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:

N/A

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 (840 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		Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra...	OMIM:618751
Primary Ciliary Dyskinesia		Wheezing, Bronchiectasis, Nasal polyposis, Female infertility, Abnormal sperm motility, Chronic s...	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	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile...	OMIM:301059
Spermatogenic Failure 40	Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,...	OMIM:618664
Spermatogenic Failure 47	Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility	OMIM:619102
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia	OMIM:619108
Spermatogenic Failure 54	Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a...	OMIM:619379
Partial Chromosome Y Deletion	Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert...	ORPHA:1646
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 39	Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla...	OMIM:618643
Spermatogenic Failure 51	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro...	OMIM:619177
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,...	ORPHA:529970
Ciliary Dyskinesia, Primary, 34	Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Immotile spe...	OMIM:617091
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility	OMIM:618670
Ciliary Dyskinesia, Primary, 18	Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Immotile sperm, Recurren...	OMIM:614874
Spermatogenic Failure 35	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617592
Ciliary Dyskinesia, Primary, 32	Infertility, Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, R...	OMIM:616481
Spermatogenic Failure 7	Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia	OMIM:612997
Spermatogenic Failure 46	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel...	OMIM:619095
Spermatogenic Failure 5	Male infertility, Functional abnormality of male internal genitalia	OMIM:243060
Ciliary Dyskinesia, Primary, 11	Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ...	OMIM:612649
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 43	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra...	OMIM:618751
Spermatogenic Failure 49	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619094
Spermatogenic Failure 11	Infertility, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Male infert...	OMIM:618801
Ciliary Dyskinesia, Primary, 9	Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Recurrent otitis media, Pneumonia...	OMIM:612444
Ciliary Dyskinesia, Primary, 24	Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis	OMIM:615481
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Ciliary Dyskinesia, Primary, 26	Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms...	OMIM:615500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Infertility, Abnormal sperm morphology	OMIM:608653
Ciliary Dyskinesia, Primary, 29	Infertility, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recur...	OMIM:615872
Ciliary Dyskinesia, Primary, 25	Infertility, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusit...	OMIM:615482
Spermatogenic Failure 38	Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno...	OMIM:618433
Ciliary Dyskinesia, Primary, 13	Infertility, Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, ...	OMIM:613193
Spermatogenic Failure 2	Azoospermia, Oligospermia	OMIM:108420
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest	OMIM:619145
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis, Recurren...	OMIM:612650
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Abnormal ciliary motility, Reduced sperm motility, Wheezing, Bronchiectasis,...	OMIM:613807
Spermatogenic Failure 42	Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil...	OMIM:618745
Spermatogenic Failure 25	Decreased testicular size, Azoospermia, Cryptozoospermia	OMIM:617960
Ciliary Dyskinesia With Defective Radial Spokes	Abnormal respiratory system physiology, Absent respiratory ciliary axoneme radial spokes, Ciliary...	OMIM:242670
Ciliary Dyskinesia, Primary, 6	Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato...	OMIM:610852
Ciliary Dyskinesia, Primary, 22	Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ...	OMIM:615444
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Ciliary Dyskinesia, Primary, 19	Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ...	OMIM:614935
Ciliary Dyskinesia, Primary, 15	Infertility, Recurrent pneumonia, Wheezing, Bronchiectasis, Ciliary dyskinesia, Cough, Immotile s...	OMIM:613808
Ciliary Dyskinesia, Primary, 16	Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ...	OMIM:614017
Young Syndrome	Recurrent bronchitis, Decreased fertility, Obstructive azoospermia, Recurrent sinopulmonary infec...	ORPHA:3471
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Ciliary Dyskinesia With Excessively Long Cilia	Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Nasal po...	OMIM:242680
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Isochromosomy Yp	Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia	ORPHA:98797
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Ciliary Dyskinesia, Primary, 2	Infertility, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent in...	OMIM:606763
Spermatogenic Failure 24	Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor...	OMIM:617959
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Recurre...	OMIM:615067
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Spermatogenic Failure 16	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Ciliary Dyskinesia, Primary, 10	Ciliary dyskinesia, Recurrent sinusitis, Chronic otitis media, Chronic sinusitis, Abnormal respir...	OMIM:612518
