Gene: Tubb4b MGI:1915472

Gene Summary

Name:

tubulin, beta 4B class IVB

Synonyms:

Tubb2c, 4930542G03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal coat/ hair morphology	Tubb4b^em1(IMPC)J	HET	Early adult	2.71×10^-05
preweaning lethality, incomplete penetrance	Tubb4b^em1(IMPC)J	HOM	Early adult	0.00
abnormal coat appearance	Tubb4b^em1(IMPC)J	HET	Early adult	9.46×10^-13

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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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Tubb4b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tubb4b (2 diseases)
Human diseases predicted to be associated with Tubb4b (499 diseases)

The table below shows human diseases associated to Tubb4b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leber Congenital Amaurosis		Encephalocele	ORPHA:65
Leber Congenital Amaurosis With Early-Onset Deafness			OMIM:617879

The table below shows human diseases predicted to be associated to Tubb4b by phenotypic similarity.

Disease	Matching phenotypes	Source
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology	OMIM:215520
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein arms, Abnorm...	OMIM:610852
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Absent central microtubular pair morphology of respiratory motile cilia, Bro...	OMIM:620032
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Ciliary Dyskinesia, Primary, 50	Chronic bronchitis, Short sperm flagella, Absent inner dynein arms, Coiled sperm flagella	OMIM:620356
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal respiratory m...	ORPHA:922
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Ciliary Dyskinesia, Primary, 28	Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chronic bronchitis, Recurrent...	OMIM:615505
Ciliary Dyskinesia, Primary, 13	Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bronchiectasis, Absent outer...	OMIM:613193
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Recurren...	OMIM:617091
Ciliary Dyskinesia, Primary, 12	Short stature, Recurrent respiratory infections, Abnormal central microtubular pair morphology of...	OMIM:612650
Ciliary Dyskinesia, Primary, 10	Recurrent sinusitis, Abnormal respiratory motile cilium morphology	OMIM:612518
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,...	OMIM:613808
Ciliary Dyskinesia, Primary, 17	Dynein arm defect of respiratory motile cilia, Bronchiectasis, Recurrent respiratory infections	OMIM:614679
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Chronic bronchit...	OMIM:613807
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Bronchiectasis	OMIM:611884
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms	OMIM:618801
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Bronchiectasis, Absent respiratory ciliary axoneme radial spokes	OMIM:616481
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent sinusitis, Bronchiectasis, Absent outer dynein arms	OMIM:612444
Ciliary Dyskinesia, Primary, 26	Chronic bronchitis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Absent...	OMIM:615500
Ciliary Dyskinesia, Primary, 18	Chronic bronchitis, Absent inner dynein arms, Recurrent sinusitis, Absent outer dynein arms	OMIM:614874
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology	OMIM:225050
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Chronic bronchitis, Recurrent respiratory infections, Bronchiectasis, Absent out...	OMIM:616037
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus	OMIM:166990
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Absent outer dynein arms	OMIM:614017
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Recurrent sinusitis, Chronic bronchitis, Absent inner and outer dynein arms, Rec...	OMIM:614935
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronc...	OMIM:244400
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Short stature, Hypos...	ORPHA:141333
Biemond Syndrome Ii	Short stature, Hydrocephalus	OMIM:210350
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Hydrocephalus	OMIM:258320
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Chronic bronchitis, Recurrent sinusitis, Absent inner and outer dynein arms, Rec...	OMIM:615444
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein ...	OMIM:606763
Ciliary Dyskinesia, Primary, 40	Azoospermia, Absent outer dynein arms	OMIM:618300
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Absent inner and outer dynein arms	OMIM:618063
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida, Abnormal lung lobation	ORPHA:945
Masa Syndrome	Short stature, Ventriculomegaly, Hydrocephalus	OMIM:303350
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism	ORPHA:250994
