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Gene: Arl6 MGI:1927136

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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:
ADP-ribosylation factor-like 6
Synonyms:
1110018H24Rik,  BBS3,  2210411E14Rik

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 Arl6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Arl6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:300864
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Optic atrophy, Ventriculomegaly, Retinal dysplasia, Dandy-Wal... OMIM:613154
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly ORPHA:2185
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Frontal encephalocele, Arrhinencephaly, Optic atrophy, Septo-opt... ORPHA:1528
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Attrv30M Amyloidosis
Impotence, Abnormal autonomic nervous system physiology, Arrhythmia, Vitreous floaters, Cardiomyo... ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Primary amenorrhea, Tachycardia, Opti... OMIM:619737
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Ventriculomegaly, Abnormal autonomic nerv... ORPHA:97355
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Optic disc pal... ORPHA:97229
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Ventriculomegaly OMIM:614830
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy... OMIM:614498
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hydrocephalus, Elbow flexion contracture OMIM:619470
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hydrocephalus, Flexion contracture OMIM:300884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Retinal dysplasia, Anencephaly, Optic nerve dysplasia, Ventriculomegal... OMIM:615287
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Abnormal autonomic nervous system physiology, Micropenis, Flexion contracture, Tachycardia, Hyper... OMIM:613870
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Optic atrophy, Retinal vascular tortuosity, Ventricular preex... ORPHA:104
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Optic atrophy, Dilated cardiomyopath... ORPHA:272
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:619111
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Aganglionic megacolon OMIM:304100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Retinal dysplasia, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... ORPHA:1344
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy, Wormian bones ORPHA:2773
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... ORPHA:101016
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension, Abnormal autonomic nervous system physiology OMIM:156310
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hydrocephalus, Supraventricular tachycardia, Tachycardia, Junctio... ORPHA:137675
Fried Syndrome
Hydrocephalus, Abnormality of the optic nerve ORPHA:85335
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Diencephalic Syndrome
Optic atrophy, Hydrocephalus, Long penis ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Hypospadias, Del... OMIM:175700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis, Craniosynostosis OMIM:148800
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Cryptorchidism OMIM:601794
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Hydrocephalus, Occipital encephalocele ORPHA:352682
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic... OMIM:105210
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Multiple joint contractures, Ventriculomegaly, Abnormal autonomic nervous system p... ORPHA:466934
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias, Arthrogryposis multiplex congenita, Hip dislocation, Cryptorchidism ORPHA:250994
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Abnormal autonomic nervous system physiology, Arrhythmia, Ambiguous genitali... ORPHA:168593
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Obesity Due To Sim1 Deficiency
Hypotension, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory... ORPHA:369873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Retinal detachment, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walker ma... OMIM:613153
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Tachycardia, Retinal degeneration ORPHA:79264
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Craniosynostosis, Umbilical hernia, Agenesis of c... ORPHA:380
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Multiple System Atrophy
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... ORPHA:102
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... ORPHA:85451
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Unilambdoid synostosis, Ulnar deviation of the wrist, Ventriculomegaly, Hypoplasti... OMIM:618577
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Flexion contracture, Ventriculomegaly, Abnormal autonomic nervous system physiology OMIM:616683
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Potocki-Shaffer syndrome
Delayed cranial suture closure, Abnormality of the male genitalia DECIPHER:34
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Wild Type Attr Amyloidosis
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:330001
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Wormian bones ORPHA:2787
