Gene Summary

Name:
kinesin family member 6
Synonyms:
D130004B10Rik,  D130084M03Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

20 Images

Human diseases caused by Kif6 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 Kif6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Enlarged sylvian cistern OMIM:615752
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Kleeblattschaedel
Hydrocephalus OMIM:148800
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Bradykinesia ORPHA:306669
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Abeta Amyloidosis, Iowa Type
Gait disturbance, Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Lethargy, Ataxia ORPHA:73256
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus, Lethargy ORPHA:26
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Dural Sinus Malformation
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, A... ORPHA:97339
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Primary Angiitis Of The Central Nervous System
Ataxia, Stroke, CSF pleocytosis, Cerebral vasculitis, Intracranial hemorrhage, Abnormal CSF prote... ORPHA:140989
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Increased CSF lactate, Inability t... ORPHA:79243
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle OMIM:617296
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage ORPHA:398189
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Gait disturbance, Arteri... ORPHA:136
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Episodic ataxia ORPHA:420179
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:3078
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegaly, Meningocel... ORPHA:397715
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:225790
Pettigrew Syndrome
Hydrocephalus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, ST segment depress... ORPHA:90065
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Dysplastic corpus callosum, Gait disturbance, Lateral ventricle dilatation, Diffi... ORPHA:488627
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum ORPHA:544488
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Fried Syndrome
Gait disturbance, Hydrocephalus ORPHA:85335
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Alexander Disease
Hydrocephalus, Increased CSF protein, Dysmetria, Ataxia OMIM:203450
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia ORPHA:488635
Cach Syndrome
Lateral ventricle dilatation, Dysmetria, Truncal ataxia, Limb ataxia ORPHA:135
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Difficulty ... ORPHA:572798
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Increased CSF lactate, Tip-toe gait, Lateral ventricle dilatation, Bradycardia ORPHA:565624
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Craniotelencephalic Dysplasia
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Central Precocious Puberty
Increased circulating gonadotropin level, Hydrocephalus, Hypothalamic hamartoma ORPHA:759
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormality of the cerebrospinal fluid ORPHA:314404
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus OMIM:619470
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Huntington Disease-Like 1
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Ventriculomegaly, Abnormal posturing ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Truncal ataxia, Patent ductus art... OMIM:220220
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation ORPHA:178469
Slc35A2-Cdg
Lateral ventricle dilatation, Inability to walk, Tetralogy of Fallot, Dandy-Walker malformation ORPHA:356961
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus OMIM:300884
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Snakebite Envenomation
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, ... ORPHA:449285
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage ORPHA:98880
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Ventriculomegaly, Lethargy, Bradycardia OMIM:617397
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... ORPHA:280679
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Dandy-Walker malformation, Meningocele ORPHA:2481
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Latera... ORPHA:300570
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle OMIM:619575
Distal Monosomy 10Q
Ataxia, Spina bifida occulta, Lateral ventricle dilatation, Patent ductus arteriosus, Unsteady gait ORPHA:96148
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... ORPHA:99828
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebral vascular morp... OMIM:300845
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Orthostatic hypotension, Gait disturbance, Lateral ventricle dilatation ORPHA:2822
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Ataxia, Unsteady gait ORPHA:457279
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Sneddon Syndrome
Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage OMIM:182410
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Achondroplasia
Hydrocephalus OMIM:100800
Aicardi Syndrome
Choroid plexus cyst, Dilated third ventricle, Partial agenesis of the corpus callosum, Spina bifi... OMIM:304050
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosu... OMIM:615287
Congenital Muscular Dystrophy, Fukuyama Type
Gait disturbance, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Dilation of Virchow-Robin ... OMIM:619955
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ataxia, Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalu... ORPHA:25
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cog5-Cdg
Lateral ventricle dilatation, Truncal ataxia ORPHA:263487
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Medulloblastoma
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Cerebellar hemorrhage, Cerebella... ORPHA:616
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus, Aortic regurgitation ORPHA:2181