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Isochromosomy Yq	Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso...	ORPHA:98798
Ciliary Dyskinesia, Primary, 41	Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent otitis media, Immoti...	OMIM:618449
Ciliary Dyskinesia, Primary, 27	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir...	OMIM:615504
Ciliary Dyskinesia, Primary, 21	Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona...	OMIM:615294
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Ciliary Dyskinesia, Primary, 23	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough...	OMIM:615451
Young Syndrome	Recurrent bronchitis, Azoospermia, Bronchiectasis, Recurrent sinopulmonary infections, Congenital...	OMIM:279000
Ciliary Dyskinesia, Primary, 38	Infertility, Bronchiectasis, Cough, Absent inner and outer dynein arms, Chronic otitis media, Neo...	OMIM:618063
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog...	ORPHA:399808
Ciliary Dyskinesia, Primary, 28	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir...	OMIM:615505
Ciliary Dyskinesia, Primary, 5	Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ...	OMIM:608647
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat...	OMIM:614679
Familial Male-Limited Precocious Puberty	Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Acne	ORPHA:3000
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media...	OMIM:244400
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect...	OMIM:215520
Hypogonadotropic Hypogonadism 24 Without Anosmia	Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism	OMIM:229070
Ciliary Dyskinesia, Primary, 30	Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Cough, Recurrent otitis media, Nasa...	OMIM:616037
Familial Nasal Acilia	Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel...	ORPHA:922
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn...	ORPHA:399805
Ciliary Dyskinesia, Primary, 7	Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re...	OMIM:611884
Ciliary Dyskinesia, Primary, 3	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira...	OMIM:608644
Ciliary Dyskinesia, Primary, 33	Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent otitis media, Atelecta...	OMIM:616726
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia	ORPHA:48
Ciliary Dyskinesia, Primary, 40	Infertility, Cough, Azoospermia, Rhinitis	OMIM:618300
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Ciliary Dyskinesia, Primary, 36, X-Linked	Infertility, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent...	OMIM:300991
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia	OMIM:261550
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat...	OMIM:253240
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus	OMIM:615938
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Oligospermia	OMIM:615703
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo...	OMIM:612692
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Megalencephaly, Hydrocephalus	OMIM:155350
Combined Immunodeficiency, X-Linked	Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis	OMIM:312863
Ring Chromosome Y Syndrome	Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U...	ORPHA:261529
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Otitis media, Atelectasis	OMIM:300455
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep...	OMIM:615937
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Oligospermia, Oligomenorrhea, Ab...	ORPHA:52901
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Gliosis, Increased CSF lactat...	ORPHA:79243
Congenital Neuronal Ceroid Lipofuscinosis	Apnea, Central sleep apnea, Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral ...	ORPHA:168486
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Apnea, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles	OMIM:300864
Polymicrogyria Due To Tubb2B Mutation	Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu...	ORPHA:300573
Immunodeficiency 32B	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis	OMIM:226990
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Conj...	OMIM:601495
Polyrrhinia	Dilation of lateral ventricles, Abnormal third ventricle morphology	ORPHA:141091
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology	OMIM:225050
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent respiratory infections, Chronic sinusitis	OMIM:613502
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Immunodeficiency 51	Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre...	OMIM:613953
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles	ORPHA:101071
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ...	OMIM:604213
Ciliary Dyskinesia, Primary, 35	Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator...	OMIM:617092
Primary Ciliary Dyskinesia	Wheezing, Bronchiectasis, Nasal polyposis, Female infertility, Abnormal sperm motility, Chronic s...	ORPHA:244
Febrile Infection-Related Epilepsy Syndrome	Cough, Sinusitis	ORPHA:163703
Alexander Disease	Increased CSF protein, Hydrocephalus	OMIM:203450
Spermatogenic Failure 4	Azoospermia, Recurrent spontaneous abortion	OMIM:270960
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Spermatogenic Failure 9	Globozoospermia	OMIM:613958
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Recurrent upper and lower respiratory tract infections, Rhinitis, Asthma, Sinu...	ORPHA:70593
Cleft Lip With Or Without Cleft Palate	Recurrent otitis media, Chronic sinusitis	ORPHA:1991
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Dilation of ...	OMIM:616816
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep...	OMIM:618709
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus...	OMIM:600348
