Gene Summary

Name:
spastin
Synonyms:
Spg4

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Spasttm1b(KOMP)Wtsi HOM Early adult 0.00
hydrocephaly Spasttm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

75 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Spast 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 Spast by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Spastic Paraplegia Type 4
Impaired vibration sensation at ankles, Ataxia ORPHA:100985
Spastic Paraplegia 4, Autosomal Dominant
Impaired vibration sensation in the lower limbs OMIM:182601

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Ataxia, Oligomenorrhea OMIM:212840
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Ataxia OMIM:613909
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Hypogonadism, Azoospermia, Primary amenorrhea OMIM:229070
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hyperprolactinemia
Infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Osteomesopyknosis
Infertility OMIM:166450
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Fried Syndrome
Hydrocephalus ORPHA:85335
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Hypogonadism-Cataract Syndrome
Infertility, Hypogonadism, Male hypogonadism OMIM:240950
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Achondroplasia
Hydrocephalus OMIM:100800
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Lissencephaly 5
Hydrocephalus OMIM:615191
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Central Precocious Puberty
Hydrocephalus ORPHA:759
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Nephronophthisis 18
Hydrocephalus OMIM:615862
Temple Syndrome
Hydrocephalus OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Coach Syndrome 2
Hydrocephalus OMIM:619111
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Arachnoiditis
Hydrocephalus ORPHA:137817
Hemangioblastoma
Hydrocephalus ORPHA:252054
Temple Syndrome
Hydrocephalus ORPHA:254516
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:611134
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Crouzon Disease
Hydrocephalus ORPHA:207
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation OMIM:614424
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Gorlin Syndrome
Hydrocephalus ORPHA:377
Muenke Syndrome
Hydrocephalus ORPHA:53271
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Bresek Syndrome
Hydrocephalus ORPHA:85284
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Arnold-Chiari Malformation Type Ii
Ventriculomegaly, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydrocephalus ORPHA:1136
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Griscelli Syndrome
Hydrocephalus ORPHA:381
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus OMIM:617822
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Autosomal Dominant Spastic Paraplegia Type 4
Impaired vibration sensation at ankles, Ataxia ORPHA:100985
Pycnodysostosis
Hydrocephalus ORPHA:763
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus OMIM:300514
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Joubert Syndrome
Hydrocephalus ORPHA:475
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus ORPHA:93932
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Trisomy 17P
Hydrocephalus ORPHA:261290
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Asymmetric ventricles OMIM:616914
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Achondroplasia
Hydrocephalus ORPHA:15
Joubert Syndrome With Ocular Defect
Hydrocephalus ORPHA:220493
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Whipple Disease
Hydrocephalus ORPHA:3452
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Desmosterolosis
Ventriculomegaly, Hydrocephalus ORPHA:35107
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Hurler Syndrome
Hydrocephalus OMIM:607014
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Mirage Syndrome
Hydrocephalus OMIM:617053
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Mucopolysaccharidosis, Type Vi
Hydrocephalus OMIM:253200
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:96121
Dextrocardia
Hydrocephalus ORPHA:1666
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Medulloblastoma
Hydrocephalus ORPHA:616
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:257300
Mohr Syndrome
Hydrocephalus OMIM:252100
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus ORPHA:90652
Desmosterolosis
Ventriculomegaly, Hydrocephalus OMIM:602398
Raine Syndrome
Hydrocephalus OMIM:259775
Holoprosencephaly
Holoprosencephaly, Spinal dysraphism, Hydrocephalus, Dandy-Walker malformation ORPHA:2162
H Syndrome
Hydrocephalus ORPHA:168569
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Coccidioidomycosis
CSF lymphocytic pleiocytosis, Increased CSF protein, CSF pleocytosis, Hypoglycorrhachia, Hydrocep... ORPHA:228123
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus ORPHA:77301
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly OMIM:269860
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:236670
Jacobsen Syndrome
Holoprosencephaly, Hydrocephalus OMIM:147791
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1272
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Hydrocephalus OMIM:617011
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Mucopolysaccharidosis Type 3
Ventriculomegaly, Hydrocephalus ORPHA:581
Monosomy 18Q
Hydrocephalus ORPHA:1600
Cerebrooculonasal Syndrome
Hydrocephalus OMIM:605627
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:457284
Hurler Syndrome
Hydrocephalus ORPHA:93473
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Meckel Syndrome
Dandy-Walker malformation, Lobar holoprosencephaly, Hydrocephalus, Anencephaly ORPHA:564
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Stromme Syndrome
Hydrocephalus OMIM:243605
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:2166
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Craniopharyngioma
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Knobloch Syndrome
Hydrocephalus ORPHA:1571
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2322
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:363958
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Fanconi Anemia
Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:84
22Q11.2 Deletion Syndrome
Spina bifida, Arrhinencephaly, Meningocele, Hydrocephalus, Occipital myelomeningocele ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Cryptococcosis
Hydrocephalus ORPHA:1546
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Meckel Syndrome, Type 1
Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:249000
Joubert Syndrome With Hepatic Defect
Hydrocephalus ORPHA:1454
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Hemifacial Microsomia
Hydrocephalus OMIM:164210
Limb Body Wall Complex
Spina bifida, Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2369
Smith-Lemli-Opitz Syndrome
Holoprosencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:270400
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Osteogenesis Imperfecta
Ventriculomegaly, Hydrocephalus, Noncommunicating hydrocephalus ORPHA:666
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus OMIM:610829
Gaucher Disease
Ventriculomegaly, Hydrocephalus ORPHA:355
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Meningioma
Hydrocephalus ORPHA:2495
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Neurofibromatosis Type 2
Hydrocephalus ORPHA:637
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2072
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Cockayne Syndrome A
Normal pressure hydrocephalus OMIM:216400
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:264090
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Costello Syndrome
Ventriculomegaly, Hydrocephalus OMIM:218040
Semilobar Holoprosencephaly