Gene: Spef2 MGI:2443727

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

sperm flagellar 2

Synonyms:

C230086A09Rik

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 Spef2 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 Spef2 (2 diseases)
Human diseases predicted to be associated with Spef2 (866 diseases)

The table below shows human diseases associated to Spef2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spermatogenic Failure 43		Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Primary Ciliary Dyskinesia		Airway obstruction, Female infertility, Recurrent otitis media, Chronic otitis media, Wheezing, C...	ORPHA:244

The table below shows human diseases predicted to be associated to Spef2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 51	Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot...	OMIM:619177
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ...	ORPHA:1646
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility	OMIM:619689
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa...	OMIM:619436
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Immotile...	OMIM:617091
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Ciliary Dyskinesia, Primary, 18	Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Immotile sp...	OMIM:614874
Ciliary Dyskinesia, Primary, 9	Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Male ...	OMIM:612444
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Ciliary Dyskinesia, Primary, 32	Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia	OMIM:616481
Ciliary Dyskinesia, Primary, 13	Infertility, Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskine...	OMIM:613193
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti...	OMIM:618433
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Ciliary Dyskinesia, Primary, 24	Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis	OMIM:615481
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ...	OMIM:618801
Ciliary Dyskinesia, Primary, 26	Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance...	OMIM:615500
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Ciliary Dyskinesia, Primary, 25	Infertility, Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, B...	OMIM:615482
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia...	OMIM:612649
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Ciliary Dyskinesia, Primary, 14	Bronchiectasis, Immotile sperm, Reduced sperm motility, Otitis media, Absent inner dynein arms, A...	OMIM:613807
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Spermatogenic Failure 24	Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta...	OMIM:617959
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Infertility, Decreased nasal nitric oxide, Ciliary dyskinesia	OMIM:615872
Ciliary Dyskinesia, Primary, 12	Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Abnormal central microtubu...	OMIM:612650
Ciliary Dyskinesia, Primary, 6	Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary dyskinesia...	OMIM:610852
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,...	OMIM:618300
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phys...	OMIM:242670
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Abnormal ciliary m...	OMIM:614017
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Young Syndrome	Recurrent bronchitis, Obstructive azoospermia, Decreased fertility	ORPHA:3471
Ciliary Dyskinesia, Primary, 19	Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Male infertili...	OMIM:614935
Ciliary Dyskinesia, Primary, 15	Infertility, Recurrent otitis media, Immotile sperm, Abnormal axonemal organization of respirator...	OMIM:613808
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Ciliary Dyskinesia With Excessively Long Cilia	Sinusitis, Airway obstruction, Abnormal respiratory motile cilium morphology, Chronic rhinitis, R...	OMIM:242680
Ciliary Dyskinesia, Primary, 22	Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance...	OMIM:615444
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada...	ORPHA:98798
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, R...	OMIM:615505
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Ciliary Dyskinesia, Primary, 10	Chronic otitis media, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary...	OMIM:612518
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire...	OMIM:618449
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary...	OMIM:615067
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Infertility, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, A...	OMIM:606763
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Reduced spe...	OMIM:608647
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula...	ORPHA:399808
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Ciliary Dyskinesia, Primary, 38	Infertility, Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory...	OMIM:618063
Spermatogenic Failure 2	Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility	OMIM:108420
