Gene: Nme5 MGI:1922783

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.

Human diseases associated with Nme5 (2 diseases)
Human diseases predicted to be associated with Nme5 (923 diseases)

The table below shows human diseases associated to Nme5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primary Ciliary Dyskinesia		Abnormal sperm motility, Bronchiectasis, Female infertility, Ventriculomegaly, Recurrent otitis m...	ORPHA:244
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus		Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032

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

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 50	Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein ...	OMIM:620356
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent...	OMIM:301101
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m...	OMIM:620438
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Young Syndrome	Azoospermia, Bronchiectasis	OMIM:279000
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Ciliary Dyskinesia, Primary, 9	Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron...	OMIM:612444
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Ciliary Dyskinesia, Primary, 40	Azoospermia, Congenitally corrected transposition of the great arteries, Right aortic arch, Chron...	OMIM:618300
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Retrognathia, Moyamoya phenomenon, Decreased testicular size, Azoospermia...	ORPHA:280679
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Chroni...	OMIM:612650
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ...	OMIM:620277
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Ciliary Dyskinesia, Primary, 16	Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasi...	OMIM:614017
Morbid Obesity And Spermatogenic Failure	Premature coronary artery atherosclerosis, Congestive heart failure, Azoospermia, Oligozoospermia...	OMIM:615703
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis	OMIM:618449
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Congenital Factor Xiii Deficiency	Gingival bleeding, Epistaxis, Inflammation of the large intestine, Delayed onset bleeding, Prolon...	ORPHA:331
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Ciliary Dyskinesia, Primary, 32	Bronchiectasis, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Infertility, Absent ...	OMIM:616481
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Chronic sinusitis, Absent inner and outer dynein arms, Infertility, Rhiniti...	OMIM:618063
Familial Afibrinogenemia	Menometrorrhagia, Epistaxis, Gingival bleeding, Abnormal bleeding, Cerebral hemorrhage	ORPHA:98880
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h...	OMIM:602390
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis...	ORPHA:922
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic...	OMIM:614679
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Otitis media, Ch...	OMIM:613807
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Moyamoya phenome...	OMIM:300845
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morph...	OMIM:610852
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi...	OMIM:619436
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:613808
Ciliary Dyskinesia, Primary, 10	Chronic sinusitis, Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium ...	OMIM:612518
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Ciliary Dyskinesia, Primary, 34	Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central microtubular pair morpholog...	OMIM:617091
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Intraventricular hemorrhag...	OMIM:613603
Ciliary Dyskinesia, Primary, 1	Pneumonia, Male infertility, Communicating hydrocephalus, Chronic sinusitis, Chronic rhinitis, Ab...	OMIM:244400
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib...	ORPHA:52901
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
48,Xyyy Syndrome	Male hypogonadism, Recurrent upper respiratory tract infections, Azoospermia, Enamel hypoplasia, ...	ORPHA:99329
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Bronchiectasis, Male infertility, Absent inner and outer dynein arms	OMIM:618801
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage	ORPHA:401986
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis...	OMIM:618699
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Intraventricular hemorrhage, Aspiration pneumonia	OMIM:616430
Primary Ciliary Dyskinesia	Abnormal sperm motility, Bronchiectasis, Female infertility, Ventriculomegaly, Recurrent otitis m...	ORPHA:244
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Bronchiectasis	OMIM:615504
Abeta Amyloidosis, Iowa Type	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Infertility, Rhinitis, Bronc...	OMIM:615500
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis	OMIM:615481
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Otitis media, Recurrent bacterial upper respiratory tract infections, Sinusiti...	ORPHA:70593
