORPHA:66624
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Cognitive impairment, Abnormal caudate nucleus morphology, A... ORPHA:300573
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Dementia, A... OMIM:272750
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Dystonia, Motor stereotypy, Spastic dysarthria, Overweight, Shyne... ORPHA:280763
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Cerebral atrophy, Dystonia, Oculogyric crisis, Motor stereotypy, Self-injurious... ORPHA:178469
Neuroferritinopathy
Cognitive impairment, Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumul... ORPHA:157846
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Dystonia, Spastic tetraplegia, Oculogyric crisis, Motor stereotypy, Self-injuri... ORPHA:208447
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Spastic tetraplegia, Partial agenesis of the corpus callos... OMIM:619302
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Short stature, Hydrocephalus OMIM:303350
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor coordination, Recurrent hand flapping, Gait ataxia, Irritability, Impulsivity OMIM:619717
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Spastic paraparesis, Tremor, Ventriculomegaly, Ataxia,... ORPHA:391417
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Somatic sensory dysfunction, Hand tremor, Frequent falls, Impaired vibratory sensation, Impaired ... ORPHA:99947
Fragile X Tremor/Ataxia Syndrome
Action tremor, Dysmetria, Memory impairment, Resting tremor, Intention tremor, Disinhibition, Anx... OMIM:300623
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Motor stereotypy, Anxiety, Ataxia, Emotional lability, Microcephaly, Failur... ORPHA:927
Central Precocious Puberty
Hypothalamic hamartoma, Proportionate short stature, Obesity, Isosexual precocious puberty, Hydro... ORPHA:759
Chorea, Benign Hereditary
Anxiety OMIM:118700
Krabbe Disease
Hydrocephalus, Increased CSF protein, Motor deterioration, Failure to thrive, Diffuse cerebral at... OMIM:245200
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Cerebral atrophy, Obesity, Aggressive behavior, Self-mutilation, Thin corpus callosum OMIM:616521
Choreoacanthocytosis
Parkinsonism, Dystonia, Caudate atrophy, Disinhibition, Anxiety, Dementia, Aggressive behavior, E... OMIM:200150
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Metachromatic Leukodystrophy, Adult Form
Frequent falls, Dystonia, Memory impairment, Decerebrate rigidity, Intention tremor, Abnormal soc... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Dystonia, Increased CSF protein, Intention tremor, Abnormal social behavior, Emot... ORPHA:309263
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Anxiety, Dilated third ventricle, Brady... OMIM:619725
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220200
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Low frustration tolerance, Motor stereotypy, Anxiety, Demen... ORPHA:168491
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Microcephaly, Dandy-Walker malformation, Spasticity, Hy... OMIM:617281
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Upper limb spasticity, Anxiety, Overweight, Microcephaly, Self-mutilation, Depr... ORPHA:457240
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Stereotypical hand wringing, Obesi... ORPHA:163681
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Muscle weakness, Microcephaly, Hydrocephalus, Periventricular leukomal... OMIM:618302
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Dystonia, Progressive microcephaly, Stereotypical hand wringing, Self-injurious... OMIM:618917
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Cognitive impairment, Dystonia, Abnormal caudate nucleus morphology,... ORPHA:25
Autosomal Recessive Spastic Paraplegia Type 11
Parkinsonism, Memory impairment, Abnormal substantia nigra morphology, Hyperintensity of cerebral... ORPHA:2822
Cach Syndrome
Cerebral atrophy, Cognitive impairment, Dysmetria, T2 hypointense thalamus, Dysgyria, Apathy, Mic... ORPHA:135
Congenital Toxoplasmosis
Cerebral calcification, Cognitive impairment, Failure to thrive in infancy, Ventriculomegaly, Mic... ORPHA:858
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Cognitive impairment, Motor stereotypy, Anxiety, Involuntary movements, Paroxy... ORPHA:98784
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Motor stereotypy, Lissencephaly, Type II lissencephaly, Small basal ganglia, Dilation o... ORPHA:300570
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Lack of peer relationships, No social interaction, Unhap... ORPHA:96369