Young Syndrome	Bronchiectasis, Azoospermia, Recurrent bronchitis	OMIM:279000
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism	ORPHA:3000
Ciliary Dyskinesia, Primary, 17	Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar...	OMIM:614679
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:615294
Ciliary Dyskinesia, Primary, 23	Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic rhi...	OMIM:615451
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob...	ORPHA:399805
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:215520
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619949
Ciliary Dyskinesia, Primary, 7	Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric...	OMIM:611884
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent s...	OMIM:615504
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Familial Nasal Acilia	Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c...	ORPHA:922
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Chronic rhinitis, Male infertility, Chronic sinusitis, Ciliary dyskinesia, ...	OMIM:244400
Ciliary Dyskinesia, Primary, 30	Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ...	OMIM:616037
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Male hypogonadism	OMIM:241000
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Cough, Male infertility, Chronic sinusitis, Recurrent otitis media, Decreased nasal nitric oxide	OMIM:619607
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility	OMIM:261550
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira...	OMIM:608644
Spermatogenic Failure 15	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:616950
Ciliary Dyskinesia, Primary, 36, X-Linked	Infertility, Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress	OMIM:300991
Morbid Obesity And Spermatogenic Failure	Infertility, Oligospermia, Azoospermia	OMIM:615703
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Ciliary Dyskinesia, Primary, 33	Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent pneumonia, Recurrent...	OMIM:616726
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m...	ORPHA:261529
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen...	ORPHA:52901
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:225050
Combined Immunodeficiency, X-Linked	Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media	OMIM:312863
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Reduced progressive sperm motility, Chronic sinusitis, Chronic otit...	OMIM:619608
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction	OMIM:253240
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility, Absent vas deferens	OMIM:277180
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Gliosis, Cerebellar...	ORPHA:79243
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec...	OMIM:620032
Immunodeficiency 32B	Bronchiectasis, Sinusitis, Pneumonia	OMIM:226990
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Otitis media	OMIM:300455
Congenital Neuronal Ceroid Lipofuscinosis	Apnea, Gliosis, Central sleep apnea, Abnormal astrocyte morphology, Ventriculomegaly, Neonatal re...	ORPHA:168486
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Cough	ORPHA:163703
Chudley-Mccullough Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly	OMIM:604213
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Pyelonephritis, Cryptorchidism, Oligospermia, Nephritis	OMIM:314300
Fragile X Syndrome	Sinusitis, Otitis media, Chronic otitis media, Mandibular prognathia, Macroorchidism	ORPHA:908
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d...	ORPHA:70593
Primary Ciliary Dyskinesia	Airway obstruction, Female infertility, Recurrent otitis media, Chronic otitis media, Wheezing, C...	ORPHA:244
Pineocytoma	Hydrocephalus, Increased CSF protein	ORPHA:251912
47,Xyy Syndrome	Asthma, Malar flattening, Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Az...	ORPHA:8
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Cleft Lip With Or Without Cleft Palate	Chronic sinusitis, Recurrent otitis media	ORPHA:1991
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia	OMIM:229070
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Lateral ventricle dilatation	ORPHA:306669
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:600348
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Spermatogenic Failure 28	Azoospermia, Decreased testicular size	OMIM:618086
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis	OMIM:612692
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Ciliary Dyskinesia, Primary, 44	Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu...	OMIM:618781
Spastic Paraplegia 50, Autosomal Recessive	Gliosis, Ventriculomegaly	OMIM:612936
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease...	OMIM:614837
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infections, Re...	ORPHA:277
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A...	ORPHA:320391