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella	OMIM:620197
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Ciliary Dyskinesia, Primary, 2	Absent inner and outer dynein arms, Otitis media, Sinusitis, Infertility, Bronchiectasis	OMIM:606763
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Absent inner dynei...	OMIM:614874
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 36, X-Linked	Bronchiectasis, Recurrent sinusitis, Chronic otitis media, Male infertility	OMIM:300991
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Combined Immunodeficiency, X-Linked	Pneumonia, Otitis media, Sinusitis	OMIM:312863
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility	OMIM:229070
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra...	ORPHA:136
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Telangiecta...	ORPHA:420741
Spermatogenic Failure 28	Decreased testicular size, Non-obstructive azoospermia, Male infertility	OMIM:618086
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Dural Sinus Malformation	Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage...	ORPHA:97339
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Chronic sinusitis, Male infertility	OMIM:619607
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Fragile X Syndrome	Otitis media, Sinusitis, Macroorchidism, Mandibular prognathia, Chronic otitis media, Ascending t...	ORPHA:908
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ...	ORPHA:90065
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility	ORPHA:3000
Premature Ovarian Failure 10	Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov...	OMIM:612885
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Otitis media, Chronic sinusitis	OMIM:300455
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe...	ORPHA:277
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
48,Xxyy Syndrome	Broad jaw, Ventriculomegaly, Carious teeth, Delayed eruption of teeth, Abnormal dental enamel mor...	ORPHA:10
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis	OMIM:617092
Febrile Infection-Related Epilepsy Syndrome	Sinusitis	ORPHA:163703
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Malar flattening, Hydrocephalus, Oligozoospermia, Microp...	ORPHA:8
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage	OMIM:116860
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:250994
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Rhini...	OMIM:615505
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso...	ORPHA:261519
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Hemophilia B	Menometrorrhagia, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneou...	ORPHA:98879
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ...	ORPHA:99330
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re...	ORPHA:229717
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Holoprosencephaly, Infertility	ORPHA:1445
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms, Rhinitis, Bronch...	OMIM:614935
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Sneddon Syndrome	Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Aortic aneurysm, Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus	ORPHA:261102
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Stomatitis, Skin rash	ORPHA:79284
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Bronchiectasis, Absent outer dynein arms	OMIM:616037
Hemidystonia-Hemiatrophy Syndrome	Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses	ORPHA:306741
Ciliary Dyskinesia, Primary, 22	Reduced sperm motility, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynei...	OMIM:615444
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Recurrent sinusitis, Absent inner dynein arms, Infertility, Bronchiectasi...	OMIM:613193
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus	ORPHA:141333
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis, Recurrent upper ...	ORPHA:397596
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Periodontitis, Hydrocephalus	ORPHA:1008
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility, Chronic otitis media, Chronic sinusitis	OMIM:619608
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr...	ORPHA:33110
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Hydrocephalus	OMIM:258320
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Periventricular Nodular Heterotopia 1	Stroke, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:300049
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Stroke, Sinusitis, Intra...	ORPHA:1163
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Ventriculomegaly, Eczematoid dermatitis, Cardiomyopathy, Recurrent otitis med...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Ventriculomegaly, Eczematoid dermatitis, Cardiomyopathy, Recurrent otitis med...	ORPHA:363958
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus	OMIM:166990
