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Gene: Srgap3 MGI:2152938

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SLIT-ROBO Rho GTPase activating protein 3

Synonyms:

D130026O08Rik, Arhgap14

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Srgap3 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.

Human diseases associated with Srgap3 (0 diseases)
Human diseases predicted to be associated with Srgap3 (608 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Srgap3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Cortical dysplasia, Hydrocephalus, Attention deficit hyperactivity disorder...	OMIM:618709
Pineocytoma	Hydrocephalus, Cognitive impairment, Difficulty walking, Episodic ataxia, Memory impairment, Incr...	ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Glioblastoma	Emotional lability, Abnormal cerebral white matter morphology, Memory impairment, Cerebral edema,...	ORPHA:360
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Microcephaly, Increased circulating gonadotropin level, Absence o...	ORPHA:163976
Atypical Teratoid Rhabdoid Tumor	Irritability, Hydrocephalus, Cerebral calcification, Ataxia	ORPHA:99966
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Cerebral white matter atrophy, Ventriculomegaly, Ataxia, Myelopathy, Leukoencephalo...	OMIM:617186
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Spastic Paraplegia 26, Autosomal Recessive	Ataxia, Dysmetria, Tip-toe gait, Cerebral cortical atrophy, Difficulty walking, Emotional labilit...	OMIM:609195
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Mania, Mem...	ORPHA:247585
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of...	OMIM:604213
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus, Cognitive impairment	ORPHA:2807
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr...	ORPHA:2703
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Simplified gyr...	OMIM:619470
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Ataxia, Confusion, Aggressive behavior, Diffuse wh...	ORPHA:83597
Autosomal Recessive Spastic Paraplegia Type 26	Pseudobulbar paralysis, Gait disturbance, Hyperintensity of cerebral white matter on MRI, Decreas...	ORPHA:101006
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Truncal ataxia,...	OMIM:608636
49,Xyyyy Syndrome	Impulsivity, Increased circulating gonadotropin level, Abnormal cerebral white matter morphology,...	ORPHA:99330
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ventriculomegaly, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of th...	OMIM:613402
49,Xxxyy Syndrome	Increased circulating gonadotropin level, Abnormal cerebral white matter morphology, Primary gona...	ORPHA:261534
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Ataxia, Aggressive behavior, Cerebral atrophy, Gait ataxia, Abnormal cerebral w...	OMIM:618321
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Ataxia, Cerebral edema, Irritability	OMIM:237300
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy...	OMIM:301107
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Confusion, Depression, Abnormal cerebral white matter morphology, Hypothyroidism, Hashimoto thyro...	ORPHA:83601
Kcnq2-Related Epileptic Encephalopathy	Abnormal globus pallidus morphology, Inability to walk, Cerebral atrophy, Abnormal cerebral white...	ORPHA:439218
Dural Sinus Malformation	Ataxia, Myelopathy, Hydrocephalus, Dementia, Mental deterioration, Hypoplasia of the frontal lobe...	ORPHA:97339
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Shyness, Microcephaly, Increased circulating gonadotropin level, ...	ORPHA:163971
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Juvenile Huntington Disease	Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Hyperactivity, Gait ataxia, Bradykinesi...	ORPHA:248111
Migraine, Familial Hemiplegic, 2	Confusion, Dysmetria, Gait ataxia, Episodic ataxia, Cerebral edema	OMIM:602481
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Herpes Simplex Virus Encephalitis	CSF lymphocytic pleiocytosis, Addictive alcohol use, Hypoglycorrhachia, Increased CSF protein con...	ORPHA:1930
Hsd10 Disease	Short attention span, Ataxia, Microcephaly, Frontotemporal cerebral atrophy, Choreoathetosis, Gai...	ORPHA:391417
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Japanese Encephalitis	Increased CSF protein concentration, Abnormal substantia nigra morphology, Anorexia, Paucity of a...	ORPHA:79139
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Increased CSF protein concentration, Cerebral edema	OMIM:608033
Familial Or Sporadic Hemiplegic Migraine	Confusion, CSF pleocytosis, CSF lymphocytic pleiocytosis, Progressive gait ataxia, Increased CSF ...	ORPHA:569
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Amoebiasis Due To Free-Living Amoebae	Restlessness, Ataxia, Confusion, Abnormal cerebrospinal fluid morphology, Abnormal basal ganglia ...	ORPHA:68
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Gait disturbance, Cerebral edema, Increased CSF protein concentration	ORPHA:88619
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Truncal at...	OMIM:220200
Masa Syndrome	Microcephaly, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Frontal lobe dementia, Irritability, Disinhibition, Memory...	ORPHA:2770
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Maple Syrup Urine Disease	Lethargy, Ataxia, Cerebral edema	OMIM:248600
Angiostrongyliasis	CSF pleocytosis, Ventriculomegaly, Irritability, Cerebral edema	ORPHA:74
Fried Syndrome	Hydrocephalus, Cerebral calcification, Gait disturbance, Aggressive behavior	ORPHA:85335
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Papillary Tumor Of The Pineal Region	Hydrocephalus, Cognitive impairment, Difficulty walking, Episodic ataxia, Memory impairment, Incr...	ORPHA:251915
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Gait disturbance, Microcephaly	ORPHA:26
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Cerebral edema	OMIM:201450