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Happy demeanor, Opisthotonus, Choreoathetosis, Extra-axial cerebrospinal fluid accumulation, Mood... OMIM:619580
Preeclampsia
Type I diabetes mellitus, Abnormality of the hepatic vasculature, Thrombocytopenia, Elevated circ... ORPHA:275555
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cognitive impairment, Normocytic anemia, Memory impairment, Elevated circulating creatinine conce... ORPHA:247691
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Microcephaly, Tongue thrusting, Diffuse cerebral atrophy, Corpus callosum a... ORPHA:77299
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Hypertonia, Action tremor, Dystonia, Parkinsonism, Anxiety, Ataxia,... OMIM:619738
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Inappropriate laughter, Cerebral cortical atrophy, Spasticity, Hypoplasi... OMIM:618859
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Spastic tetraplegia, Mental deterioration, Ventriculomegaly, Ataxia,... OMIM:618476
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Cognitive impairment, Abnormal caudate nucleus morphology, Cerebral white matter atrophy,... ORPHA:2148
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Hyperglycemia OMIM:618970
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Opisthotonus, Agenesis of corpus callosum, Myelomeningocele, Anxiety... ORPHA:1136
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Hypoplasia of the corpus callosum ORPHA:444002
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Failure to thrive, Hydrocephalus ORPHA:26
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Bicuspid aortic... OMIM:615599
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial edema, Pulmonary edema OMIM:617300
Perry Syndrome
Suicidal ideation, Parkinsonism, Dystonia, Disinhibition, Anxiety, Inappropriate behavior, Bradyk... OMIM:168605
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Abnormal fear/anxiety-related behavior, Aggressive behavior ORPHA:208441
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Frontal encephalocele, Hydrocephalus ORPHA:261102
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Subcortical band heterotopia, Hypopla... OMIM:615191
Temple Syndrome
Small for gestational age, Obesity, Short stature, Precocious puberty, Type II diabetes mellitus,... ORPHA:254516
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, Ventriculomegaly, Recurrent hand flapping OMIM:617268
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Microcephaly, Hydrocephalus, Clumsiness OMIM:300558
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Poor eye contact, Inappropriate laughter ORPHA:505652
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Dilated third ventricle, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Di... ORPHA:363654
Tay-Sachs Disease
Incoordination, Ankle clonus, Dysmetria, Dystonia, Memory impairment, Frequent falls, Decerebrate... ORPHA:845
Achondroplasia
Neonatal short-limb short stature, Rhizomelia, Megalencephaly, Hydrocephalus OMIM:100800
Arachnoid Cyst
Tetraparesis, Encephalocele, Memory impairment, Disinhibition, Enlarged fossa interpeduncularis, ... ORPHA:2356
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response, Hypertonia OMIM:272800
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Happy demeanor, Small for gestational age, Failure to thrive in infancy, Stereoty... OMIM:614104
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308750
1Q21.1 Microduplication Syndrome
Hypertonia, Failure to thrive, Hydrocephalus ORPHA:250994
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Spastic gait, Colpocephaly, Lower limb spasticity, Impaired vibra... ORPHA:401815
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Horseshoe kidney, Agenesis of corpus callosum, Ventriculomegaly, Short stature, Ve... OMIM:218350
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Micropenis, Occipital encephalocele, Anterior hypopituitarism, Abnormal h... OMIM:241800
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Hydronephrosis, Doubl... OMIM:220210
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Megalencephaly, Ventricular septal defect, Hydrocephalus, Polymicrogyria, Abnormal cardiac septum... ORPHA:83473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Ventriculomegaly, Dandy-Walker malformation, Lissencephaly, Pachygyria, Hydrocephalus, Ty... OMIM:613153
4Q21 Microdeletion Syndrome
Agenesis of corpus callosum, Motor stereotypy, Self-injurious behavior, Ventriculomegaly, Tremor ORPHA:238750
48,Xxyy Syndrome
Motor stereotypy, Anxiety, Obesity, Ventriculomegaly, Ataxia, Depression, Tremor ORPHA:10
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Glycosuria OMIM:614817
