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Gene: E2f5 MGI:105091

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
E2F transcription factor 5
Synonyms:
E2F-5

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 E2f5 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 E2f5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... ORPHA:363654
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom... OMIM:600348
Dural Sinus Malformation
Somatic sensory dysfunction, Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, ... ORPHA:97339
Abetal34V Amyloidosis
Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ... ORPHA:324703
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurre... ORPHA:36382
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural ... ORPHA:25
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Apraxia, Spasticity OMIM:615889
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Polyhydramnios OMIM:600559
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dilated... OMIM:619725
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking ORPHA:306669
Brain Small Vessel Disease 2
Intracranial hemorrhage, Hemiplegia, Spastic tetraplegia, Ventriculomegaly OMIM:614483
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Lat... OMIM:609637
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Partial agenesis of the corpus callosum, Spastic paraplegia, Lateral ventricle di... OMIM:617296
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Gait disturbance, Stroke, Myoclonus ORPHA:324708
Unilateral Hemispheric Polymicrogyria
Hemiparesis, Lateral ventricle dilatation ORPHA:101071
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia ORPHA:2807
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Polyhydramnios ORPHA:2119
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Polyhydramnios OMIM:618266
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis OMIM:603285
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Dilation of Virchow-Robin spaces, Sparse eyelashes, Sparse scalp hair, ... ORPHA:544488
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Br... OMIM:617397
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Spasticity, Partial agenesis of t... OMIM:619517
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosis, Intracranial hem... ORPHA:136
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Stroke, Gait disturbance, Spasticity ORPHA:542310
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Low anterior hairline, Lateral ventricle dilatation, Woolly... OMIM:619244
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hand tremor, Limb ataxia, Lateral ventricle dilatation, Tongue fasciculations, Fasciculat... OMIM:607596
Lissencephaly 4
Hypertonia, Colpocephaly, Babinski sign, Agenesis of corpus callosum OMIM:614019
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Ventriculomegaly OMIM:618709
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation, Poor fine motor coordination OMIM:618330
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Martsolf Syndrome 2
Lateral ventricle dilatation, Spastic diplegia OMIM:619420
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Ventriculomegaly OMIM:616430
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios, Ventriculomegaly OMIM:613603
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Sneddon Syndrome
Cerebral hemorrhage, Tremor, Hypertension, Stroke, Ischemic stroke, Impaired distal tactile sensa... OMIM:182410
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Pontocerebellar Hypoplasia, Type 13
Edema, Inability to walk, Gait ataxia, Low posterior hairline, Lateral ventricle dilatation, Long... OMIM:618606
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypertonia, Spasticity OMIM:618890
Cach Syndrome
T2 hypointense thalamus, Spastic diplegia, Limb ataxia, Dysmetria, Hemiparesis, Lateral ventricle... ORPHA:135
Masa Syndrome
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Agenesis of... OMIM:303350
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal flui... OMIM:618291
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventr... OMIM:256850
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Ataxia, Parkinsonism, Paralysis, CSF pleocytosis,... ORPHA:140989
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... ORPHA:280679
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... ORPHA:401815
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Lateral ventricle dilatation, Gait disturbance, Myoclonus, Apraxia, Spasticity OMIM:221770
Alg13-Cdg
Abnormal lateral ventricle morphology, Clumsiness ORPHA:324422
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Spastic tetraparesis OMIM:617668
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Spasticity ORPHA:77299
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Adams-Oliver Syndrome 2
Alopecia, Hydrocephalus, Low anterior hairline, Oligohydramnios, Lateral ventricle dilatation, Li... OMIM:614219
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Ataxia, Predominantly lower limb lymphedema, Abnormal cerebrospinal fluid morphol... ORPHA:314404
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera... ORPHA:79243
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers... ORPHA:1008
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Polymicrogyria Due To Tubb2B Mutation
Hemiparesis, Lateral ventricle dilatation, Oromotor apraxia, Agenesis of corpus callosum ORPHA:300573
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Cerebral palsy, Epistaxis, Abnormal cerebral vascular morpholog... ORPHA:53719
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy, Brittle hair, Ataxia OMIM:616084
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Polyhydramnios, Patent ductus arteriosus, Stroke, Ventriculomegaly OMIM:618188
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Ataxia, Highly arched eyebrow, Lateral ventricle dilatation, Oc... OMIM:608629
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Low anterior hairline, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus cal... OMIM:618736
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Lateral ventricle dilatation, Involuntary movements OMIM:615716
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Sparse eyebrow, Inability to walk, Lateral ventricle dilatation, Left superior... ORPHA:464738
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Hemiparesis ORPHA:398189
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Edema, Cardiogenic s... ORPHA:449285
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hypertonia, Myoclonus, Spastic tetraparesis ORPHA:284417
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Polyhydramnios, Babinski sign, Spastic tetraplegia, Opisthotonus, Lateral... OMIM:619847
Bilateral Generalized Polymicrogyria
Spastic tetraplegia, Eyelid myoclonus, Lateral ventricle dilatation, Spasticity, Paroxysmal dyski... ORPHA:208447
Proteus-Like Syndrome
Communicating hydrocephalus, Venous insufficiency, Hydrocephalus ORPHA:2969
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... OMIM:300845
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Decreased thalamic volume, Hypertonia, H... ORPHA:168577
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t... ORPHA:1780
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ankle clonus, Lateral ventricle dilatation, Lower limb... OMIM:619995