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Memory impairment, Hydrocephalus	ORPHA:1008
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Ataxia, Hydrocephalus, Depression,...	ORPHA:73256
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Cerebral edema	OMIM:614212
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Citrullinemia, Type Ii, Adult-Onset	Confusion, Cerebral edema	OMIM:603471
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Corpus callosum atrophy, Cerebral edema, Cerebral atrophy, Microcephaly	OMIM:619876
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decreased circulating lutei...	ORPHA:453533
Spermatogenic Failure 28	Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev...	OMIM:618086
Reversible Cerebral Vasoconstriction Syndrome	Confusion, Ischemic stroke, Cerebral edema, Leukoencephalopathy	ORPHA:284388
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Self-mutilation, Cerebral atrophy, Microcephaly	OMIM:300884
Argininosuccinic Aciduria	Ataxia, Irritability, Lethargy, Cerebral edema, Elevated CSF argininosuccinic acid concentration	OMIM:207900
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:616030
Spermatogenic Failure, X-Linked, 4	Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic...	OMIM:301077
Cln3 Disease	Ataxia, Aggressive behavior, Mental deterioration, Increased circulating androgen concentration, ...	ORPHA:228346
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral edema, Cerebral atrophy, Microcephaly	OMIM:614462
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Irritability, Episodic ataxia, Lethargy, Cerebral edema	OMIM:311250
Citrullinemia, Classic	Lethargy, Ataxia, Cerebral edema, Irritability	OMIM:215700
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased serum testosterone concentration, Increased circulating gonadotropin level, Hypogonadism	OMIM:300869
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia, Cognitive impairment	ORPHA:1532
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Emotional lability, Irritability, Hypogonadism, Lethargy, Decreased serum testosterone co...	OMIM:201100
Ethylene Glycol Poisoning	Ataxia, Confusion, Euphoria, Addictive alcohol use, Cerebral edema, Pulmonary edema	ORPHA:31826
1Q21.1 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:250994
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Increased circulating gonadotropin level, Steppage gait, Decreased serum estradiol,...	ORPHA:168563
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Microcephaly, Aggressive behavior, Self-biting, Bradykinesia, Self-in...	OMIM:619827
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Ventriculomegaly, Cerebral edema	OMIM:619355
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g...	OMIM:619302
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Reduced cerebral white matter volume, Inability to walk, Hydrocephalus, Secondary microce...	OMIM:618174
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration, Hypoplasia of th...	OMIM:614841
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Lujo Hemorrhagic Fever	Confusion, Facial edema, Periorbital edema, Dysphagia, Mental deterioration, Cerebral edema, Gene...	ORPHA:319213
Cryptococcosis	Hydrocephalus, Mental deterioration, Memory impairment, Pleural effusion, Cerebral cortical atrop...	ORPHA:1546
Meningioma	Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro...	ORPHA:2495
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Central Precocious Puberty In Male	Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Attention deficit hyperactivity disor...	ORPHA:649929
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, De...	OMIM:308700
Combined Oxidative Phosphorylation Deficiency 33	Hypothyroidism, Cerebral edema, Oligohydramnios	OMIM:617713
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased...	OMIM:228300
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resistant diabetes mellit...	ORPHA:2959
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube...	ORPHA:90793
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo...	OMIM:614897
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen...	OMIM:615191
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short attention span, Aggressive behavior, Microcephaly, Hydrocephal...	OMIM:300558
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Inability to walk, Lissencephaly, Cognitive impairment, Dysphagia, Pachygyria, Cerebral edema	ORPHA:258
Acyl-Coa Dehydrogenase 9 Deficiency	Fatigable weakness, Cerebral edema	ORPHA:99901
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Cerebral atrophy, Thin corpus callosum, Polyphagia, Self-muti...	OMIM:616521
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co...	OMIM:614839
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula...	OMIM:273250
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi...	ORPHA:1528
Panhypophysitis	Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad...	ORPHA:95513
Mitochondrial Complex I Deficiency, Nuclear Type 1	Ataxia, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalopathy, Increased C...	OMIM:252010
47,Xyy Syndrome	Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Impaired soc...	ORPHA:8
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:305400
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, G...	ORPHA:52901
Mitochondrial Complex I Deficiency, Nuclear Type 20	Cerebral edema	OMIM:611126
Alexander Disease Type I	Ataxia, Hydrocephalus, Abnormal cerebral white matter morphology, Dysphagia, Focal T2 hyperintens...	ORPHA:363717
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Polyhydramnios, Oral-pharyngeal dysphagia,...	ORPHA:273
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Type...	ORPHA:352682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Hydrocephalus, Congenital, 3, With Brain Anomalies	Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation, Ven...	OMIM:617967