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Gómez-López-Hernández Syndrome	Short stature, Hydrocephalus	ORPHA:1532
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Temple Syndrome	Precocious puberty, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Short stature	ORPHA:254516
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Diencephalic Syndrome	Long penis, Hydrocephalus	ORPHA:1672
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus	OMIM:610333
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Fried Syndrome	Hydrocephalus	ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hypoplastic female external genitalia, Hydrocephalus, Cryptorchidism	OMIM:618577
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Pallister-Hall-Like Syndrome	Occipital encephalocele, Micropenis, Hydrocephalus, Short stature, Pulmonary hypoplasia	OMIM:241800
Bresek Syndrome	Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Hydro...	ORPHA:85284
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co...	OMIM:616034
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Short stature, H...	ORPHA:93274
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Congenital Toxoplasmosis	Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus	ORPHA:858
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short stature, Hydrocephalus	ORPHA:1516
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus	OMIM:312190
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism	OMIM:601794
Metatropic Dysplasia	Severe short stature, Hydrocephalus, Aplasia/Hypoplasia of the lungs	ORPHA:2635
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short stature, Hypospadias	OMIM:218350
Optic Pathway Glioma	Precocious puberty, Growth delay, Hydrocephalus	ORPHA:2086
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ...	ORPHA:1908
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus	OMIM:614120
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus	ORPHA:272
Temple Syndrome	Precocious puberty, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, H...	OMIM:616222
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Thanatophoric Dysplasia	Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Hyd...	ORPHA:2655
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Primary Ciliary Dyskinesia	Ventriculomegaly, Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infec...	ORPHA:244
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618699
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short stature, Hydrocephalus, Cryptorchidism	ORPHA:2701
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality ...	ORPHA:1926
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Hydrocephalus	OMIM:304100
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Abnormal lung lobation, Hypogonadism, Intrauterine growth retardation, Hydrocep...	OMIM:300514
Intellectual Developmental Disorder, X-Linked 30	Short stature, Hydrocephalus	OMIM:300558
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Williams-Beuren Region Duplication Syndrome	Short stature, Ventriculomegaly, Hydrocephalus, Cryptorchidism	OMIM:609757
Triploidy	Intrauterine growth retardation, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele,...	ORPHA:3376
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism	ORPHA:171839
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Intrauterine growth retardation, Hydrocephalus	ORPHA:1914
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Wa...	OMIM:611134
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus	OMIM:300863
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias	ORPHA:77298
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Amelocerebrohypohidrotic Syndrome	Short stature, Hydrocephalus	ORPHA:1946
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Micropenis, Macroorchidi...	ORPHA:8
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Lethal short-limbed short stature, Neonatal death, Hyd...	OMIM:187600
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613153
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:175700
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m...	OMIM:225790
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Houge-Janssens Syndrome 1	Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus	OMIM:616355
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
3C Syndrome	Ventriculomegaly, Recurrent respiratory infections, Postnatal growth retardation, Hydrocephalus, ...	ORPHA:7
Mirage Syndrome	Microphallus, Aspiration pneumonia, Decreased testicular size, Intrauterine growth retardation, C...	OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Oxoglutaric Aciduria	Short stature, Hydrocephalus	ORPHA:31