Craniosynostosis 6
Low anterior hairline, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus cal... OMIM:616602
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Low posterior hairline ORPHA:420179
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Increased CSF lactate, Prolonged prothr... OMIM:619055
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Hype... OMIM:615574
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Supernumerary nipple, Meningocele, Colpocepha... ORPHA:397715
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation OMIM:600721
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Gait disturbance, Ventriculomegaly ORPHA:500055
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Bradycardia OMIM:610015
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:94080
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia ORPHA:488635
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... ORPHA:99947
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Lateral ven... OMIM:617751
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Babinski sign, Increased CSF lactate, Ankle clonus,... ORPHA:565624
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... ORPHA:99828
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... OMIM:203450
Sneddon Syndrome
Tremor, Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension, Hemiparesis ORPHA:820
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spasticity, Dandy-... ORPHA:3078
Cerebrooculofacioskeletal Syndrome 1
Agenesis of corpus callosum, Hirsutism, Ventriculomegaly, Dehydration OMIM:214150
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Hemiparesis, Dandy-Walker malformation, Generalized hirsuti... ORPHA:2481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Hydromyelia, Sp... OMIM:615287
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ventricle, Peripheral pu... OMIM:619575
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration, Coarctation of aorta, Hypertension, Long eyelashes OMIM:616069
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lactate, Choreoathetosi... OMIM:616034
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Lateral... ORPHA:572798
Gómez-López-Hernández Syndrome
Hydrocephalus, Alopecia of scalp, Ataxia, Impaired pain sensation ORPHA:1532
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Lymphedema, Inability to walk, Paraparesis, Latera... ORPHA:2822
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Hypertonia, Agenesis... OMIM:619302
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Poor gross motor coordination, Ce... ORPHA:2148
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor fu... OMIM:300884
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
X-Linked Intellectual Disability, Wilson Type
Abnormal position of hair whorl, Lateral ventricle dilatation ORPHA:85290
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Alopecia, Decreased response to growth hormone stimulation test, Spina bifida, In... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Alopecia, Decreased response to growth hormone stimulation test, Spina bifida, In... ORPHA:363958
Edinburgh Malformation Syndrome
Hydrocephalus, Frontal hirsutism OMIM:129850
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
1Q21.1 Microduplication Syndrome
Hypertonia, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Sparse scalp hair, Anterior pituitary hypoplasia, Epistaxis, Highly ... OMIM:619841
Superficial Siderosis
Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Impaired temperature sensation... ORPHA:247245
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... OMIM:617967
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Hydrocephalus, Spastic tetraparesis OMIM:619470
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Sparse eyebrow, Ventriculomegaly, Gait ataxia OMIM:617011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Cardiomyopathy, Stroke, Dehydration ORPHA:79312
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Synophrys, Lateral ventricle dilatation, Sparse hair OMIM:620075
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Lateral... OMIM:619745
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Lateral ventricle dilatation, Hypertonia, Pulmonic stenosis OMIM:618914
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Intraventricular hemorrhage, Telangiectasia, Clumsiness, Gai... ORPHA:420741
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Diffi... ORPHA:488627
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly ORPHA:2462
Fried Syndrome
Hydrocephalus, Gait disturbance, Spastic diplegia ORPHA:85335
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Aortic regurgitation, Ataxia, Highly arched eyebrow, Spastic paraple... ORPHA:309282
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Spastic tetraparesis, Edema, Pericardial effusion, Spastic tet... OMIM:619487
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Lateral ventricle dilatation OMIM:614105
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Dehydration, Choreoathetosis, Cardiomyopathy, Tetraparesis ORPHA:27
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... OMIM:612863
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Chronic Hiccup
Dehydration ORPHA:396
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance ORPHA:26
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly, Sparse eyebrow, Gait ataxia, Difficulty walking, B... ORPHA:457359
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Spasticity OMIM:304100
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Inability to walk, Partial agenesis of the corpus callosum, Spastic ... ORPHA:300570
Slc35A2-Cdg
Spastic tetraparesis, Inability to walk, Lateral ventricle dilatation, Tetralogy of Fallot, Dandy... ORPHA:356961
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ventriculomegaly, Ataxia, Tremor, Inability to walk, Widow's peak, Lateral... OMIM:619229
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Supernumerary nipple, Wide anterior fontanel, Unsteady gait, Lateral ventricle dilatation ORPHA:457279
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Cephaloh... ORPHA:853
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Hemiparesis, Arterioven... ORPHA:624
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity, Aortic valve stenosis OMIM:615599
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia, Agenesis of corpus callos... OMIM:608836
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Patent ductus arteriosus, Truncal a... OMIM:220220
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia OMIM:618174
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Dehydration, Increas... OMIM:616271
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus ca... OMIM:619955
Joubert Syndrome 14
Encephalocele, Ataxia, Highly arched eyebrow, Hydrocephalus, Meningocele, Intracranial hemorrhage... OMIM:614424
Cog5-Cdg
Abnormality of the frontal hairline, Lateral ventricle dilatation, Oligohydramnios, Truncal ataxia ORPHA:263487
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... OMIM:304050
Distal Deletion 10Q
Ataxia, Clonus, Patent ductus arteriosus, Widow's peak, Unsteady gait, Poor fine motor coordinati... ORPHA:96148
Cerebral Visual Impairment
Cerebral palsy, Hydrocephalus, Clumsiness, Intracranial hemorrhage, Ischemic stroke, Oculomotor a... ORPHA:447788
