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Gene: Nme5 MGI:1922783

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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:
NME/NM23 family member 5
Synonyms:
non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase),  Nm23-M5,  1700019D05Rik

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 Nme5 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 associated to Nme5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Ventriculomegaly, Female infertility, Productive... ORPHA:244
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032

The table below shows human diseases predicted to be associated to Nme5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:612650
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:616481
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Immotile spe... OMIM:242670
Familial Afibrinogenemia
Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... OMIM:613807
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hyperte... ORPHA:280679
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent... OMIM:614679
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Wheezing, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... OMIM:612518
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o... OMIM:615500
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic... OMIM:612649
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil... OMIM:606763
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media OMIM:312863
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Mandibular prognathia, Intraventricular hemorrhage, Hydrocephalus, Hydrocele t... OMIM:613603
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Pneumonia, Absent frontal sinuses, Absent outer dy... OMIM:244400
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Ascending tubular aorta aneurysm, Otitis media, Macroorchidism,... ORPHA:908
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... OMIM:618801
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis OMIM:253240
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... ORPHA:326
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... OMIM:615505
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Ventriculomegaly, Female infertility, Productive... ORPHA:244
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:300991
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode,... OMIM:300845
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm flagella, Chronic co... OMIM:620197
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitr... OMIM:616037
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Ventriculomegaly, Aspiration pneumonia OMIM:616430
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent... ORPHA:420741
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Absent inner and out... OMIM:615444
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis OMIM:619607
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias ORPHA:250994
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, R... OMIM:614935
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Otitis media OMIM:300455
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... ORPHA:70593
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a... ORPHA:98879
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Micrognathia ORPHA:1538
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent upper respiratory... ORPHA:277
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Dengue Fever
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest,... ORPHA:99828
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Ventriculomegaly, Cerebral hemorrhage, Patent ductus arterio... OMIM:617397
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Central Precocious Puberty In Male
Hydrocephalus, Acne, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Reduced progressive sperm ... OMIM:619608
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus OMIM:300886
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Eczema, Testicular neoplasm, Tracheomalacia, Precocious puberty, Cryptorchidism, Int... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Eczema, Testicular neoplasm, Tracheomalacia, Precocious puberty, Cryptorchidism, Int... ORPHA:363958
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchial breath sound, ... ORPHA:449280
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Ciliary Dyskinesia, Primary, 37
Female infertility, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinorrhea OMIM:617577
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Intraventricular hemorrhage, Skin rash ORPHA:79284
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea OMIM:133100
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Chronic sinusitis, Bronchiectasis OMIM:604571
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis ORPHA:1008
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Yellow Nail Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Hypoplasia of lymphatic vessels, Cough, Pulmonary a... ORPHA:662
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis OMIM:612692
Lig4 Syndrome
Psoriasiform dermatitis, Cryptorchidism, Asthma, Telangiectasia, Micropenis, Chronic sinusitis, A... OMIM:606593
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas... ORPHA:727
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus OMIM:166990
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... ORPHA:906
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh... ORPHA:183
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Recurrent ot... OMIM:307200
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Arrhyt... ORPHA:2119
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Immunodeficiency 102
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren... OMIM:301082
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermi... ORPHA:8
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate OMIM:619055
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi... ORPHA:99147