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... ORPHA:98933
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Variegate Porphyria
Tachycardia OMIM:176200
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Hao-Fountain Syndrome
Delayed cranial suture closure, Cryptorchidism, Large fontanelles, Micropenis OMIM:616863
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Spina bifida occulta, Bicoronal synostosis, Delayed closure of the anteri... OMIM:618736
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Tetanus
Abnormal autonomic nervous system physiology, Tachycardia, Autonomic bladder dysfunction, Hyperte... ORPHA:3299
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Lissencephaly 5
Optic atrophy, Hydrocephalus, Occipital encephalocele OMIM:615191
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Ventriculomegaly ORPHA:858
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hydrocephalus, Flexion contracture, Increased laxity of ankles ORPHA:99947
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Tachycardia, Epis... OMIM:171420
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... ORPHA:227510
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Dilated fourth ventricle, Optic atroph... ORPHA:370959
Posttransplant Acute Limbic Encephalitis
Hyperglycorrhachia, Abnormal autonomic nervous system physiology, CSF polymorphonuclear pleocytos... ORPHA:163921
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Beare-Stevenson Cutis Gyrata Syndrome
Prominent scrotal raphe, Hydrocephalus, Bifid scrotum, Craniosynostosis, Limited elbow extension,... OMIM:123790
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Chorioretinal atrophy, Dilated fourth ventricle, Dandy-Walk... OMIM:220220
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Optic Pathway Glioma
Optic atrophy, Precocious puberty, Hydrocephalus, Papilledema ORPHA:2086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly OMIM:615219
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Walker-Warburg Syndrome
Hydrocephalus, Hypoplasia of penis, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Opt... ORPHA:899
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormal autonomic nervous system physiology, Optic nerve hypoplas... ORPHA:300570
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Hip dislocation, Agenesis o... OMIM:109120
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus, Omphalocele OMIM:258320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Retinal detachment, Optic atrophy, Distal arthrogryposis, Ventriculomegaly, Colpoc... OMIM:619833
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618476
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Pettigrew Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Alexander Disease
Hydrocephalus, Precocious puberty, Aqueductal stenosis, Abnormal autonomic nervous system physiol... ORPHA:58
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Palpitations, Arrhythmia, ST segment elevation, T-wave inversion,... ORPHA:263297
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Hypoplasia of the uterus, Congenital diaphragmatic hernia, Micropenis, Hy... OMIM:309801
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Cubitus valgus ORPHA:2183
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Retinal detachment OMIM:615181
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Krabbe Disease
Optic atrophy, Hydrocephalus, Decreased nerve conduction velocity, Increased CSF protein OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture, Agenesis of corpus callosum, Retinal degeneration OMIM:615249
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosu... OMIM:225790
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Cardiac arrest, Agenes... OMIM:300952
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Retinal dystrophy, Optic atrophy, Cardiac arrest, Congestive heart... ORPHA:49827
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Pure Autonomic Failure
Orthostatic hypotension, Impotence, Abnormal autonomic nervous system physiology, Syncope ORPHA:441
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Umbilical hernia, Craniosynostosis ORPHA:1516
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Arrhythmia, Cerebral ischemia, Optic atrophy, Ventricu... ORPHA:60040
Renal Nutcracker Syndrome
Infertility, Dyspareunia, Dysmenorrhea, Abnormal autonomic nervous system physiology, Orthostatic... ORPHA:71273
Achondroplasia
Hydrocephalus, Genu varum, Limited elbow extension OMIM:100800
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hydrocephalus, Hypospadias, Hypogonadism ORPHA:141333
1Q44 Microdeletion Syndrome
Hydrocephalus, Prominent metopic ridge, Optic disc hypoplasia, Ventriculomegaly, Agenesis of corp... ORPHA:238769
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Increased CSF lactate, Abnormal autonomic nervous system physiology, Retinopath... ORPHA:478029
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Inguinal hernia OMIM:261550
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Abnormality of retinal pigmentation, Tricuspid regurgitation, Flexion contracture,... ORPHA:505248
Joubert Syndrome 14
Hydrocephalus, Morning glory anomaly, Hypertension, Encephalocele, Dandy-Walker malformation OMIM:614424