Epilepsy, Pyridoxine-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Ciliary Dyskinesia, Primary, 35	Chronic rhinitis, Bronchiectasis, Chronic sinusitis, Cough	OMIM:617092
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P...	OMIM:307200
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arthritis, Azoospermia	OMIM:602390
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re...	ORPHA:229717
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sinusitis, Productive cou...	OMIM:618699
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media	OMIM:618948
Hemimegalencephaly	Gliosis, Ventriculomegaly	ORPHA:99802
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis	OMIM:604571
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media	OMIM:613502
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ...	ORPHA:33110
Androgen Insensitivity, Partial	Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona...	OMIM:312300
Scedosporiosis	Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pneumonia, Arthralgia/arthritis, ...	ORPHA:449280
Pontocerebellar Hypoplasia, Type 4	Gliosis, Respiratory failure	OMIM:225753
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Apnea, Hydrocephalus, Agenesis of corpus callosum	OMIM:300864
Aspergillosis	Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Chronic lung disease,...	ORPHA:1163
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 14	Gliosis, Ventriculomegaly	OMIM:614946
Severe X-Linked Intellectual Disability, Gustavson Type	Lateral ventricle dilatation, Dilated fourth ventricle, Apneic episodes in infancy, Dandy-Walker ...	ORPHA:3078
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Adrenal Hypoplasia, Congenital	Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism	OMIM:300200
Hemidystonia-Hemiatrophy Syndrome	Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses	ORPHA:306741
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Gliosis, Agenesis of corpus callosum, Ventriculomegaly	OMIM:300215
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Premature Ovarian Failure 10	Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov...	OMIM:612885
Spinocerebellar Ataxia, Autosomal Recessive 27	Gliosis	OMIM:618369
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Anemia, Hypochromic Microcytic, With Iron Overload 2	Azoospermia, Hypogonadism	OMIM:615234
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis, Respiratory failure requiring assisted ventilation, Recurrent aspiration p...	ORPHA:204
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Developmental And Epileptic Encephalopathy 14	Gliosis	OMIM:614959
Lead Poisoning	Infertility, Asthma, Decreased male libido, Skin rash, Reduced sperm motility, Oligospermia, Abno...	ORPHA:330015
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Cach Syndrome	Lateral ventricle dilatation, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insuffi...	ORPHA:135
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Functioning Gonadotropic Adenoma	Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl...	ORPHA:91348
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus	ORPHA:2578
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Ciliary dyskinesia	ORPHA:1882
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Immunodeficiency 102	Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent sinusitis, Chr...	OMIM:301082
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Adducted Thumbs Syndrome	Respiratory insufficiency, Myelin-dependent gliosis	OMIM:201550
Leukoencephalopathy With Vanishing White Matter	Gliosis, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency	OMIM:603896
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arthritis, Hepatitis, Recurrent pneumo...	ORPHA:47
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot...	OMIM:228300
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Asthma, Chronic gastritis, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atopic dermatitis, R...	ORPHA:183675
Leigh Syndrome	Gliosis, Increased CSF lactate, Respiratory insufficiency, Abnormal pattern of respiration, Respi...	OMIM:256000
Yellow Nail Syndrome	Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension	ORPHA:662
Congenital Hydrocephalus	Hydrocephalus, Colpocephaly, Ventriculomegaly	ORPHA:2185
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Microsporidiosis	Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis...	ORPHA:2552
Cystic Fibrosis	Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Chronic lung disease, Decre...	OMIM:219700
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Increased CSF protein, Pneumonia	OMIM:608033
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Ciliary Dyskinesia, Primary, 42	Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ...	OMIM:618695
Felty Syndrome	Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pharyngitis, Recurrent pneumo...	ORPHA:47612
Whim Syndrome	Sinusitis, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections, Severe peri...	ORPHA:51636