Hemidystonia-Hemiatrophy Syndrome
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology ORPHA:306741
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art... ORPHA:47612
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys... OMIM:616726
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... OMIM:243700
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali... ORPHA:36234
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... OMIM:617053
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Respiratory insufficiency... ORPHA:3099
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Respiratory insufficiency, Ambiguous g... ORPHA:1237
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Microretrognathia, Hydrocephalus OMIM:300884
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension OMIM:618886
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly OMIM:618577
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormal fallopian tube morphology, Nephritis, I... ORPHA:2552
Whim Syndrome
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recu... ORPHA:51636
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Panuveitis, Panniculitis, Optic neuritis OMIM:301081
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Skin rash ORPHA:26
Granulomatosis With Polyangiitis
Episcleritis, Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p... OMIM:608710
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... ORPHA:90068
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, Malar flattening OMIM:242860
Cyclic Neutropenia
Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ... ORPHA:2686
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Dentinogenesis imperfecta OMIM:616507
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Malar flattening, Ventricul... OMIM:218350
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Laryngomalaci... ORPHA:171839
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... OMIM:608644
Immunodeficiency 32B
Pneumonia, Sinusitis, Bronchiectasis OMIM:226990
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstruction, Vasculitis, ... ORPHA:900
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Choanal Atresia
Respiratory distress, Subglottic stenosis, Upper airway obstruction, Laryngomalacia, Tracheomalac... ORPHA:137914
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Williams-Beuren Region Duplication Syndrome
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Chronic otitis media, Vent... OMIM:609757
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Micrognathia, Respiratory insufficiency due to muscle weakness, Subdural hemorrhag... OMIM:618291
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Acne, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia,... ORPHA:90795
Temple Syndrome
Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Recurrent otitis media, Decrease... OMIM:616222
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Diabetic Embryopathy
Micrognathia, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Abnormal aor... ORPHA:1926
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Mandibular prognathia, Cerebral hemorrhage, Subdural hemorrhage, Respirator... OMIM:620278
Juvenile Temporal Arteritis
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia ORPHA:26137
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis OMIM:603165
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... ORPHA:228119
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis m... OMIM:613179
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Ventriculomegaly, Apnea, Dilated cardiomyopathy, Respiratory insuf... OMIM:608836
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus ORPHA:254516
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Emanuel Syndrome
Broad jaw, Ventriculomegaly, Truncus arteriosus, Delayed eruption of primary teeth, Micrognathia,... OMIM:609029
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... ORPHA:443811
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, Respiratory insufficiency, CSF lymphocytic pleiocytosis OMIM:610333
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes in infancy, Re... ORPHA:163961
Kleeblattschaedel
Hydrocephalus OMIM:148800
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydro... OMIM:220220
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Infectious encephalitis, Ventric... ORPHA:2481
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Coccidioidomycosis
Respiratory distress, Cough, Morbilliform rash, Abnormality of the male genitalia, Abnormality of... ORPHA:228123
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:175700
H Syndrome
Psoriasiform dermatitis, Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system phy... ORPHA:168569
Gorlin Syndrome
Mandibular prognathia, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Hydrocephalus ORPHA:377
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Cystic Fibrosis
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... OMIM:219700
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Hydrocep... ORPHA:3452
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Hydrolethalus
Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Laryngomalacia, Abnormal fallopian tube... ORPHA:2189
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Congestive heart failure, Hydrocephalus, Cough, Chronic otitis media, Hypertrop... ORPHA:579
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Respiratory failure, Chronic otitis media, Brui... ORPHA:3226
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Eosinophilopenia
Allergic rhinitis OMIM:131430
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Fried Syndrome
Hydrocephalus ORPHA:85335
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus, Micrognathia ORPHA:1516
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Female hypogonadism, Bronchiectasis, Abnormal spermatogen... OMIM:208900
Chronic Granulomatous Disease
Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye ORPHA:379
