Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sperm flagellar 2
Synonyms:
C230086A09Rik

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