Pyruvate Carboxylase Deficiency
Ataxia, Increased CSF alanine concentration, Increased CSF citrulline concentration, Tremor, Abno... ORPHA:3008
Kleeblattschaedel
Hydrocephalus OMIM:148800
Alexander Disease Type I
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spasticit... ORPHA:363717
Meningioma
Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Reduced circ... ORPHA:2495
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Dehydration, Limb hypertonia OMIM:606054
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Peripheral arterial stenosis, Cardiomyopathy, Hyperten... ORPHA:580
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:276621
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Medulloblastoma
Ataxia, Cerebellar hemorrhage, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebella... ORPHA:616
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Polyhydramnios, Inability to walk, Synophrys, Hirsut... OMIM:615485
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Parkinsonism, Apraxia OMIM:607485
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Weaver Syndrome
Patent ductus arteriosus, Slurred speech, Fine hair, Poor fine motor coordination, Lateral ventri... OMIM:277590
Gabriele-De Vries Syndrome
Waddling gait, Aortopulmonary collateral arteries, Sparse eyebrow, Tremor, Lateral ventricle dila... OMIM:617557
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Edema, Dehydration ORPHA:103910
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Spastic tetraplegia OMIM:300886
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... ORPHA:90068
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum OMIM:307000
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops f... ORPHA:79282
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ... ORPHA:91350
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity ORPHA:397951
Menkes Disease
Alopecia, Brittle hair, Babinski sign, Intracranial hemorrhage, Hypertonia, Sparse hair OMIM:309400
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Abnormality of secondary sexual hair, Hypothalamic hamartoma ORPHA:649929
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation, Hypertrophic cardiom... OMIM:212140
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Unsteady gait, Hemiparesis, Fusion of the left and right thalami, Agenesis of corp... OMIM:617542
Mosaic Trisomy 1
Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, Lateral ventricle dilatation... ORPHA:1692
Nasu-Hakola Disease
Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Ventriculomegaly ORPHA:2770
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... ORPHA:163596
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Oligohydramnios ORPHA:293725
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Spasticity, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Familial Cold Urticaria
Dysesthesia, Dehydration ORPHA:47045
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus, Hydrops fetalis, Ascites, Fair hair OMIM:269920
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Enteric Anendocrinosis
Portal hypertension, Dehydration ORPHA:83620
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Gait disturbance, Ventriculomegaly ORPHA:272
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Thick eyebrow, Cerebral palsy, Ataxia, Polyhydramnios, Hydrocephal... OMIM:619833
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Coach Syndrome 2
Oculomotor apraxia, Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Reticular Dysgenesis
Dehydration ORPHA:33355
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus, Inability to walk OMIM:613155
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Hogue-Janssen Syndrome 2
Abnormal hair whorl, Hydrocephalus, Inability to walk, Gait ataxia, Agenesis of corpus callosum, ... OMIM:616362
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:29072
Congenital Toxoplasmosis
Hydrocephalus, Ascites, Ventriculomegaly ORPHA:858
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, ... OMIM:609757
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Polyhydramnios, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of ... OMIM:225790
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Inability to walk, Hydr... ORPHA:2356
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus, Hemiplegia, Gait disturbance ORPHA:2181
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Long eyelashes, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus, Dehydration OMIM:560000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair... ORPHA:381
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Dila... ORPHA:434179
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Broad eyebrow, Synophrys OMIM:618302
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity ORPHA:275543
Congenital Sialidosis Type 2
Abnormal EKG, Ataxia, Edema, Hydrocephalus, Dysmetria, Telangiectasia, Myoclonus, Generalized hyp... ORPHA:93400
Alternating Hemiplegia Of Childhood
Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Thanatophoric Dysplasia Type 2
Encephalocele, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Increased nuchal transluc... ORPHA:93274
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Agenesi... OMIM:207950
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Portal hypertension, Dehydration ORPHA:213
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Dehydration, Fine ... ORPHA:634
Fetal Gaucher Disease
Intracranial hemorrhage, Hypertonia, Hydrops fetalis ORPHA:85212
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Osteogenesis Imperfecta
Aortic regurgitation, Somatic sensory dysfunction, Ataxia, Cerebral hemorrhage, Hydrocephalus, No... ORPHA:666
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Chylothorax, Cerebral hemorrhage OMIM:620278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Low anterior hairline, Dandy-Walker malformation, Agenesis of corpus callosum, Ven... OMIM:613153
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Central Diabetes Insipidus
Dehydration ORPHA:178029
Vascular Hyalinosis
Hematochezia, Premature graying of hair, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Spastic paraplegia OMIM:615191
Beta-Ketothiolase Deficiency
Ataxia, Edema, Dehydration, Hypertension, Extrapyramidal dyskinesia, Hypotension, Spasticity ORPHA:134
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Colpocephaly, Myoclonus, Ag... OMIM:620352
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly ORPHA:588
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Dehydration OMIM:264350
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Hemiparesis, Stroke, Total a... ORPHA:494424
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Lymphedema ORPHA:3226
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Dehydration OMIM:251120
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly, Hypertrichosis OMIM:619479
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Mirage Syndrome
Hydrocephalus, Patent ductus arteriosus, Paraplegia, Intracranial hemorrhage, Petechiae OMIM:617053
Weiss-Kruszka Syndrome
Highly arched eyebrow, Dextrotransposition of the great arteries, Colpocephaly, Agenesis of corpu... OMIM:618619
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Hypertension, Second degr... ORPHA:369929
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:177907