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Triploidy
Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Holop... ORPHA:3376
Good Syndrome
Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough ORPHA:169105
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Igg4-Related Pachymeningitis
Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Dyspnea,... ORPHA:449427
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Premature ovarian insufficiency, Micrognathia, Malar prom... OMIM:251260
Immunodeficiency 20
Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract infections, Recurrent s... OMIM:615707
Ritscher-Schinzel Syndrome 1
Hypospadias, Micrognathia, Hydrocephalus, Double outlet right ventricle, Pulmonic stenosis, Aorti... OMIM:220210
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia, Recurrent pneumonia, Bronchiectas... OMIM:618282
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism, Hydroc... ORPHA:91350
Meningioma
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Progressive pulmonary function impairment, Hy... ORPHA:2495
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Malar flattening, Inflammato... ORPHA:93262
Mucopolysaccharidosis Type 6
Chronic otitis media, Sinusitis, Recurrent upper respiratory tract infections ORPHA:583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holopr... ORPHA:77298
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertrophic cardiomyopathy, Retrognathi... OMIM:612938
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Malar flattenin... OMIM:614424
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micropenis, Hydrocephalus, Micrognathia OMIM:241800
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Truncus arteriosus, Micrognathia, Cryptor... ORPHA:96170
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Dyspnea, Abnormal lymphatic vess... ORPHA:464329
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia... OMIM:616576
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Inflammatory abn... ORPHA:238468
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Propionic Acidemia
Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis OMIM:606054
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrhage ORPHA:244242
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Respiratory insufficiency, Holoprosenceph... ORPHA:93274
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dys... ORPHA:2075
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus OMIM:601499
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car... OMIM:259710
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Infectious encephalitis, Ischemic stroke ORPHA:447788
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Micrognathia OMIM:614120
Ciliary Dyskinesia, Primary, 20
Productive cough, Absent outer dynein arms, Pulmonary artery stenosis, Recurrent pneumonia, Bronc... OMIM:615067
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Skin rash, Abnormality of the menstrual cycle... ORPHA:330015
Coach Syndrome 2
Hypertension, Hydrocephalus, Apneic episodes in infancy OMIM:619111
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, ... ORPHA:163979
Osteogenesis Imperfecta
Aortic regurgitation, Delayed eruption of teeth, Neonatal respiratory distress, Abnormality of de... ORPHA:666
Hurler-Scheie Syndrome
Cardiomyopathy, Rhinitis ORPHA:93476
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Micrognathia, Chronic pu... ORPHA:125
Pontocerebellar Hypoplasia, Type 7
Apnea, Micrognathia, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculome... OMIM:614969
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Retrograde ejaculation, Rhinitis, Orthostatic syn... ORPHA:230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Respiratory insufficiency OMIM:613153
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Recurrent sinusitis, C... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... OMIM:102700
Lowry-Maclean Syndrome
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Hypoplasi... ORPHA:2409
Amoebiasis Due To Free-Living Amoebae
Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog... ORPHA:68
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Trisomy 1Q
Microretrognathia, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ambigu... ORPHA:261344
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Cryptorchidism, Hydrocephalus, Hypertension, Hypoplasia of t... ORPHA:1555
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... ORPHA:99827
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... ORPHA:340
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Micrognathia, Cryptorchidism, Hydrocephalus, Micropenis OMIM:619951
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Paroxysmal Hemicrania
Hypertension, Rhinitis, Rhinorrhea ORPHA:157835
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Tenorio Syndrome
Mandibular prognathia, Apnea, Raynaud phenomenon, Hydrocephalus, Recurrent pneumonia, Keratoconju... OMIM:616260
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Keratitis, Thyroiditis, Abnormality of the sphenoid sinus, Pros... ORPHA:449563
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus, Hypertension OMIM:615862
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Respiratory failure, Hydrocephalus, Respiratory insufficiency OMIM:276950
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomyopathy, Pancre... OMIM:251000
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency OMIM:615368
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Micrognathia, Hydrocephalus, Meningocele, Anencephaly, Spin... ORPHA:1908
Albers-Schönberg Osteopetrosis
Osteomyelitis, Mandibular osteomyelitis, Carious teeth, Osteoarthritis, Hydrocephalus, Arthritis ORPHA:53
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... ORPHA:1946
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus ORPHA:83473
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Hydroceph... OMIM:620157
Cystic Fibrosis
Sinusitis, Absent vas deferens, Reduced forced expiratory volume in one second, Asthma, Pneumotho... ORPHA:586