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Isovaleric Acidemia
Cerebellar hemorrhage, Lethargy OMIM:243500
Mosaic Trisomy 1
Lateral ventricle dilatation, Coarctation of aorta, Agenesis of corpus callosum, Pulmonary artery... ORPHA:1692
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Venous insuf... ORPHA:624
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Superficial Siderosis
Ataxia, Arteriovenous malformation, Persistent bleeding after trauma, Abnormality of the cerebros... ORPHA:247245
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... ORPHA:494424
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus ORPHA:1516
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy OMIM:207950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hydrocephalus, Steppage gait ORPHA:99947
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Athetosis, Second degree atrioventricular block, Hypertension, Pulmonary... ORPHA:369929
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Arachnoiditis
Hydrocephalus ORPHA:137817
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Patent ductus arteriosus, Pulmonary arterial hypertension, Lethargy, Abnorm... OMIM:614857
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Dilated third ventricle, Dilated fourth ventricle, Dandy... ORPHA:434179
Acys Amyloidosis
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage ORPHA:100008
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... ORPHA:464321
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage ORPHA:100006
Hemangioblastoma
Hydrocephalus ORPHA:252054
Temple Syndrome
Hydrocephalus OMIM:616222
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Inability to walk, Gait ataxia, Ventriculomegaly, Agenesis of corpus callosum OMIM:616362
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly OMIM:609757
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:403
Joubert Syndrome 14
Hydrocephalus, Ataxia, Hypertension, Encephalocele, Dandy-Walker malformation OMIM:614424
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Temple Syndrome
Hydrocephalus, Decreased response to growth hormone stimulation test ORPHA:254516
Functioning Gonadotropic Adenoma
Hydrocephalus, Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased respon... ORPHA:91348
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:611134
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Spastic gait, Hydrocephalus OMIM:249630
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Inability to walk, Tip-toe gait, Abnormal posturing ORPHA:216866
Hydranencephaly
Abnormal internal carotid artery morphology, Abnormal cerebral artery morphology, Ventriculomegal... ORPHA:2177
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Anterior pit... ORPHA:177907
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Mirage Syndrome
Hydrocephalus, Petechiae, Patent ductus arteriosus, Intracranial hemorrhage OMIM:617053
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy, Lethargy OMIM:606054
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618619
Arachnoid Cyst
Hydrocephalus, Inability to walk, Holoprosencephaly, Subarachnoid hemorrhage, Gait disturbance, E... ORPHA:2356
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618476
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... ORPHA:2184
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Lethargy OMIM:251000
Infantile Sialic Acid Storage Disease
Hydrocephalus, Congestive heart failure OMIM:269920
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Arteriovenous malformation, Arrhythmia, Cerebral ische... ORPHA:60040
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased ... ORPHA:91350
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... ORPHA:324636
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly, Ataxia OMIM:619833
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy ORPHA:2701
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Arteriovenous malformation, Peripheral arteriovenous fistula, High-output congesti... ORPHA:137667
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Occipital e... ORPHA:370959
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Abnormal posturing ORPHA:225147
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Tetralogy... OMIM:220210
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Spi... ORPHA:1908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Ventriculomegaly, Antenatal intracerebral hemorrhage, Agenesi... OMIM:608836
Menkes Disease
Intracranial hemorrhage OMIM:309400
Parkes Weber Syndrome
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:90307
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage ORPHA:284227
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ataxia, Stroke, Gait disturbance, Ventriculomegaly, Lethargy ORPHA:395
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Aqueductal stenosis, Partial agenesis of the corpus call... ORPHA:1136
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:171839
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, P... ORPHA:79282
Hypophosphatasia, Infantile
Intracranial hemorrhage OMIM:241500
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly, Lethargy ORPHA:2169
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... ORPHA:906
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Transposition of the great arteries, Abnor... ORPHA:1926
Hydrolethalus
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Arrhinencephaly ORPHA:2189
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum OMIM:609053
Neonatal Lupus Erythematosus
Hydrocephalus, Abnormal bleeding, Arrhythmia, Abnormal electrophysiology of sinoatrial node origi... ORPHA:398124
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... ORPHA:99901
Rhombencephalosynapsis
Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly ORPHA:59315
Halperin-Birk Syndrome
Inability to walk, Ventriculomegaly, Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpu... OMIM:618651