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Unsteady gait, Limb hypertonia, Fetal intraventricular hemorrhage,... OMIM:618480
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Krabbe Disease
Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity, Increased CSF protein co... OMIM:245200
Keppen-Lubinsky Syndrome
Polyhydramnios, Spastic tetraparesis, Opisthotonus, Lateral ventricle dilatation, Hypertonia OMIM:614098
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Hirsutism, Ventriculomegaly OMIM:175700
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Cardiac arrest, Edema, Spastic hemiparesis, Dilated cardiomyopathy, Dehydration, Prolonge... ORPHA:20
Edinburgh Malformation Syndrome
Hydrocephalus, Synophrys, Low posterior hairline, Hypertonia, Generalized hirsutism, Hirsutism ORPHA:1895
Osteootohepatoenteric Syndrome
Hydrocephalus, Dehydration OMIM:619377
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Dehydration OMIM:203400
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Synophrys, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Dehydration OMIM:620125
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Partial agenesis of the corpus callosum, Patent ductus arteriosus,... OMIM:620113
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Lamellar Ichthyosis
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dehydration ORPHA:313
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Ataxia, Hydrocephalus, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathet... OMIM:614969
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Hydrocephalus, Low posterior hairline, Pulmonic stenosis, Hypertrophic cardiom... ORPHA:2701
Harlequin Ichthyosis
Sudden cardiac death, Dehydration ORPHA:457
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Clonus, Hydrocephalus, Abnormal pyramidal sign... ORPHA:370959
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia ORPHA:284227
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Dehydration ORPHA:556030
Thanatophoric Dysplasia
Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Hydrocephalus, Ventricul... ORPHA:2655
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Synophrys, Subdural hemorrhage, Arterial rupture, Difficulty walking, Bruisi... ORPHA:536545
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Sparse eyebrow, Patent ductus arteriosus, Lateral ventricle dilatation,... OMIM:619869
Scalp-Ear-Nipple Syndrome
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Fine hair, Hy... OMIM:181270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Lateral ventricle dilatation, Hypertonia, Spasticity, Thick eyebrow OMIM:618367
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Tenorio Syndrome
Thick eyebrow, Cerebral palsy, Raynaud phenomenon, Hydrocephalus, Clumsiness, Syncope, Gait distu... OMIM:616260
Halperin-Birk Syndrome
Inability to walk, Spastic tetraplegia, Colpocephaly, Hypertonia, Long eyelashes, Pseudobulbar pa... OMIM:618651
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Lateral ventric... OMIM:300868
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Polyhydramnios, Ventriculomegaly OMIM:219730
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Clumsiness, Thin eyebr... OMIM:619320
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Dehydration OMIM:177735
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Wolcott-Rallison Syndrome
Double outlet right ventricle, Ascites, Difficulty walking, Dehydration ORPHA:1667
Developmental And Epileptic Encephalopathy 49
Thick eyebrow, Exaggerated startle response, Facial-lingual fasciculations, Dysplastic corpus cal... OMIM:617281
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Dehydration, Oligohydramnios OMIM:208085
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Stroke, Gait disturb... ORPHA:395
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... ORPHA:324636
Thanatophoric Dysplasia Type 1
Polyhydramnios, Wide anterior fontanel, Patent ductus arteriosus, Hydrocephalus, Increased nuchal... ORPHA:1860
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Long eyelashes, Difficulty walking, Spastic... OMIM:618476
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Dehydration ORPHA:171876
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Hydrocephalus, Hemipar... ORPHA:974
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Hydrocephalus, Hypertonia, Spastic tetraparesis ORPHA:171839
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Tricuspid regurgitation, Hydrops fetalis OMIM:263520
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydrocephalus, Double outlet right ventric... OMIM:220210
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Clumsiness OMIM:300558
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios OMIM:615368
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ray... ORPHA:1855
Secondary Short Bowel Syndrome
Dehydration, Atherosclerosis ORPHA:95427
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Parkes Weber Syndrome
Abnormal bleeding, Somatic sensory dysfunction, Peripheral arteriovenous fistula, Cerebral arteri... ORPHA:90307
B4Galt1-Cdg
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation, Edema ORPHA:79332
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogen... ORPHA:31824
Cholera
Tachycardia, Dehydration, Hypovolemic shock, Stroke, Hypotension ORPHA:173
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia ORPHA:31
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Supernumerary nipple, Polyhydramnios, Hydrocephalus, Fine hair, Gait disturbanc... ORPHA:1812
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait disturbance, Oculomotor... ORPHA:220497
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro... ORPHA:91348
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Partial agenesis of the corpu... OMIM:210710
Multiple Sulfatase Deficiency
Ataxia, Periorbital edema, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ventri... OMIM:272200
Acute Transverse Myelitis
Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Subarachnoid ... ORPHA:139417
Trisomy 1Q
Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal translucency, Hydrops f... ORPHA:261344
Hypophosphatasia, Infantile
Intracranial hemorrhage, Polyhydramnios OMIM:241500
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave ORPHA:231625
Hemangioblastoma
Dysesthesia, Hydrocephalus ORPHA:252054
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Dehydration, H... ORPHA:94093
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration, Hirsutism, Hypotension, Adrenocorticotropic hormone excess ORPHA:90791
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, Dandy-Walker malfor... OMIM:304340
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Patent ductus arteriosus, Hydrocephalus, Double outlet right ventricle, A... OMIM:614886
Microvillus Inclusion Disease
Hypovolemia, Dehydration ORPHA:2290
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Heart murmur, Pineal cyst, Mitral regurgit... OMIM:615873
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Patent ductus arteriosus, Unsteady gait, Sparse hair, Loss of ambulation OMIM:616682
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Mitral regurgitation, Ventriculomegaly, Vascular ring OMIM:603387
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, Hydrocepha... ORPHA:3452