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Hydroc... ORPHA:398124
Autosomal Dominant Severe Congenital Neutropenia
Pharyngitis, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis, Recurrent aphthous st... ORPHA:486
Edinburgh Malformation Syndrome
Hydrocephalus, Respiratory insufficiency, Micrognathia ORPHA:1895
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinu... OMIM:615518
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Micrognathia, Subdural hemorrhage, Arterial rupture, Bruising susceptibility... ORPHA:536545
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Asthma, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventric... ORPHA:500055
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:2655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Asthma, Presyncope, Recurrent otitis media, Hashimoto thyroiditis OMIM:614468
Leukocyte Adhesion Deficiency
Abnormal bleeding, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infe... ORPHA:2968
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Hydrocephalus, Irregular menstruat... OMIM:616482
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Respiratory insufficiency ORPHA:1914
Distal Triplication 15Q
Abnormal external genitalia, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hyd... ORPHA:314588
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Hypoplasia... ORPHA:1812
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Respiratory insufficiency ORPHA:207
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Patent ductus arteriosus, Hydrocephalus, Abnormality of the male ge... OMIM:614886
Keutel Syndrome
Sinusitis, Cartilaginous ossification of larynx, Hypertension, Pulmonary artery hypoplasia, Pulmo... OMIM:245150
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus ORPHA:163596
Endocrine-Cerebroosteodysplasia
Natal tooth, Small scrotum, Hypospadias, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydr... OMIM:612651
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Reduced forced expiratory vo... OMIM:613686
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Chronic rhinitis, Erythroderma OMIM:256500
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Pe... OMIM:217090
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Hy... OMIM:300514
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory insufficiency ORPHA:1865
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Micrognathia, Hydrocephalus, Micropenis, Pleural effusion, Dandy... OMIM:617822
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Micrognathia, Telangiectasia, Intracranial hemorrhage, Aortic aneurysm, Arteriov... ORPHA:109
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor OMIM:207950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Cryptorchidism, Hydrocephalus, Abnormality of the larynx, Vaginal atresia ORPHA:3301
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Pharyngitis, Maculopapular exanthema, Skin rash, Crackles, Excessive... ORPHA:319213
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R... ORPHA:3260
B4Galt1-Cdg
Abnormal bleeding, Inflammatory abnormality of the skin, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Hypophosphatasia, Infantile
Intracranial hemorrhage, Apnea OMIM:241500
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus, Testicular neoplasm ORPHA:199244
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus OMIM:269920
Crouzon Syndrome
Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Dysge... OMIM:123500
Leishmaniasis
Abnormal bleeding, Rhinitis ORPHA:507
Fg Syndrome Type 1
Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Pulmonary arteria... ORPHA:93932
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Micrognathia, Hydrocephalus, Pulmonic stenosi... ORPHA:7
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Upper airway obstruction, Hypoplastic labia majora, Malar flattening, Vaginal atre... OMIM:207410
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Pulmon... OMIM:257300
Ichthyosis Prematurity Syndrome
Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma OMIM:608649
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Laryngeal web, ... ORPHA:137675
Trisomy 17P
Hypoplasia of penis, Micrognathia, Patent ductus arteriosus, Hydrocephalus, Malar flattening, Aor... ORPHA:261290
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Patent ductus arteriosus, Hydrocephalus, Inflammation of the large intestine, ... OMIM:614576
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Retrognathia, Bifid uterus ORPHA:2736
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Ventriculomegaly OMIM:109120
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Proteus-Like Syndrome
Communicating hydrocephalus, Mandibular prognathia, Venous insufficiency, Hydrocephalus, Polycyst... ORPHA:2969
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Natal tooth, Hypospadias, Hydrocephalus, Hypoplastic labia m... OMIM:123790
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Malar flattening, Hydrocephalus, Abnormal dental enamel morphology ORPHA:2180
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Rhombencephalosynapsis
Microretrognathia, Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Carious teeth ORPHA:811
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Bicornuate uterus, Holoprosen... OMIM:264480
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Micrognathia OMIM:243440
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Asthma, ... OMIM:618131
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Chronic sinusitis OMIM:615636
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous stomatitis, Perioral eczema OMIM:613960
Lateral Meningocele Syndrome
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Malar flatten... OMIM:130720
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... ORPHA:722
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Hydrocephalus, Cough, Pleur... ORPHA:1546
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker... OMIM:614846