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, ...	OMIM:615482
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614897
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Reduced sperm...	OMIM:608647
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis	OMIM:612692
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Hypogonadotropic hypogonad...	OMIM:235200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Microscopic Polyangiitis	Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Subcutaneo...	ORPHA:727
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:611884
Immunodeficiency 102	Recurrent upper respiratory tract infections, Chronic sinusitis, Recurrent sinusitis, Chronic rhi...	OMIM:301082
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Purpura, Chronic otitis media...	ORPHA:906
Brain Small Vessel Disease 2	Ventriculomegaly, Intracranial hemorrhage	OMIM:614483
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
49,Xxxxy Syndrome	Small scrotum, Carious teeth, Pulmonary embolism, Delayed eruption of teeth, Hypogonadism, Decrea...	ORPHA:96264
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra...	OMIM:605714
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Psoriasiform dermatitis, Facial telangiecta...	ORPHA:168569
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Felty Syndrome	Recurrent pneumonia, Episcleritis, Synovitis, Recurrent pharyngitis, Arthritis, Sinusitis, Rhinit...	ORPHA:47612
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm...	ORPHA:90797
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:615451
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Abnormal bleeding, Hydrocephalus	OMIM:300884
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Pulmonary arterial hypertension, Sinusitis, Rhinitis, Bronchiect...	ORPHA:662
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Bradycardia, Petechiae, Cerebral hemorrhage, Pate...	OMIM:617397
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, C...	ORPHA:47
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa...	ORPHA:183
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
48,Xxxy Syndrome	Small scrotum, Carious teeth, Pulmonary embolism, Delayed eruption of teeth, Hypogonadism, Decrea...	ORPHA:96263
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Primary Angiitis Of The Central Nervous System	Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Intra...	ORPHA:140989
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Right aortic arch, Chronic rhinitis	OMIM:617577
Lig4 Syndrome	Psoriasiform dermatitis, Cryptorchidism, Chronic sinusitis, Telangiectasia, Amenorrhea, Micropenis	OMIM:606593
Microsporidiosis	Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Abnormal vocal cord morphology, O...	ORPHA:2552
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Tooth abscess, Cutaneous abscess, Otitis ...	ORPHA:331235
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Optic neuritis, Cerebral hemorrhage, Panniculitis, Anterior uveitis	OMIM:301081
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Congestive heart failure	OMIM:300886
Mhc Class I Deficiency 1	Bronchiectasis, Chronic otitis media, Chronic sinusitis	OMIM:604571
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Skin rash	ORPHA:26
Bacterial Toxic-Shock Syndrome	Pneumonia, Hypotension, Hepatitis, Fasciitis, Pharyngitis, Osteomyelitis, Shock, Skin rash, Infec...	ORPHA:36234
46,Xx Sex Reversal 2	Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru...	OMIM:278850
Erythrocytosis, Familial, 2	Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Adrenal Hypoplasia, Congenital	Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia	OMIM:300200
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Paro...	ORPHA:51636
Polycythemia Vera	Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage	OMIM:263300
Scedosporiosis	Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica...	ORPHA:449280
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Rheumatic Fever	Epistaxis, Recurrent pharyngitis, Arrhythmia, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pe...	ORPHA:3099
Diencephalic Syndrome	Long penis, Hydrocephalus	ORPHA:1672
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Intraventricular hemorrhage	OMIM:616507
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Mirage Syndrome	Microphallus, Aspiration pneumonia, Decreased testicular size, Cryptorchidism, Petechiae, Hydroce...	OMIM:617053
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Microretrognathia, Lateral ventricle dilatation, Tricus...	OMIM:620371
Cyclic Neutropenia	Periodontitis, Pharyngitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Tooth abs...	ORPHA:2686
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi...	OMIM:177850
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad...	OMIM:308700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Micrognathia, Malar flattening, Sinusitis, Bronchiectasis	OMIM:242860
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