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Retinitis Pigmentosa 6	Recurrent respiratory infections, Immotile cilia	OMIM:312612
Hemimegalencephaly	Pachygyria, Gliosis, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral white matter on...	ORPHA:99802
Spermatogenic Failure 15	Non-obstructive azoospermia, Aspiration	OMIM:616950
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol...	OMIM:618781
Ciliary Dyskinesia, Primary, 43	Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat...	OMIM:618699
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Cerebral cortical hemiatrophy, Dilation of lateral ventricles	ORPHA:306669
Bare Lymphocyte Syndrome, Type I	Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp...	OMIM:604571
Aspergillosis	Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost...	ORPHA:1163
Pineocytoma	Increased CSF protein, Hydrocephalus	ORPHA:251912
Fragile X Syndrome	Mandibular prognathia, Chronic otitis media, Macroorchidism, Sinusitis, Otitis media	ORPHA:908
47,Xyy Syndrome	Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Malar flattening, Asthma, Hypospadias,...	ORPHA:8
Developmental And Epileptic Encephalopathy 14	Hypoplasia of the corpus callosum, Microcephaly, Gliosis, Cerebral cortical atrophy	OMIM:614959
Scedosporiosis	Pleuritis, Pericarditis, Arthralgia/arthritis, Endocarditis, Pulmonary fibrosis, Decreased pulmon...	ORPHA:449280
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Glutamine Deficiency, Congenital	Apnea, Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, Neonatal respirator...	OMIM:610015
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis, Cerebral atrophy, Respiratory failure requiring assisted ventilation, Incr...	ORPHA:204
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis	OMIM:614897
Spastic Paraplegia 50, Autosomal Recessive	Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Gliosis	OMIM:612936
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Microcephaly, Gliosis	OMIM:615119
Pontocerebellar Hypoplasia, Type 4	Microcephaly, Respiratory failure, Gliosis	OMIM:225753
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Nephritis, Pyelonephritis, Oligospermia	OMIM:314300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Sinusi...	ORPHA:277
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
D-2-Hydroxyglutaric Aciduria 1	Apnea, Inspiratory stridor, Subependymal cysts, Multifocal cerebral white matter abnormalities, D...	OMIM:600721
Agammaglobulinemia, X-Linked	Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct...	OMIM:300755
Combined Oxidative Phosphorylation Deficiency 14	Gliosis, Ventriculomegaly, Cerebral atrophy, Microcephaly, Diffuse cerebral atrophy	OMIM:614946
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Normal pressure hydrocephalus	OMIM:611808
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov...	OMIM:307200
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral atrophy, Gliosis	OMIM:618369
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Autosomal Agammaglobulinemia	Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc...	ORPHA:33110
Diabetes Insipidus, Neurohypophyseal	Central diabetes insipidus, Gliosis	OMIM:125700
Isolated Agammaglobulinemia	Skin rash, Pneumonia, Recurrent respiratory infections, Inflammatory abnormality of the eye, Recu...	ORPHA:229717
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus	OMIM:166990
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles	ORPHA:77299
Pontocerebellar Hypoplasia, Type 13	Sleep apnea, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Pleural effusion, Asthma...	OMIM:618606
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ...	OMIM:618736
Mental Retardation, Autosomal Dominant 48	Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati...	OMIM:617751
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Ciliary Dyskinesia, Primary, 42	Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R...	OMIM:618695
Lissencephaly, X-Linked, 2	Pachygyria, Gliosis, Wide anterior fontanel, Ventriculomegaly, Agenesis of corpus callosum, Lisse...	OMIM:300215
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph...	ORPHA:2703
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Male infertility	OMIM:618948
Yellow Nail Syndrome	Dyspnea, Pleuritis, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a...	ORPHA:662
Spermatogenic Failure 28	Decreased testicular size, Azoospermia	OMIM:618086
Adducted Thumbs Syndrome	Cerebral dysmyelination, Myelin-dependent gliosis, Microcephaly, Respiratory insufficiency	OMIM:201550
Hydrocephalus, Congenital, 3, With Brain Anomalies	Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617967
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog...	OMIM:614837
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles	OMIM:618890
Autosomal Dominant Non-Syndromic Intellectual Disability	Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ...	ORPHA:178469
Developmental And Epileptic Encephalopathy 36	Microcephaly, Cerebral atrophy, Hydrocephalus	OMIM:300884
Dandy-Walker Syndrome	Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Hemidystonia-Hemiatrophy Syndrome	Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology	ORPHA:306741
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl...	ORPHA:284417
Androgen Insensitivity, Partial	Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia...	OMIM:312300
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Ciliary dyskinesia, Recurrent respiratory infections	ORPHA:1882
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles	OMIM:602200
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D...	ORPHA:320391
Bilateral Generalized Polymicrogyria	Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A...	ORPHA:208447
Hemochromatosis, Type 2A	Infertility, Azoospermia, Amenorrhea, Hypogonadotropic hypogonadism, Arthritis	OMIM:602390