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly, Abnormal autonomic nervous system physiology OMIM:617903
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Chorioretinal coloboma ORPHA:163961
Albers-Schönberg Osteopetrosis
Hydrocephalus, Joint dislocation, Osteoarthritis, Arthritis, Optic atrophy, Genu valgum, Facial p... ORPHA:53
47,Xyy Syndrome
Hydrocephalus, Congenital stationary night blindness, Micropenis, Hypospadias, Oligospermia, Vari... ORPHA:8
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta OMIM:182940
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure, Macroorchidism OMIM:300886
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Central Precocious Puberty
Premature thelarche, Hydrocephalus, Isosexual precocious puberty, Hypothalamic hamartoma ORPHA:759
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... OMIM:169500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Micropenis, Hypospadias, Radioulnar synostosis, Umbilical hernia... ORPHA:171839
Nephronophthisis 18
Hydrocephalus, Retinitis OMIM:615862
Muscle-Eye-Brain Disease
Optic atrophy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Crouzon Syndrome
Optic atrophy, Multiple suture craniosynostosis, Hydrocephalus ORPHA:207
Hec Syndrome
Abnormal retinal vascular morphology, Arrhythmia, Communicating hydrocephalus, Vaginal hydrocele,... ORPHA:2119
Acalvaria
Hydrocephalus, Spina bifida, Omphalocele, Holoprosencephaly ORPHA:945
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Myotonic Dystrophy 2
Premature ventricular contraction, Palpitations, Oligospermia, Tachycardia, Right bundle branch b... OMIM:602668
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Flexion contracture, Holoprosencephaly, Pulmonic stenosis, Retinal detachment, Ret... OMIM:253800
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Fabry Disease
Angina pectoris, Abnormal autonomic nervous system physiology, Arrhythmia, Myocardial infarction,... OMIM:301500
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, Autosomal Dominant 36
Prominent metopic ridge, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Genu valgum, Ventriculomegaly, Retinal degeneration OMIM:615630
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachmen... OMIM:614643
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Flexion contracture, Abnormal autonomi... ORPHA:35069
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:243180
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypospadias, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum OMIM:218350
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Hypospadias, Hydrocephalus OMIM:249630
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Congenital Sialidosis Type 2
Hydrocephalus, Cherry red spot of the macula, Inguinal hernia, Yellow/white lesions of the retina... ORPHA:93400
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Temple Syndrome
Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size OMIM:616222
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Shoulder dislocation, Umbilical hernia, Aortic regurgitation ORPHA:2181
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Retinal coloboma, Retinal dystrophy, Encephalocele, Agenesi... ORPHA:220493
Cerebral Visual Impairment
Hydrocephalus, Increased cup-to-disc ratio, Optic nerve hypoplasia, Intracranial hemorrhage, Opti... ORPHA:447788
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism ORPHA:447896
Apert Syndrome
Hydrocephalus, Ovarian neoplasm, Hypertension, Optic atrophy, Ventriculomegaly, Large fontanelles... ORPHA:87
3C Syndrome
Abnormality of the fontanelles or cranial sutures, Hydrocephalus, Aortic valve stenosis, Hypoplas... ORPHA:7
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Increased CSF protein, Abnormal autonomic nervous system physiology ORPHA:282166
Pallister-Hall-Like Syndrome
Hydrocephalus, Hypothalamic hamartoma, Micropenis, Hip dislocation, Occipital encephalocele OMIM:241800
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Bresek Syndrome
Hydrocephalus, Optic nerve hypoplasia, Decreased testicular size, Cryptorchidism, Aganglionic meg... ORPHA:85284
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hydrocephalus ORPHA:93262
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Al Amyloidosis
Autonomic erectile dysfunction, Abnormal P wave, Abnormal autonomic nervous system physiology, Ja... ORPHA:85443
Machado-Joseph Disease
Dilated fourth ventricle, Abnormal autonomic nervous system physiology OMIM:109150
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature thelarche, Prolonged QTc interval, Optic atrophy, Premature pubarch... OMIM:616878
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Porphyria Variegata
Hypertension, Scarring, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:79473
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Decreased nerve conduction velocity, Congenital foot contractures, Ankle c... ORPHA:565624
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Tachycardia, Epis... OMIM:171300
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Retinal detachment, Isosexual precocious puberty, Wormian bones, Abn... ORPHA:2788
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Hydrocephalus, Myelomeningocele ORPHA:1914