Immunodeficiency 15A	Acne inversa, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent otitis media, Recur...	OMIM:618204
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hypoplastic female external genitalia, Micrognathia, Cryptorchidism, Hydrocephalus	OMIM:618577
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Immunodeficiency 32B	Pneumonia, Bronchiectasis, Sinusitis	OMIM:226990
Lacrimal Duct Defect	Conjunctivitis, Sinusitis	OMIM:149700
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism	OMIM:601794
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Cryptorchidism, Oligozoospermia, Varicose veins	OMIM:314300
Sneddon Syndrome	Arterial stenosis, Hypertension, Intracranial hemorrhage	ORPHA:820
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Cryptorchidism, Malar flattening, Hydrocephalus, Micropenis, Hypospadias, Patent du...	ORPHA:171839
Pseudo-Torch Syndrome 3	Hypertension, Lymphadenitis, Cerebral hemorrhage	OMIM:618886
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Hypotension, Abnormal labia majora morphology, Decreased testicular size, A...	ORPHA:90791
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Dilated fourth ventricle, Right aortic arch, Chronic sinusitis, Persistent l...	OMIM:620642
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:616726
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi...	ORPHA:449285
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral...	ORPHA:900
45,X/46,Xy Mixed Gonadal Dysgenesis	Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, ...	ORPHA:1772
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Ambiguous genitalia...	ORPHA:90795
Immunodeficiency By Defective Expression Of Mhc Class Ii	Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Acute otitis media, Chronic...	ORPHA:572
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Malar flattening, Cryptorchidism, Hydrocephalus, Hypospadias, Patent ductus art...	OMIM:218350
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Subglottic stenosis, Episcleritis, Localized pulmonary he...	OMIM:608710
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Acquired Purpura Fulminans	Macular purpura, Shock, Skin rash, Internal hemorrhage, Prolonged prothrombin time, Intracranial ...	ORPHA:49566
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Ventricular arrhythmia, Prolonged QR...	ORPHA:90068
Functioning Gonadotropic Adenoma	Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov...	ORPHA:91348
Masa Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:303350
Zygomycosis	Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Dilatation of the...	ORPHA:73263
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Chronic ...	OMIM:609757
Bloom Syndrome	Pneumonia, Retrognathia, Azoospermia, Micrognathia, Otitis media, Skin rash, Malar flattening, Te...	ORPHA:125
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Superficial dermal perivascular ...	ORPHA:324636
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Microgn...	ORPHA:1926
Neurocutaneous Melanocytosis	Ventriculomegaly, Infectious encephalitis, Meningocele, Intracranial hemorrhage, Dandy-Walker mal...	ORPHA:2481
Pgm3-Cdg	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis,...	ORPHA:443811
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Vascular dilat...	OMIM:220220
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A...	ORPHA:228119
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Cleidocranial Dysplasia	Carious teeth, Delayed eruption of teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename...	ORPHA:1452
Temple Syndrome	Precocious puberty, Recurrent otitis media, Decreased testicular size, Micrognathia, Cryptorchidi...	OMIM:616222
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Cerebral vasculitis, Otitis media, Sinus...	OMIM:613179
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub...	OMIM:618291
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Fried Syndrome	Hydrocephalus	ORPHA:85335
Ataxia-Telangiectasia	Conjunctival telangiectasia, Abnormal spermatogenesis, Sinusitis, Female hypogonadism, Bronchiect...	OMIM:208900
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Communicating hydrocephalus, Abnormality of the ph...	ORPHA:2119
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypogonadotropic hypogonadism, Intracranial hemorrhage, Hydrocephalus, Abnormality of the sphenoi...	ORPHA:91350
Carboxypeptidase N Deficiency	Allergic rhinitis	OMIM:212070
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Micrognathia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasi...	ORPHA:251066
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Micrognathia, Hydrocephalus	ORPHA:1516
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Emanuel Syndrome	Broad jaw, Aortic valve stenosis, Ventriculomegaly, Recurrent otitis media, Micrognathia, Cryptor...	OMIM:609029
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis	OMIM:601457