Leukoencephalopathy, Hereditary Diffuse, With Spheroids	Abnormal cerebral white matter morphology, Gliosis, Leukoencephalopathy	OMIM:221820
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Bronchiectasis, Pneumonia, Malar flattening, Sinusitis, Micrognathia, Anteverted nare...	OMIM:242860
Cach Syndrome	T2 hypointense thalamus, Cerebral atrophy, Primary amenorrhea, Secondary amenorrhea, Microcephaly...	ORPHA:135
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles	ORPHA:363654
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,...	ORPHA:2185
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Increased CSF protein, Cerebral edema, Gliosis, Pneumonia	OMIM:608033
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum	OMIM:617296
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Gliosis, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Dilation of lateral ven...	OMIM:607485
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus	OMIM:617244
Leukoencephalopathy With Vanishing White Matter	Gliosis, Primary amenorrhea, Secondary amenorrhea, Cessation of head growth, Leukoencephalopathy,...	OMIM:603896
Leigh Syndrome	Gliosis, Focal substantia nigra T2 hyperintensity, Increased CSF lactate, Respiratory insufficien...	OMIM:256000
Adrenal Hypoplasia, Congenital	Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty	OMIM:300200
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Apneic episodes in infancy, Microcephaly, Dandy-Walker malformation, Di...	ORPHA:3078
Felty Syndrome	Pleuritis, Pericarditis, Pulmonary fibrosis, Chronic otitis media, Synovitis, Sinusitis, Episcler...	ORPHA:47612
Choanal Atresia	Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa...	ORPHA:137914
Masa Syndrome	Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:303350
48,Xyyy Syndrome	Enamel hypoplasia, Male hypogonadism, Azoospermia, Recurrent upper respiratory tract infections, ...	ORPHA:99329
Cystic Fibrosis	Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Recurrent bronchopulmonary infections, Chro...	OMIM:219700
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
X-Linked Agammaglobulinemia	Skin rash, Abnormal lung morphology, Chronic otitis media, Sinusitis, Conjunctivitis, Hepatitis, ...	ORPHA:47
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla...	ORPHA:300570
Microsporidiosis	Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Myocarditis, Sinusitis, Myositis, Abnormal fa...	ORPHA:2552
Myotonic Dystrophy 2	Hypogonadism, Oligospermia	OMIM:602668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	OMIM:614830
Combined Oxidative Phosphorylation Defect Type 39	Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Abnormal cereb...	ORPHA:565624
Slc35A2-Cdg	Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ...	ORPHA:356961
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the...	ORPHA:2148
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613154
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Microcephaly, Progressive microcephaly, Gliosis, Apnea	OMIM:614498
Functioning Gonadotropic Adenoma	Infertility, Abnormality of the menstrual cycle, Ovarian cyst, Oligospermia, Amenorrhea, Impotenc...	ORPHA:91348
Fusariosis	Peritonitis, Pulmonary opacity, Bronchiectasis, Pneumonia, Maculopapular exanthema, Sinusitis, My...	ORPHA:228119
Rheumatic Fever	Endocarditis, Pericarditis, Abnormal pleura morphology, Epistaxis, Respiratory insufficiency, Sin...	ORPHA:3099
Granulomatosis With Polyangiitis	Pleuritis, Cough, Chronic otitis media, Uveitis, Elevated bronchoalveolar lavage fluid neutrophil...	OMIM:608710
Primary Non-Essential Cutis Verticis Gyrata	Microcephaly, Periventricular leukomalacia, Gliosis	ORPHA:357225
Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi...	ORPHA:754
Ataxia-Telangiectasia	Recurrent bronchitis, Bronchiectasis, Female hypogonadism, Sinusitis, Abnormal spermatogenesis	OMIM:208900
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Arthritis	OMIM:300310
Immunodeficiency 15A	Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneous candidiasis...	OMIM:618204
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Gliosis, Hypoplasia of the corpus callosum, Cerebral atrophy, Basal ganglia calcification, Leukoe...	OMIM:221770
Lead Poisoning	Abnormality of the menstrual cycle, Infertility, Skin rash, Reduced sperm motility, Delayed erupt...	ORPHA:330015
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Respiratory insufficiency, Cere...	OMIM:610333
Cerebrooculofacioskeletal Syndrome 1	Microcephaly, Agenesis of corpus callosum, Gliosis	OMIM:214150
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles	ORPHA:420179
Hypogonadotropic Hypogonadism 23 Without Anosmia	Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ...	OMIM:228300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Cyclic Neutropenia	Peritonitis, Respiratory tract infection, Tooth abscess, Periodontitis, Perianal abscess, Sinusit...	ORPHA:2686
Premature Ovarian Failure 10	Azoospermia, Primary amenorrhea, Hypoplasia of the ovary, Decreased testicular size, Premature ov...	OMIM:612885
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Whim Syndrome	Severe periodontitis, Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tr...	ORPHA:51636
Complement Factor I Deficiency	Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Glomerulonephritis, Recurrent strept...	OMIM:610984
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Endocarditis, Increased inflammatory response, Abnormal pleura morphology, Cough, Nasa...	ORPHA:183
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ...	ORPHA:331235
Lacrimal Duct Defect	Conjunctivitis, Sinusitis	OMIM:149700
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ...	ORPHA:488627
Lissencephaly 5	Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w...	OMIM:615191
