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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
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...