Pallister-Hall-Like Syndrome
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma OMIM:241800
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Hydrocephalus, Ventriculomegaly OMIM:615630
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Spasticity ORPHA:1946
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hypovolemia, Dehydration, Adrenocorticotropic hor... ORPHA:168558
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Dehydration, Hypertension, Oligohydramnios OMIM:263200
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait disturbance, Oculomotor... ORPHA:220493
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... ORPHA:1908
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope ORPHA:230
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Hemiplegia, Subarachnoid hemorrhage OMIM:243700
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Lateral ventricle dilatation, Thick eyebrow, Oligohydramnios OMIM:300896
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hypovolemia, Dehydration, Adrenocorticotropic hor... ORPHA:289548
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Temple Syndrome
Hydrocephalus, Decreased response to growth hormone stimulation test ORPHA:254516
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Venous insufficiency, Chorea, Arterial ste... ORPHA:565
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Transient ischemic attack, Sparse eyebrow, Dysplastic corpus callosum, Patent ductus ... ORPHA:500150
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Coarctation of a... OMIM:617260
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Congestive heart failure, Intracranial hemorrhage, Hypertension... ORPHA:363618
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, Hydro... OMIM:261740
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Dehydration, Stroke, Hypotension... ORPHA:275761
Emanuel Syndrome
Torticollis, Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Aort... OMIM:609029
Arachnoiditis
Hydrocephalus, Paresthesia ORPHA:137817
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Sparse eyebrow, Hydrocephalus, Aortic valve stenosis, Agenesis of corpus callo... ORPHA:459061
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... ORPHA:464329
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Dilated cardiomyopathy, Colpocephaly, Mitral regurg... ORPHA:261250
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus, Oculomotor apraxia, Pleural effusion, Dandy-Walker ma... OMIM:617822
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hydrocephalus, Patent ductus arteriosus, Peau d'orange, Ventriculomegaly OMIM:614576
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Gait disturbance OMIM:613330
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Rhombencephalosynapsis
Fusion of the left and right thalami, Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:59315
Tarp Syndrome
Athetosis, Tetralogy of Fallot, Subdural hemorrhage, Oligohydramnios OMIM:311900
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Synophrys ORPHA:238769
Joubert Syndrome
Encephalocele, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait disturbance, Oculomotor... ORPHA:475
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Wide anterior fontanel, Hydrocephalus, Dilated cardiomyopathy, Pate... OMIM:607872
Classic Homocystinuria
Gastrointestinal hemorrhage, Sparse scalp hair, Pulmonary embolism, Hemiplegia/hemiparesis, Intra... ORPHA:394
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... ORPHA:268810
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Interrupted aorti... ORPHA:163979
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Anterior pituitary hypoplasia... OMIM:619534
Hydrolethalus
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Polyhydramnios ORPHA:2189
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Lower limb hypertonia, Ventriculomegaly ORPHA:2169
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Oculocerebrocutaneous Syndrome
Alopecia, Hemiplegia/hemiparesis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly ORPHA:1647
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation OMIM:614846
Alexander Disease
Ataxia, Clonus, Sudden cardiac death, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnorma... ORPHA:58
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of the great arteries... ORPHA:1926
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Diaphragmatic para... OMIM:232300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Dandy-Walker ma... OMIM:612938
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Dys... ORPHA:99826
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Pearson Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Cardiac conduction abnormality, Hy... ORPHA:699
Vipoma
Elevated circulating growth hormone concentration, Increased circulating gonadotropin level, Pitu... ORPHA:97282
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, A... OMIM:256500
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Polyhydramnios, Dandy-Walker malformation OMIM:310400
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation,... ORPHA:109
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Frontal upsweep of hair, Tetralogy of Fa... OMIM:612582
Trisomy 17P
Patent ductus arteriosus, Hydrocephalus, High anterior hairline, Low posterior hairline, Hyperton... ORPHA:261290
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Highly arched eyebrow, Retinal telangiectasia OMIM:620157
Methylmalonic Aciduria, Cbla Type
Tremor, Dehydration OMIM:251100
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test OMIM:609053
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Clonus, Dehydration, Fine hair, Joint swelling, Ventriculomegaly ORPHA:534
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Deh... OMIM:259900
Emanuel Syndrome
Truncus arteriosus, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Aortic valve sten... ORPHA:96170
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... ORPHA:398124
Renal Hypoplasia
Hypertension, Dehydration ORPHA:93101
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Hypovolemia, Ataxia, Apraxia ORPHA:99885
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Wide anterior fontanel, Heart murmur, Pulmonary arterial... ORPHA:3309
Shigellosis
Myocarditis, Hypovolemic shock, Dehydration, Purpura ORPHA:810
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Akinesia, Tremor, Inability to walk, Stroke-like episode, Intracra... ORPHA:86309
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... OMIM:619895
Peho Syndrome
Palpebral edema, Hydrocephalus, Pedal edema, Peripheral edema, Ventriculomegaly ORPHA:2836
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Palpebral edema, Wide anterior fontanel, Heart mur... OMIM:614866
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Bruising susceptibility, Agenesis of corpus callosum, Prominent superficial veins OMIM:612940
Oligomeganephronia
Hypertension, Pulmonary venous occlusion, Dehydration ORPHA:2260
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypertonia, Hydrocephalus, White hair, Ataxia ORPHA:2720
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Hydrocephalus, Prominent eyelashes, Coarctation of aorta, ... OMIM:147920
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Persistent left superior vena cava, Transposition of the great arteries, Polyhydra... OMIM:314390