Keutel Syndrome	Recurrent bronchitis, Emphysema, Recurrent otitis media, Peripheral pulmonary artery stenosis, Pu...	OMIM:245150
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, R...	OMIM:613153
Nijmegen Breakage Syndrome	Recurrent bronchitis, Bronchiectasis, Long nose, Choanal atresia, Otitis media, Sinusitis, Recurr...	OMIM:251260
Congenital Hypothyroidism	Sinusitis, Hypogonadism, Tracheoesophageal fistula, Abnormality of reproductive system physiology	ORPHA:442
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly	OMIM:614870
Holoprosencephaly 5	Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly...	OMIM:609637
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Gliosis	OMIM:604218
Pettigrew Syndrome	Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-...	OMIM:304340
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Pontocerebellar Hypoplasia, Type 2A	Gliosis, Abnormal periventricular white matter morphology, Abnormal cerebral white matter morphol...	OMIM:277470
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Open operculum, Apnea, Tachypnea, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral...	ORPHA:397715
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B...	ORPHA:90797
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Hydrocephalus	ORPHA:26
Bacterial Toxic-Shock Syndrome	Peritonitis, Skin rash, Respiratory tract infection, Respiratory distress, Pneumonia, Septic arth...	ORPHA:36234
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Familial Acute Necrotizing Encephalopathy	Abnormality of thalamus morphology, Gliosis, Increased CSF protein, Abnormal pattern of respirati...	ORPHA:88619
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus	ORPHA:141333
Paganini-Miozzo Syndrome	Dilation of lateral ventricles	OMIM:301025
Huntington Disease	Gliosis	OMIM:143100
Achondroplasia	Upper airway obstruction, Megalencephaly, Hydrocephalus	OMIM:100800
Huntington Disease-Like 1	Cerebral cortical atrophy, Ventriculomegaly, Gliosis, Abnormality of the basal ganglia	ORPHA:157941
Intellectual Developmental Disorder, X-Linked 12	Microcephaly, Ventriculomegaly, Gliosis, Abnormal cerebral white matter morphology	OMIM:300957
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Dilation of lateral ventricles	ORPHA:85290
Fried Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:85335
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Gliosis, Diffuse leukoencephalopathy, Autonomic erectile dysfunction, Im...	OMIM:169500
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh...	ORPHA:572798
Frontal Encephalocele	Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification	ORPHA:1931
Hydrolethalus Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Gliosis	OMIM:105550
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification	ORPHA:73256
Granulomatosis With Polyangiitis	Prostatitis, Skin rash, Restrictive ventilatory defect, Chronic pulmonary obstruction, Pericardit...	ORPHA:900
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Dilation of lateral ventricles	OMIM:300952
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Spinocerebellar Ataxia, Autosomal Recessive 2	Gliosis	OMIM:213200
Microcephaly 10, Primary, Autosomal Recessive	Microcephaly, Cerebral atrophy, Gliosis	OMIM:615095
Combined Oxidative Phosphorylation Deficiency 24	Gliosis, Increased CSF lactate, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corp...	OMIM:616239
Microscopic Polyangiitis	Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Epistaxis, Episcl...	ORPHA:727
Gapo Syndrome	Delayed eruption of teeth, Oligospermia, Amenorrhea, Mandibular prognathia, Choanal atresia, Dysm...	ORPHA:2067
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia	ORPHA:2183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	ORPHA:324416
Generalized Glucocorticoid Resistance Syndrome	Infertility, Ambiguous genitalia, Oligospermia, Oligomenorrhea, Precocious puberty, Acne, Female ...	ORPHA:786
Pituitary Dermoid And Epidermoid Cysts	Hypogonadism, Oligomenorrhea, Amenorrhea, Oligospermia	ORPHA:91351
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Dilation of lateral ventricles	OMIM:619278
Craniotelencephalic Dysplasia	Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,...	ORPHA:1528
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Cavum septum pellucidum, Wide anterior fontanel, Abnormal cerebral white matter morphology, Abnor...	ORPHA:457279
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology	ORPHA:488635
Chronic Granulomatous Disease	Chronic pulmonary obstruction, Recurrent respiratory infections, Otitis media, Inflammatory abnor...	ORPHA:379
Good Syndrome	Dyspnea, Bronchiectasis, Cough, Sinusitis, Recurrent skin infections, Recurrent respiratory infec...	ORPHA:169105
Pick Disease Of Brain	Gliosis	OMIM:172700
Immunodeficiency 20	Wheezing, Recurrent otitis media, Recurrent sinusitis, Recurrent viral upper respiratory tract in...	OMIM:615707
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Asthma, Thick corpus ...	ORPHA:544488
Immunodeficiency By Defective Expression Of Mhc Class Ii	Skin rash, Chronic hepatitis due to cryptosporidium infection, Sclerosing cholangitis, Acute otit...	ORPHA:572
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:352682
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Increased CSF lactate, Tachypnea, Gliosis	OMIM:220111
Pontocerebellar Hypoplasia, Type 15	Simplified gyral pattern, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the cor...	OMIM:619302
Spinocerebellar Ataxia 17	Diffuse cerebral atrophy, Gliosis	OMIM:607136
Bloom Syndrome	Skin rash, Respiratory tract infection, Azoospermia, Chronic pulmonary obstruction, Oligospermia,...	ORPHA:125
Cleidocranial Dysplasia	Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Sleep apnea, Mandibu...	ORPHA:1452