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad...	ORPHA:90797
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Rheumatic Fever	Sinusitis, Respiratory insufficiency, Endocarditis, Myocarditis, Arthritis, Recurrent pharyngitis...	ORPHA:3099
Congenital Hypothyroidism	Sinusitis, Abnormality of reproductive system physiology, Hypogonadism	ORPHA:442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613154
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Colpocephaly, Dilated third ventricle, Chronic lung disease, Tachypnea, Lateral ventricle ...	ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Choanal Atresia	Respiratory distress, Laryngomalacia, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sin...	ORPHA:137914
Autosomal Dominant Non-Syndromic Intellectual Disability	Lateral ventricle dilatation	ORPHA:178469
Nijmegen Breakage Syndrome	Sinusitis, Otitis media, Micrognathia, Recurrent bronchitis, Recurrent pneumonia, Bronchiectasis,...	OMIM:251260
Huntington Disease	Gliosis	OMIM:143100
Selective Igm Deficiency	Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane...	ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Malar flattening, Micrognathia, Pneumonia, Bronchiectasis	OMIM:242860
Lacrimal Duct Defect	Sinusitis, Conjunctivitis	OMIM:149700
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Ataxia-Telangiectasia	Sinusitis, Recurrent bronchitis, Abnormal spermatogenesis, Bronchiectasis, Female hypogonadism	OMIM:208900
Holoprosencephaly 5	Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen...	OMIM:609637
Cyclic Neutropenia	Sinusitis, Periodontitis, Enterocolitis, Otitis media, Recurrent skin infections, Peritonitis, Ph...	ORPHA:2686
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Gliosis	OMIM:614498
Cerebrooculofacioskeletal Syndrome 1	Agenesis of corpus callosum, Gliosis, Recurrent pneumonia, Ventriculomegaly	OMIM:214150
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism	ORPHA:141333
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Pituitary Dermoid And Epidermoid Cysts	Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism	ORPHA:91351
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Complement Component 4B Deficiency	Asthma, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media	OMIM:614379
Spinocerebellar Ataxia, Autosomal Recessive 2	Gliosis	OMIM:213200
Slc35A2-Cdg	Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis...	ORPHA:36234
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Immunodeficiency 61	Recurrent sinusitis, Recurrent otitis media, Arthritis	OMIM:300310
Generalized Glucocorticoid Resistance Syndrome	Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Acne, Female ...	ORPHA:786
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly	ORPHA:488627
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Pick Disease Of Brain	Gliosis	OMIM:172700
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Increased CSF lactate	ORPHA:565624
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Wide anterior fontanel	ORPHA:457279
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Gliosis, Respiratory insufficiency, Hypercapnia, Apneic episodes in infancy, Ventriculomegaly	OMIM:618222
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Micrognathia	OMIM:601076
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism	OMIM:614897
Achondroplasia	Hydrocephalus, Upper airway obstruction	OMIM:100800
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Huntington Disease-Like 1	Gliosis, Ventriculomegaly	ORPHA:157941
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Intellectual Developmental Disorder, X-Linked 12	Gliosis, Ventriculomegaly	OMIM:300957
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly	OMIM:610333
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum	OMIM:619302
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Aspiration	ORPHA:2148
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis	OMIM:300857
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Hydrolethalus Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly	OMIM:614120
Eosinophilic Granulomatosis With Polyangiitis	Asthma, Sinusitis, Skin rash, Respiratory insufficiency, Endocarditis, Myositis, Myocarditis, Cou...	ORPHA:183
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Asthma, Dysplastic corpus callosum	ORPHA:544488
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Gliosis, Increased CSF lactate, Tachypnea	OMIM:220111
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Fried Syndrome	Hydrocephalus	ORPHA:85335
Wars2-Related Combined Oxidative Phosphorylation Defect	Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculomegaly	ORPHA:572798
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Gliosis	OMIM:221820
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Immunodeficiency 15A	Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut...	OMIM:618204
Distal Monosomy 10Q	Lateral ventricle dilatation, Spina bifida occulta	ORPHA:96148