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Dystonia, Progressive microcephaly, Ventriculomegaly, C... OMIM:610333
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydrocephalus, Anxiety, Hydronephrosis, Ventriculomegaly, Short statur... OMIM:609757
Mental Retardation, Buenos Aires Type
Atrial septal defect, Microcephaly, Partial agenesis of the corpus callosum, Failure to thrive, H... OMIM:249630
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Dural Sinus Malformation
Tetraparesis, Cerebral edema, Somatic sensory dysfunction, Parkinsonism, Dementia, Hypoplasia of ... ORPHA:97339
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Nephrotic syndrome, Failure to thrive, Hydrocephalus, Cardiomegaly OMIM:269920
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Spastic tetraparesis, Failure to thrive in infancy, Inappropriate crying, Primary microcephaly, S... ORPHA:284417
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Abnormal cerebral white ... ORPHA:352682
Melanosis, Neurocutaneous
Dandy-Walker malformation, Mental deterioration, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Hydr... ORPHA:1672
Choreoacanthocytosis
Abnormal hippocampus morphology, Aggressive behavior, Phonic tics, Apathy, Hair-pulling, Dilation... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Agenesis of corpus callosum, Micropenis, Hydronephrosis, Anencephaly, Occipital encep... OMIM:615287
Young-Onset Parkinson Disease
Impaired social interactions, Cognitive impairment, Dystonia, Anxiety, Dementia, Bradykinesia, Pa... ORPHA:2828
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Ventricular septal defect, Hydrocephal... OMIM:602501
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Aggre... OMIM:614963
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Agenesis of corpus callosum, Basal ganglia cysts, Small for gestation... ORPHA:79243
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Short stature, Hydrocephalus, Delayed puberty, Hypospadia... ORPHA:141333
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Dystonia, Increased CSF protein, Abnormal social behavior, Emotional lability, Ga... ORPHA:309256
Muscle-Eye-Brain Disease
Cognitive impairment, Hydrocephalus, Holoprosencephaly, Hemiplegia/hemiparesis, Meningocele, Hype... ORPHA:588
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum, Bicuspid aortic valve, Second... ORPHA:397951
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Mucolipidosis Iv
Microcephaly, Dysplastic corpus callosum, Hypergastrinemia, Cerebral dysmyelination OMIM:252650
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Anxiety, Aggressive beha... ORPHA:449291
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated circulating creatinine concentration, Hepa... OMIM:619111
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cognitive impairment, Spastic paraparesis, Mental deterioration, Ventriculomegaly, Ataxia, Lower ... ORPHA:395
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb hypertonia, Limb dystonia, Emo... OMIM:608643
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Ataxia, Poor coordination, Abnormality of pain sensation, Microceph... ORPHA:544254
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cognitive impairment, Polymicrogyria, Hydrocephalus, Type II lissencephaly, Leukoencephalopathy OMIM:615181
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Failure to thrive, Hypoplasia of the corpus callosum, Leukoencephalop... OMIM:614924
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Small for gestational age, Motor stereotypy, Cerebral palsy, Micr... ORPHA:352490
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Failure to thrive, Hy... OMIM:612940
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Obesity, Short stature, Hydrocephalus, Hypergonad... ORPHA:2183
Glucocorticoid Resistance, Generalized
Anxiety, Hypoglycemia OMIM:615962
Pyruvate Carboxylase Deficiency
Dystonia, Hyperintensity of cerebral white matter on MRI, Decreased CSF glutamine concentration, ... ORPHA:3008
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Progressive microcephaly, Apraxia, Athetosis, Inappropria... OMIM:613454
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosu... ORPHA:272
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature, Hypoplasia of the corpus callosum ORPHA:1516
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Patent foramen ovale, Atrial septal defe... OMIM:616854
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Nephrotic syndrome, Progressive microcephaly, Failure to thrive in in... ORPHA:488627
Amelocerebrohypohidrotic Syndrome
Dementia, Spasticity, Mental deterioration, Hydrocephalus ORPHA:1946