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Dilation of lateral ventricles	OMIM:618914
Vacterl Association With Hydrocephalus	Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Hydrocephalus	OMIM:276950
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:304100
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Ehlers-Danlos Syndrome, Classic Type, 2	Recurrent sinusitis, Hemoptysis	OMIM:130010
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
L-2-Hydroxyglutaric Aciduria	Corpus callosum atrophy, Gliosis, Leukoencephalopathy	OMIM:236792
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus	ORPHA:945
Autosomal Recessive Spastic Paraplegia Type 11	Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca...	ORPHA:2822
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Episodic tachypnea, Apneic episodes in infancy, Hydrocephalus, Dandy-Walker mal...	ORPHA:163961
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, R...	OMIM:616576
Distal Monosomy 10Q	Cavum septum pellucidum, Microcephaly, Dilation of lateral ventricles, Spina bifida occulta	ORPHA:96148
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l...	ORPHA:293725
46,Xy Partial Gonadal Dysgenesis	Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k...	ORPHA:251510
Basel-Vanagaite-Smirin-Yosef Syndrome	Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Recurrent pneumonia...	ORPHA:464738
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus	OMIM:602501
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia...	ORPHA:99429
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Bicornuate uterus, Hypoplasia of the uterus, Azoospermia	OMIM:601076
Frontotemporal Dementia With Motor Neuron Disease	Neuronal loss in the cerebral cortex, Gliosis	ORPHA:275872
46,Xx Sex Reversal 2	Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus...	OMIM:278850
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Dand...	OMIM:225790
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gliosis	OMIM:604484
Riddle Syndrome	Chronic sinusitis, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pneum...	ORPHA:420741
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Apnea, Progressive ventriculomegaly, Gliosis, Hypoplasia of the corpus callosum, Cerebral atrophy	OMIM:602613
Kleefstra Syndrome Due To A Point Mutation	Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morp...	ORPHA:261652
Multiple Acyl-Coa Dehydrogenase Deficiency	Pachygyria, Wide anterior fontanel, Gliosis, Respiratory distress, Neonatal death	OMIM:231680
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent pneumonia	OMIM:613494
Hypohidrotic Ectodermal Dysplasia	Cough, Keratoconjunctivitis sicca, Sinusitis, Eczema, Anteverted nares, Inflammatory abnormality ...	ORPHA:238468
Cog5-Cdg	Microcephaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Dilation of lateral ventri...	ORPHA:263487
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Mucopolysaccharidosis Type 6	Chronic otitis media, Recurrent upper respiratory tract infections, Sinusitis	ORPHA:583
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus	ORPHA:397951
Pgm3-Cdg	Chronic sinusitis, Esophagitis, Allergic rhinitis, Cutaneous abscess, Atopic dermatitis, Bronchie...	ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Panniculitis, Conjunctivitis, Sinusitis, Myositis, Arthritis	OMIM:617591
Glutaric Acidemia I	Dilation of lateral ventricles	OMIM:231670
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Prominent nose, Mandibular prognathia, Oligospermia	OMIM:614813
Purine Nucleoside Phosphorylase Deficiency	Recurrent upper respiratory tract infections, Pneumonia, Sinusitis, Recurrent lower respiratory t...	OMIM:613179
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormality of the menstrual cycle, Chronic pulmonary obstru...	ORPHA:906
Pallister-Hall-Like Syndrome	Hypothalamic hamartoma, Glioma, Hydrocephalus, Anterior hypopituitarism	OMIM:241800
Normosmic Congenital Hypogonadotropic Hypogonadism	Cryptorchidism, Male hypogonadism, Azoospermia, Non-obstructive azoospermia, Hypoplasia of the ut...	ORPHA:432
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly, Respiratory...	OMIM:617193
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp...	ORPHA:2182
46,Xx Sex Reversal 1	Ovotestis, Azoospermia, Sex reversal, Bicornuate uterus, Hypospadias, True hermaphroditism, Clito...	OMIM:400045
Aicardi Syndrome	Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Polymicrogyria, Recurrent...	OMIM:304050
Kohlschutter-Tonz Syndrome-Like	Secondary microcephaly, Ventriculomegaly, Microcephaly, Dilation of lateral ventricles	OMIM:619229
Papillary Tumor Of The Pineal Region	Increased CSF protein, Hydrocephalus	ORPHA:251915
Congenital Toxoplasmosis	Microcephaly, Ventriculomegaly, Hydrocephalus, Cerebral calcification	ORPHA:858
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Microcephaly, Gliosis, Decreased response to growth hormone stimuation test	ORPHA:457240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl...	OMIM:615287
Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Abnormal spermatogenesis	ORPHA:90646
Craniofacial Dyssynostosis	Hypoplasia of the corpus callosum, Hydrocephalus	ORPHA:1516
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Subcortical white matter calcifications, Diffuse cerebral atrophy, Respiratory failure, Gliosis	ORPHA:3240
Hemochromatosis, Type 1	Azoospermia, Amenorrhea, Pleural effusion, Impotence, Testicular atrophy, Hypogonadotropic hypogo...	OMIM:235200
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Immunodeficiency 13	Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s...	OMIM:615518
Zygomycosis	Peritonitis, Pericarditis, Cough, Sinusitis, Myocarditis, Air crescent sign, Endocarditis, Epista...	ORPHA:73263
