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:
Arhgap14,  D130026O08Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Pineocytoma
Episodic ataxia, Difficulty walking, Increased CSF protein, Cognitive impairment, Memory impairme... ORPHA:251912
Atypical Teratoid Rhabdoid Tumor
Apathy, Ataxia, Irritability, Cerebral calcification, Hydrocephalus ORPHA:99966
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, ... OMIM:618709
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Difficulty walking, Toe walking, Ataxia, Emotional lability, Cerebral cortical atrophy,... OMIM:609195
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Irritability, Hyperactivi... OMIM:616657
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Male hypogonadism, Increased circulating gonadotropin level, Hyperg... ORPHA:163976
Glioblastoma
Abnormal cerebral white matter morphology, Emotional lability, Abnormal corpus callosum morpholog... ORPHA:360
Pituicytoma
Abnormality of the pituitary gland, Memory impairment, Pituicytoma, Pituitary hypothyroidism, Hyp... ORPHA:251623
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Papilloma Of Choroid Plexus
Cognitive impairment, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Lethargy, Ataxia, Irritability, Cerebral edema OMIM:311250
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Gait disturbance, Cerebral cortical atrophy, Decreased serum testosterone concentration... ORPHA:101006
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Abnormal cerebral white matter morphology, Cerebral atrophy, Ataxia, Irritabi... OMIM:618321
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mo... ORPHA:439218
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Emotional lability, Decreased serum testosterone concentration, Irritability, H... OMIM:201100
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema, Lethargy, Irritability, Ataxia OMIM:237300
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Hyperactivity, Microcephaly, Simplif... OMIM:613402
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Aggressive beh... ORPHA:83597
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Ventriculomegaly, Abnormal cerebral ... ORPHA:261534
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal corpus callosum morp... OMIM:604317
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Increased CSF lactate, Cerebral edema, Ataxia OMIM:617186
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Gait disturbance, Normal pressure hydrocephalus OMIM:611808
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Gait disturbance, Increased CSF protein, Abnormal putamen mor... ORPHA:88619
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment, Cerebral edema, De... ORPHA:247585
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus, Poor eye contact OMIM:300884
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Ventriculomegaly, Abnormal cerebral ... ORPHA:99330
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Increased circulating gonadotropin level, Shyness, Hypergonadotropic hypogonad... ORPHA:163971
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ventriculomegaly, Abnormal cerebral white matter morphology, Ata... ORPHA:248111
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Japanese Encephalitis
Abnormality of thalamus morphology, Dystonia, Focal T2 hyperintense thalamic lesion, Abnormality ... ORPHA:79139
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum, Shuffling gait OMIM:303350
Fried Syndrome
Cerebral calcification, Gait disturbance, Aggressive behavior, Hydrocephalus ORPHA:85335
Ane Syndrome
Abnormal response to ACTH stimulation test, Hypogonadotropic hypogonadism, Adrenocorticotropin de... ORPHA:157954
Maple Syrup Urine Disease
Lethargy, Cerebral edema, Ataxia OMIM:248600
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Increased CSF protein, Cerebral edema OMIM:608033
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal CSF biopterin level, Gait dis... ORPHA:255
Pontocerebellar Hypoplasia, Type 15
Delayed social development, Dystonia, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus... OMIM:619302
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Papillary Tumor Of The Pineal Region
Episodic ataxia, Difficulty walking, Increased CSF protein, Cognitive impairment, Memory impairme... ORPHA:251915
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Herpes Simplex Virus Encephalitis
Hypoglycorrhachia, Increased CSF protein, Cerebral edema, CSF lymphocytic pleiocytosis ORPHA:1930
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Cerebral edema OMIM:201450
Amoebiasis Due To Free-Living Amoebae
Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, CSF lympho... ORPHA:68
Angiostrongyliasis
Ventriculomegaly, Cerebral edema, Irritability, CSF pleocytosis ORPHA:74
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Self-injurious behavior, Abnormality of the basal ganglia, Cerebra... OMIM:304340
