Gene Summary

Name:
AT-rich interaction domain 1B
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 locomotor activity Arid1bem1(IMPC)Tcp HET   Early adult 2.18×10-07
decreased exploration in new environment Arid1bem1(IMPC)Tcp HET Early adult 7.22×10-06
decreased fasting circulating glucose level Arid1bem1(IMPC)Tcp HET Early adult 1.15×10-05
edema Arid1bem1(IMPC)Tcp HOM E15.5 0.00
impaired cued conditioning behavior Arid1bem1(IMPC)Tcp HET Early adult 2.89×10-05
increased circulating creatinine level Arid1bem1(IMPC)Tcp HET Early adult 9.38×10-05
decreased prepulse inhibition Arid1bem1(IMPC)Tcp HET Early adult 5.81×10-12
abnormal freezing behavior Arid1bem1(IMPC)Tcp HET Early adult 1.02×10-05
male infertility Arid1btm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal spleen morphology Arid1bem1(IMPC)Tcp HET Early adult 0.00
increased freezing behavior Arid1bem1(IMPC)Tcp HET Early adult 4.01×10-06
preweaning lethality, incomplete penetrance Arid1btm1b(EUCOMM)Hmgu HOM   Early adult 0.00
preweaning lethality, complete penetrance Arid1bem1(IMPC)Tcp HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Skull Lateral Orientation

22 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Forepaw

12 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

22 Images

Eye Morphology

Images Slit Lamp

1 Images

Anti-nuclear antibody assay

Images

6 Images

Gross Morphology Embryo E14.5-E15.5

Images

8 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Histopathology

Images

1 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Ear epidermis immunophenotyping