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder	ORPHA:261102
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca...	OMIM:304100
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Joint swelling, Lethargy, Decreased serum testo...	ORPHA:465508
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Neurofibrillary tangles, Dementia, Agitation, Disinhibition, Semantic dementia...	ORPHA:1020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Abnormal ce...	OMIM:613153
Congenital Toxoplasmosis	Cerebral calcification, Microcephaly, Hydrocephalus, Cognitive impairment, Ascites, Ventriculomegaly	ORPHA:858
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypoplasia ...	ORPHA:444002
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:616950
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Co...	OMIM:616034
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus	OMIM:210350
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria	OMIM:203450
Acute Liver Failure	Ataxia, Confusion, Depression, Euphoria, Agitation, Adrenal insufficiency, Emotional lability, Ce...	ORPHA:90062
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:108420
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Cerebral calcification, Ataxia, Hydrocephalus, Mental deterioration, Inappropri...	OMIM:618476
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	ORPHA:324416
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Absence of secondary sex characteristics, Abs...	ORPHA:432
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleioc...	OMIM:610333
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
X-Linked Intellectual Disability, Snyder Type	Megalencephaly, Inability to walk, Unsteady gait, Testicular atrophy, Cerebral edema	ORPHA:3063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Inability to walk, Hydrocephalus, Hypoplasia of the corpus callosum, Focal cortical...	OMIM:613155
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum	OMIM:617542
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Impulsivity, Microcephaly, Aggressive behavior, Dilated third vent...	ORPHA:500055
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Hydrocephalus, Gait disturbance, Attention...	OMIM:609757
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance...	ORPHA:272
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Inability to walk, Partial agenesis of the corpus callosum,...	ORPHA:300570
Hydrocephalus, Normal-Pressure, 1	Dementia, Gait disturbance, Normal pressure hydrocephalus	OMIM:236690
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Polyhydramnios, Microcephaly, Akinesia, Hydrocephalus, Hydranencephaly, Polymic...	OMIM:225790
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ataxia, Polyhydramnios, Microcephaly, Aggressive behavior, Hydrocephalus, Self-injurious behavior...	OMIM:619833
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, T2 hypointense basal ganglia, Abnorma...	ORPHA:25
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:397951
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression	ORPHA:275543
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis o...	OMIM:207950
Melanosis, Neurocutaneous	Mental deterioration, Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A...	OMIM:616362
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:618577
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Inability to walk by childhood/adolescence, Steppage gait, Hydrocephalus	ORPHA:99947
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Delayed puberty	ORPHA:141333
Pettigrew Syndrome	Ventriculomegaly, Cerebral calcification, Microcephaly, Aggressive behavior, Basal ganglia calcif...	OMIM:304340
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Mi...	ORPHA:2356
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:307000
Leydig Cell Hypoplasia	Hypergonadotropic hypogonadism, Female hypogonadism, Increased circulating gonadotropin level, Ab...	ORPHA:755
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly, Cognitive impairment	ORPHA:588
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Shyness, Aggressive beha...	ORPHA:449291
Thanatophoric Dysplasia Type 2	Encephalocele, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Holoprosencephaly, C...	ORPHA:93274
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Hydrocephalus, Truncal at...	OMIM:220220
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Abnormal cerebral cortex morphology, Hydrocephalus, Dysphagia, Dandy-Walker mal...	ORPHA:163961
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Type I diabetes mellitus, Decreased serum testosterone concentration, Elevated circulating follic...	ORPHA:3044
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Central diab...	ORPHA:91348
Krabbe Disease	Diffuse cerebral atrophy, Motor deterioration, Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso...	OMIM:619320
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, I...	ORPHA:90065
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon...	OMIM:620103
Diencephalic Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis	ORPHA:1672
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Aggressive behavior, Microcephaly, Attention deficit hyperactivity disorder, De...	ORPHA:495875
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Microcephaly, Increased circulating gonadotropin le...	ORPHA:2232
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Hypoplasia of the corpus callosum	ORPHA:1516
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Infantile Sialic Acid Storage Disease	Hydrocephalus, Ascites, Hydrops fetalis, Cerebral atrophy	OMIM:269920
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Hydrocephalus, Type II...	ORPHA:254516
Tenorio Syndrome	Hydrocephalus, Emotional lability, Gait disturbance, Cerebral cortical atrophy, Cavum septum pell...	OMIM:616260