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Partial agenesis... OMIM:619895
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Tenorio Syndrome
Hydrocephalus, Raynaud phenomenon, Syncope, Gait disturbance, Ventriculomegaly OMIM:616260
Choreoacanthocytosis
Loss of ambulation, Bradykinesia, Falls, Head titubation, Lateral ventricle dilatation, Dilated c... ORPHA:2388
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Abnormal common carotid artery morphology, Progressive ventriculomega... ORPHA:500150
Congenital Sialidosis Type 2
Hydrocephalus, Ataxia, Petechiae, Cherry red spot of the macula, Dysmetria, Abnormal EKG, Telangi... ORPHA:93400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Fusion of the lef... OMIM:610828
Crouzon Syndrome
Hydrocephalus ORPHA:207
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Muenke Syndrome
Hydrocephalus ORPHA:53271
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein OMIM:272200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Intracranial hemorrhage, Heart murmur, Patent ductus arteriosus, Interrupted aorti... ORPHA:163979
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
B4Galt1-Cdg
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Vascular ring OMIM:603387
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... ORPHA:464329
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Gorlin Syndrome
Hydrocephalus ORPHA:377
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... ORPHA:340
Joubert Syndrome With Renal Defect
Hydrocephalus, Ataxia, Gait disturbance, Encephalocele, Agenesis of corpus callosum ORPHA:220497
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly OMIM:614576
Spondyloenchondrodysplasia
Raynaud phenomenon, Vasculitis, Ventriculomegaly, Hypertension, Abnormal lateral ventricle morpho... ORPHA:1855
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Ao... ORPHA:109
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Coarctation of aorta, Patent ductus arteriosus, Ventriculomegaly, Colpocephaly, ... OMIM:617260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Griscelli Syndrome
Hydrocephalus, Ataxia, Encephalocele ORPHA:381
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Adams-Oliver Syndrome
Hydrocephalus, Arteriovenous malformation, Tetralogy of Fallot, Pulmonary artery atresia, Portal ... ORPHA:974
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Abnormal inferio... ORPHA:244
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
Whipple Disease
Hydrocephalus, Ataxia, Myocarditis, Hypotension, Myocardial infarction, Gastrointestinal hemorrha... ORPHA:3452
Classic Homocystinuria
Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism,... ORPHA:394
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Dandy-Walker malformation OMIM:612938
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
3C Syndrome
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of Fallot, Ventriculomegaly, D... ORPHA:7
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic atherosclerotic lesion, Mitral regurgitation, Intracranial hemorrha... ORPHA:363618
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Prominent superficial veins, Agenesis of corpus callosum, Bruising susceptibility OMIM:612940
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Emanuel Syndrome
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Truncus arteriosus, Patent ductus arteri... ORPHA:96170
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hydrocephalus, Atrioventricular block, Supraventricular tachycard... ORPHA:137675
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Telangiectasia, Agenesis of corpus ... OMIM:612582
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Choreoathetosis, Ventriculomegaly, Ataxia OMIM:614969
Joubert Syndrome With Ocular Defect
Hydrocephalus, Ataxia, Gait disturbance, Encephalocele, Agenesis of corpus callosum ORPHA:220493
Sandifer Syndrome
Hematemesis, Abnormal posturing ORPHA:71272
Joubert Syndrome
Gait disturbance, Hydrocephalus, Ataxia, Encephalocele ORPHA:475
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Colpocephaly, Ventriculomegaly ORPHA:261250
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Craniopharyngioma
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Increased circulating ... ORPHA:54595
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Fanconi Anemia, Complementation Group B
Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly, Coarctation of aorta OMIM:300514
Walker-Warburg Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Gait disturbance, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Lethargy ORPHA:79284
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
Menkes Disease
Abnormal carotid artery morphology, Intracranial hemorrhage, Vascular dilatation, Arterial stenos... ORPHA:565
Osteogenesis Imperfecta
Loss of ambulation, Hydrocephalus, Ataxia, Cerebral hemorrhage, Bruising susceptibility, Arterial... ORPHA:666
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Tricuspid regurgitation, Patent ductus arteriosus, Agenesis of corpus callosum, Pe... OMIM:612863
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Patent ductus arteriosus OMIM:614886
Sturge-Weber Syndrome
Hydrocephalus, Stroke, Conjunctival telangiectasia, Pulmonary embolism, Abnormal cerebral vascula... ORPHA:3205
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Ataxia, Encephalocele ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Encephalocele, Dandy-Wa... OMIM:614643
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Cockayne Syndrome Type 3
Stroke, Subdural hemorrhage, Premature coronary artery atherosclerosis, Retinal hemorrhage, Diffi... ORPHA:90324
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Difficulty walking, Arterial r... ORPHA:536545
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Fg Syndrome Type 1
Broad-based gait, Hydrocephalus, Coarctation of aorta, Ventriculomegaly, Pulmonary arterial hyper... ORPHA:93932