Images

12 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
Lipedema
Edema OMIM:614103
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... OMIM:618709
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pineocytoma
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... ORPHA:251912
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Cognitive impairment ORPHA:2807
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
N-Acetylaspartate Deficiency
Short attention span, Truncal ataxia, Decreased body weight, Abnormal repetitive mannerisms, Self... OMIM:614063
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Atypical Teratoid Rhabdoid Tumor
Irritability, Hydrocephalus, Ataxia ORPHA:99966
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repetiti... OMIM:619150
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms, Ven... OMIM:617862
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight ORPHA:324422
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Hand tremor, Depression, Lateral ventricle dilatation, Dementia, Dystonia OMIM:615889
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Foxg1 Syndrome
Dystonia, Abnormal repetitive mannerisms, Choreoathetosis, Impaired social interactions, Bruxism,... ORPHA:561854
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive, Attention deficit hyperactivity disorder ORPHA:250994
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
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
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Hydrocephalus, Abnormal repetitive mannerisms OMIM:619470
Nasu-Hakola Disease
Hydrocephalus, Chorea, Frontal lobe dementia, Irritability, Disinhibition, Memory impairment, Ven... ORPHA:2770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... ORPHA:309246
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Dysphagia, Abnormal social behavior, Ventr... ORPHA:391417
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Pyknoachondrogenesis
Stillbirth OMIM:265880
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Hydrocephalus ORPHA:1008
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:220386
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Short stature, Impulsivity, Precoc... ORPHA:398069
Lymphatic Malformation 3
Lymphedema OMIM:613480
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Par... ORPHA:73256
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly OMIM:615938
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Cognitive impairment, Impaired pain sensation ORPHA:1532
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Growth delay, Primary microcephaly, Overfriendli... OMIM:618010
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Central Precocious Puberty In Male
Hydrocephalus, Hypothalamic hamartoma, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:649929
Papillary Tumor Of The Pineal Region
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... ORPHA:251915
White Sponge Nevus 2
Edema OMIM:615785
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Failu... OMIM:618276
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Inappropriate... OMIM:221770
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... OMIM:617872
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom... OMIM:615937
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions, Dystonia OMIM:617820
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Dilated third... OMIM:619725
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr... ORPHA:2703
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Pontocerebellar Hypoplasia, Type 11
Ataxia, Abnormal repetitive mannerisms, Limb ataxia, Self-injurious behavior, Attention deficit h... OMIM:617695
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism, Muscle weakness, Short stature OMIM:275120
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder ORPHA:261102
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... OMIM:618342
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation OMIM:300558
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... ORPHA:100924
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Gait ataxia, Ch... OMIM:619580
2,4-Dienoyl-Coa Reductase Deficiency
Poor head control, Microcephaly, Hydrocephalus, Ophthalmoplegia, Cerebral atrophy, Increased CSF ... OMIM:616034
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Self-mutilation OMIM:300884
Lymphatic Malformation 10
Lymphedema OMIM:619369
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Christianson Syndrome
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repe... ORPHA:85278
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Abnormal heart morphology, Small cerebral cortex, Colp... ORPHA:2185
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Failure to thrive, Abnormal repetitive mannerisms OMIM:617393
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ... OMIM:620135
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Fried Syndrome
Hydrocephalus, Aggressive behavior ORPHA:85335
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Poor head control, Hydrocephalus, Simplified gyral p... OMIM:613153
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g... OMIM:619302
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Dystonia, Ataxia, Impulsivity, Lateral ventricle dilatation, ... OMIM:617854
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Aggr... OMIM:612736
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Stxbp1-Related Encephalopathy
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Lateral ventricle dilatation, Dystonia, Depression ORPHA:306669
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia, Elevated circulating creatinine concentration, Abnorm... ORPHA:275555
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation OMIM:616521
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Failure to thrive, Abnorm... ORPHA:927
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Cognitive impairment, Attention deficit hyperactivity disorder, Abn... ORPHA:300573
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Alexander Disease Type I
Ataxia, Cachexia, Hydrocephalus, Dysphagia, Failure to thrive ORPHA:363717
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Baker-Gordon Syndrome
Ataxia, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms OMIM:618218
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly, Cognitive impairment ORPHA:858
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... OMIM:618718
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Impaired social i... OMIM:610042
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive... OMIM:618917
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Severe Intellectual Disability And Progressive Spastic Paraplegia
Overweight, Dystonia, Abnormal repetitive mannerisms, Shyness ORPHA:280763
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Short stature, Hydrocephalus, Horseshoe kidney, Hypoplasi... OMIM:218350
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Emotio... ORPHA:79264
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Cach Syndrome
Progressive neurologic deterioration, Truncal ataxia, Dysmetria, Limb ataxia, Irritability, Later... ORPHA:135
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Melanosis, Neurocutaneous
Mental deterioration, Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi... ORPHA:1528
Diencephalic Syndrome
Cachexia, Hydrocephalus, Long penis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Hydrocephalus, Attention deficit hyperactivity disorder, Failure to th... OMIM:609757
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Progressive neurologic deterioration, Nodular regenerative hyperplasia of live... ORPHA:247691
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... OMIM:617600
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Chorea, Irritability, Failure to thrive OMIM:617864
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv... ORPHA:10
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Inappropriate lau... OMIM:614104
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic deterioration OMIM:620315
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Hydrocephalus, Inappropriate laughter, Cognitive impairment, Mental det... OMIM:618476
Xq28 (MECP2) duplication
Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms DECIPHER:45
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Limb dystonia, Dystonia, Ataxia, Tremor, Chorea, Dysphagia, Athetosi... ORPHA:25
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Obesity, Hypogonadism, ... ORPHA:141333
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Mitral valve prolapse, Abn... ORPHA:2183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Short stature, Microcephaly, Aggressive behavior, Hydrocephalus, Irritability, ... OMIM:619833
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Microcephaly, Pachygyria, Dysplastic corpus callosum, Simplified gyral pattern, St... OMIM:619179
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca... OMIM:304100
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Microcephaly, Hydrocephalus, Periventricular leukomalacia, Muscle weak... OMIM:618302
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Proximal muscl... ORPHA:370959
Krabbe Disease
Failure to thrive, Hydrocephalus, Motor deterioration, Increased CSF protein concentration OMIM:245200
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated circulating creatinine concentration, Hepa... OMIM:619111
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Ventricul... OMIM:613443
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... OMIM:207950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso... OMIM:619320
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Cognitive impairment, Attention deficit hyperactivity disorder, ... ORPHA:98784
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Patent foramen ovale, Vesicoureteral reflux, Re... OMIM:616854
Mucolipidosis Iv
Dysplastic corpus callosum, Hypergastrinemia, Cerebral dysmyelination, Microcephaly OMIM:252650
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hand tremor, Limb ataxia, Lateral ventricle dilatation, Dysphagia OMIM:607596
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Emotional lability, Depressi... ORPHA:309271