Mucopolysaccharidosis Type 1	Apnea, Cough, Chronic otitis media, Recurrent respiratory infections, Sinusitis, Abnormal nasal m...	ORPHA:579
Mosaic Trisomy 1	Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles	ORPHA:1692
Igg4-Related Ophthalmic Disease	Prostatitis, Abnormality of the sphenoid sinus, Abnormal lung morphology, Thyroiditis, Orchitis, ...	ORPHA:449563
Immunodeficiency, Common Variable, 1	Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con...	OMIM:607594
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Polymicrogyria, Megalencephaly, Hydrocephalus	ORPHA:83473
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Sleep apnea, Wide anterior fontanel, Hypoplasia of the corpus callosum, Megalencephaly, Central a...	OMIM:616482
Autosomal Recessive Spastic Paraplegia Type 66	Hypoplasia of the corpus callosum, Colpocephaly	ORPHA:401815
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse...	OMIM:617542
Central Precocious Puberty	Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus	ORPHA:759
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum	OMIM:307000
Igg4-Related Kidney Disease	Prostatitis, Abnormal lung morphology, Pleuritis, Pericarditis, Arteritis, Interstitial pneumonit...	ORPHA:449395
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:618577
Bloom Syndrome	Cryptorchidism, Decreased fertility in females, Azoospermia, Agenesis of maxillary lateral inciso...	OMIM:210900
Dandy-Walker Malformation With Postaxial Polydactyly	Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus, Dandy-Walk...	OMIM:220220
Machado-Joseph Disease	Dilated fourth ventricle, Gliosis	OMIM:109150
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Recurrent bacterial skin infections, Recurrent sinusitis, Chronic otitis media...	ORPHA:217390
Coach Syndrome 2	Apneic episodes in infancy, Agenesis of corpus callosum, Hydrocephalus	OMIM:619111
Multiple Acyl-Coa Dehydrogenase Deficiency	Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Gliosis, Wide anterior fontane...	ORPHA:26791
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus, Cerebral calcification	ORPHA:2770
Congenital Muscular Dystrophy, Fukuyama Type	Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Hydrocephalus	ORPHA:272
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis	OMIM:300857
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Hypogonadotropic ...	ORPHA:177907
Spinocerebellar Ataxia, X-Linked 3	Episodic hypoventilation, Episodic respiratory distress, Gliosis	OMIM:301790
Melanosis, Neurocutaneous	Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma	OMIM:249400
Pelizaeus-Merzbacher Disease, Connatal Form	Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure, Gliosis	ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Gliosis	OMIM:256600
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly	OMIM:615219
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Abnormal cerebral white matter morphology, Cerebral edema, Gliosis, Cerebral atrophy	OMIM:618321
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Colitis	OMIM:613960
Immunodeficiency, Common Variable, 3	Conjunctivitis, Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections	OMIM:613493
Wiskott-Aldrich Syndrome, Autosomal Dominant	Inflammation of the large intestine, Recurrent upper respiratory tract infections, Epistaxis, Pne...	OMIM:600903
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism	Gliosis, Central hypoventilation	OMIM:118301
Leukocyte Adhesion Deficiency	Peritonitis, Severe periodontitis, Osteomyelitis, Respiratory tract infection, Bronchiectasis, Ch...	ORPHA:2968
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus	ORPHA:261102
Igg4-Related Pachymeningitis	Abnormal lung morphology, Dyspnea, Lymphadenitis, Pancreatitis, Sinusitis, Nephritis, Parotitis	ORPHA:449427
Thanatophoric Dysplasia Type 2	Holoprosencephaly, Ventriculomegaly, Hydrocephalus, Respiratory insufficiency	ORPHA:93274
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Myelomeningocele, Hydrocephalus, Spina bifida occulta	OMIM:183802
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Abnormal cerebral white matter morphology, Hydrocephalus	OMIM:600991
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus	ORPHA:380
Molybdenum Cofactor Deficiency, Complementation Group B	Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Microcephaly	OMIM:252160
Leigh Syndrome	Focal T2 hyperintense basal ganglia lesion, Gliosis, Increased CSF lactate, Hypoplasia of the cor...	ORPHA:506
Weaver Syndrome	Dilation of lateral ventricles, Absent septum pellucidum	OMIM:277590
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary ame...	ORPHA:79239
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Immunodeficiency, Common Variable, 2	Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis...	OMIM:240500
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Respiratory insufficiency	OMIM:187600
Arnold-Chiari Malformation Type Ii	Apnea, Agenesis of corpus callosum, Inspiratory stridor, Ventriculomegaly, Pneumonia, Aqueductal ...	ORPHA:1136
Poikiloderma With Neutropenia	Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent pneumonia, Malar flattenin...	OMIM:604173
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Polymicrogyria, Colpocephaly	OMIM:618731
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus, Respiratory insufficiency	ORPHA:2655
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Hydrocephalus	OMIM:601794
Krabbe Disease	Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus	OMIM:245200
Temple Syndrome	Hydrocephalus	OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Agenesis of corpus callosum, Type II lissencephaly, Respiratory insufficiency due to muscle weakn...	OMIM:615249
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Dilation of lateral ventricles, Recurrent pneumonia	OMIM:612301