Bresek Syndrome
Alopecia, Hydrocephalus ORPHA:85284
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Hydrocephalus, Myelomeningoc... OMIM:613686
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Muenke Syndrome
Hydrocephalus, Hypopigmentation of hair ORPHA:53271
Desmosterolosis
Rigidity, Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Hypertonia,... ORPHA:35107
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Multiple Endocrine Neoplasia Type 1
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Pituitary cortico... ORPHA:652
Nelson Syndrome
Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Intracranial hemorrhage... ORPHA:199244
Encephalocraniocutaneous Lipomatosis
Alopecia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Peripheral pulmo... OMIM:613001
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus, Anomalous pulmonary venous return, Transposition of the great ar... ORPHA:244
Idiopathic Hypereosinophilic Syndrome
Somatic sensory dysfunction, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary em... ORPHA:3260
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Familial Renal Glucosuria
Dehydration ORPHA:69076
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Dilation of Virchow-Robin spaces, Supernumerary nipple, Highly arched eyebrow OMIM:619951
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Holoprosencep... OMIM:253800
Desmosterolosis
Patent ductus arteriosus, Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous... OMIM:602398
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly, Polyhydramnios ORPHA:3376
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Highly arched eyebrow, T... OMIM:618460
Fg Syndrome Type 1
Broad-based gait, Hydrocephalus, Coarctation of aorta, Frontal upsweep of hair, Small pituitary g... ORPHA:93932
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Ataxia, Highly arched eyebrow ORPHA:2318
Dend Syndrome
Dehydration ORPHA:79134
Crouzon Syndrome
Hydrocephalus ORPHA:207
Temple Syndrome
Hydrocephalus OMIM:616222
3C Syndrome
Hydrocephalus, Tetralogy of Fallot, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malfor... ORPHA:7
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Hydrocephalus, Wide anterior fontanel, Pulmonary arterial hypertension OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Alopecia, Hirsutism ORPHA:90795
Cockayne Syndrome Type 3
Dry hair, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Premature graying of hair, Card... ORPHA:90324
Lowry-Maclean Syndrome
Hemiparesis, Generalized hypertrichosis, Hydrocephalus, Coarctation of aorta ORPHA:2409
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly, Coarctation of aorta OMIM:300514
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Pain insensitivity, Ataxia, Incoordination... ORPHA:90062
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Ataxia, Highly arched eyebrow, Portal hypertension, Tremor, Hydrocephalu... ORPHA:1454
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Tetraplegia, Pulmonic stenosis, Dandy-Walker malformation, Agenesis of corpus call... OMIM:257300
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Clonus, Supernumerary nipple, Sparse eyebrow, Synophrys, Colpocephaly, Lower l... ORPHA:477993
Monosomy 18Q
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa... ORPHA:1600
Large Congenital Melanocytic Nevus
Hydrocephalus, Generalized hirsutism ORPHA:626
Bartter Syndrome, Type 3
Hypotension, Dehydration OMIM:607364
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Ataxia, Spasticity ORPHA:220295
Achondroplasia
Wide anterior fontanel, Hydrocephalus ORPHA:15
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi... OMIM:309801
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep... OMIM:616914
Gorlin Syndrome
Hydrocephalus ORPHA:377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus, Spasticity, Hypertrichosis OMIM:618590
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... ORPHA:740
Cole-Carpenter Syndrome 2
Hydrocephalus, Oligohydramnios OMIM:616294
Walker-Warburg Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum, Polyhydramnios ORPHA:3301
Pelvis-Shoulder Dysplasia
Waddling gait, Spina bifida, Hydrocephalus, Facial hirsutism, Hydranencephaly ORPHA:2839
Thanatophoric Dysplasia, Type I
Hydrocephalus, Polyhydramnios OMIM:187600
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia ORPHA:65285
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Lymphedema, Abnormal eyelash morphology, Hydrocephalus, Low post... ORPHA:1340
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction, Dehydration ORPHA:90038
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Hydrocephalus, O... OMIM:115150
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Gracile Bone Dysplasia
Hydrocephalus, Ascites OMIM:602361
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Oculomotor apraxia OMIM:608091
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu... ORPHA:54595
Hurler Syndrome
Cerebral palsy, Angina pectoris, Hydrocephalus, Abnormal pyramidal sign, Cardiomyopathy, Hyperten... ORPHA:93473
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Facial paralysis OMIM:259710
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Hydrops fetalis, Hirsutism ORPHA:1865
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Edema, Dilated cardiomyopathy, Dehydration, Nail dystrophy, Bradycardia ORPHA:79404
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Agenesis of corpus callosum OMIM:264480
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Opitz-Kaveggia Syndrome
Wide anterior fontanel, Hydrocephalus, Partial agenesis of the corpus callosum, Fine hair, Fronta... OMIM:305450
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Colpocephaly, Ataxia, Highly arched eyebrow OMIM:620083
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Poor motor coordination, Decreased response to growth hormone stim... OMIM:613406
Osteopetrosis, Autosomal Recessive 5
Clonus, Hydrocephalus, Spastic tetraplegia, Hypertonia, Ascites, Ventriculomegaly, Limb hypertonia OMIM:259720
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Double outlet right ventricle, ... OMIM:301043
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Hypovolemia, Polyhydramnios ORPHA:223
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Thick hair, Hydrocephalus, Synophrys, Hirsutism, Atrioventricular blo... ORPHA:581
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Dehydration, Oligohydramnios ORPHA:96191
Bartter Syndrome Type 4
Hypertension, Dehydration, Polyhydramnios, Clumsiness ORPHA:89938
Multiple Sulfatase Deficiency
Hydrocephalus, Coarse hair, Thick eyebrow ORPHA:585
Distal Renal Tubular Acidosis
Dehydration, Paralysis ORPHA:18
Juvenile Nephropathic Cystinosis
Hypovolemia, Dehydration ORPHA:411634
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Spina bifida, Hydrocephalus, Synophrys, Low anterior hairline, Ankle clonu... OMIM:613776
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Hydrops fetalis, Coarctation of aorta ORPHA:268249
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hydrocephalus, Abnormal cardiovascular system physiology, ... ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Oligohydramnios ORPHA:1834
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum, Ventriculome... ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... OMIM:614643