Familial Or Sporadic Hemiplegic Migraine
Progressive gait ataxia, CSF lymphocytic pleiocytosis, Increased CSF protein, CSF pleocytosis, Ce... ORPHA:569
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Increased CSF lactate, Poor eye contact, Ataxia, Leukoencephalopathy, Microcephaly, Cer... OMIM:252010
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Hydrocephalus ORPHA:1008
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Memory impairment, Hydroc... ORPHA:2495
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema OMIM:614212
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Citrullinemia, Classic
Cerebral edema, Lethargy, Irritability, Ataxia OMIM:215700
Gómez-López-Hernández Syndrome
Cognitive impairment, Hydrocephalus, Ataxia ORPHA:1532
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Increased circulating gonadotropin level OMIM:300869
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Decreased serum testos... ORPHA:168563
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker... OMIM:617967
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Hydranencephaly, Microce... OMIM:225790
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Insulin-resistant diabetes me... ORPHA:2959
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Joint swelling, Apathy, Hypothyroidism, Decreased serum testosterone concentration, Tes... ORPHA:465508
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ventriculomegaly, Cerebral edema OMIM:619355
Rasmussen Subacute Encephalitis
Inability to walk, Memory impairment, Ventriculomegaly, Emotional lability, Subcortical cerebral ... ORPHA:1929
Cryptococcosis
Pleural effusion, Cerebral cortical atrophy, Memory impairment, Cerebral edema, Mental deteriorat... ORPHA:1546
Nasu-Hakola Disease
Ventriculomegaly, Cerebral cortical atrophy, Irritability, Cerebral calcification, Memory impairm... ORPHA:2770
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema OMIM:603471
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Female hypogonadism, Delayed puberty, Decreased serum testos... ORPHA:52901
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Hyp... ORPHA:457260
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Anxiety, Attention deficit hyperactivity disorder ORPHA:261102
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Absence of... OMIM:273250
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcificatio... OMIM:610333
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Hsd10 Disease
Abnormal social behavior, Ventriculomegaly, Gait disturbance, Ataxia, Frontotemporal cerebral atr... ORPHA:391417
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Argininosuccinic Aciduria
Cerebral edema, Lethargy, Irritability, Ataxia OMIM:207900
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased circulating gonadotropin concentration, Delayed puberty, Decreased serum testosterone c... OMIM:614841
1Q21.1 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250994
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Acyl-Coa Dehydrogenase 9 Deficiency
Fatigable weakness, Cerebral edema ORPHA:99901
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Emotional lability, Unsteady gait, Cessation of head growth, Leukoenc... OMIM:603896
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pachygyria, Cognitive impairment, Cerebral edema, Lissencephaly ORPHA:258
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema OMIM:611126
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Delay... OMIM:305400
Ethylene Glycol Poisoning
Cerebral edema, Euphoria, Pulmonary edema, Ataxia ORPHA:31826
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Hyperactivity, Hydrocepha... ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Leukoencephalopathy ORPHA:284388
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Steinert Myotonic Dystrophy
Polyhydramnios, Male hypogonadism, Emotional lability, Cerebral cortical atrophy, Falls, Mild fet... ORPHA:273
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum,... ORPHA:500180
Congenital Toxoplasmosis
Ventriculomegaly, Ascites, Cerebral calcification, Cognitive impairment, Microcephaly, Hydrocephalus ORPHA:858
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ventriculomegaly, ... OMIM:618476
Biemond Syndrome Ii
Hydrocephalus, Abnormality of the endocrine system OMIM:210350
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Dementia, Normal pressure hydrocephalus OMIM:236690
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Megalencephaly, Unsteady gait, Testicular atrophy, Cerebral edema ORPHA:3063
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Fem... ORPHA:432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, A... OMIM:613153
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Dystonia, Abnormal caudate nucleus morphology, Dementia, Pallidal degeneration, V... ORPHA:25