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Cognitive impairment, Dysmetria, Intention tr... ORPHA:616
Temple Syndrome
Intrauterine growth retardation, Small for gestational age, Overweight, Truncal obesity, Short st... OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
16P13.2 Microdeletion Syndrome
Hydrocephalus, Skin-picking, Dilated third ventricle, Micropenis, Cerebral white matter atrophy, ... ORPHA:500055
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Abnormal heart morphology, Hydrocephalus, Hypospadias OMIM:175700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Decreased body weight, Anxiety, Lower limb spasticity, Ataxia, Po... OMIM:300260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Congenital Muscular Dystrophy With Cerebellar Involvement
Proximal muscle weakness, Agenesis of corpus callosum, Dilated fourth ventricle, Occipital enceph... ORPHA:370959
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Patent foramen ovale, Extra-axial cerebrospinal fluid accumulation, H... OMIM:619179
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Atrial septal defect, Anxiety, Enuresis, Tubulointerstitial nephriti... ORPHA:459061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Cognitive impairment, Hyperlipidemia, Elevated circulating creatinine concentrati... OMIM:235400
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Micropenis, Renal hypoplasia, Obesity, Hydrocephalus, Abnormality of the septum... ORPHA:171839
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpu... ORPHA:2570
Niemann-Pick Disease Type C
Cognitive impairment, Dystonia, Abnormal social behavior, Cataplexy, Aggressive behavior, Apathy,... ORPHA:646
Developmental And Epileptic Encephalopathy 68
Microcephaly, Failure to thrive, Spasticity, Cerebral cortical atrophy, Clonus, Exaggerated start... OMIM:618201
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
L1 Syndrome
Hemiplegia/hemiparesis, Spasticity, Hydrocephalus, Aqueductal stenosis, Depression ORPHA:275543
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Delayed pu... ORPHA:2235
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Dilation of lateral ventricles, Cerebral ... ORPHA:101071
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Hydranencephaly, Ventriculomegaly, ... OMIM:225790
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Decreased serum testosterone ... OMIM:618841
1Q44 Microdeletion Syndrome
Horseshoe kidney, Agenesis of corpus callosum, Ventriculomegaly, Growth delay, Microcephaly, Shor... ORPHA:238769
Emanuel Syndrome
Unilateral renal agenesis, Cerebral atrophy, Hydrocephalus, Agenesis of corpus callosum, Intraute... ORPHA:96170
Nmda Receptor Encephalitis
Opisthotonus, Dystonia, Memory impairment, Oculogyric crisis, No social interaction, Anxiety, Cho... ORPHA:217253
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Cerebral atrophy, Unilateral renal agenesis, Hydrocephalus, Intrauter... OMIM:614576
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Microcephaly ORPHA:228402
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Rigidity, Exaggerated startle response, Agoraphobia ORPHA:3198
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Hyperintensity of cerebral white matter on... ORPHA:565624
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Aggressive behavior, Microcephaly, Irritability, Hypoplasia of the corpus callo... ORPHA:391307
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy, Ventriculomegaly, Cerebral cortical atrophy, Hypoplasia of the co... ORPHA:85277
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Secondary microcephaly, Obesity, Ataxia, Inappropriate laughter, Recurrent hand f... ORPHA:98794
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Agenesis of corpus callosum, Mild short statur... OMIM:614833
Meckel Syndrome, Type 4
Hydrocephalus, Renal cyst, Intrauterine growth retardation, Atrial septal defect, Anencephaly, Mi... OMIM:611134
Martsolf Syndrome 2
Decreased body weight, Microcephaly, Hypoplasia of the corpus callosum, Dilation of lateral ventr... OMIM:619420
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anxiety, Rigidity, Exaggerated startle response, ... OMIM:184850
Alexander Disease
Cerebral calcification, Abnormal pyramidal sign, Agenesis of corpus callosum, Self-injurious beha... ORPHA:58
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Hydrocephalus, Delayed puberty, Panhypopituitarism, Increased serum t... ORPHA:91348
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Obesity, Ataxia, Inappropriate laughter, Recurrent hand flapping, Tongue thrustin... ORPHA:411511
Biemond Syndrome Ii