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, ...	ORPHA:2075
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Ventriculomegaly, Hydrocephalus	OMIM:109120
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Functioning Gonadotropic Adenoma	Ovarian cyst, Enlarged polycystic ovaries, Macroorchidism, postpubertal, Delayed puberty, Hydroce...	ORPHA:91348
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Emanuel Syndrome	Ventriculomegaly, Intrauterine growth retardation, Cryptorchidism, Recurrent sinusitis, Hydroceph...	OMIM:609029
Meckel Syndrome, Type 6	Occipital encephalocele, Bilobed right lung, Hydrocephalus, Abnormal internal genitalia, Anenceph...	OMIM:612284
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hypospadias, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Ventriculomegaly, Hydrocephalus	OMIM:615630
Axial Mesodermal Dysplasia Spectrum	Short stature, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Abnormal morphology of female inte...	ORPHA:1834
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus	ORPHA:163966
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocephalus, Short stature	OMIM:619833
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Vaginal a...	ORPHA:3301
Hydrolethalus	Abnormal fallopian tube morphology, Anencephaly, Hydrocephalus, Cryptorchidism	ORPHA:2189
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Emanuel Syndrome	Ventriculomegaly, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, M...	ORPHA:96170
Vacterl With Hydrocephalus	Intrauterine growth retardation, Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalu...	ORPHA:3412
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Disproportionate short-trunk short stature, Hydrocephalus	OMIM:613330
Chiari Malformation Type Ii	Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida	OMIM:207950
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Bifid scrotum, Postnatal growth retardation, Intrauterine growth retardation, C...	OMIM:257300
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Hydrocephalus	OMIM:616294
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Communicating hydrocephalus	ORPHA:1861
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Proteus-Like Syndrome	Communicating hydrocephalus, Bronchogenic cyst, Hydrocephalus, Polycystic ovaries	ORPHA:2969
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Disproportionate short stature, Neonatal death, Hydrocephalus, ...	OMIM:616482
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Growth delay, Hydrocephalus	OMIM:620156
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Cole-Carpenter Syndrome 1	Short stature, Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Abnormality of the male genitalia, Growth delay, Hydrocephalus	OMIM:614886
Tetrasomy 5P	Postnatal growth retardation, Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia	ORPHA:3309
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Anomalous pulmonary venous return	ORPHA:2184
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus, Lethal short-limbed short stature, Aplasia/Hypoplasia of the lungs	ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism	ORPHA:1237
Tetraamelia Syndrome 1	Absent external genitalia, Pulmonary hypoplasia, Hydrocephalus, Vaginal atresia, Peripheral pulmo...	OMIM:273395
Fraser Syndrome 3	Small scrotum, Abnormal lung lobation, Hydrocephalus, Stillbirth, Hypoplasia of penis	OMIM:617667
Tetrasomy 15Q26	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malform...	ORPHA:722
Dextrocardia	Abnormal lung lobation, Abnormality of the pulmonary artery, Abnormal reproductive system morphol...	ORPHA:1666
Alkuraya-Kucinskas Syndrome	Small scrotum, Ventriculomegaly, Pleural effusion, Hydrocephalus, Micropenis, Dandy-Walker malfor...	OMIM:617822
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Distal Triplication 15Q	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Hydrocele testis, Abno...	ORPHA:314588
Houge-Janssens Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:616362
Pelvis-Shoulder Dysplasia	Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Ambigu...	ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Intrauterine growth retardation, Growth delay, Hydrocephalus	OMIM:614576
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
1Q44 Microdeletion Syndrome	Short stature, Ventriculomegaly, Growth delay, Hydrocephalus	ORPHA:238769
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus	ORPHA:370959
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Encephalocele, Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia	ORPHA:1865