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Microcephaly, Abnormal temper tantrums, Abnormal social behavior, Abnormal...	ORPHA:530983
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Gait disturbance,...	ORPHA:395
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Cerebral Visual Impairment	Short attention span, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abn...	ORPHA:447788
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ataxia, Periorbital edema, Hydrocephalus, Cerebral atrophy, ...	OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Polymicrogyria, Type II lissencephaly, Leukoencephalopathy	OMIM:615181
Optic Pathway Glioma	Precocious puberty, Hydrocephalus, Fatigable weakness	ORPHA:2086
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Diffuse white ...	ORPHA:370959
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second...	ORPHA:90796
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:218350
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog...	ORPHA:309271
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr...	OMIM:603387
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Cerebral atrophy, Gait...	OMIM:610217
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebral calcification, Ventriculomegaly, Microcephaly, Basal ganglia calcificatio...	OMIM:617281
Amelocerebrohypohidrotic Syndrome	Mental deterioration, Hydrocephalus, Dementia	ORPHA:1946
Alexander Disease	Cerebral calcification, Ataxia, Diabetes mellitus, Megalencephaly, Precocious puberty, Hypothyroi...	ORPHA:58
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria, Olig...	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Lissencephaly, Agenesis of corpus callosum...	OMIM:615249
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Irritability, Cognitive impairme...	ORPHA:616
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Hydrops fetalis, Polyhydramnios, Oligohydramnios	ORPHA:163596
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance	ORPHA:2181
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa...	OMIM:615962
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Abnormal septum pellucidum morphology, Hydrocephalus, Cerebral atrophy	ORPHA:171839
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l...	ORPHA:309263
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Thanatophoric Dysplasia	Increased nuchal translucency, Hydrocephalus, Polyhydramnios, Ventriculomegaly	ORPHA:2655
Joubert Syndrome With Renal Defect	Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Abnormality of the hypothalamus-pituitary...	ORPHA:220497
Ovarian Fibrothecoma	Pleural effusion, Ascites, Abnormal circulating hormone concentration, Increased serum testostero...	ORPHA:314478
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Ventriculomegaly, Increased serum testosterone level	ORPHA:96181
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Gait disturbance, Microcephaly	OMIM:613330
Walker-Warburg Syndrome	Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria,...	ORPHA:899
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Fg Syndrome Type 1	Broad-based gait, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Small pituitary gland...	ORPHA:93932
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc...	ORPHA:251510
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Attention deficit hyperact...	ORPHA:459061
Pallister-Hall-Like Syndrome	Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Microcephaly	OMIM:241800
Joubert Syndrome 14	Encephalocele, Ataxia, Hydrocephalus, Meningocele, Irritability, Hypoplasia of the corpus callosu...	OMIM:614424
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation, Hypothyroidism, Edema	ORPHA:79332
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Lethargy, Ventriculomegaly	ORPHA:2169
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon...	ORPHA:168558
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Aplasia/Hypoplasia of the c...	ORPHA:1908
Griscelli Syndrome	Encephalocele, Ataxia, Hydrocephalus, Pedal edema, Ascites	ORPHA:381
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corp...	OMIM:614576
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Increased circulating gonadotropin level, Peripheral edema, Increased serum test...	ORPHA:64739
Joubert Syndrome With Ocular Defect	Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Abnormality of the hypothalamus-pituitary...	ORPHA:220493
Whipple Disease	Ataxia, Anorexia, Hydrocephalus, Pedal edema, Depression, Polydipsia, Hypothyroidism	ORPHA:3452
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior,...	ORPHA:309256
Emanuel Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter m...	ORPHA:96170
Alg6-Cdg	Puberty and gonadal disorders, Ataxia, Increased circulating androgen concentration	ORPHA:79320
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished abi...	OMIM:612863
Peho Syndrome	Palpebral edema, Microcephaly, Hydrocephalus, Porencephalic cyst, Pedal edema, Peripheral edema, ...	ORPHA:2836
Meckel Syndrome, Type 4	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Hypoplasia of the corpus ca...	OMIM:611134
Hydrolethalus	Absent septum pellucidum, Polyhydramnios, Hydrocephalus, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Joubert Syndrome	Encephalocele, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance...	ORPHA:475
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly	ORPHA:398189
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Trisomy 1Q	Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Hydrops fetalis, Agenesis of corpus...	ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Partial agenesis of the corpu...	OMIM:614643
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Polyhydramnios, Hydrocephalus, Agenesis of corpus callosum, Gait disturbance, Hypothyroidism, Ven...	ORPHA:1812
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Polyhydramnios	OMIM:600559