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Vacterl With Hydrocephalus
Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopia... ORPHA:3412
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Menkes Disease
Intracranial hemorrhage OMIM:309400
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Monosomy 18Q
Mandibular prognathia, Left-to-right shunt, Bilateral cryptorchidism, Left aortic arch with right... ORPHA:1600
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Peripheral pulmonary artery stenosis OMIM:613001
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... OMIM:232300
Rabin-Pappas Syndrome
Mandibular prognathia, Hypoventilation, Micrognathia, Retinal telangiectasia, Hydrocephalus, Trac... OMIM:620155
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Micrognathia OMIM:614219
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, Persistence of prim... ORPHA:740
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Joubert Syndrome 2
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Hydrocephalus... OMIM:608091
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Respi... ORPHA:87
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Micrognathia, Hydrocephalus, Colpocephaly, Laryngomalacia, Ventriculomegaly OMIM:619833
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Cryp... ORPHA:2166
Desmosterolosis
Micrognathia, Patent ductus arteriosus, Ambiguous genitalia, female, Hydrocephalus, Ambiguous gen... OMIM:602398
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Congestive heart failure, Asthma, Recurrent pneumonia, Hydrocephalus, ... OMIM:309900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Asthma, Skin rash, Allergic rhinitis OMIM:612714
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Asthma, Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility OMIM:618162
Alg12-Cdg
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurre... ORPHA:79324
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Dextrocardia
Abnormal EKG, Abnormal reproductive system morphology, Hydrocephalus, T-wave inversion, Congenita... ORPHA:1666
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Apnea, Short mandibular rami, Bilateral cryptorc... OMIM:602535
Pelvis-Shoulder Dysplasia
Hydranencephaly, Spina bifida, Micrognathia, Hydrocephalus, Ambiguous genitalia ORPHA:2839
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Hydr... OMIM:101800
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Desmosterolosis
Micrognathia, Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Ambiguo... ORPHA:35107
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly ORPHA:370959
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect... ORPHA:538
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ovotestis, Junctional ectopic tachycardia, Hydrocephalus, Hypoplas... OMIM:309801
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Acne, Cryptorchidism, Hydroce... OMIM:101200
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Arteriovenous mal... ORPHA:974
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Micrognathia ORPHA:1834
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly OMIM:225790
Scheie Syndrome
Aortic regurgitation, Rhinitis ORPHA:93474
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Hydrocephalus, Mitral regurgitation, Abnormality of the sphenoid sinus, ... ORPHA:363700
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Hydrocephalus, Colpocephaly, Retrognathia, Ventriculomegaly OMIM:620156
Tetrasomy 5P
Respiratory distress, Micrognathia, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmon... ORPHA:3309
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:1860
7Q11.23 Microduplication Syndrome
Hypospadias, Tracheomalacia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalu... ORPHA:96121
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Malar flattening, Tetralogy of Fallot, D... OMIM:612582
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Micrognathia, Hydrocephalus, Tubulointerstitial nephritis, Aortic valve stenosis, Dandy-Walker ma... ORPHA:459061
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... OMIM:610984
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... ORPHA:79282
Eosinophilic Gastroenteritis
Hematochezia, Asthma, Atopic dermatitis, Allergic rhinitis ORPHA:2070
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Laryngomalacia, Tracheomalacia, Malar f... ORPHA:93259
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnormal peni... ORPHA:2556
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Ventriculomegaly, Vascular ring OMIM:603387
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Abnormality of the uterus, Chronic otitis media, H... ORPHA:567
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Chronic rhinitis OMIM:615225
Alexander Disease
Sudden cardiac death, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Respiratory insuffi... ORPHA:58
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great art... OMIM:313850
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Tricuspid regurgitation, Pneumonia, Carious teeth, Hydrocephalus, Recu... OMIM:253200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia OMIM:207731
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... OMIM:613795
Pettigrew Syndrome
Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Calvarial osteoscler... OMIM:304340
Cutis Laxa, Autosomal Recessive, Type Iib
Malar flattening, Prominent superficial veins, Bruising susceptibility, Hydrocephalus OMIM:612940
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Mitr... ORPHA:2462
Griscelli Syndrome
Encephalocele, Hydrocephalus, Hepatitis ORPHA:381
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Abnormal pattern of respiration ORPHA:475
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Patent ductus arteriosus, Ovarian cyst, Stroke... OMIM:618188
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he... ORPHA:247245
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Menkes Disease