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology ORPHA:352682
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Dystonia, Type II lissencephaly, Emotional lability, Torticollis, Spa... ORPHA:300570
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Anxiety, Hydrocephalus, At... OMIM:609757
Achondroplasia
Megalencephaly, Hydrocephalus OMIM:100800
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Decreased serum testosterone concentration, Decreased circulating luteini... OMIM:228300
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturba... ORPHA:272
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Difficulty walking, Ventriculomegaly, Ataxia, Emotional lability, Aq... ORPHA:1136
Leydig Cell Hypoplasia
Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Abse... ORPHA:755
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:602501
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Isosexual precoc... ORPHA:759
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscle-Eye-Brain Disease
Holoprosencephaly, Gait disturbance, Meningocele, Cognitive impairment, Hydrocephalus ORPHA:588
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Leukoencephalopathy, Cognitive impairment, Hydrocephalus OMIM:615181
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated circu... ORPHA:3044
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Impaired social interactions, Aggressive behavior, Ataxia, Co... OMIM:610042
Functioning Gonadotropic Adenoma
Panhypopituitarism, Increased circulating gonadotropin level, Hydrocephalus, Anterior hypopituita... ORPHA:91348
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypogonadism ORPHA:141333
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Melanosis, Neurocutaneous
Dandy-Walker malformation, Mental deterioration, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... OMIM:615287
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Krabbe Disease
Increased CSF protein, Motor deterioration, Diffuse cerebral atrophy, Hydrocephalus OMIM:245200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Aggressive behavior, Decreased serum testosterone concentration, Microcephaly, Attention deficit ... ORPHA:495875
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:101039
Thanatophoric Dysplasia Type 2
Polyhydramnios, Holoprosencephaly, Ventriculomegaly, Increased nuchal translucency, Cognitive imp... ORPHA:93274
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Poor eye contact, Anxiety, Attention... ORPHA:444002
Mental Retardation, Autosomal Dominant 36
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:616362
Mental Retardation, Buenos Aires Type
Microcephaly, Spastic gait, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:249630
16P13.2 Microdeletion Syndrome
Skin-picking, Aggressive behavior, Cerebral white matter atrophy, Hypoplasia of the corpus callos... ORPHA:500055
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Small pituitary gland, ... ORPHA:2232
Acute Liver Failure
Ataxia, Emotional lability, Adrenal insufficiency, Euphoria, Cerebral edema ORPHA:90062
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:1516
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Diencephalic Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Hyperactivity OMIM:300960
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Noncommunicating hydrocephalus, Dysgenesis of the hippocampus, Ataxia, Agene... OMIM:619320
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Ventriculomegaly, Gait disturbance, A... ORPHA:395
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Woodhouse-Sakati Syndrome
Dystonia, Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevated ... OMIM:241080
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Ataxia, Rap... OMIM:272200
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Tenorio Syndrome
Cavum septum pellucidum, Ventriculomegaly, Gait disturbance, Hypoinsulinemia, Cerebral cortical a... OMIM:616260
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... ORPHA:90796
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Dementia, Abnormal social behavior, Ataxia, Cerebral cortical atrophy, S... ORPHA:1020
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Ataxia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Infantile Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Hydrocephalus, Cerebral atrophy OMIM:269920
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Hypothyroidism, Self-injurious behavi... ORPHA:449291
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Anxiety, Dandy-Walker malformation, Hydrocephalus, Attention deficit... ORPHA:459061
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Abnormal cerebral cortex morphology ORPHA:163961
Temple Syndrome
Maturity-onset diabetes of the young, Hydrocephalus OMIM:616222
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220219