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Hydrocephalus OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Apert Syndrome
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Occipital meningocele, Ventriculomegaly OMIM:616546
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus, Highly arched eyebrow OMIM:239300
Mucopolysaccharidosis Type 1
Congestive heart failure, Hydrocephalus, Hemiplegia/hemiparesis, Low anterior hairline, Paresthes... ORPHA:579
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Hydrocephalus, Hypoplastic aortic arch, Agenesis of corpus callosum, Ventric... ORPHA:457284
Endocrine-Cerebroosteodysplasia
Polyhydramnios, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:612651
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Hirsutism OMIM:224400
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
High anterior hairline, Hypertonia, Subdural hemorrhage OMIM:619714
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Hirsutism, Hydrops fetalis, Cardiomyopathy, Coarse hair, Thick eyebrow OMIM:253220
Lateral Meningocele Syndrome
Patent ductus arteriosus, Hydrocephalus, Meningocele, Coarse hair, Aortic aneurysm OMIM:130720
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Thick hair, Congestive heart failure, Patent ductus arterio... ORPHA:505248
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn... ORPHA:2306
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Paresthesia, Low-to-normal blood pressure, Dehydration OMIM:601678
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Telangiectasia of the skin, Decreased response to growth hormone stimulation ... OMIM:616007
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Hypoplastic nipples,... OMIM:269860
Distal Triplication 15Q
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation ORPHA:314588
Dextrocardia
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries ORPHA:1666
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial paralysis OMIM:259700
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Pulmonary artery sling, Impaired pain sensation, Inability to walk, Spasticity,... ORPHA:261537
Neurooculorenal Syndrome
Ectopic posterior pituitary, Highly arched eyebrow, Aqueductal stenosis, Hydrocephalus, Partial a... OMIM:620305
Microsporidiosis
Myocarditis, Dehydration ORPHA:2552
Rabin-Pappas Syndrome
Hydrocephalus, Highly arched eyebrow, Retinal telangiectasia OMIM:620155
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Pulmonary artery sling, Highly arched eyebrow, Impaired pain sensation, Inabili... ORPHA:261552
Fraser Syndrome 3
Hydrocephalus, Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Agenesis of corpus callosum, Arrhythmia ORPHA:157
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia,... ORPHA:2072
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the cor... OMIM:619512
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hydrocephalus, Hypertrichosis OMIM:309900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Absent nipple OMIM:104350
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Paresthesia, Low-to-normal blood pressure, Dehydration OMIM:241200
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, P... ORPHA:538
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Frontal balding, Hypovolemia, Dehydration, Hypotension, Hirsutism ORPHA:90794
47,Xyy Syndrome
Increased circulating gonadotropin level, Hydrocephalus ORPHA:8
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Low anterior hairline, Dysmetria, Gait ataxia, Colpocephaly ORPHA:75857
Gaucher Disease
Abnormal bleeding, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Hydrops fetalis, Pulmon... ORPHA:355
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Hypertonia, Intention tremor, Ataxia, Aortic regurgitation, Torticollis, Isome... OMIM:619475
7Q11.23 Microduplication Syndrome
Sparse anterior scalp hair, Patent ductus arteriosus, Hydrocephalus, Unsteady gait, Dysmetria, Lo... ORPHA:96121
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries OMIM:313850
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly ORPHA:1335
Holoprosencephaly
Encephalocele, Thick eyebrow, Highly arched eyebrow, Hydrocephalus, Synophrys, Chorea, Spasticity... ORPHA:2162
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
Aymé-Gripp Syndrome
Sparse scalp hair, Pericarditis, Pericardial effusion, Patent ductus arteriosus, Hydrocephalus, L... ORPHA:1272
Marshall-Smith Syndrome
Thick eyebrow, Brittle hair, Highly arched eyebrow, Hydrocephalus, Patent ductus arteriosus, Syno... OMIM:602535
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Interrupted aortic arch ORPHA:250989
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Synophrys, Loba... OMIM:610828
Mend Syndrome
Wide anterior fontanel, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation, Limb hyp... ORPHA:401973
Cystinosis, Nephropathic
Hypopigmentation of hair, Dehydration OMIM:219800
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis, Calcification of the aorta OMIM:231005
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Hurler Syndrome
Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Hirsutism OMIM:607014
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Thoracic aortic aneurysm, Hydrocephalus, Ascending tubular aorta aneurysm, Aortic ro... ORPHA:536467
Shprintzen-Goldberg Craniosynostosis Syndrome
Wide anterior fontanel, Hydrocephalus, Aortic aneurysm OMIM:182212
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation... OMIM:253200
Orofaciodigital Syndrome I
Dry hair, Alopecia, Hydrocephalus, Myelomeningocele, Hypertension, Hypothalamic hamartoma, Sparse... OMIM:311200
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility OMIM:618162
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Hydrocephalus ORPHA:1555
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Proximal Renal Tubular Acidosis
Hypovolemia, Dehydration ORPHA:47159
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Patent ductus arteriosus, H... OMIM:306955
Costello Syndrome
Curly hair, Polyhydramnios, Wide anterior fontanel, Hydrocephalus, Hypertrophic cardiomyopathy, P... OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Agenesis... OMIM:236670
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Crouzon Syndrome
Hydrocephalus OMIM:123500
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm... ORPHA:228123
Knobloch Syndrome
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Abnormal hair morphology ORPHA:1571
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Polyhydramnios, Spina bifida ORPHA:3412
Cerebrooculonasal Syndrome
Encephalocele, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Dandy-Walker malformation, Ventri... OMIM:605627
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Hydromyelia OMIM:600145
Dubowitz Syndrome
Sparse scalp hair, Wide anterior fontanel, Hydrocephalus, Low anterior hairline, Fine hair, Spina... ORPHA:235
Achondroplasia
Hydrocephalus, Polyhydramnios OMIM:100800
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Vascular dilatation, Hydrocephalus, Patent duc... OMIM:249000
Apert Syndrome
Hydrocephalus, Overriding aorta, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Partial agenesis of the corpus callosum,... OMIM:300373
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Alopecia, Arterial tortuosity, P... OMIM:619472