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Microscopic Polyangiitis	Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo...	ORPHA:727
Fusariosis	Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, F...	ORPHA:228119
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Gapo Syndrome	Amenorrhea, Dysmenorrhea, Micrognathia, Oligospermia, Delayed eruption of teeth, Hypogonadism, Ma...	ORPHA:2067
Acalvaria	Hydrocephalus, Spina bifida, Holoprosencephaly	ORPHA:945
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Bloom Syndrome	Cheilitis, Chronic pulmonary obstruction, Malar flattening, Otitis media, Retrognathia, Micrognat...	ORPHA:125
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis	OMIM:604218
Frontal Encephalocele	Hydrocephalus, Spina bifida, Encephalocele	ORPHA:1931
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl...	ORPHA:572
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot...	OMIM:278850
Myotonic Dystrophy 2	Oligospermia, Hypogonadism	OMIM:602668
Complete Androgen Insensitivity Syndrome	Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T...	ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 24	Gliosis, Increased CSF lactate, Agenesis of corpus callosum	OMIM:616239
Granulomatosis With Polyangiitis	Keratitis, Sinusitis, Respiratory insufficiency, Chronic otitis media, Cough, Uveitis, Rhinorrhea...	OMIM:608710
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Recurrent pneumonia, Pulmonary arterial hy...	ORPHA:464738
Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Abnormal spermatogenesis	ORPHA:90646
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gliosis	OMIM:604484
Granulomatosis With Polyangiitis	Sinusitis, Prostatitis, Pancreatitis, Chronic pulmonary obstruction, Skin rash, Otitis media, Res...	ORPHA:900
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus	ORPHA:2183
Wiskott-Aldrich Syndrome	Keratitis, Blepharitis, Sinusitis, Conjunctivitis, Chronic pulmonary obstruction, Otitis media, E...	ORPHA:906
Alexander Disease	Hydrocephalus, Increased CSF protein	OMIM:203450
Hereditary Amyloidosis With Primary Renal Involvement	Oligospermia, Tubulointerstitial nephritis, Male infertility, Hypogonadism, Abnormal testis morph...	ORPHA:85450
Cleidocranial Dysplasia	Sleep apnea, Sinusitis, Supernumerary tooth, Micrognathia, Delayed eruption of teeth, Chronic oti...	ORPHA:1452
Spinocerebellar Ataxia 17	Gliosis	OMIM:607136
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Episodic tachypnea, Apneic episodes in infancy, Ventriculomegaly, Dandy-Walker mal...	ORPHA:163961
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi...	OMIM:400045
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Gliosis	OMIM:105550
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Chronic Granulomatous Disease	Sinusitis, Chronic pulmonary obstruction, Otitis media, Eczema, Inflammatory abnormality of the eye	ORPHA:379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Respiratory insufficiency, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Wa...	OMIM:613153
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Gliosis, Impotence, Autonomic erectile dysfunction	OMIM:169500
Microcephaly 10, Primary, Autosomal Recessive	Gliosis	OMIM:615095
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:304100
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Good Syndrome	Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea	ORPHA:169105
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Familial Acute Necrotizing Encephalopathy	Abnormal pattern of respiration, Gliosis, Increased CSF protein	ORPHA:88619
Mucopolysaccharidosis Type 6	Sinusitis, Chronic otitis media, Recurrent upper respiratory tract infections	ORPHA:583
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Gliosis	OMIM:221770
Craniotelencephalic Dysplasia	Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly	ORPHA:1528
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Progressive ventriculomegaly, Apnea, Gliosis	OMIM:602613
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein	ORPHA:251915
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo...	OMIM:225790
Immunodeficiency 20	Recurrent sinusitis, Recurrent viral upper respiratory tract infections, Recurrent otitis media, ...	OMIM:615707
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Pgm3-Cdg	Asthma, Osteomyelitis, Recurrent skin infections, Eczema, Membranoproliferative glomerulonephriti...	ORPHA:443811
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Wide anterior fontanel, Gliosis, Neonatal death	OMIM:231680
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Skin rash, Myositis, Arthritis, Conjunctivitis, Panniculitis	OMIM:617591
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent pneumonia	OMIM:613494
Frontotemporal Dementia With Motor Neuron Disease	Gliosis	ORPHA:275872
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Kleefstra Syndrome Due To A Point Mutation	Gliosis, Ventriculomegaly, Tracheomalacia	ORPHA:261652
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Glioma	OMIM:241800