Gastrointestinal hemorrhage, Osteomyelitis, Micrognathia, Venous insufficiency, Arterial stenosis... ORPHA:565
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Dentinogenesis imperfecta, Micrognathia OMIM:112240
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Con... OMIM:300755
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Micrognathia, Cryptorchidism, Patent du... ORPHA:84
Muenke Syndrome
Malar flattening, Hydrocephalus ORPHA:53271
Hurler Syndrome
Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Rhinitis ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Respiratory insufficiency, Holoprosencephal... OMIM:253800
Dubowitz Syndrome
Delayed eruption of teeth, Hypospadias, Eczema, Micrognathia, Cryptorchidism, Asthma, Hydrocephal... ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Micrognathia, Cryptorchidism, Meningoencephalocele, Hy... OMIM:236670
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Retrognathia, Hypertension, Keratoconjunctivitis si... OMIM:616914
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Hydrocephalus, Osteomyelitis, Calvarial osteosclerosis OMIM:259700
Acute Transverse Myelitis
Increased CSF protein concentration, Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocy... ORPHA:139417
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental malocclusion, Aort... OMIM:182212
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Hydrocephalus, Anencephaly, Tetralogy of Fallot ORPHA:1335
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration ORPHA:220497
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Apnea, Ventriculomegaly ORPHA:395
Short-Rib Thoracic Dysplasia 12
Natal tooth, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Respiratory insufficiency, Hol... OMIM:269860
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Tachypnea, Apnea ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus OMIM:615249
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Laryngeal atresia, Persistent left superior vena cava, Transposition of the great ... OMIM:314390
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Tricuspid regurgitation, Micrognathia, Hydrocephalus, M... ORPHA:314585
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Micrognathia, Laryngeal hypoplasia, Trismus, Patent ductus arteriosus, Aqued... OMIM:154400
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Micrognathia OMIM:311900
Jacobsen Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly,... OMIM:147791
Meckel Syndrome, Type 1
Dilated fourth ventricle, Natal tooth, Occipital encephalocele, Ventriculomegaly, External genita... OMIM:249000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Spi... ORPHA:2162
Hajdu-Cheney Syndrome
Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus arteriosus, Hydr... OMIM:102500
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Interrupted aortic arch ORPHA:250989
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Agenesis ... OMIM:610829
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:2169
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Abnormal respiratory... ORPHA:90062
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus OMIM:187600
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus, Micrognathia OMIM:617667
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Micrognathia, Carious te... ORPHA:536467
Neurooculorenal Syndrome
Subglottic stenosis, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tetralogy ... OMIM:620305
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Micrognathia, Myelomeningocele, Hypoplastic frontal sinuses, Hydrocep... ORPHA:90652
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration ORPHA:220493
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Micrognathia, Respiratory insufficiency, Normal pressure hydrocephalus, ... OMIM:620351
Czeizel-Losonci Syndrome
Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:616538
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Dilation of Virchow-Robin spaces, Micrognathia, Aqueductal stenosis, Crypt... OMIM:619512
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus ORPHA:15
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Micrognathia ORPHA:238769
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Micrognathia OMIM:619320
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Micrognathia ORPHA:163966
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Meckel Syndrome
Encephalocele, True hermaphroditism, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Hy... ORPHA:564
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Asthma, Bronchiectasis, Chro... OMIM:615816
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Hemangioblastoma
Hydrocephalus ORPHA:252054
Trisomy 8P
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infec... ORPHA:264450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Azoospermia, Pulmona... ORPHA:2072
Degcags Syndrome
Tachycardia, Ventriculomegaly, Hypospadias, Pneumonia, Tracheomalacia, Micrognathia, Cryptorchidi... OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Cole-Carpenter Syndrome 2
Microretrognathia, Hydrocephalus, Dentinogenesis imperfecta OMIM:616294
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly, Micrognathia OMIM:617866
Congenital Sialidosis Type 2
Abnormal EKG, Hydrocephalus, Telangiectasia, Cherry red spot of the macula, Petechiae ORPHA:93400
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Mandibular prognathia, Hypospadias, External genital hypoplasia, Abnor... ORPHA:2658
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Hypertrophic ... ORPHA:1340
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplastic male external genitalia, Malar flatte... OMIM:605627
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micrognathia, Holoprosencephaly, Micropenis, Dandy-Walker malformat... OMIM:270400
Mend Syndrome
Microretrognathia, Micrognathia, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walk... OMIM:300960