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Optic Pathway Glioma
Fatigable weakness, Precocious puberty, Hydrocephalus ORPHA:2086
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:218350
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Medulloblastoma
Lethargy, Ataxia, Progressive cerebellar ataxia, Irritability, Cerebellar ataxia associated with ... ORPHA:616
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Temple Syndrome
Precocious puberty, Hydrocephalus, Type II diabetes mellitus, Decreased response to growth hormon... ORPHA:254516
Joubert Syndrome 14
Dandy-Walker malformation, Irritability, Hydrocephalus, Ataxia OMIM:614424
L1 Syndrome
Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hypothyroidism, Increased CSF lactate, Hypopituitarism, Hyp... ORPHA:90065
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Ventricul... ORPHA:370959
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Ventriculomegaly, Hydrocephalus ORPHA:2655
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Coach Syndrome 2
Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus ORPHA:2181
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Hydrocephalus, Dementia ORPHA:1946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Agyria, Microcephaly, Progressive microcephal... OMIM:615249
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Increased circulating gonadotropin level, Hypergo... ORPHA:251510
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism OMIM:241800
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abnormal social... ORPHA:309263
Cerebral Visual Impairment
Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Focal cortical dysplasia... ORPHA:447788
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Oligohydramnios ORPHA:163596
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Diffi... ORPHA:309271
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Joubert Syndrome With Renal Defect
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Ataxia, Polymicr... ORPHA:220497
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
Ovarian Fibrothecoma
Pleural effusion, Abnormal circulating hormone concentration, Ascites, Increased serum testostero... ORPHA:314478
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Cerebral atrophy, Hydrocephalus ORPHA:171839
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Polymicrogyria, Thick corpus callo... OMIM:603387
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Ab... ORPHA:309256
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... ORPHA:85327
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Hypomagnesemia, Seizures, And Mental Retardation 2
Ventriculomegaly, Self-biting, Hyperactivity OMIM:618314
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr... ORPHA:899
Methylcobalamin Deficiency Type Cble
Lethargy, Ventriculomegaly, Abnormal cerebral white matter morphology, Microcephaly, Hydrocephalus ORPHA:2169
Lamb-Shaffer Syndrome
Microcephaly, Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:289548
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrolethalus
Polyhydramnios, Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Anencepha... ORPHA:2189
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:168558
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Alexander Disease
Agenesis of corpus callosum, Hypothyroidism, Gait disturbance, Self-injurious behavior, Megalence... ORPHA:58
Peho Syndrome
Porencephalic cyst, Palpebral edema, Peripheral edema, Ventriculomegaly, Pedal edema, Cerebral co... ORPHA:2836
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Pleural effusion, Peripheral edema, Pulmonary edema, As... ORPHA:64739
Griscelli Syndrome
Ascites, Hydrocephalus, Ataxia, Pedal edema ORPHA:381
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the hypothalamus-pituitary axis, Gait d... ORPHA:475
Joubert Syndrome With Ocular Defect
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Ataxia, Polymicr... ORPHA:220493
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Hydrocephalus, Hypothyroidism, Ventriculomegaly, Gait disturbance, Agenesis of co... ORPHA:1812
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus ORPHA:398189
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Cerebral atrophy, Lewy bodies... OMIM:610217
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Ventriculomegaly, Increased nuchal ... ORPHA:261344
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal circulating follicle-stimulating hormone... ORPHA:99429
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnormal co... OMIM:614576
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Hydrocephalus, Dandy-Walker malformation, Decreased response to growth hormon... OMIM:220210
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus, Cerebral calcification ORPHA:377