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Aplasia/Hypoplasia of the corpus ca...	OMIM:617822
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Ataxia, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Hypoplasia of the cor...	OMIM:614969
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Temple Syndrome	Precocious puberty, Hydrocephalus, Maturity-onset diabetes of the young	OMIM:616222
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Cortical dysplasia, ...	ORPHA:805
Gorlin Syndrome	Hydrocephalus, Cerebral calcification, Hypogonadotropic hypogonadism	ORPHA:377
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Hypogonadism	OMIM:601794
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testoste...	ORPHA:1772
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:35107
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ...	ORPHA:99429
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Hypoplasia of the corpus callosum, Microcephaly	OMIM:620157
Emanuel Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosu...	OMIM:609029
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ...	OMIM:619475
Niemann-Pick Disease Type C	Ataxia, Fetal ascites, Aggressive behavior, Progressive neurologic deterioration, Mental deterior...	ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,...	OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Polymicrogyria, Hydrocephalus, Lissencephaly, Holoprosencephaly, Pachygyria, Agene...	OMIM:253800
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc...	OMIM:619895
Joubert Syndrome With Oculorenal Defect	Encephalocele, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Abnormality of t...	ORPHA:2318
Triploidy	Polyhydramnios, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:3376
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Microcephaly, Hydrocephalus, Hydrops fetalis, Cerebral atrophy, Dehydration, Leukoencepha...	ORPHA:79282
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Polyhydramnios	OMIM:310400
Robinow Syndrome	Decreased serum testosterone concentration	ORPHA:97360
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dil...	OMIM:619575
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyr...	ORPHA:1647
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
46,Xx Sex Reversal 2	Decreased serum testosterone concentration	OMIM:278850
Congenital Sialidosis Type 2	Ataxia, Edema, Hydrocephalus, Dysmetria, Ascites	ORPHA:93400
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:93924
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Decreased response to growth hormone stimulation test, ...	OMIM:220210
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
1Q21.1 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Depression, Attention deficit hyperactivity disorder, Agenesis of co...	ORPHA:250989
48,Xxxy Syndrome	Irritability, Hypogonadism, Type II diabetes mellitus, Attention deficit hyperactivity disorder, ...	ORPHA:96263
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Microcephaly, Hydrocephalus, Dementia, Cerebral cortical atrophy, Lethargy, Delirium	OMIM:277400
Diabetic Embryopathy	Hydrocephalus, Microcephaly, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1926
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesi...	OMIM:613001
46,Xx Sex Reversal 5	Increased serum testosterone level	OMIM:618901
Rhombencephalosynapsis	Septo-optic dysplasia, Ataxia, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Bresek Syndrome	Hydrocephalus, Microcephaly	ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Absent septum pellucidum,...	OMIM:615287
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Hydrocephalus, Unsteady gait, Polyphagia, Simp...	ORPHA:96121
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly	ORPHA:60040
Mucopolysaccharidosis Type 3	Hyperactivity, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Hypersexuality,...	ORPHA:581
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Lhermitte-Duclos Disease	Neoplasm of the thyroid gland, Hydrocephalus, Polymicrogyria, Ataxia	ORPHA:65285
Thanatophoric Dysplasia Type 1	Increased nuchal translucency, Hydrocephalus, Polyhydramnios, Ventriculomegaly	ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi...	OMIM:613154
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Gonadoblastoma	Increased serum testosterone level	ORPHA:206484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus call...	OMIM:613150
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation, Lissencephaly, Secondary microcephaly	OMIM:612938
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Pseudotrisomy 13 Syndrome	Encephalocele, Adrenal hypoplasia, Microcephaly, Hydrocephalus, Holoprosencephaly, Polymicrogyria...	OMIM:264480
Sturge-Weber Syndrome	Cerebral calcification, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia, Cereb...	ORPHA:3205
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Aqueductal stenosis, Abnormal repetitive mannerisms, Partial agenesi...	OMIM:619512
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Microcephaly, Menin...	OMIM:236670
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Testicular Agenesis	Increased circulating gonadotropin level, Decreased serum testosterone concentration	ORPHA:325124
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Hydrocephalus, Abnormal bas...	ORPHA:228308
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Adrenal hypoplasia, Polyhydramnios, Focal polymicrogyria, Hydrocephalus...	OMIM:612651
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, V...	OMIM:300514
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Difficulty wal...	ORPHA:268810
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Thanatophoric Dysplasia, Type I	Hydrocephalus, Polyhydramnios, Temporal lobe dysplasia	OMIM:187600
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin...	ORPHA:769
Multiple Sulfatase Deficiency	Rapid neurologic deterioration, Hydrocephalus, Microcephaly	ORPHA:585