Short stature, Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618577
Joubert Syndrome 14
Ataxia, Dandy-Walker malformation, Irritability, Hydrocephalus, Encephalocele OMIM:614424
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Decreased body weight, Renal tubular dysfunction, Atrial septal defect, Growth ... OMIM:614886
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Respi... OMIM:615249
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Anxiety, Conspicuously happy disposition, Ataxia, Aggressive behavior, R... OMIM:300986
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Aggressive behavior, Irritability, Bipolar af... ORPHA:3077
Multiple Sulfatase Deficiency
Cerebral atrophy, Increased CSF protein, Ventriculomegaly, Ataxia, Rapid neurologic deterioration... OMIM:272200
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Cognitive impairment, Abnormal pyr... OMIM:617527
Malan Overgrowth Syndrome
Anxiety, Ventriculomegaly, Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Epi... ORPHA:420179
Kleeblattschaedel
Hydrocephalus OMIM:148800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Distal Xq28 Microduplication Syndrome
Self-biting, Anxiety, Aggressive behavior, Poor eye contact, Microcephaly, Stereotypical body roc... ORPHA:293939
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Pachygyria, Thick corpus callosum, Megalencephaly, Hypoplasi... OMIM:603387
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Anxiety, Overweight, Failure to thrive, Spasticity, Oromotor apraxia ORPHA:391372
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Spastic tetraplegia, Ventriculomegal... OMIM:615574
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Dysmetria, Dilated fourth ventricle, Spastic tetraplegia, Athetosis, Leukoencep... ORPHA:572798
Marbach-Schaaf Neurodevelopmental Syndrome
Happy demeanor, Obesity, Aggressive behavior, Hemidystonia, Microcephaly, Recurrent hand flapping... OMIM:619680
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Dementia OMIM:236690
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Thanatophoric Dysplasia Type 2
Cognitive impairment, Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Self-injurious behavior, Renal hypoplasi... ORPHA:314679
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior, Motor stereotypy ORPHA:313892
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cystic renal dysplasia, Abnormality of the basal ganglia, Agenesis of cor... ORPHA:157
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Anxiety, Myeloproliferative dis... ORPHA:100924
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Ureteral duplication, Aplasia/Hypoplasia of the corpus callos... ORPHA:1926
Fragile X Syndrome
Recurrent hand flapping, Self-biting, Poor eye contact OMIM:300624
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Occipital cortical atrophy, Poor eye contact, Hypoplasia of the corpus callosum... ORPHA:411986
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Atrial septal defect, Subvalvular aortic stenosis, Hy... OMIM:613001
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Angelman Syndrome
Cerebral dysmyelination, Happy demeanor, Self-injurious behavior, Anxiety, Obesity, Ataxia, Aggre... ORPHA:72
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Agenesis of corpus callosum, Tricuspid atresia, Atrial se... OMIM:264480
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Dandy-Walker malformation, Hydrocephalus, Truncal ataxia, Posterior fos... OMIM:220220
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Small for gestational age, Stereotypical hand wringing, Primar... ORPHA:289266
Smith-Magenis Syndrome
Failure to thrive in infancy, Motor stereotypy, Aplasia/Hypoplasia of the corpus callosum, Self-i... ORPHA:819
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Stereotypical hand wringing, Anxiety, Lower limb spast... OMIM:300912
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Dystonia, Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia,... ORPHA:261197
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Decreased plasma total carnitine, Elevated circulating creatinine concentration, No... OMIM:608836
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Right ventricular dilatation, Probst bundles, Agenesis of corpus callosum, Intraut... OMIM:612863
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta, Urinary incontinence OMIM:182940
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Punding, Limb myoclonus, Low self esteem, Depression ORPHA:64280
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Pleural effusion, Palpebral edema, Chylous ascites, Polyh... OMIM:265300