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infec...	OMIM:603165
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Tetralogy of Fallot, Micrognathia, Pulmonic stenosis, Double outlet right ...	OMIM:220210
Immunodeficiency, Common Variable, 4	Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Malar prominence, Micrognathia, Conjunctival telangi...	OMIM:251260
Coccidioidomycosis	Hypoglycorrhachia, Morbilliform rash, Abnormality of the female genitalia, Erythema nodosum, Vasc...	ORPHA:228123
Whipple Disease	Uveitis, Gastrointestinal hemorrhage, Hypotension, Infectious encephalitis, Myositis, Hydrocephal...	ORPHA:3452
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Hypotension, Hypertrophic cardiomyopathy, Azoospermia,...	ORPHA:361
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio...	ORPHA:91387
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy, Hydrocephalus, Sinusitis, Chronic otitis m...	ORPHA:579
Joubert Syndrome 14	Encephalocele, Malar flattening, Intracranial hemorrhage, Hydrocephalus, Meningocele, Hypertensio...	OMIM:614424
Ige Responsiveness, Atopic	Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Temple Syndrome	Precocious puberty, Hydrocephalus, Cryptorchidism	ORPHA:254516
Beemer-Ertbruggen Syndrome	Micrognathia, Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism	ORPHA:1237
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Pallister-Hall-Like Syndrome	Micropenis, Micrognathia, Occipital encephalocele, Hydrocephalus	OMIM:241800
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Panniculitis	OMIM:617591
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia	OMIM:608836
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Choanal Atresia	Subglottic stenosis, Chronic sinusitis, Laryngomalacia	ORPHA:137914
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Chronic otitis media, Sinusitis	ORPHA:583
Eosinophilopenia	Allergic rhinitis	OMIM:131430
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Hydrocephalus, Infectious encephalitis	ORPHA:447788
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Chronic otitis media	ORPHA:3226
Hydrolethalus	Retrognathia, Micrognathia, Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalus, An...	ORPHA:2189
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Congenital Syphilis	Pneumonia, Keratitis, Hyperplasia of the maxilla, Petechiae, Synovitis, Pancreatitis, Hydrocephal...	ORPHA:499009
Histiocytosis-Lymphadenopathy Plus Syndrome	Retrognathia, Azoospermia, Facial telangiectasia, Episcleritis, Pulmonic stenosis, Pulmonary arte...	OMIM:602782
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Mandibular prognathia, Hydrocephalus	OMIM:248000
Hydrolethalus Syndrome 2	Ventriculomegaly, Micrognathia, Anencephaly, Hydrocephalus	OMIM:614120
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus	OMIM:618302
Chronic Granulomatous Disease	Inflammatory abnormality of the eye, Sinusitis, Eczematoid dermatitis, Otitis media	ORPHA:379
Igg4-Related Pachymeningitis	Nephritis, Increased CSF protein concentration, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis...	ORPHA:449427
Triploidy	Micrognathia, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of peni...	ORPHA:3376
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Chronic otitis medi...	ORPHA:83471
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Azoospermia	ORPHA:300298
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis	ORPHA:26137
Meningioma	Hypogonadotropic hypogonadism, Amenorrhea, Syncope, Hydrocephalus, Cerebral hemorrhage, Impotence	ORPHA:2495
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Osteogenesis Imperfecta	Arterial dissection, Dentinogenesis imperfecta, Ventriculomegaly, Carious teeth, Dental malocclus...	ORPHA:666
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Lead Poisoning	Decreased male libido, Delayed eruption of teeth, Abnormality of the menstrual cycle, Decreased f...	ORPHA:330015
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Hydrocephal...	OMIM:259710
Cystic Fibrosis	Recurrent pneumonia, Chronic sinusitis, Pancreatitis, Bronchiectasis, Male infertility	OMIM:219700
Emanuel Syndrome	Broad jaw, Aortic valve stenosis, Ventriculomegaly, Delayed eruption of teeth, Hypogonadism, Recu...	ORPHA:96170
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Immunodeficiency 20	Recurrent otitis media, Recurrent viral upper respiratory tract infections, Recurrent sinusitis	OMIM:615707
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int...	ORPHA:449395
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Inflammatory abnormality of the eye, Hydrocephalus, Hypoplasia of the maxilla, Malar flattening	ORPHA:93262
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Eczematoid dermatitis, Keratoconjunctivitis sicca, Sinusitis, Inflamma...	ORPHA:238468
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Hurler-Scheie Syndrome	Rhinitis, Cardiomyopathy	ORPHA:93476