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Emanuel Syndrome
Agenesis of corpus callosum, Oligohydramnios, Ventriculomegaly, Cerebral atrophy, Abnormal cerebr... ORPHA:96170
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior, Ventriculomegaly, Small pitu... ORPHA:93932
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Ataxia, Septo-optic dysplasia, Hydrocephalus ORPHA:59315
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Polyhydramnios, Communicating hydrocephalus OMIM:600559
45,X/46,Xy Mixed Gonadal Dysgenesis
Increased circulating gonadotropin level, Hypothyroidism, Streak ovary, Delayed puberty, Decrease... ORPHA:1772
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Polyembryoma
Increased serum testosterone level, Increased serum serotonin, Isosexual precocious puberty, Abno... ORPHA:180229
Semilobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Diabetes insipidus,... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Diabetes insipidus,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Diabetes insipidus,... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Diabetes insipidus,... ORPHA:93924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicro... OMIM:614643
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cerebral calcificati... OMIM:616538
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Pericardial effusion, Edema, Hydroce... OMIM:617822
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
Congenital Sialidosis Type 2
Ataxia, Edema, Ascites, Dysmetria, Hydrocephalus ORPHA:93400
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Palpebral edema, Hypoplastic hippocampus, Abnormal social behavior, Ataxia, ... ORPHA:314647
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Ataxia, Abnormality of the hypothalamus... ORPHA:2318
Robinow Syndrome
Decreased serum testosterone concentration ORPHA:97360
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Hydrops fetalis, Aggressive behav... ORPHA:646
Lhermitte-Duclos Disease
Polymicrogyria, Neoplasm of the thyroid gland, Hydrocephalus, Ataxia ORPHA:65285
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Dandy... ORPHA:1647
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Memory impairment, Lethargy, Hydrops fetalis, Dementia, Cerebral atrophy, Ataxia, Dehydration, Le... ORPHA:79282
7Q11.23 Microduplication Syndrome
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Ventriculomegaly, Uns... ORPHA:96121
Testicular Agenesis
Decreased serum testosterone concentration, Increased circulating gonadotropin level ORPHA:325124
Thanatophoric Dysplasia, Type I
Polyhydramnios, Hydrocephalus OMIM:187600
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Hydrocephalus, Dandy-W... OMIM:611134
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Hydrocephalus OMIM:310400
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr... ORPHA:35107
Triploidy
Polyhydramnios, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Meningocele, Hydroc... ORPHA:3376
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Aggressive behavior, Pheochromocytoma, Abnor... ORPHA:805
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Type II diabetes mellitus, Hypogonadism, Attenti... ORPHA:96263
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cortical dysp... OMIM:613001
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus ORPHA:60040
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spinal dysraphism, Hydrocephalus ORPHA:1926
Bresek Syndrome
Microcephaly, Hydrocephalus ORPHA:85284
Joubert Syndrome 2
Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Hydrocephalus, Ataxia OMIM:608091
Nephronophthisis 18
Hydrocephalus OMIM:615862
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hypoplasia of the corpus callosum, Megalencephaly, Hydrocephalus OMIM:616482
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Mend Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior, Hyperactivity, ... ORPHA:401973
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Dementia, Cerebral cortical atrophy, Microcephaly, Hydrocephalus OMIM:277400
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Hydrocephalus, Ataxia ORPHA:2720
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Hypopituita... ORPHA:54595
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Ventriculomegaly, Hydrocephalus ORPHA:1860
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Crouzon Disease
Hydrocephalus ORPHA:207
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Cerebral cortical atrophy, Progressive inability ... ORPHA:2388
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Polymicrogyria... OMIM:253800
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Oligohydramnios, Abnormal social behavior, Dilation o... ORPHA:177907
Pycnodysostosis
Cognitive impairment, Hydrocephalus ORPHA:763
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:614886
Whipple Disease