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Pulmonic stenosis, Abnormality of the elbow, Cryptorchidism, Hypertrophic cardiomy... ORPHA:2701
Craniosynostosis 6
Craniosynostosis, Delayed cranial suture closure, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, ST segment depression, Hyperglycorrhac... ORPHA:90065
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Prominent scrotal raphe, Hydrocephalus, Bifid scrotum, Craniosynostosis, Optic atrophy, Umbilical... ORPHA:1555
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Aortic valve stenosis, Inguinal hernia, Camptodactyly, Sagittal craniosynostosis, ... ORPHA:459061
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Hernia, Ventriculomegaly OMIM:602501
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Pigmentary retinopathy, Umbilical hernia, Telangiectasia, Agenesis of corpus callo... OMIM:612582
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Abnormal autonomic nervous system physiology ORPHA:83601
Emanuel Syndrome
Infertility, Hydrocephalus, Multiple joint contractures, Aortic valve stenosis, Congenital diaphr... ORPHA:96170
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Male infertility, C... OMIM:614874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Retinal dysplasia, Meningoencephalocel... OMIM:236670
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus ORPHA:83473
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Proteus-Like Syndrome
Hydrocephalus, Genu recurvatum, Retinal detachment, Communicating hydrocephalus, Shagreen patch, ... ORPHA:2969
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Serotonin Syndrome
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Hypotension ORPHA:43116
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Flexion contracture, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Chromosome 17P13.1 Deletion Syndrome
Ankle clonus, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture OMIM:613776
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... ORPHA:542323
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Optic atrophy, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Agenesis of... ORPHA:3301
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis OMIM:615599
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
6P22 Microdeletion Syndrome
Hydrocephalus, Hernia ORPHA:251046
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Abnormal adipose tissue morphology ORPHA:2770
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Adult-Onset Autosomal Dominant Leukodystrophy
Impotence, Abnormal autonomic nervous system physiology, Flexion contracture, Orthostatic hypoten... ORPHA:99027
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Inguinal hernia, Congenital hip dislocation, Wormian bones, Large fontanelles, Age... OMIM:612940
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, Delayed cranial suture closure, Optic atrophy, Extra-axial cerebrospinal flu... OMIM:619383
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Aganglionic megacolon OMIM:613603
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Trisomy 1Q
Hydrocephalus, Congenital diaphragmatic hernia, Camptodactyly of finger, Ambiguous genitalia, Ven... ORPHA:261344
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... ORPHA:860
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Infantile Sialic Acid Storage Disease
Hydrocephalus, Congestive heart failure OMIM:269920
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms, Immotile cilia OMIM:618801
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Inguinal hernia, Optic nerve hypoplasia, Prominent metopic ridge, Ventriculomegaly... ORPHA:457284
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Hydrocephalus, Abnormality of retinal ... ORPHA:585
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Dysplastic corpus callosum, Inguinal hernia, Delayed cranial suture closu... ORPHA:357058
Trisomy 20P
Abnormal autonomic nervous system physiology, Inguinal hernia, Hypospadias, Camptodactyly of fing... ORPHA:261318
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Fg Syndrome Type 1
Hydrocephalus, Widely patent fontanelles and sutures, Inguinal hernia, Craniosynostosis, Optic ne... ORPHA:93932
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Focal Facial Dermal Dysplasia Type Iv
Scarring, Hydrocephalus, Intracranial hemorrhage ORPHA:398189
Insensitivity To Pain, Congenital, With Anhidrosis
Neuropathic arthropathy, Abnormal autonomic nervous system physiology, Corneal scarring, Postural... OMIM:256800
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:231550
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Ventriculomegaly ORPHA:348
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Tachycardia ORPHA:485405
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Abnormality of retinal pigmentation, Flexion contracture, Inguinal hernia, Papille... OMIM:309900
Tularemia
Tachycardia ORPHA:3392
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Acute Transverse Myelitis
Priapism, Abnormal autonomic nervous system physiology, CSF pleocytosis, Orthostatic hypotension,... ORPHA:139417
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy OMIM:207950
Mend Syndrome