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Craniofacial osteosclerosis, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Malar flattening, Hydrocephalus, Micrognathia OMIM:224400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... ORPHA:505248
Isotretinoin-Like Syndrome
Micrognathia, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotrunc... ORPHA:2306
Aymé-Gripp Syndrome
Pericarditis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:1272
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis ORPHA:90368
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Vascular dilatation OMIM:219730
Cousin Syndrome
Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydranencephaly OMIM:260660
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Micrognathia, Patent ductus arteri... OMIM:300373
Cockayne Syndrome Type 3
Carious teeth, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Keratoconjunctivitis sicc... ORPHA:90324
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Heart block, Hydrocephalus, Tubulointerstitial nephritis, Cardiomy... ORPHA:228308
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Recurrent upper respiratory tract infections, Cardiomyopathy, Recurrent otitis med... OMIM:253220
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci... OMIM:609192
Achondroplasia
Respiratory distress, Hydrocephalus, Upper airway obstruction, Recurrent otitis media, Malar flat... OMIM:100800
Tetrasomy 9P
Myositis, Pericarditis, Juxtaductal coarctation of the aorta, Abnormal dental enamel morphology, ... ORPHA:3310
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Peho Syndrome
Malar flattening, Hydrocephalus, Ventriculomegaly ORPHA:2836
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Tubulointerstitial nephritis, Cardiomyopathy, Arrhy... ORPHA:157
Loeys-Dietz Syndrome 2
Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Eosinophilic infiltr... OMIM:610168
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Mend Syndrome
Micrognathia, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation ORPHA:401973
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Hypospadias, Allergic rhinitis, Allergic conjunctivitis, Chordee... OMIM:176690
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Micropen... OMIM:227646
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus OMIM:101600
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Apnea, Pulmonary artery stenosis, Hydrocephalus, Chronic rhinitis, Oti... ORPHA:667
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Cockayne Syndrome A
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Irregula... OMIM:216400
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Micrognathia OMIM:305450
Fontaine Progeroid Syndrome
Mandibular prognathia, Prominent superficial veins, Small scrotum, Tricuspid regurgitation, Micro... OMIM:612289
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Portal hypertension, Hydrocephalus, Abnormal pattern of respiration ORPHA:1454
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Craniopharyngioma
Hypogonadotropic hypogonadism, Myocardial infarction, Hydrocephalus, Hypogonadism, Cerebral ischemia ORPHA:54595
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly OMIM:616546
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Malar flattening, Hydrocephalus OMIM:239300
Arachnoiditis
Hydrocephalus ORPHA:137817
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Malar flattening, Hydrocephalus OMIM:618590
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage OMIM:619714
Hajdu-Cheney Syndrome
Mitral stenosis, Hypospadias, Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Hyd... ORPHA:955
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Telangiectasia of the skin, Micrognathia, Hydrocephalus, Keratoconjunctivi... OMIM:616007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Encephalocele, Hypospadias, Cryptorchidism, Myelomeningo... OMIM:219000
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... ORPHA:411696
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Coarctation ... ORPHA:2322
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Recurrent otitis media, Dilated third ... OMIM:619575
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Rectovaginal fistula, Transposition of the grea... ORPHA:1780
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Adenoiditis, Hydrocephalus, Atrioventricular block, Upper airway obstr... ORPHA:581
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia of the uterus, Ventriculom... ORPHA:457284
Orofaciodigital Syndrome I
Microretrognathia, Carious teeth, Supernumerary tooth, Myelomeningocele, Hydrocephalus, Ovarian c... OMIM:311200
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Micrognath... OMIM:114290
Cardiofaciocutaneous Syndrome 1
Micrognathia, Hydrocephalus, Dental malocclusion, Atopic dermatitis, Pulmonic stenosis, Hypertrop... OMIM:115150
Hurler Syndrome
Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Recurrent otitis media OMIM:607014
Witteveen-Kolk Syndrome
Microretrognathia, Unilateral cryptorchidism, Hypospadias, Eczema, Phimosis, Intracranial hemorrh... OMIM:613406
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Tricuspid regurgitation, Micrognathia, Cryptorchidism, Patent ductus arter... ORPHA:261337
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Skin rash ORPHA:220295
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Venous insufficiency, Cryptorchidism, Hypoplasia of t... ORPHA:1106
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Mye... OMIM:306955
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of central incisor, Malar flatte... OMIM:252100
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrocephalus, Micrognathia, Coarctation of aorta ORPHA:268249
Kabuki Syndrome 1
Premature thelarche, Micrognathia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Lateral v... OMIM:147920
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, Emphysema, Micr... OMIM:619472
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Hydrocephalus, Retrognathia, Ventriculomegaly OMIM:614643
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Microg... ORPHA:2050