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Dandy-Walker...	OMIM:257300
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Partial a...	OMIM:620305
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Polyhydramnios	OMIM:219730
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cerebral atrophy, Microcephaly	OMIM:614886
Glutaric Acidemia I	Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Hydrocephalus, Abnormal basal ganglia morphology, Pachygyria, Agenesis of...	ORPHA:157
3C Syndrome	Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adrenal hypoplasia	ORPHA:7
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female...	ORPHA:90794
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:398124
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus, Polyhydramnios	ORPHA:3301
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia, Confusion, Microcephaly	ORPHA:220295
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Abnormal cortical gyration, Palpebral edema, Aggressive behavior, Unsteady gait, Dysmetri...	ORPHA:314647
Osteopetrosis, Autosomal Recessive 5	Microcephaly, Diffuse white matter abnormalities, Hydrocephalus, Cerebral atrophy, Irritability, ...	OMIM:259720
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali...	ORPHA:562
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gait d...	ORPHA:1454
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy, Oligohydramnios	ORPHA:1834
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Ascites, Periventricular leukomalacia	ORPHA:974
Lowry-Maclean Syndrome	Hydrocephalus, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2409
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Cole-Carpenter Syndrome 2	Hydrocephalus, Oligohydramnios	OMIM:616294
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Abnormal corpus callosum ...	OMIM:608091
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypoplasia of the corpus callosum, O...	OMIM:616546
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Mend Syndrome	Hyperactivity, Aggressive behavior, Hydrocephalus, Hypoplasia of the corpus callosum, Abnormal so...	ORPHA:401973
Arachnoiditis	Hydrocephalus	ORPHA:137817
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level	ORPHA:247768
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ...	ORPHA:90797
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Hydrops fetalis, Microcephaly	ORPHA:1865
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven...	ORPHA:457284
Trisomy 17P	Hydrocephalus, Microcephaly	ORPHA:261290
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly	ORPHA:87
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Polyhydramnios, Microcephaly, Megalencephaly, Hydrocephalus, Ventriculomegaly	OMIM:613603
Congenital Myopathy 22A, Classic	Waddling gait, Normal pressure hydrocephalus, Polyhydramnios	OMIM:620351
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Precocious pub...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Precocious pub...	ORPHA:363958
Hec Syndrome	Communicating hydrocephalus, Polyhydramnios	ORPHA:2119
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly	OMIM:617244
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothy...	OMIM:101800
Monosomy 18Q	Microcephaly, Diffuse white matter abnormalities, Hydrocephalus, Choreoathetosis, Hypothyroidism,...	ORPHA:1600
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Abnormality of the parathyroid gland, Thymus hyperplasia	ORPHA:2969
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu...	ORPHA:2298
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Hypoplasia of the corpus callosum, Megalencephaly	OMIM:616482
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, Hypoplasia of the corpus callosum, Cerebral atrophy	OMIM:618590
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Microcephaly, Hydrocephalus, Attention deficit hyperactivity diso...	OMIM:227646
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Polyhydramnios	OMIM:314390
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Hydrocephalus, Tongue thrusting, Aplasia/Hypoplasia of the corpus callosum, Hypop...	OMIM:115150
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Gracile Bone Dysplasia	Hydrocephalus, Ascites	OMIM:602361
Rabin-Pappas Syndrome	Hydrocephalus, Hypoplasia of the corpus callosum, Microcephaly	OMIM:620155
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Adrenal hypoplasia, Microcephaly, Polyhydramnios, Hydrocephalus, Aplasia/Hypoplasi...	ORPHA:2166
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Oligohydramnios	OMIM:613776
Iniencephaly	Encephalocele, Polyhydramnios, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal...	ORPHA:63259
Tetrasomy 5P	Pericallosal lipoma, Hydrocephalus	ORPHA:3309
Holoprosencephaly	Encephalocele, Diabetes mellitus, Microcephaly, Hydrocephalus, Panhypopituitarism, Aplasia/Hypopl...	ORPHA:2162
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Monosomy 9Q22.3	Hydrocephalus, Hyperactivity, Ventriculomegaly, Calcification of falx cerebri	ORPHA:77301
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ataxia	ORPHA:2720
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Oligohydramnios	OMIM:616914
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Microcephaly, ...	ORPHA:168577
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Attention deficit hyperactivity disorder	OMIM:305450
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Genitopalatocardiac Syndrome	Hydrocephalus, Microcephaly	ORPHA:2075
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, P...	OMIM:610828
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Inability to walk, Cerebral atrophy, Irritability, Hyperintensity of cerebral white...	ORPHA:1675
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Dubowitz Syndrome	Hypoparathyroidism, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Atten...	ORPHA:235