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus, Pulmonary hypoplasia	OMIM:314390
Trisomy 17P	Intrauterine growth retardation, Hydrocephalus, Short stature, Hypoplasia of penis, Growth delay	ORPHA:261290
Albers-Schönberg Osteopetrosis	Short stature, Hydrocephalus	ORPHA:53
Plasminogen Deficiency, Type I	Ventriculomegaly, Recurrent upper respiratory tract infections, Hydrocephalus, Dandy-Walker malfo...	OMIM:217090
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Micropenis, Hydrocephalu...	ORPHA:500055
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus	ORPHA:2736
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Delayed puberty, Hydrocephalus, Micropenis,...	ORPHA:168569
Gracile Bone Dysplasia	Short stature, Micropenis, Hydrocephalus	OMIM:602361
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Griscelli Syndrome	Short stature, Hydrocephalus, Encephalocele	ORPHA:381
Multiple Sulfatase Deficiency	Short stature, Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Lowry-Maclean Syndrome	Growth delay, Bilateral cryptorchidism, Intrauterine growth retardation, Hydrocephalus, Hypospadias	ORPHA:2409
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Abnormality of the uterus	ORPHA:59315
Desmosterolosis	Severe short stature, Ventriculomegaly, Intrauterine growth retardation, Ambiguous genitalia, Hyd...	ORPHA:35107
Czeizel-Losonci Syndrome	Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Pulmonary hypoplasia	ORPHA:2437
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Trisomy 1Q	Small scrotum, Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus	ORPHA:261344
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation	OMIM:614424
Icf Syndrome	Short stature, Communicating hydrocephalus, Recurrent respiratory infections	ORPHA:2268
Desmosterolosis	Ventriculomegaly, Rhizomelia, Total anomalous pulmonary venous return, Ambiguous genitalia, femal...	OMIM:602398
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal morphology of female internal genitalia, Emphysema, Pulmonary ...	ORPHA:538
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Mucopolysaccharidosis, Type Ii	Severe short stature, Recurrent pneumonia, Hydrocephalus, Short stature, Mild short stature	OMIM:309900
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Postnatal growth retardation, Intrauterine growth retardation...	ORPHA:2306
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis	OMIM:614969
Mucopolysaccharidosis, Type Vii	Severe short stature, Recurrent upper respiratory tract infections, Postnatal growth retardation,...	OMIM:253220
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Hypogonadism, Intrauterine growth retardation, Mild po...	OMIM:101800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus	OMIM:615219
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus	OMIM:617244
Short-Rib Thoracic Dysplasia 12	Atelectasis, Intrauterine growth retardation, Neonatal death, Ambiguous genitalia, Hydrocephalus,...	OMIM:269860
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Thoracoabdominal Syndrome	Hypospadias, Anencephaly, Hydrocephalus, Pulmonary hypoplasia	OMIM:313850
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus	OMIM:207410
Arachnoiditis	Hydrocephalus	ORPHA:137817
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Hydrocephalus, Neonatal short-limb short stature, Encephalocele	OMIM:224400
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Colpocephaly, Chordee, Micropenis, Hydrocephalus, Short stature,...	OMIM:309801
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Pentalogy Of Cantrell	Encephalocele, Anencephaly, Hydrocephalus, Hypospadias, Pulmonary hypoplasia	ORPHA:1335
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:603387
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Micropenis, Holoprosencephaly, Bicornuate uterus	OMIM:264480
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:601499
Walker-Warburg Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Dandy-Walker malformation	ORPHA:899
Spondylocostal Dysostosis 4, Autosomal Recessive	Short stature, Spina bifida occulta, Myelomeningocele, Hydrocephalus	OMIM:613686
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Intrauterine growth retardation, Growth delay, Lateral ventricle dilatation	OMIM:612863
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Streak ovary, Delayed puberty, Abnormal spermatogenesis,...	ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Fg Syndrome Type 1	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short stature, Hypospadias	ORPHA:93932
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Tenorio Syndrome	Ventriculomegaly, Recurrent pneumonia, Hydrocephalus	OMIM:616260