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Obesity, Choreoathetosis, Impaired social interactions, Attention deficit hyperactivity... ORPHA:261197
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... OMIM:182290
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Lateral ventricle dilatati... ORPHA:208447
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Micro... ORPHA:96170
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Peri... OMIM:619737
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:615637
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Jaundice, Schistocytosis, Elevated circulating creatinine concentrati... OMIM:274150
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Failure to thrive, Overweight, Hydrocephalus, Head-banging, Self-injurious ... OMIM:619575
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Reduced cerebral white matter volume, Hydrocephalus, Secondary microcephaly, Hypop... OMIM:618174
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia ORPHA:488635
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Irritability, Progressive cerebellar ataxia, Cognitive impairme... ORPHA:616
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Increased CSF lactate... OMIM:604273
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Overweight, Mental deterioration, Obesity, Memory impairment, Later... ORPHA:2822
Developmental And Epileptic Encephalopathy 6B
Ataxia, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms OMIM:619317
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... ORPHA:488627
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mann... OMIM:618004
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Weight loss, Blepharospasm, Li... ORPHA:93958
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Dilated third ventricle, Overweight, Hydroce... ORPHA:500055
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
1Q44 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Horseshoe kidney, Growth delay, Abnormal cardiac sept... ORPHA:238769
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Motor deterioration, Dementia, Low frustration tolera... ORPHA:168491
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms OMIM:619092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hydrocephalus, Cerebral atrophy, Nephrotic syndrome, Failure to thrive OMIM:269920
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, A... ORPHA:90065
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Dysmetria, Attention deficit hyperactivity disorder, Truncal ataxia, Abnorma... OMIM:619121
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Developmental And Epileptic Encephalopathy 31B
Opisthotonus, Irritability, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpus... OMIM:620352
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Torticollis, Partial agenesis of the corpus callosum, Delay... ORPHA:300570
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608836
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus, Short stature OMIM:210350
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Stereotypical hand wri... OMIM:304340
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Microcephaly, Hydrocephalus, Micropenis, Hypothalamic ham... OMIM:241800
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria OMIM:615605
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp... OMIM:615599
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ... ORPHA:54595
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen... OMIM:615191
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Impaired social interactions, Attention deficit hypera... ORPHA:8
4Q21 Microdeletion Syndrome
Tremor, Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Ven... ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Microcephaly, Hydrocephalus, Cardiomyopathy, Hypoplasia of the corpus callosum, Foc... OMIM:613155
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Attention deficit hypera... OMIM:300986
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly, Cognitive impairment ORPHA:588
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Tongue thrusting ORPHA:77299
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Pol... ORPHA:83473
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Depression, Social and occupation... ORPHA:2356
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi... OMIM:614833
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia ORPHA:2148
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Unilateral renal... OMIM:620305
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Growth del... OMIM:620156
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter... OMIM:619955
Kleeblattschaedel
Hydrocephalus OMIM:148800
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Hydrocephalus, Dementia ORPHA:1946
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Attention deficit hyperacti... ORPHA:459061
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:85277
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Dysmetria, Depression, Dysp... ORPHA:845
Hydrocephalus, Normal-Pressure, 1
Dementia, Normal pressure hydrocephalus OMIM:236690
Hogue-Janssen Syndrome 2
Unilateral renal agenesis, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenes... OMIM:616362
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Depression, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Cognitive impairment, Ventriculomegaly ORPHA:93274
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus ca... ORPHA:272
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Bruxism, Depression, Hostilit... OMIM:300260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Poor head control, Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus,... OMIM:615249
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... OMIM:600430
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Houge-Janssens Syndrome 3
Self-injurious behavior, Ventriculomegaly, Abnormal repetitive mannerisms, Attention deficit hype... OMIM:618354
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Depression ORPHA:275543
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Chorea, Mild fetal vent... OMIM:619435
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Rett Syndrome
Dystonia, Cachexia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Stereotypical hand... OMIM:312750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... OMIM:253800
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ventriculomegaly, Ataxia, Overweight, Tremor, Obesity, Lateral ventricle di... OMIM:619229
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleioc... OMIM:610333
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Choreoacanthocytosis
Chorea, Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired... ORPHA:2388
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired soc... OMIM:615656
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Ventriculomegaly, Small for gestational age, Hypospadias, Short sta... OMIM:257300
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... OMIM:608104
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria... OMIM:602501
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Microcephaly, Complet... OMIM:264480
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Polymicrogyria, Hydrocephalus, Red-brown urine, Stage 5 chronic kidney di... ORPHA:157
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation, Hypop... OMIM:616900
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Abnormal repetitive mannerisms, Ventriculomegaly, Gait ataxia OMIM:617807
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morpholog... ORPHA:7
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Micro... OMIM:609029
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia ORPHA:163961
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callos... ORPHA:2524
Cerebrofacioarticular Syndrome
Hypospadias, Short stature, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Absence o... ORPHA:314679
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Hypospadias, Microcephaly, Focal polymicrogyria, Dysplastic corpus cal... OMIM:619103
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Agenesis of corpus callosum, Attention... OMIM:619312
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Abnormal rep... OMIM:123450
1Q21.1 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Depression, Abnormal cardiac septum morphology, Atten... ORPHA:250989
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Abnormal cortical gyration, Unilateral renal agenesis, Microcephaly, H... OMIM:614576
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Obesity, Renal hypoplasia, Cerebral atrophy, Abnormal septum pellucid... ORPHA:171839
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Temple Syndrome
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature, Hypoplasia of the corpus callosum ORPHA:1516
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate... ORPHA:79243
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... ORPHA:397951
Alexander Disease
Diabetes mellitus, Cerebral calcification, Facial palsy, Megalencephaly, Precocious puberty, Hypo... ORPHA:58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cerebral calcification, Intracerebral periventricular... ORPHA:228308
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Impaired vibration sensation in the lower limbs ORPHA:401815
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Type... ORPHA:352682
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:228384
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricul... OMIM:612863
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Hypoplasia of the ovary, Decr... OMIM:618841
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of t... OMIM:613001
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxis... OMIM:613454
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Ventriculomegaly, Exaggerated startle response, Dysplastic corpus callosum, Hydroc... OMIM:617281
Snijders Blok-Campeau Syndrome
Ventriculomegaly, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Hydrocephalus, Growth delay, Holopro... ORPHA:77298
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504