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Hydrocephalus, Cerebral cortical atrophy, Decreased response to gr...	OMIM:616007
Coccidioidomycosis	Abnormality of the endocrine system, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis...	ORPHA:228123
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Mirage Syndrome	Hydrocephalus, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency	OMIM:617053
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Edema, Hydrocephalus, Anencephaly, Holoprosencephaly, Ascites	OMIM:269860
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Oligohydramnios	ORPHA:3016
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, Hydrocephalus, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmo...	OMIM:261740
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, ...	ORPHA:2461
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculom...	OMIM:101200
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Achondroplasia	Hydrocephalus	ORPHA:15
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Achondroplasia	Hydrocephalus, Polyhydramnios, Megalencephaly	OMIM:100800
H Syndrome	Diabetes mellitus, Hydrocephalus, Upper eyelid edema, Hypogonadism, Delayed puberty	ORPHA:168569
Fraser Syndrome 3	Hydrocephalus, Ascites, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:617667
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Hydrops fetalis	ORPHA:268249
Lymphangioleiomyomatosis	Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Cognitive impairment, Ascites	ORPHA:538
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Short attention span, Ataxia, Confusion, Depression, Subcortical cer...	ORPHA:309282
Hurler Syndrome	Hydrocephalus, Progressive neurologic deterioration	OMIM:607014
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hydromyelia	OMIM:600145
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Short attention span, Hyperactivity, Impulsivity, Aggressive behavio...	ORPHA:580
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz...	OMIM:250790
Wiedemann-Rautenstrauch Syndrome	Hyperthyroidism, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stim...	ORPHA:3455
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Unsteady gait, Dysphagia, Memory impairment	ORPHA:637
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:243605
Marshall-Smith Syndrome	Absent septum pellucidum, Hydrocephalus, Cerebral atrophy, Macrogyria, Hypoplasia of the corpus c...	OMIM:602535
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Hydrops fetalis	OMIM:253220
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Histiocytoid Cardiomyopathy	Lethargy, Hydrocephalus, Agenesis of corpus callosum, Pulmonary edema	ORPHA:137675
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Cerebral atrophy	OMIM:616084
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Thick corpus callosum, Gait ataxia, Cerebral cortica...	OMIM:617011
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Hypothyroidism, Self-mutilation, Aggressive behavior, Polyphagia, Hydro...	OMIM:607872
Holoprosencephaly 9	Anterior pituitary hypoplasia, Abnormal cortical gyration, Decreased response to growth hormone s...	OMIM:610829
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida, Polyhydramnios	ORPHA:3412
Cardiofaciocutaneous Syndrome	Hydrocephalus, Cerebral cortical atrophy, Lymphedema	ORPHA:1340
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Precocious puberty, Aggressive behavior, P...	OMIM:270400
Gaucher Disease	Ataxia, Hydrocephalus, Hydrops fetalis, Depression, Dysphagia, Delayed puberty, Ventriculomegaly	ORPHA:355
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Adrenal hypoplasia, Microcep...	OMIM:249000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Progressive neurologic deterioration, Microcephaly, Partial agenesis ...	OMIM:210710
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Dandy-Walker m...	OMIM:605627
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Osteootohepatoenteric Syndrome	Hydrocephalus, Dehydration	OMIM:619377
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Mohr Syndrome	Hydrocephalus, Porencephalic cyst	OMIM:252100
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Nonimmune hydrops fetalis, Lymphedema	ORPHA:137667
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Truncal ataxia, Dysphagia, Hypoplasia of the thymus, Increased serum testosterone ...	OMIM:264090
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Hydrocephalus	OMIM:618162
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Polyhydramnios	OMIM:618188
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Hurler Syndrome	Hydrocephalus, Depression	ORPHA:93473
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Polyhydramnios, Microcephaly, Spina bifida, Hydrocephalus, M...	ORPHA:567
Cockayne Syndrome A	Ataxia, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Thymic hormone decreased, Ga...	OMIM:216400
Aymé-Gripp Syndrome	Pericardial effusion, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy...	ORPHA:1272
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Partial agenesis of the corpus callosum, Hydrocephalus, Spina bifida occulta, Oli...	OMIM:300373
Pseudoleprechaunism Syndrome, Patterson Type	Joint swelling, Diabetes mellitus, Premature adrenarche, Increased circulating androgen concentra...	ORPHA:2976
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus, Cerebral calcification	ORPHA:505248
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Neurofibromatosis Type 1	Ataxia, Abnormality of the endocrine system, Precocious puberty, Hydrocephalus, Pheochromocytoma,...	ORPHA:636
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Hydrocephalus, Limb ataxia, Abnormal temper tantrums, Hypoplasia of the corpus ...	ORPHA:2072
Fanconi Anemia, Complementation Group L	Hydrocephalus, Attention deficit hyperactivity disorder	OMIM:614083
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Microcephaly	OMIM:182212