Jacobsen Syndrome	Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Labial hypoplasia, Recurrent resp...	OMIM:147791
Craniopharyngioma	Hypogonadism, Postnatal growth retardation, Proportionate short stature, Hypogonadotropic hypogon...	ORPHA:54595
Cutis Laxa, Autosomal Recessive, Type Iib	Intrauterine growth retardation, Hydrocephalus	OMIM:612940
Endocrine-Cerebroosteodysplasia	Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Ambiguous genitalia, Hydrocephalus...	OMIM:612651
Peho Syndrome	Ventriculomegaly, Hydrocephalus, Recurrent respiratory infections	ORPHA:2836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Encephalocele, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Hypopl...	ORPHA:2166
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Achondroplasia	Rhizomelia, Disproportionate short stature, Hydrocephalus	ORPHA:15
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Micropenis, Hydrocephalus, Cryptorchidism	OMIM:619951
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:60040
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Ventriculomegaly, Hydrocephalus, Cryptorchidism	ORPHA:1812
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Oeis Complex	Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c...	ORPHA:95699
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Short stature, Communicating hydrocephalus	ORPHA:1064
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly, Pulmonary hypopl...	OMIM:616546
Coccidioidomycosis	Pneumonia, Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhac...	ORPHA:228123
Congenital Sialidosis Type 2	Respiratory tract infection, Hydrocephalus	ORPHA:93400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle dilatation, Hydr...	OMIM:619575
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Cerebrooculonasal Syndrome	Ventriculomegaly, Postnatal growth retardation, Encephalocele, Hydrocephalus, Hypoplastic male ex...	OMIM:605627
Multiple Sulfatase Deficiency	Short stature, Hydrocephalus	ORPHA:585
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly...	OMIM:619895
Lateral Meningocele Syndrome	Short stature, Meningocele, Hydrocephalus, Cryptorchidism	OMIM:130720
Achondroplasia	Rhizomelia, Hydrocephalus, Neonatal short-limb short stature, Pulmonary hypoplasia	OMIM:100800
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Atelectasis, Cryptorchidi...	OMIM:620371
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Prominent scrotal raphe, Hydrocephalus, Cryptorchidism	ORPHA:1555
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus, Stillbirth, Short stature, Growth delay	OMIM:259720
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hydrocephalus...	OMIM:123790
Cole-Carpenter Syndrome	Short stature, Intrauterine growth retardation, Communicating hydrocephalus	ORPHA:2050
Cousin Syndrome	Rhizomelia, Disproportionate short stature, Hydranencephaly, Ambiguous genitalia, female, Ambiguo...	OMIM:260660
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Hydrocephalus	ORPHA:2720
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holo...	ORPHA:63259
Dubowitz Syndrome	Abnormal female external genitalia morphology, Postnatal growth retardation, Intrauterine growth ...	ORPHA:235
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Adams-Oliver Syndrome	Hydrocephalus, Pulmonary artery atresia, Encephalocele	ORPHA:974
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Lhermitte-Duclos Disease	Ovarian neoplasm, Hydrocephalus	ORPHA:65285
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Neonatal death	OMIM:620351
Monosomy 18Q	Bilateral cryptorchidism, Micropenis, Hydrocephalus, Short stature, Growth delay	ORPHA:1600
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Intrauterine growth retardation, Hydrocephalus	OMIM:616914
Whipple Disease	Pleuritis, Hydrocephalus	ORPHA:3452
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Growth delay, Lateral ventricle dilatation	OMIM:612301
7Q11.23 Microduplication Syndrome	Hypospadias, Ventriculomegaly, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydrocephalus, S...	ORPHA:96121
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Raine Syndrome	Short stature, Neonatal death, Hydrocephalus, Pulmonary hypoplasia	OMIM:259775
Joubert Syndrome 2	Hydrocephalus, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Encephalocele	OMIM:608091
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Postnatal growth retardation, Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
1Q21.1 Microdeletion Syndrome	Short stature, Intrauterine growth retardation, Hydrocephalus, Cryptorchidism	ORPHA:250989
Meckel Syndrome, Type 1	Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female...	OMIM:249000