Hypothyroidism, Pedal edema, Hydrocephalus, Ataxia ORPHA:3452
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventriculomegaly, Hydrocephalus OMIM:219730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Intracerebral periventricular calcific... ORPHA:228308
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperactivity, Agenesis of co... ORPHA:457284
3C Syndrome
Ventriculomegaly, Adrenal hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder ORPHA:64280
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Waddling gait, Hydrocephalus ORPHA:2839
Multiple Sulfatase Deficiency
Microcephaly, Hydrocephalus, Rapid neurologic deterioration ORPHA:585
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased circulating androgen concentration, Insulin-resistant diabetes mellitus... ORPHA:769
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, Adrenal hypoplasia, Holoprosencephaly, Polymicrogyria, Microcephaly,... OMIM:264480
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Fatigable weakness of swallowing muscles, Aggressive behavi... ORPHA:581
Osteopetrosis, Autosomal Recessive 5
Microcephaly, Ascites, Hydrocephalus, Cerebral atrophy OMIM:259720
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypogonadism... OMIM:300514
1Q21.1 Microdeletion Syndrome
Agenesis of corpus callosum, Anxiety, Microcephaly, Hydrocephalus, Attention deficit hyperactivit... ORPHA:250989
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Neonatal Lupus Erythematosus
Abnormal cerebral white matter morphology, Hydrocephalus, Basal ganglia calcification ORPHA:398124
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Agenesis of corpus callosum, Abnormality of the basal ganglia, Polymicrogyria, Cerebr... ORPHA:157
Hemangioblastoma
Hydrocephalus ORPHA:252054
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Sturge-Weber Syndrome
Cerebral cortical atrophy, Hydrocephalus, Attention deficit hyperactivity disorder, Cerebral calc... ORPHA:3205
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal circulating estrogen level, Increased se... ORPHA:90797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, H... OMIM:613150
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Ataxia, Intracerebral periventricular calcifications, Decreased... ORPHA:168577
Hyperphosphatasia With Mental Retardation Syndrome 1
Cerebral cortical atrophy, Athetosis, Hydrocephalus OMIM:239300
Cole-Carpenter Syndrome 2
Hydrocephalus, Oligohydramnios OMIM:616294
Endocrine-Cerebroosteodysplasia
Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Ventriculomegal... OMIM:612651
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Hydrocephalus, Oligohydramnios ORPHA:1834
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hydrocephalus, Anterior ... ORPHA:91350
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Muenke Syndrome
Hydrocephalus ORPHA:53271
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus ORPHA:2409
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Ventriculomegaly, Megalencephaly, Cerebral cortical atrophy, Thick corpus callosum, ... OMIM:617011
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Spina bifida, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, V... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Spina bifida, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, V... ORPHA:363958
Popov-Chang syndrome
Self-injurious behavior, Hydrocephalus OMIM:618428
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul... OMIM:101800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum... OMIM:236670
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level ORPHA:247768
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Holoprosencephaly
Panhypopituitarism, Dystonia, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism... ORPHA:2162
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Oligohydramnios, Ventriculomeg... OMIM:257300
Adams-Oliver Syndrome
Periventricular leukomalacia, Ascites, Hydrocephalus, Porencephalic cyst ORPHA:974
Arachnoiditis
Hydrocephalus ORPHA:137817
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:123790
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Agenesis of corpus callosum, Fusion of the left ... OMIM:610828
Monosomy 9Q22.3
Calcification of falx cerebri, Ventriculomegaly, Hydrocephalus, Hyperactivity ORPHA:77301
Posterior Meningocele
Difficulty walking, Occipital meningocele, Meningocele, Neural tube defect, Hydromyelia, Lipomyel... ORPHA:268810
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Megalencephaly, Abnormal... OMIM:101200
Apert Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:87
Chromosome 6Pter-P24 Deletion Syndrome
Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Hypergonadotropic hypogonadism, Hypoplasia of the corpus callosum, M... OMIM:227646
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Abnormality of circulating leptin level, Insulin... ORPHA:2298