Fontaine Progeroid Syndrome
Sparse scalp hair, Prominent superficial veins, Tricuspid regurgitation, Absent nipple, Wide ante... OMIM:612289
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Coarctation of ... OMIM:270400
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Tremor, Pulmonary artery stenosis, Hydrocephalus, Pulmonary arterial... ORPHA:667
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus, Heart murmur, Low posterior hairline, Tetralogy of Fall... ORPHA:264450
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... OMIM:609192
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:618820
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Aortic root aneurysm, Thick eyebrow, Low posterior hairline OMIM:245600
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function OMIM:277400
Alobar Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Inability... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Inability... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Inability... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Inability... ORPHA:220386
Stromme Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:243605
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Low anterior hairline, Facial hirsutism OMIM:260660
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hydrocephal... OMIM:610829
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Polyhydramnios ORPHA:2166
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility, Agenesis of corpus callosum OMIM:227646
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Hyperesthesia ORPHA:637
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Pat... OMIM:610168
Kabuki Syndrome
Highly arched eyebrow, Hydrocephalus, Coarctation of aorta, Long eyelashes, Ventriculomegaly, Spa... ORPHA:2322
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Cystic Fibrosis
Dehydration OMIM:219700
Jacobsen Syndrome
Abnormal eyelash morphology, Hydrocephalus, Holoprosencephaly, Spasticity OMIM:147791
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Highly arched eyebrow, Tri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Highly arched eyebrow, Tri... ORPHA:353277
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Hajdu-Cheney Syndrome
Thick eyebrow, Short nail, Patent ductus arteriosus, Hydrocephalus, Synophrys, Long eyelashes, Hi... OMIM:102500
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge OMIM:101800
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Sparse eyebrow, Hydrocephalus, Increased nuc... ORPHA:3472
Mohr Syndrome
Hydrocephalus OMIM:252100
Mend Syndrome
Hydrocephalus, Hypertonia, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Pmm2-Cdg
Pericarditis, Angina pectoris, Ataxia, Elevated circulating growth hormone concentration, Abnorma... ORPHA:79318
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal aortic morphology, Abnormal carot... ORPHA:84
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Hydrocephalus, Low anterior hairline, Synophrys, Coarse hair, Aortic va... ORPHA:955
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Spina bifida, Polyhydramnios, Retinal arteriolar tortuosity, Hydroce... ORPHA:567
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Wide anterior fontanel, Hydrocephalus, Hypertensi... ORPHA:95699
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Cryptococcosis
Pleural effusion, Hydrocephalus, Cerebral edema ORPHA:1546
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Absent lowe... OMIM:154400
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele ORPHA:90652
Neurofibromatosis Type 1
Abnormal hair quantity, Ataxia, Hydrocephalus, Arterial stenosis, Hypertension, Paresthesia ORPHA:636
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Palpebral edema, Patent ductus arteriosus, Hydrocephalus, Low posterior ... ORPHA:261337
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation, Ol... ORPHA:564
Campomelic Dysplasia
Short nail, Spina bifida, Polyhydramnios, Wide anterior fontanel, Hydrocephalus, Spinal dysraphism OMIM:114290
Split Cord Malformation
Tufted hairs, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Menin... ORPHA:573278
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Sparse scalp hair, Broad eyebrow, Absent eyebrow, Alopecia, Sparse eyelash... OMIM:264090
Raine Syndrome
Hydrocephalus, Highly arched eyebrow OMIM:259775
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Sparse scalp hair, Ataxia, Decreased response to growth hormone stimulatio... ORPHA:3455
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Abnormal eyelash morphology, Hydrocephalus, Dilated cardiomyopathy, Mitr... ORPHA:2556
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Marden-Walker Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Microphthalmia With Limb Anomalies
Venous insufficiency, Abnormal eyebrow morphology, Hydrocephalus ORPHA:1106
Peters-Plus Syndrome
Polyhydramnios, Wide anterior fontanel, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosi... OMIM:261540
Genitopatellar Syndrome
Sparse scalp hair, Colpocephaly, Agenesis of corpus callosum, Polyhydramnios OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Myoclonus, Ventriculomegaly, Spasticity OMIM:253280
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Pseudoaminopterin Syndrome
Sparse scalp hair, Hydrocephalus, Frontal upsweep of hair, Highly arched eyebrow ORPHA:221120
Focal Dermal Hypoplasia
Brittle hair, Supernumerary nipple, Hydrocephalus, Myelomeningocele, Telangiectasia, Patchy alope... OMIM:305600
Fetal Akinesia Deformation Sequence 1
Increased nuchal translucency, Hydrocephalus, Nonimmune hydrops fetalis, Polyhydramnios OMIM:208150
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Gait disturbance, Synophrys ORPHA:3042
Peters Plus Syndrome
Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Abnormal pulmonary vein morphology, Pulm... ORPHA:709
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardio... ORPHA:363700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hydrocephalus OMIM:619321
Baller-Gerold Syndrome
Wide anterior fontanel, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum OMIM:218600
Simpson-Golabi-Behmel Syndrome, Type 1
Short nail, Supernumerary nipple, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Cardio... OMIM:312870
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Hydrocephalus, Low posterior hairline, Agenesis of corpus callosum, Ventri... OMIM:194190
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Absent eyelashes, Hydrocephalus, Myelomeningocele, Extension of ha... OMIM:219000
Otopalatodigital Syndrome, Type Ii
Spina bifida, Wide anterior fontanel, Hydrocephalus, Widow's peak, Dilatation of the sinus of Val... OMIM:304120
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Hydrocephalus, Pulmonary ... ORPHA:3310
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Sparse hair OMIM:268300
Townes-Brocks Syndrome 1
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly OMIM:107480
Craniofacial Microsomia 1
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... OMIM:164210
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322

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 E2f5

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 E2f5.

No publications found that use IMPC mice or data for E2f5.

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