47,Xyy Syndrome
Increased circulating gonadotropin level, Hydrocephalus ORPHA:8
Tetrasomy 5P
Hydrocephalus, Pulmonary arterial hypertension, Congestive heart failure, Heart murmur ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Encephalocele OMIM:613150
Vici Syndrome
Abnormal posturing, Agenesis of corpus callosum, Dilated cardiomyopathy, Cardiomyopathy, Congesti... OMIM:242840
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Popov-Chang syndrome
Pulmonic stenosis, Hypertension, Hydrocephalus OMIM:618428
Isotretinoin-Like Syndrome
Hydrocephalus, Aortic valve stenosis, Abnormal aortic arch morphology, Patent ductus arteriosus, ... ORPHA:2306
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Increased CSF lactate, Prolonged prothrombin time OMIM:619055
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Waddling gait, Hydranencephaly ORPHA:2839
Meningioma
Hydrocephalus, Ataxia, Cerebral hemorrhage, Syncope, Difficulty walking ORPHA:2495
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ataxia ORPHA:2720
Proteus-Like Syndrome
Hydrocephalus, Venous insufficiency, Communicating hydrocephalus ORPHA:2969
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Intracranial hemorrhage,... ORPHA:3260
Acute Transverse Myelitis
CSF pleocytosis, Orthostatic hypotension, Hypoglycorrhachia, Subarachnoid hemorrhage, Gait distur... ORPHA:139417
Monosomy 18Q
Hydrocephalus, Aortic valve stenosis, Left aortic arch with right descending aorta and right duct... ORPHA:1600
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy, Overridin... OMIM:309801
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Mitral stenosis, Carotid artery occlusion, Stroke, Aortic valve stenosis, Raynau... ORPHA:740
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Bruising susceptibility, Lateral ventricular asymmetry, Aortic root aneurysm, Hype... OMIM:616914
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Lowry-Maclean Syndrome
Hydrocephalus, Coarctation of aorta ORPHA:2409
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Desmosterolosis
Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary venous return, ... OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Pulmonic stenosis, Dilated cardiomyopathy, Transposition of the... OMIM:253800
Desmosterolosis
Hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Ventriculomegaly, Age... ORPHA:35107
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Coarctation of aorta, Encephalocele, Agenesis of corpus callosum OMIM:264480
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Arteriosclerosis, Ataxia ORPHA:220295
Alexander Disease
Hydrocephalus, Ataxia, Aqueductal stenosis, Sudden cardiac death, Hypotension, Gait disturbance, ... ORPHA:58
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Hellp Syndrome
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension ORPHA:244242
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Dpagt1-Cdg
Akinesia, Ataxia, Inability to walk, Intracranial hemorrhage, Prolonged QT interval, Stroke-like ... ORPHA:86309
Dextrocardia
Abnormal EKG, Hydrocephalus, Congenital malformation of the great arteries, T-wave inversion ORPHA:1666
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Patent ductus arteriosus, Bruising susceptibility OMIM:618162
Trisomy 17P
Aortic valve stenosis, Hydrocephalus, Patent ductus arteriosus ORPHA:261290
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Ataxia, Gait disturbance, Portal hypertension, Occipital encephalocele ORPHA:1454
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Alobar holoprosencephaly, Patent ductus arteriosus, Semilobar holo... OMIM:301043
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery s... ORPHA:261552
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery s... ORPHA:261537
Distal Tetrasomy 15Q
Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation ORPHA:314588
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Joubert Syndrome 2
Hydrocephalus, Ataxia, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Arrhythmia, Agenesis of corpus callosum, Ventriculomegaly, Heart block, Cardiomyop... ORPHA:228308
Riddle Syndrome
Ataxia, Intraventricular hemorrhage, Conjunctival telangiectasia, Gait disturbance, Telangiectasia ORPHA:420741
Acute Liver Failure
Ataxia, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Shock, ... ORPHA:90062
Achondroplasia
Hydrocephalus ORPHA:15
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Athetosis OMIM:239300
Gaucher Disease, Type Iiic
Mitral stenosis, Hydrocephalus, Calcification of the aorta OMIM:231005
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Agenesis of corpus callosum, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Agenesis of corpus callosum, Ventr... ORPHA:363958
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, Retinal hemorrhage, Retinal arter... OMIM:175780
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus, Colpocephaly, Tricuspid regurgitation OMIM:618460
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Inability to walk, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral re... ORPHA:505248
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Right bundle branch block OMIM:618590
15Q Overgrowth Syndrome
Hydrocephalus, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Cardiomyopathy, Communicating hydrocephalus OMIM:616084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Ventriculomegaly, Meningoencephalocele, Occipital encephalocele, Agenesis of corpu... OMIM:236670
Vacterl With Hydrocephalus
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Thakker-Donnai Syndrome
Transposition of the great arteries, Tetralogy of Fallot, Agenesis of corpus callosum, Communicat... ORPHA:1780
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Arrhythmia, Agenesis of corpus callosum ORPHA:157
7Q11.23 Microduplication Syndrome
Hydrocephalus, Aortic valve stenosis, Dysmetria, Patent ductus arteriosus, Ventriculomegaly, Unst... ORPHA:96121