Hec Syndrome
Polyhydramnios, Communicating hydrocephalus ORPHA:2119
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Desmosterolosis
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial... OMIM:602398
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hypoplasia of the corpus callosum, Cerebral atrophy, Hydrocephalus OMIM:618590
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Diffuse white matter abnormalities, Impaired social interactions, Gait ataxia, Difficulty walking... ORPHA:457359
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Polymicrogyria, Hydrocephalus OMIM:616546
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Microcephaly, Hydrocephalus, Ataxia ORPHA:220295
Genitopalatocardiac Syndrome
Microcephaly, Hydrocephalus ORPHA:2075
Iniencephaly
Polyhydramnios, Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Lissencephaly, M... ORPHA:63259
Dyssegmental Dysplasia, Silverman-Handmaker Type
Microcephaly, Hydrops fetalis, Hydrocephalus ORPHA:1865
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Hydrocephalus OMIM:253220
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Opitz-Kaveggia Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Partial agenesis of the corpus callosum OMIM:305450
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Abnormal cortical gyrati... OMIM:311200
Trisomy 17P
Microcephaly, Hydrocephalus ORPHA:261290
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation, Increased ... OMIM:264090
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Oligohydramnios, Asymmetric ventricles OMIM:616914
Coccidioidomycosis
Exudative pleural effusion, CSF lymphocytic pleiocytosis, Pleural empyema, Increased CSF protein,... ORPHA:228123
Hurler Syndrome
Progressive neurologic deterioration, Hydrocephalus OMIM:607014
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Cerebral atrophy, Hyperintensity of cerebral white m... ORPHA:1675
Marden-Walker Syndrome
Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Attention def... ORPHA:2461
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Dubowitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Spina bifida occulta, Microcephaly, Hypoparathyroidism... ORPHA:235
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Communicating hydrocephalus, Ataxia OMIM:616084
H Syndrome
Delayed puberty, Upper eyelid edema, Hypogonadism, Diabetes mellitus, Hydrocephalus ORPHA:168569
Holoprosencephaly 9
Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased response to growth ... OMIM:610829
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Lymphangioleiomyomatosis
Lymphedema, Ascites, Chylothorax, Cognitive impairment, Hydrocephalus, Chylopericardium ORPHA:538
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hypoplasia ... OMIM:115150
Smith-Lemli-Opitz Syndrome
Self-mutilation, Aggressive behavior, Holoprosencephaly, Hypoplasia of the corpus callosum, Hyper... OMIM:270400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the... ORPHA:2166
Gracile Bone Dysplasia
Ascites, Hydrocephalus OMIM:602361
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Tetrasomy 5P
Lipoma of corpus callosum, Hydrocephalus ORPHA:3309
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Agenesis of corpus callosum, Hydrocephalus ORPHA:268249
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the hypothalamus-pituitary axis, Gait d... ORPHA:1454
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:3412
Histiocytoid Cardiomyopathy
Pulmonary edema, Lethargy, Agenesis of corpus callosum, Hydrocephalus ORPHA:137675
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus, Joint swel... ORPHA:2976
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Increased circulating... ORPHA:90790
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Campomelic Dysplasia
Polyhydramnios, Hydrocephalus OMIM:114290
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal insufficiency, Hydrocephalus OMIM:617053
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Cockayne Syndrome A
Dementia, Normal pressure hydrocephalus, Thymic hormone decreased, Gait disturbance, Cerebral atr... OMIM:216400
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
15Q Overgrowth Syndrome
Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:2378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hydrocephalus, Cerebral calcification ORPHA:505248
Monosomy 18Q
Diffuse white matter abnormalities, Hydrocephalus, Hypothyroidism, Microcephaly, Secondary growth... ORPHA:1600
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Holoprosencephaly, Anencephaly, Edema, Ascites, Hydrocephalus OMIM:269860
Achondroplasia
Hydrocephalus ORPHA:15
Familial Glucocorticoid Deficiency
Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroepiandroster... ORPHA:361
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Oligohydramnios, Spina bifida occulta, Hydrocephalus, Partial agenesis of the cor... OMIM:300373