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent skin infections, Bronchie...	OMIM:616576
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Hydrocephalus	ORPHA:83473
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Malar rash, Skin rash, Abnorma...	ORPHA:398124
Nephronophthisis 18	Tubulointerstitial nephritis, Hypertension, Hydrocephalus	OMIM:615862
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Micrognathia, Encephalocele, Anencephaly, Hydrocephalus, ...	ORPHA:1908
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased CSF protein concentration, Infectious encephalitis, Pustule, CSF lymphocytic...	ORPHA:68
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Morbilliform rash, Erythema nodosum, Tachycardia, Purpura, Epididymitis, Diffu...	ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy	OMIM:613155
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Hypospadias, Cryptorchidism	OMIM:175700
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Abnormal EKG, Syncope, Retrograde ejaculation, Orthostatic hypotension, Rhin...	ORPHA:230
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Patent ductus arteriosu...	OMIM:612938
Amelocerebrohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec...	ORPHA:1946
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Propionic Acidemia	Cerebellar hemorrhage, Pancreatitis, Eczematoid dermatitis, Cardiomyopathy	OMIM:606054
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla...	ORPHA:2232
Good Syndrome	Recurrent skin infections, Bronchiectasis, Sinusitis	ORPHA:169105
Albers-Schönberg Osteopetrosis	Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Hydrocephalus, Osteoarthritis, Arthritis	ORPHA:53
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Micrognathia, Aortic aneurysm, Ce...	ORPHA:536545
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hydrocephalus, Mandibula...	OMIM:620157
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Patent ductus...	ORPHA:77298
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Retrognathia, Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bron...	OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Prominence of the premaxilla, Double outlet right ventricle, H...	OMIM:614886
Genitopalatocardiac Syndrome	Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hydrocephalus...	ORPHA:2075
Fanconi Anemia	Ventriculomegaly, Arteriovenous malformation, Abnormality of the uterus, Hypogonadism, Hypertroph...	ORPHA:84
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus	ORPHA:272
Hydranencephaly	Ventriculomegaly, Dilatation of the ventricular cavity, Abnormal internal carotid artery morpholo...	ORPHA:2177
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dental malocclusion, Cryptorchidism, Dandy-Walker malformation	OMIM:310400
Trisomy 1Q	Small scrotum, Ventriculomegaly, Microretrognathia, Cryptorchidism, Ambiguous genitalia, Hydrocep...	ORPHA:261344
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Ventriculomegaly, Periodontitis, Hydroce...	OMIM:217090
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Hydrocephalus	OMIM:615599
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypogonadism, Coarctation of aorta, Hydrocephalus, Micropenis, Patent ductus ar...	OMIM:300514
Immunodeficiency 13	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurr...	OMIM:615518
Lowry-Maclean Syndrome	Hypoplasia of the maxilla, Retrognathia, Bilateral cryptorchidism, Micrognathia, Delayed eruption...	ORPHA:2409
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Igg4-Related Ophthalmic Disease	Keratitis, Abnormality of the sphenoid sinus, Orchitis, Prostatitis, Pancreatitis, Sinusitis, Cho...	ORPHA:449563
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Pharyngitis, Recurrent aphthous stomatitis, Rhinitis, Recurrent skin in...	ORPHA:486
Hellp Syndrome	Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage	ORPHA:244242
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Metrorrhagia, Abnormal lymphatic vessel mo...	ORPHA:464329
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Arteriovenous malformation, Subcutaneous hemorrhage, Micrognathia, Hashimoto th...	ORPHA:109
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Micrognathia, Cryptorchidism, Hydrocephalus, Micropenis	OMIM:619951
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent sinusitis, Recurrent bacterial skin infections, Chronic o...	ORPHA:217390
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Mandibular prognathia	OMIM:601499
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Leukocyte Adhesion Deficiency	Pneumonia, Abnormal bleeding, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Otitis med...	ORPHA:2968
Tenorio Syndrome	Recurrent pneumonia, Ventriculomegaly, Recurrent aphthous stomatitis, Keratoconjunctivitis sicca,...	OMIM:616260
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus	ORPHA:93274
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191

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