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Cough, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Inflammatory abn...	ORPHA:238468
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Igg4-Related Ophthalmic Disease	Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Cholangitis, Abnormality of the spheno...	ORPHA:449563
Machado-Joseph Disease	Gliosis, Dilated fourth ventricle	OMIM:109150
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy	OMIM:619111
Immunodeficiency, Common Variable, 1	Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media...	OMIM:607594
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Lateral ventricle dilatation, Hypogonadotropic hypogonadism	ORPHA:177907
Riddle Syndrome	Otitis media, Arthritis, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive...	ORPHA:420741
Spinocerebellar Ataxia, X-Linked 3	Gliosis, Episodic respiratory distress, Episodic hypoventilation	OMIM:301790
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Gliosis, Restrictive ventilatory defect, Cardiorespiratory arrest, Dyspne...	ORPHA:26791
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Otitis media	OMIM:613179
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Sleep apnea, Hydrocephalus, Wide anterior fontanel, Central apnea, Pulmonary arterial hypertension	OMIM:616482
Classic Galactosemia	Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in...	ORPHA:79239
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Zygomycosis	Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, Peritonitis, Endo...	ORPHA:73263
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Thanatophoric Dysplasia Type 2	Hydrocephalus, Holoprosencephaly, Respiratory insufficiency, Ventriculomegaly, Encephalocele	ORPHA:93274
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism	Central hypoventilation, Gliosis	OMIM:118301
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosu...	OMIM:615287
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation	ORPHA:2822
Igg4-Related Kidney Disease	Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Urethritis, Interstit...	ORPHA:449395
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis	ORPHA:457240
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Myelomeningocele, Hydrocephalus, Spina bifida occulta	OMIM:183802
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Oligospermia, Clitoral hypoplasia	OMIM:614813
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Respiratory insufficiency, Gliosis, Ventriculomegaly	OMIM:617193
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis...	OMIM:616576
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation	OMIM:220220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Asthma, Sinusitis, Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidi...	OMIM:102700
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Inspiratory stridor, Spina bifida, Agenesis of corpus callosum, ...	OMIM:207950
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Hypogonadism	OMIM:601794
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Thymic Aplasia	Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Chronic otitis media, Pneumonia, Atyp...	ORPHA:83471
Temple Syndrome	Hydrocephalus	OMIM:616222
L-2-Hydroxyglutaric Aciduria	Gliosis	OMIM:236792
Mucopolysaccharidosis Type 1	Apnea, Sinusitis, Chronic otitis media, Cough	ORPHA:579
Leukocyte Adhesion Deficiency	Sinusitis, Osteomyelitis, Lymphocytic interstitial pneumonia, Chronic oral candidiasis, Otitis me...	ORPHA:2968
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis	OMIM:307000
Immunodeficiency, Common Variable, 2	Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Bronchiec...	OMIM:240500
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Central Precocious Puberty	Hydrocephalus	ORPHA:759
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Thanatophoric Dysplasia	Respiratory insufficiency, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Anterior encephalocele	OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Ventriculomegaly, Communicating hydrocephalus	OMIM:615219
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus	OMIM:273730
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Gliosis, Respiratory failure	OMIM:619847
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila...	ORPHA:1772
Igg4-Related Pachymeningitis	Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Dyspnea, Parotitis	ORPHA:449427
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Hydrocephalus	OMIM:600991
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,...	ORPHA:90793
Mental Retardation, Buenos Aires Type	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:249630
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Gliosis, Respiratory failure	ORPHA:3240
Combined Immunodeficiency Due To Dock8 Deficiency	Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent s...	ORPHA:217390
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Respiratory insufficiency, Hydrocephalus	ORPHA:93262