Smith-Lemli-Opitz Syndrome	Precocious puberty, Hypospadias, Small scrotum, Bifid scrotum, Abnormal lung lobation, Intrauteri...	OMIM:270400
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Aplasia of the uterus, Hydrocephalus, Micropenis, Growth delay	OMIM:614083
Hurler Syndrome	Short stature, Recurrent respiratory infections, Hydrocephalus	OMIM:607014
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H...	OMIM:241080
Mucopolysaccharidosis Type 1	Short stature, Recurrent respiratory infections, Hydrocephalus	ORPHA:579
Fanconi Anemia	Hypospadias, Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Intrauterine growth retar...	ORPHA:84
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele	ORPHA:2318
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Congenital Syphilis	Pneumonia, Intrauterine growth retardation, Hydrocephalus, CSF pleocytosis	ORPHA:499009
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele	ORPHA:220497
Apert Syndrome	Ventriculomegaly, Ovarian neoplasm, Hydrocephalus	ORPHA:87
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Postnatal growth retardation, Lateral ventricle dilatation	ORPHA:300570
Hurler Syndrome	Short stature, Recurrent respiratory infections, Growth delay, Hydrocephalus	ORPHA:93473
Thakker-Donnai Syndrome	Intrauterine growth retardation, Rectovaginal fistula, Communicating hydrocephalus	ORPHA:1780
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Postnatal growth retardation, Hydrocephalus, Repeated pneumothoraces, Pulmonary hypo...	ORPHA:536467
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Cryptococcosis	Pneumonia, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Hydrocephalus	ORPHA:1546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Aymé-Gripp Syndrome	Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Short stature	ORPHA:1272
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocele testis, Hydrocephalus	OMIM:613603
Mucopolysaccharidosis, Type Vi	Pneumonia, Cervical myelopathy, Recurrent upper respiratory tract infections, Disproportionate sh...	OMIM:253200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short stature, Growth delay, Hydrocephalus	OMIM:616007
Neurooculorenal Syndrome	Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Aqueductal stenosis	OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Hypoplastic male extern...	OMIM:236670
Otopalatodigital Syndrome Type 2	Myelomeningocele, Encephalocele, Hydrocephalus, Hypospadias, Pulmonary hypoplasia	ORPHA:90652
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele	ORPHA:220493
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Abnormal lung lobation, Intrauterine growth retardation,...	OMIM:236680
Marshall-Smith Syndrome	Ventriculomegaly, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Aspirat...	OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele	OMIM:253800
Apert Syndrome	Ventriculomegaly, Rhizomelic arm shortening, Cryptorchidism, Hydrocephalus, Vaginal atresia	OMIM:101200
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Medulloblastoma	Hydrocephalus, Neoplasm of the lung	ORPHA:616
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Holoprosencephaly	Spinal dysraphism, Encephalocele, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the lungs,...	ORPHA:2162
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Ventriculomegaly, Hydrocephalus, Aplasia of the vagina	ORPHA:457284
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Short stature, Rhizomelia, Hydrocephalus	OMIM:245600
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
Cardiofaciocutaneous Syndrome	Short stature, Hydrocephalus, Cryptorchidism	ORPHA:1340
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:614643
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Opitz-Kaveggia Syndrome	Short stature, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:305450
Peters Plus Syndrome	Rhizomelia, Ventriculomegaly, Disproportionate short-limb short stature, Postnatal growth retarda...	ORPHA:709
15Q Overgrowth Syndrome	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Hypospadias, Clitoral hypertrophy, Abnormal penis morphology, Male pseudohe...	ORPHA:2556
Trisomy 8P	Recurrent upper respiratory tract infections, Peripheral pulmonary artery stenosis, Abnormal lung...	ORPHA:264450
Cardiofaciocutaneous Syndrome 1	Short stature, Hydrocephalus	OMIM:115150
Orofaciodigital Syndrome Ii	Short stature, Hydrocephalus	OMIM:252100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Hydrocephalus, Micropenis, ...	OMIM:615287
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Hydrocephalus	ORPHA:220295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Encephalocele	OMIM:613150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the ovary, Micropenis, ...	OMIM:619321