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:175700
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Polymicrogyria, Hydrocephalus, Leukoencephalopathy	OMIM:615181
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Mental Retardation, Autosomal Dominant 36	Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus	OMIM:616362
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Clitoral hypertrophy, Decreased fertility...	ORPHA:90791
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:218350
Mental Retardation, Buenos Aires Type	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:249630
Myopathy, Centronuclear, X-Linked	Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa...	OMIM:310400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Asthma, Pneumonia, Sinusitis	OMIM:102700
Cardiofaciocutaneous Syndrome 4	Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology	OMIM:615280
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency	OMIM:273730
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Inspiratory stridor, Myelomeningocele, Agenesis of corpus callosum	OMIM:207950
Mental Retardation, Autosomal Dominant 35	Ventriculomegaly, Hydrocephalus	OMIM:616355
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Irregula...	ORPHA:90793
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Ventricul...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Respiratory failure, Agyria,...	OMIM:616538
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:612940
45,X/46,Xy Mixed Gonadal Dysgenesis	Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Male infertility, Micropenis, M...	ORPHA:1772
Edinburgh Malformation Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:93262
Coccidioidomycosis	Peritonitis, Skin rash, Pericarditis, Cough, Abnormal sperm morphology, Pneumonia, Osteomyelitis,...	ORPHA:228123
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Recurrent resp...	OMIM:300853
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb...	OMIM:618476
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Abnormality of the septum pellucidum, Cerebral atrophy, Hydrocephalus	ORPHA:171839
Immunodeficiency 56	Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni...	OMIM:615207
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Astrocytosis, Increased CSF protein, Gliosis, Cerebral cortical neurodegeneration	OMIM:203700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Cryptorchidism, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Decreased testicu...	OMIM:308700
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Hydrocephalus	OMIM:269920
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Microcephaly	OMIM:252150
Hydrocephalus With Associated Malformations	Hydrocephalus	OMIM:236640
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Cryptorchidism, Bulbous nose, Short nose, Oligospermia, Abnormal ovarian mor...	ORPHA:95699
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:109120
Emanuel Syndrome	Infertility, Agenesis of corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnormal cerebral w...	ORPHA:96170
16P13.2 Microdeletion Syndrome	Sleep apnea, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, ...	ORPHA:500055
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Polymicrogyria, Thick corpus callo...	OMIM:603387
Keutel Syndrome	Underdeveloped nasal alae, Recurrent otitis media, Recurrent sinusitis, Tracheal atresia, Pulmona...	ORPHA:85202
Shwachman-Diamond Syndrome	Skin rash, Carious teeth, Delayed eruption of teeth, Pneumonia, Sinusitis, Eczema, Osteomyelitis	ORPHA:811
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Colitis, Recurrent sinusitis, Recurrent upper respira...	OMIM:613101
Progressive Supranuclear Palsy	Cerebral cortical atrophy, Gliosis	ORPHA:683
Bresek Syndrome	Microcephaly, Neonatal death, Hydrocephalus	ORPHA:85284
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Respiratory insufficiency	ORPHA:1914
Amoebiasis Due To Free-Living Amoebae	Respiratory tract infection, Pustule, Pneumonia, Encephalitis, Sinusitis	ORPHA:68
Focal Facial Dermal Dysplasia Type Iv	Microcephaly, Hydrocephalus	ORPHA:398189
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy	Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus, Dandy-Walk...	OMIM:220219
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Gliosis, Decreased CSF protein, Decreased CSF 5-hydroxyindolacetic acid, Ventriculomegaly, Decrea...	ORPHA:404454
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Crouzon Disease	Hydrocephalus, Respiratory insufficiency	ORPHA:207
Gorlin Syndrome	Hypogonadotropic hypogonadism, Hydrocephalus, Cerebral calcification	ORPHA:377
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus	OMIM:613603
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Tay-Sachs Disease	Hypointensity of cerebral white matter on MRI, Gliosis, Ventriculomegaly, Abnormal thalamic MRI s...	ORPHA:845
Temple Syndrome	Hydrocephalus, Decreased response to growth hormone stimuation test	ORPHA:254516
D-Bifunctional Protein Deficiency	Gliosis, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral d...	OMIM:261515
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus	OMIM:614195
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men...	ORPHA:1908
Achondroplasia	Restrictive ventilatory defect, Central sleep apnea, Wide anterior fontanel, Hypoxemia, Obstructi...	ORPHA:15
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Wide anterior fontanel	ORPHA:1860
Aromatase Deficiency	Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch...	ORPHA:91
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Walker-Warburg Syndrome	Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr...

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