Raine Syndrome	Hydrocephalus, Cerebral calcification, Microcephaly	OMIM:259775
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Meckel Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:564
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Palpebral edema, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:261337
Kabuki Syndrome	Microcephaly, Precocious puberty, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2322
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Anterior pituitary hypoplasia, Polyhydramnios...	OMIM:619841
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:147791
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida, Calcification of falx cerebri	OMIM:109400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Oligohydramnios	ORPHA:536467
Lenz-Majewski Hyperostotic Dwarfism	Hypogonadism, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Mend Syndrome	Hyperactivity, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Isotretinoin-Like Syndrome	Hydrocephalus, Microcephaly	ORPHA:2306
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Precocious puberty, Abnormal repetitive mannerisms, Hydro...	OMIM:194190
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Dextrocardia	Hydrocephalus	ORPHA:1666
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly, Microcephaly	ORPHA:2462
Tetrasomy 9P	Hyperactivity, Hydrocephalus, Inappropriate behavior, Lissencephaly, Pachygyria, Polymicrogyria, ...	ORPHA:3310
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase...	OMIM:201810
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Microcephaly	OMIM:154400
Fanconi Anemia	Spina bifida, Microcephaly, Hydrocephalus, Hypogonadism, Abnormality of the hypothalamus-pituitar...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Pachygy...	OMIM:253280
Osteogenesis Imperfecta	Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Gait disturbance, Dysphagia, Loss of ambul...	ORPHA:666
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma	OMIM:162200
Fetal Akinesia Deformation Sequence 1	Nonimmune hydrops fetalis, Absent septum pellucidum, Polyhydramnios, Increased nuchal translucenc...	OMIM:208150
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Yunis-Varon Syndrome	Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Hydrops fetalis, Hypoplasia of the ...	ORPHA:3472
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Mullerian Aplasia And Hyperandrogenism	Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst...	OMIM:158330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Microcephaly	ORPHA:163979
Cockayne Syndrome B	Ataxia, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Normal pressure hydrocephalu...	OMIM:133540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Attention deficit hyperactivity disorder, Lower limb dysmetria, Hydrocephalus, Hypoplasia of the ...	ORPHA:363700
Hajdu-Cheney Syndrome	Hydrocephalus, Delayed puberty	ORPHA:955
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Polyhydramnios	OMIM:306955
Hydrolethalus Syndrome 1	Absent septum pellucidum, Polyhydramnios, Abnormal cortical gyration, Anencephaly, Adrenal gland ...	OMIM:236680
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Polyhydramnios, Spinal dysraphism	OMIM:114290
Williams Syndrome	Ataxia, Hypogonadotropic hypogonadism, Microcephaly, Periorbital edema, Precocious puberty, Incre...	ORPHA:904
Pseudoaminopterin Syndrome	Fatigable weakness, Hydrocephalus	ORPHA:221120
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Hydrocephalus, Abnorma...	OMIM:219000
Costello Syndrome	Cerebral atrophy, Ventriculomegaly, Hydrocephalus, Polyhydramnios	OMIM:218040
Peters Plus Syndrome	Polyhydramnios, Microcephaly, Hydrocephalus, Congenital hypothyroidism, Aplasia/Hypoplasia of the...	ORPHA:709
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocephalus, Hydrom...	ORPHA:573278
Fontaine Progeroid Syndrome	Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Oligohydramnios	OMIM:612289
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hypogonadism, Hydrocephalus, Gait disturbance	ORPHA:3042
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Leukoencephalopathy, Ische...	OMIM:175780
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Hypoplasia of the ovary, Microcephaly	OMIM:619321
Baller-Gerold Syndrome	Spina bifida occulta, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum	OMIM:218600
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Polyhydramnios, Edema, Aqueductal stenosis, Hydrocephalus, Frontot...	OMIM:619534
Coffin-Siris Syndrome 12	Microcephaly, Abnormal repetitive mannerisms, Noncommunicating hydrocephalus, Hippocampal atrophy...	OMIM:619325
Kabuki Syndrome 1	Premature thelarche, Microcephaly, Hydrocephalus, Congenital hypothyroidism, Lateral ventricle di...	OMIM:147920
Peters-Plus Syndrome	Polyhydramnios, Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum, Ventr...	OMIM:261540
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hydrocephalus	OMIM:273395
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Agenesis of corpus callosum, Pancreatic islet-cell hyperplasia, Polyhydramnios	OMIM:312870
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Townes-Brocks Syndrome 1	Hydrocephalus, Hypothyroidism, Holoprosencephaly, Microcephaly	OMIM:107480
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Polyhydramnios, Microcephaly	OMIM:268300
Alström Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Precocious puberty in females, Hyp...	ORPHA:64
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Srgap3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Srgap3.

No publications found that use IMPC mice or data for Srgap3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Srgap3^{tm43203(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Srgap3^{tm43203(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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