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Prolonged PR in... ORPHA:542306
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Tachycardia, Internal hemorrhage, Decreased testicular size ORPHA:335
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Hereditary Coproporphyria
Atypical scarring of skin, Tachycardia ORPHA:79273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Orthostatic hypotension, Tachycardia, Hypertension OMIM:223900
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Craniosynostosis, Facial paralysis, Optic atrophy, Facial palsy OMIM:259700
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... ORPHA:26793
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Tachycardia, Ventriculomegaly OMIM:618321
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Primary Ciliary Dyskinesia
Hydrocephalus, Female infertility, Rod-cone dystrophy, Male infertility, Ventriculomegaly, Abnorm... ORPHA:244
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Retinal detachment, Abnormality of the elbow, Flat acetabular roof, Abnor... ORPHA:163649
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Ethylene Glycol Poisoning
Facial palsy, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... ORPHA:31826
Neuroleptic Malignant Syndrome
Abnormal autonomic nervous system physiology, Tachycardia, Arrhythmia, Pulmonary embolism, Hypote... ORPHA:94093
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Hydrocephalus OMIM:600991
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Cryptorchidism, Flexion contracture, Facial palsy, Dandy-Walker malformation OMIM:310400
Hemangioblastoma
Hydrocephalus, Retinal capillary hemangioma ORPHA:252054
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Pelvis-Shoulder Dysplasia
Dislocated radial head, Hydrocephalus, Retinal coloboma, Camptodactyly of finger, Hydranencephaly... ORPHA:2839
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Pulmonary arterial hypertension, Wide anterior fontanel, Congestive heart failure OMIM:616482
Wolfram Syndrome
Abnormal autonomic nervous system physiology, Optic atrophy, Male hypogonadism, Hypogonadism, Gas... ORPHA:3463
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Retinal dystrophy, Ambiguous genitalia, Clitoral hypertrophy, Chorioretinal dyspla... ORPHA:2556
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Tachycardia, Lipodystrophy, Atrial fibrillation, Prolonged QT interval, Brad... OMIM:613327
Sturge-Weber Syndrome
Hydrocephalus, Abnormal retinal vascular morphology, Retinal detachment, Conjunctival telangiecta... ORPHA:3205
Joubert Syndrome 2
Hydrocephalus, Retinal dystrophy, Optic disc coloboma, Enlarged fossa interpeduncularis, Metopic ... OMIM:608091
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Retinal degeneration, Increased CSF protein OMIM:272200
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Septo-optic dysplasia, Ventriculomegaly, Aganglionic me... ORPHA:59315
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Large fontanelles ORPHA:1832
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Retinal dystrophy, Encephalocele, Aganglionic megacolon, Chorioretinal coloboma ORPHA:2318
Intellectual Developmental Disorder, Autosomal Dominant 65
Prominent metopic ridge, Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Hydrocephalus, Congenital st... ORPHA:314585
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hydrocephalus, Enamel hypoplasia, Ventriculomegaly OMIM:614576
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormal fallopian tube morphology, Cryptorchidism, ... ORPHA:2189
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Bradycardia, Umbilical hernia, Large posterior fontanelle ORPHA:95717
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio... ORPHA:247234
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Neonatal Lupus Erythematosus
Hydrocephalus, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomy... ORPHA:398124
Bacterial Toxic-Shock Syndrome
Cellulitis, Tachycardia, Myocarditis, Arthritis, Hypotension, Shock, Fasciitis, Capillary leak, S... ORPHA:36234
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Triploidy
Abnormality of the fontanelles or cranial sutures, Hydrocephalus, Hypoplasia of penis, Holoprosen... ORPHA:3376
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Peho Syndrome
Hydrocephalus, Flexion contracture, Optic atrophy, Ventriculomegaly, Arthrogryposis multiplex con... ORPHA:2836
Mucopolysaccharidosis Type 1
Hydrocephalus, Joint dislocation, Inguinal hernia, Retinopathy, Optic atrophy, Hernia, Hypertroph... ORPHA:579
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hydrocephalus, Lipoatrophy, Craniosynostosis, Generalized li... OMIM:616914
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma, Cryptorchidi... OMIM:613001
Craniopharyngioma
Hydrocephalus, Abnormal hypothalamus morphology, Papilledema, Hypogonadotropic hypogonadism, Cere... ORPHA:54595
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Micropenis, Optic atrophy, Ambiguous genitalia, Ventriculomegaly, Cryptorchidism OMIM:614969
Joubert Syndrome With Renal Defect
Hydrocephalus, Agenesis of corpus callosum, Aganglionic megacolon, Encephalocele ORPHA:220497
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Delayed cranial suture closure, Camptodactyly of finger, Arrhythmia, ... ORPHA:2135