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Marden-Walker Syndrome	Severe short stature, Abnormal penis morphology, Growth delay, Intrauterine growth retardation, H...	ORPHA:2461
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Kabuki Syndrome	Precocious puberty, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short stature, Hypoplasia of...	ORPHA:2322
Fontaine Progeroid Syndrome	Small scrotum, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Hypoplastic labia...	OMIM:612289
Mucopolysaccharidosis Type 3	Ventriculomegaly, Aspiration pneumonia, Respiratory tract infection, Recurrent sinopulmonary infe...	ORPHA:581
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Azoospermia, Delayed puberty, Hydrocephalus, Abnormal pulmonary interstitial mo...	ORPHA:2072
Gorlin Syndrome	Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus, Cryptorchidism	ORPHA:377
Meckel Syndrome	Encephalocele, Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genita...	ORPHA:564
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus...	ORPHA:363958
Stromme Syndrome	Hydrocephalus, Stillbirth	OMIM:243605
Alexander Disease	Precocious puberty, Aqueductal stenosis, Hydrocephalus	ORPHA:58
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Crypt...	ORPHA:2658
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Micropenis, Hydrocephalus, Short stature, Hypergonadotropic hypogonadism	OMIM:227646
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Communicating hydrocephalus, Ovarian cyst	OMIM:618188
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Hydrocephalus, Spina bifida	OMIM:109400
Monosomy 9Q22.3	Ovarian fibroma, Ventriculomegaly, Hydrocephalus	ORPHA:77301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Hydrocephalus	ORPHA:395
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Micropenis, Hydrocephalus, Short stature, Hypospadias	ORPHA:163979
Kabuki Syndrome 1	Anoperineal fistula, Lateral ventricle dilatation, Postnatal growth retardation, Cryptorchidism, ...	OMIM:147920
Fraser Syndrome 1	Clitoral hypertrophy, Myelomeningocele, Encephalocele, Cryptorchidism, Micropenis, Hydrocephalus,...	OMIM:219000
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism	OMIM:182212
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Hydrocephalus	OMIM:618162
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Stillbirth, Pulmonary hypoplasia	OMIM:208150
Orofaciodigital Syndrome I	Short stature, Myelomeningocele, Hydrocephalus, Ovarian cyst	OMIM:311200
22Q11.2 Deletion Syndrome	Abnormality of the uterus, Atelectasis, Abnormal lung lobation, Intrauterine growth retardation, ...	ORPHA:567
Histiocytoid Cardiomyopathy	Pulmonary edema, Hydrocephalus, Polycystic ovaries	ORPHA:137675
Hajdu-Cheney Syndrome	Delayed puberty, Hydrocephalus, Short stature, Recurrent respiratory infections, Hypospadias	ORPHA:955
Acrofacial Dysostosis 1, Nager Type	Short stature, Aqueductal stenosis, Bicornuate uterus, Hydrocephalus	OMIM:154400
Campomelic Dysplasia	Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ...	OMIM:114290
Mend Syndrome	Short stature, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Short stature, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus, Cryptorchidism	OMIM:619512
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Pleural effusion, Hydrocephalus	OMIM:261740
Cockayne Syndrome A	Ventriculomegaly, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Severe postnatal...	OMIM:216400
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Holoprosencephaly 9	Alobar holoprosencephaly, Cryptorchidism, Micropenis, Hydrocephalus, Short stature, Holoprosencep...	OMIM:610829
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Growth delay	OMIM:616084
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Hydrocephalus	ORPHA:228308
Wolf-Hirschhorn Syndrome	Precocious puberty, Hypospadias, Ventriculomegaly, Intrauterine growth retardation, Cryptorchidis...	OMIM:194190
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus	ORPHA:137667
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Hydrocephalus	ORPHA:505248
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Hydrocephalus, ...	ORPHA:322
Hajdu-Cheney Syndrome	Short stature, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:102500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Disproportionate short stature, Lateral ventricle dilatation, Intrauterine growth retardation, Cr...	OMIM:210710
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Growth delay, Hydrocephalus	ORPHA:79282
Osteopathia Striata With Cranial Sclerosis	Short stature, Spina bifida occulta, Hydrocephalus	OMIM:300373