Edinburgh Malformation Syndrome	Respiratory insufficiency, Hydrocephalus	ORPHA:1895
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Respiratory insufficiency, Hydrocephalus	ORPHA:1914
Keutel Syndrome	Airway obstruction, Sinusitis, Recurrent otitis media, Malar flattening, Cartilaginous ossificati...	OMIM:245150
Krabbe Disease	Hydrocephalus, Increased CSF protein	OMIM:245200
Immunodeficiency, Common Variable, 3	Recurrent sinusitis, Conjunctivitis, Recurrent otitis media	OMIM:613493
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Arnold-Chiari Malformation Type Ii	Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Inspiratory stridor, Partial agenesi...	ORPHA:1136
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Wiskott-Aldrich Syndrome, Autosomal Dominant	Sinusitis, Otitis media, Eczema, Recurrent upper respiratory tract infections, Inflammation of th...	OMIM:600903
Neurodegeneration With Brain Iron Accumulation 2A	Gliosis	OMIM:256600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gliosis, Ventriculomegaly	OMIM:618321
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent sinusitis, Colitis, Recurrent aphthous stomatitis, Perioral eczema	OMIM:613960
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis, Respiratory failure	ORPHA:280210
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri...	ORPHA:228123
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Colpocephaly, Ventriculomegaly	OMIM:619833
Molybdenum Cofactor Deficiency, Complementation Group B	Gliosis, Ventriculomegaly	OMIM:252160
Hydrocephalus With Associated Malformations	Hydrocephalus	OMIM:236640
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Leigh Syndrome	Gliosis, Increased CSF lactate, Abnormal pattern of respiration, Respiratory failure, Agenesis of...	ORPHA:506
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Myopathy, Centronuclear, X-Linked	Neonatal respiratory distress, Hydrocephalus, Dandy-Walker malformation, Respiratory failure requ...	OMIM:310400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Gliosis, Increased CSF protein, Astrocytosis	OMIM:203700
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Achondroplasia	Hydrocephalus, Wide anterior fontanel, Central sleep apnea, Restrictive ventilatory defect, Hypox...	ORPHA:15
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent...	OMIM:615518
Weiss-Kruszka Syndrome	Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly	OMIM:618619
Pontocerebellar Hypoplasia, Type 2A	Gliosis	OMIM:277470
Intellectual Developmental Disorder, Autosomal Dominant 36	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Crouzon Syndrome	Respiratory insufficiency, Hydrocephalus	ORPHA:207
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Shwachman-Diamond Syndrome	Sinusitis, Osteomyelitis, Skin rash, Eczema, Delayed eruption of teeth, Carious teeth, Pneumonia	ORPHA:811
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Hydrocephalus, Ventriculomegaly, Wide anterior fontanel	ORPHA:1860
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh...	ORPHA:91
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus	OMIM:613603
Bresek Syndrome	Hydrocephalus, Neonatal death	ORPHA:85284
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Joubert Syndrome 14	Hydrocephalus, Dandy-Walker malformation, Encephalocele	OMIM:614424
Intellectual Developmental Disorder, Autosomal Dominant 35	Hydrocephalus, Ventriculomegaly	OMIM:616355
Emanuel Syndrome	Infertility, Hydrocephalus, Cough, Ventriculomegaly, Hypogonadism, Agenesis of corpus callosum, D...	ORPHA:96170
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Temple Syndrome	Hydrocephalus	ORPHA:254516
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased CSF biopterin level, Gliosis, Decreased CSF protein, Decreased CSF albumin concentratio...	ORPHA:404454
Congenital Muscular Dystrophy With Cerebellar Involvement	Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Occipital encephalocele, Agenesis of c...	ORPHA:370959
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly	OMIM:602200
Amoebiasis Due To Free-Living Amoebae	Infectious encephalitis, Sinusitis, Pustule, Pneumonia	ORPHA:68
Halperin-Birk Syndrome	Ventriculomegaly, Aspiration, Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618651
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Ventriculomegaly	OMIM:252150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal external genitalia, Micropenis, Abnormal ovarian morphology, Abnormality of male externa...	ORPHA:95699
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Progressive ventriculomegaly, Lateral ventricle dilatation, Ventricul...	ORPHA:500150
Gorlin Syndrome	Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:377
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Aminopterin/Methotrexate Embryofetopathy	Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele	ORPHA:1908
Focal Facial Dermal Dysplasia Type Iv

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