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Graft Versus Host Disease
Dupuytren contracture, Tachycardia, Limited elbow movement, Arthritis, Lipodystrophy, Fasciitis, ... ORPHA:39812
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Epididymitis, Bundle branch... ORPHA:99827
Hurler Syndrome
Angina pectoris, Hydrocephalus, Retinopathy, Camptodactyly of finger, Hernia, Abnormality of the ... ORPHA:93473
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Hurler Syndrome
Hydrocephalus, Retinal degeneration, Flexion contracture, Inguinal hernia, Mitral regurgitation, ... OMIM:607014
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Cryptorchidism, Agenesis of c... ORPHA:77298
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Premature thelarche, Arthritis, Carpal osteolysis, Sclerotic cranial sutures, Pteryg... ORPHA:371428
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Young-Onset Parkinson Disease
Female sexual dysfunction, Male sexual dysfunction, Abnormal autonomic nervous system physiology ORPHA:2828
Temple Syndrome
Cryptorchidism, Precocious puberty, Hydrocephalus ORPHA:254516
Dural Sinus Malformation
Hydrocephalus, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Papilledema, Intr... ORPHA:97339
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Hydrocephalus, Impotence, Ovarian cyst, Oligospermia, Abnormality of the... ORPHA:91348
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Impotence, Hypertension, Abnormal autonomic nervous system physiology ORPHA:93256
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Ogden Syndrome
Inguinal hernia, Delayed cranial suture closure, Arrhythmia, Cardiogenic shock, Ventriculomegaly,... ORPHA:276432
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dislocated radial head, Hydrocephalus, Aqueductal stenosis, Prominent metopic ridge, Congenital h... OMIM:619512
Cole-Carpenter Syndrome 2
Hydrocephalus, Dentinogenesis imperfecta, Coronal craniosynostosis, Wormian bones, Lambdoidal cra... OMIM:616294
Thanatophoric Dysplasia
Hydrocephalus, Abnormal sacroiliac joint morphology, Ventriculomegaly ORPHA:2655
Scorpion Envenomation
Bundle branch block, Priapism, Premature ventricular contraction, ST segment depression, Tachycar... ORPHA:466677
Hydrocephalus With Associated Malformations
Hydrocephalus, Omphalocele OMIM:236640
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Vertebral fusion ORPHA:377
Fanconi Anemia, Complementation Group B
Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Ventriculomegaly, Optic disc hypoplasi... OMIM:300514
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Increased adipose tissue around... ORPHA:280365
Lowry-Maclean Syndrome
Widely patent coronal suture, Hydrocephalus, Congenital diaphragmatic hernia, Inguinal hernia, Cr... ORPHA:2409
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Male infertility, Absent outer dynein arms OMIM:612444
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Congestive heart failure, Pericarditis ORPHA:163596
Coccidioidomycosis
Hydrocephalus, CSF pleocytosis, Hypoglycorrhachia, Abnormality of the male genitalia, Vasculitis,... ORPHA:228123
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Normal pressure hydrocephalus, Decreased ne... OMIM:216400
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Hypospadias, Dandy-Walker malformation OMIM:220210
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Whipple Disease
Hydrocephalus, Myocarditis, Arthritis, Hypotension, Myocardial infarction, Erectile dysfunction, ... ORPHA:3452
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Ramos-Arroyo Syndrome
Abnormal autonomic nervous system physiology, Absent retinal pigment epithelium, Chorioretinal at... ORPHA:1051
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Hypoplasia of penis, Inguinal hernia, Ventriculomegaly, Cryptorchidism, Agenesis o... ORPHA:1812
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Male infertility, Ciliary dyskinesi... OMIM:614935
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Wide anterior fontanel, Flexion contracture, Coronal craniosynostosis, Fused labia... OMIM:207410
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly, Retinal dystrophy OMIM:616538
Sepsis In Premature Infants
Tachycardia, Abnormality of the anterior fontanelle, Hypotension, Bradycardia ORPHA:90051
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Muenke Syndrome
Coronal craniosynostosis, Carpal synostosis, Hydrocephalus, Tarsal synostosis ORPHA:53271
Apert Syndrome
Hydrocephalus, Cervical C5/C6 vertebrae fusion, Craniosynostosis, Coronal craniosynostosis, Delay... OMIM:101200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Tenorio Syndrome
Hydrocephalus, Raynaud phenomenon, Delayed cranial suture closure, Syncope, Ventriculomegaly OMIM:616260
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Hydrocephalus, Orbital craniosynostosis, Communicating hydrocephalus OMIM:112240
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Impotence, Abnormal autonomic nervous system physiology OMIM:146500
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly OMIM:616355
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Large fontanelles, External genital hypoplasia, Cryptorchidism, Elbow ankylosis, A...