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus, Cryptorchidism	ORPHA:2462
Neurofibromatosis, Type I	Short stature, Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Bifid scrotum, Intrauterine growth retardation, Delayed puberty, Hydrocephalus,...	OMIM:619475
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidi...	OMIM:133540
Osteogenesis Imperfecta	Rhizomelia, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Short stature, Grow...	ORPHA:666
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:91350
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Recurrent respiratory infections, Growth delay, Hydrocephalus	ORPHA:667
Heterotaxy, Visceral, 1, X-Linked	Total anomalous pulmonary venous return, Myelomeningocele, Bilateral trilobed lung, Hydrocephalus...	OMIM:306955
Peters-Plus Syndrome	Rhizomelia, Ventriculomegaly, Disproportionate short-limb short stature, Postnatal growth retarda...	OMIM:261540
Yunis-Varon Syndrome	Clitoral hypertrophy, Postnatal growth retardation, Cryptorchidism, Hypoplastic labia majora, Mic...	ORPHA:3472
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Gaucher Disease	Ventriculomegaly, Delayed puberty, Hydrocephalus, Short stature, Abnormal pulmonary interstitial ...	ORPHA:355
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Tetrasomy 9P	Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Oligozoospermia, Micropenis, Dand...	ORPHA:3310
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Short stature, Hypogonadism, Hydrocephalus, Bilateral cryptorchidism	ORPHA:3042
Semilobar Holoprosencephaly	Aspiration pneumonia, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia, Hydrocephalus, Short stature, Growth delay, Neural tube defect	ORPHA:93924
Pseudoaminopterin Syndrome	Short stature, Hydrocephalus, Cryptorchidism	ORPHA:221120
Microphthalmia With Limb Anomalies	Short stature, Hydrocephalus, Cryptorchidism	ORPHA:1106
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Long penis, Stillbirth, Postnatal growth retardation, Enlarged labia minora...	OMIM:268300
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Long penis, Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Short stat...	OMIM:264090
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Pulmonary artery aneurysm, Bilateral cryptorchidism, Intrauterine growth retard...	OMIM:616462
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Spina bifida, Stillbirth, Short stat...	OMIM:304120
Costello Syndrome	Short stature, Ventriculomegaly, Pneumothorax, Hydrocephalus	OMIM:218040
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:261337
Alpha-Mannosidosis, Infantile Form	Pneumonia, Communicating hydrocephalus	ORPHA:309282
Baller-Gerold Syndrome	Severe short stature, Perineal fistula, Hydrocephalus, Severe intrauterine growth retardation, Sh...	OMIM:218600
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly	ORPHA:2369
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Lateral ventricle dilatation, Abnormal lung lobation, Cryptorchidism, Hydrocephalus,...	OMIM:607872
Neurofibromatosis Type 1	Precocious puberty, Cryptorchidism, Delayed puberty, Hydrocephalus, Short stature	ORPHA:636
Focal Dermal Hypoplasia	Myelomeningocele, Cryptorchidism, Hydrocephalus, Labial hypoplasia, Short stature, Spina bifida o...	OMIM:305600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Intrauterine growth retardation, Cryptorchidism, Mild fetal ventriculomegaly, Chordee, Micropenis...	OMIM:619841
Meningioma	Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:2495
Mucopolysaccharidosis Type 2	Short stature, Communicating hydrocephalus, Growth delay, Recurrent upper respiratory tract infec...	ORPHA:580
Townes-Brocks Syndrome 1	Rectovaginal fistula, Bifid scrotum, Cryptorchidism, Hydrocephalus, Rectoperineal fistula, Bifid ...	OMIM:107480
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Intrauterine growth retardation, Wide penis, Cryptorchidism, Hypogonadotropic hypogo...	ORPHA:3455
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Micropenis, Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Tuberous Sclerosis Complex	Subependymal nodules, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Noncommunicati...	ORPHA:805
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Lateral ventricle dilatation, Neonatal death, Recurrent lower respir...	OMIM:619534
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Spontaneous pneumothorax, Hydrocephalus	OMIM:610168
Coffin-Siris Syndrome 12	Short stature, Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus	OMIM:619325
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Hydrocephalus	OMIM:609192

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