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Aymé-Gripp Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Pericardial effusion, Cerebral cortical atro... ORPHA:1272
Mohr Syndrome
Porencephalic cyst, Hydrocephalus OMIM:252100
Raine Syndrome
Microcephaly, Hydrocephalus, Cerebral calcification OMIM:259775
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Agenesis of corpus callosum, Increased serum testosterone level, Increased serum ... ORPHA:3455
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Nonimmune hydrops fetalis, Hydrocephalus, Chylothorax ORPHA:137667
Neurofibromatosis Type 1
Hydrocephalus, Pheochromocytoma, Ataxia, Delayed puberty, Memory impairment, Precocious puberty, ... ORPHA:636
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Adrenal hypoplasia, Oligohydramnios, Anencephaly, Olfactory lobe age... OMIM:249000
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
22Q11.2 Deletion Syndrome
Polyhydramnios, Spina bifida, Arrhinencephaly, Hypothyroidism, Hyperthyroidism, Meningocele, Hypo... ORPHA:567
Thakker-Donnai Syndrome
Agenesis of corpus callosum, Communicating hydrocephalus ORPHA:1780
Stromme Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:243605
Cardiofaciocutaneous Syndrome
Lymphedema, Cerebral cortical atrophy, Hydrocephalus ORPHA:1340
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity, Cognitive impairment, M... ORPHA:580
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Neurofibromatosis Type 2
Memory impairment, Unsteady gait, Hydrocephalus ORPHA:637
Acrofacial Dysostosis 1, Nager Type
Microcephaly, Polymicrogyria, Hydrocephalus, Aqueductal stenosis OMIM:154400
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Distal 22Q11.2 Microduplication Syndrome
Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Palpebral edema ORPHA:261337
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Mucopolysaccharidosis, Type Vi
Hydrocephalus OMIM:253200
Alpha-Mannosidosis, Infantile Form
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Anxiety, Communicating hydroceph... ORPHA:309282
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Ventriculomegaly, Hypoplasia of the corpus callosum, Delayed puberty, Hydrocephalus,... ORPHA:2072
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Hydrocephalus, Oligohydramnios ORPHA:536467
Gaucher Disease
Hydrops fetalis, Ventriculomegaly, Ataxia, Delayed puberty, Hydrocephalus ORPHA:355
Shprintzen-Goldberg Craniosynostosis Syndrome
Microcephaly, Hydrocephalus OMIM:182212
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Jacobsen Syndrome
Holoprosencephaly, Microcephaly, Hydrocephalus OMIM:147791
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Anencephaly, Lobar holoprosencephaly,... ORPHA:564
Trisomy 8P
Microcephaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus OMIM:605627
Kabuki Syndrome
Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Precocious puberty, Hydrocephalus ORPHA:2322
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus, Calcification of falx cerebri OMIM:109400
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Lenz-Majewski Hyperostotic Dwarfism
Hypogonadism, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:2658
Isotretinoin-Like Syndrome
Microcephaly, Hydrocephalus ORPHA:2306
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus ORPHA:90652
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, P... OMIM:253280
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Chromosome 1P36 Deletion Syndrome
Self-mutilation, Impaired social interactions, Pachygyria, Aggressive behavior, Agenesis of corpu... OMIM:607872
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Dextrocardia
Hydrocephalus ORPHA:1666
Fanconi Anemia
Spina bifida, Oligohydramnios, Abnormality of the hypothalamus-pituitary axis, Ventriculomegaly, ... ORPHA:84
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Hydrolethalus Syndrome 1
Polyhydramnios, Agenesis of corpus callosum, Absent septum pellucidum, Adrenal gland dysgenesis, ... OMIM:236680
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Hemifacial Microsomia
Agenesis of corpus callosum, Hydrocephalus OMIM:164210
Shprintzen-Goldberg Syndrome
Microcephaly, Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Cockayne Syndrome B
Normal pressure hydrocephalus, Cerebral atrophy, Ataxia, Subcortical white matter calcifications,... OMIM:133540
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Pachygyria, Agenesis of corpus callosum, Arrhinencephaly, Increa... ORPHA:3472
Hurler Syndrome
Hydrocephalus ORPHA:93473
Osteogenesis Imperfecta
Gait disturbance, Loss of ability to walk, Ventriculomegaly, Ataxia, Hydrocephalus, Noncommunicat... ORPHA:666
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Porencephalic cyst, Cortical dysplasia, Focal cortical dysplasia, Leukoencephalopathy, Limb dysto... OMIM:175780
Neurofibromatosis, Type I