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcep... OMIM:616362
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Hemolytic-uremic syndrome, Ventriculomegaly, Microcephaly, Failu... ORPHA:2169
3C Syndrome
Hydrocephalus, Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Ab... ORPHA:7
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormal myocardium morphology, Hydrocephalus, Cystic renal dysplasia, Ab... ORPHA:228308
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation, Ventr... OMIM:616900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Dilated cardiomyopathy, Hydrocephalus, Hypoplasia of the pyramidal tract, Encephalocele, ... OMIM:253800
Alazami Syndrome
Stereotypical hand wringing, Anxiety, Self-mutilation, Motor stereotypy ORPHA:319671
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Frontal cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:228384
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Ataxia, Aggressive behavior, Dysgenesis of the hippocampus, Noncommu... OMIM:619320
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Obesity, Microcephaly, Lissencephal... OMIM:612938
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
1Q21.1 Microdeletion Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Anxiety, Hydronephrosis, Microcepha... ORPHA:250989
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Self-biting, Aggressive behavior, Motor stereotypy ORPHA:3306
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Motor stereotypy ORPHA:397612
Lamb-Shaffer Syndrome
Motor stereotypy, Abnormal social behavior, Ataxia, Microcephaly, Upper motor neuron dysfunction ORPHA:530983
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Horseshoe kidney, Microcephaly, Partial agenesis of the corpus callos... OMIM:619103
Intellectual Developmental Disorder, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Recurrent hand flapping OMIM:615516
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Micropenis... ORPHA:478
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Low frustration tolerance, Motor stereotypy, Cavum septum pe... ORPHA:457279
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Hypoplasia of penis, Ventriculomegaly, M... ORPHA:899
Chiari Malformation Type Ii
Myelomeningocele, Opisthotonus, Agenesis of corpus callosum, Ataxia, Spina bifida, Hydrocephalus,... OMIM:207950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Short stature, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Memory impairment, Hypopituitarism, Increased CSF lactate, Progressive neur... ORPHA:90065
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Abnormal pyramidal sign, Dysmetria, Memory impairment, Intention trem... ORPHA:314647
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Ventriculomegaly, Hydrocephalus ORPHA:163961
Tenorio Syndrome
Cavum septum pellucidum, Anxiety, Ventriculomegaly, Cerebral palsy, Cerebral cortical atrophy, Hy... OMIM:616260
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Hypoplasia of penis, Growth delay, Ventricular septal defect, Hydroc... ORPHA:77298
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Insulin resistance... ORPHA:230
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Cerebral palsy, Hypoplasia of the corpus callosum, ... OMIM:618914
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-biting, Hemiballismus, Repetitive compulsive behavior, Dystonia, Choreoathetosis, Motor ster... ORPHA:522077
47,Xyy Syndrome
Impaired social interactions, Micropenis, Increased serum testosterone level, Hydrocephalus, Incr... ORPHA:8
Ventriculomegaly With Defects Of The Radius And Kidney
Ectopic kidney, Horseshoe kidney, Ureteral duplication, Ventriculomegaly, Hydrocephalus, Dilation... OMIM:602200
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Spastic tetraparesis, Hypertonia, Dystonia, Spastic tet... OMIM:619487
Triploidy
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of penis, ... ORPHA:3376
Bresek Syndrome
Intrauterine growth retardation, Renal hypoplasia, Growth delay, Microcephaly, Hydrocephalus, Ves... ORPHA:85284
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Disproportionate short-limb short stature, Intrauterine growth retarda... OMIM:101800
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Intrauterine growth retardation, Severe ... ORPHA:35107
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Nephrocalcinosis, Short stature, Abnormality of thalamus morphology, ... ORPHA:557003
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Self-injurious behavior, Limb hypertonia, Limb dystonia, Primary microcephaly, ... ORPHA:457351
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918