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus, Aplasia of the uterus, Micrognathia OMIM:614083
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Hydrocephalus, Ventriculomegaly, Micrognathia OMIM:259720
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Eczema, Hematemesis, Recurrent pneumonia, Recurrent upper res... OMIM:301000
Monosomy 9Q22.3
Delayed eruption of teeth, Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus OMIM:619377
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Micrognathia, Absent external genitalia, Hydrocephalus, Vaginal... OMIM:273395
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma OMIM:109400
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Rhinitis OMIM:614941
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Micrognathia ORPHA:1064
Yunis-Varon Syndrome
Hypospadias, Micrognathia, Abnormality of dental structure, Cryptorchidism, Hydrocephalus, Renova... ORPHA:3472
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Micrognathia, Epispadias, Hydrocephalus, Retrognathia ORPHA:2461
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Aortic root aneurysm, Hydrocephalus, Micrognathia OMIM:245600
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Hypospadias, Epistaxis, Micrognathia, Cryptor... OMIM:619841
Thalidomide Embryopathy
Chronic rhinitis ORPHA:3312
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Aortic regurgitation, Osteomyelitis, Hypospadias, Congestive heart failure, Hydroc... OMIM:619475
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Eczema, Hypoplasia of the maxilla, Rhinitis, Taurodontia OMIM:305100
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Hydrocephalus, Malar flattening, Enamel hypoplasia OMIM:259775
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental m... OMIM:133540
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mandibular prognathia, Communicating hydrocephalus, Pneumonia, Mitral regur... ORPHA:309282
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, Micrognathia ORPHA:300570
Icf Syndrome
Communicating hydrocephalus, Micrognathia ORPHA:2268
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Hypospadias, Pneumonia, Micrognath... OMIM:264090
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Abnormal paranasal sinus morpholo... ORPHA:141099
Gaucher Disease
Abnormal bleeding, Osteomyelitis, Osteoarthritis, Cherry red spot of the macula, Hydrocephalus, H... ORPHA:355
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Coarctation of aorta, Hyp... OMIM:210710
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Micrognathia ORPHA:221120
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis, Calcification of the aorta OMIM:231005
Costello Syndrome
Micrognathia, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy... OMIM:218040
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, H... OMIM:610828
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory insufficiency... OMIM:304120
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Pmm2-Cdg
Respiratory distress, Mandibular prognathia, Pericarditis, Hypogonadotropic hypogonadism, Angina ... ORPHA:79318
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus OMIM:104350
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:220386
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus, Arterial stenosis, Hypertension ORPHA:636
Peters Plus Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of... ORPHA:709
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Communicating hydrocephalus, Malar flattening, Micropenis, Ventriculomegaly ORPHA:457359
Focal Dermal Hypoplasia
Delayed eruption of teeth, Cryptorchidism, Hydrocephalus, Myelomeningocele, Dental malocclusion, ... OMIM:305600
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Micrognathia OMIM:208150
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Recurrent upper respiratory tract infections, Peripheral arterial st... ORPHA:580
Stromme Syndrome
Hydrocephalus, Micrognathia OMIM:243605
Wolf-Hirschhorn Syndrome
Hypospadias, Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uter... OMIM:194190
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Abnormal external genitalia, Hypospadias, Cryptorchidism, Patent du... OMIM:607872
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, P... OMIM:261540
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Natal tooth, Recurrent skin infections, Hypogonadotropic hypogonadism, Hyp... ORPHA:3455
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Aortic aneurysm, Hypertension, Respiratory ... ORPHA:805
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Patent ductus ... OMIM:312870
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Hydrolethalus Syndrome 1
Hypospadias, Micrognathia, Laryngeal hypoplasia, Bifid uterus, Anencephaly, Severe hydrocephalus,... OMIM:236680
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Long ... OMIM:268300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Malar flattening, Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Coffin-Siris Syndrome 12
Hypospadias, Micrognathia, Cryptorchidism, Noncommunicating hydrocephalus, Heart murmur, Tetralog... OMIM:619325
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Baller-Gerold Syndrome
Micrognathia, Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta OMIM:218600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Malar flattening, Hydrocephalus, Ventriculomegaly, Micrognathia OMIM:253280
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Hydro... OMIM:164210

Histopathology

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

There is no histopathology data for Nme5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nme5.

No publications found that use IMPC mice or data for Nme5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Nme5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nme5tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Nme5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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