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

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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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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
Paresthesia, Distal sensory impairment, Sensory ataxia 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
Ataxia, Impaired proprioception, Impaired vibratory sensation 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 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
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Ataxia, Oligomenorrhea, Infertility OMIM:212840
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Ataxia, Testicular atrophy OMIM:613909
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea OMIM:615555
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydroce... OMIM:609637
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
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:613154
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Familial Hyperprolactinemia
Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus ORPHA:324416
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Fried Syndrome
Hydrocephalus ORPHA:85335
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Hydrocephalus ORPHA:2185
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:304340
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:2182
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Achondroplasia
Hydrocephalus OMIM:100800
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus OMIM:225790
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus OMIM:307000
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:613153
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Central Precocious Puberty
Hydrocephalus ORPHA:759
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:615287
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:163961
Nephronophthisis 18
Hydrocephalus OMIM:615862
Temple Syndrome
Hydrocephalus OMIM:616222
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Encephalocele, Hydrocephalus ORPHA:93274
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Meckel Syndrome, Type 3
Occipital encephalocele, Dandy-Walker malformation, Hydrocephalus OMIM:607361
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Meckel Syndrome, Type 4
Anencephaly, Dandy-Walker malformation, Hydrocephalus, Meningocele, Encephalocele OMIM:611134
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Coach Syndrome 2
Hydrocephalus OMIM:619111
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Meningocele, Encephalocele ORPHA:1908
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Arachnoiditis
Hydrocephalus ORPHA:137817
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Temple Syndrome
Hydrocephalus ORPHA:254516
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Hemangioblastoma
Hydrocephalus ORPHA:252054
Joubert Syndrome 14
Dandy-Walker malformation, Encephalocele, Hydrocephalus OMIM:614424
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Ventriculomegaly, Dilated fourth ventricle, Hydrocephalus ORPHA:370959
Crouzon Syndrome
Hydrocephalus ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:615219
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Gorlin Syndrome
Hydrocephalus ORPHA:377
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Bresek Syndrome
Hydrocephalus ORPHA:85284
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Triploidy
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:3376
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:1647
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Meningocele ORPHA:1136
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
3C Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:7
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Czeizel-Losonci Syndrome
Spina bifida occulta, Spina bifida, Myelomeningocele, Hydrocephalus ORPHA:2437
Emanuel Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:96170
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hydrocephalus OMIM:612938
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus OMIM:617822
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Hydrocephalus OMIM:217090
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:459061
Autosomal Dominant Spastic Paraplegia Type 4
Impaired vibration sensation at ankles, Ataxia ORPHA:100985
Iniencephaly
Myelomeningocele, Anencephaly, Dandy-Walker malformation, Spinal dysraphism, Spina bifida, Hydroc... ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Walker-Warburg Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:899
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus OMIM:300514
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Arachnoid Cyst
Enlarged fossa interpeduncularis, Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:2356
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Encephalocele, Hydrocephalus OMIM:264480
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Ventriculomegaly, Encephalocele, Hydrocephalus OMIM:614643
Achondroplasia
Hydrocephalus ORPHA:15
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus ORPHA:93932
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus ORPHA:1335
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Encephalocele, Hydrocephalus OMIM:608091
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Trisomy 17P
Hydrocephalus ORPHA:261290
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Hydrocephalus OMIM:613001
Desmosterolosis
Ventriculomegaly, Hydrocephalus ORPHA:35107
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Encephalocele, Hydrocephalus OMIM:613150
Whipple Disease
Hydrocephalus ORPHA:3452
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Encephalocele, Hydrocephalus OMIM:253800
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Distal Tetrasomy 15Q
Dandy-Walker malformation, Hydrocephalus ORPHA:314588
Vacterl With Hydrocephalus
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hydrocephalus OMIM:259720
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly ORPHA:25
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus OMIM:616914
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus OMIM:610828
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Dilation of lateral ventricles ORPHA:300570
Desmosterolosis
Ventriculomegaly, Hydrocephalus OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Meningoencep... OMIM:236670
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Mirage Syndrome
Hydrocephalus OMIM:617053
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus OMIM:616546
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Hurler Syndrome
Hydrocephalus OMIM:607014
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
15Q Overgrowth Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:314585
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Otopalatodigital Syndrome Type 2
Myelomeningocele, Encephalocele, Hydrocephalus ORPHA:90652
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Anencephaly, Hydrocephalus OMIM:269860
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:96121
Dextrocardia
Hydrocephalus ORPHA:1666
Holoprosencephaly
Dandy-Walker malformation, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2162
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Mohr Syndrome
Hydrocephalus OMIM:252100
Raine Syndrome
Hydrocephalus OMIM:259775
Alexander Disease
Aqueductal stenosis, Hydrocephalus ORPHA:58
Hypoplasminogenemia
Dandy-Walker malformation, Hydrocephalus ORPHA:722
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus OMIM:605627
Medulloblastoma
Hydrocephalus ORPHA:616
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:257300
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
H Syndrome
Hydrocephalus ORPHA:168569
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Coccidioidomycosis
Increased CSF protein, Hypoglycorrhachia, CSF pleocytosis, CSF lymphocytic pleiocytosis, Hydrocep... ORPHA:228123
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus ORPHA:77301
Monosomy 18Q
Hydrocephalus ORPHA:1600
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Jacobsen Syndrome
Holoprosencephaly, Hydrocephalus OMIM:147791
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus OMIM:619512
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1272
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Hurler Syndrome
Hydrocephalus ORPHA:93473
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Mucopolysaccharidosis Type 3
Ventriculomegaly, Hydrocephalus ORPHA:581
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
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Dubowitz Syndrome
Spina bifida occulta, Hydrocephalus ORPHA:235
Marshall-Smith Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602535
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:2166
Meckel Syndrome
Lobar holoprosencephaly, Anencephaly, Dandy-Walker malformation, Hydrocephalus, Encephalocele ORPHA:564
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus OMIM:300373
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Stromme Syndrome
Hydrocephalus OMIM:243605
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:457284
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Meckel Syndrome, Type 1
Dandy-Walker malformation, Anencephaly, Occipital encephalocele, Hydrocephalus OMIM:249000
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:2462
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus ORPHA:264450
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Craniopharyngioma
Hydrocephalus ORPHA:54595
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2322
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Spina bifida, Hydrocephalus, Meningocele, Arrhinencephaly ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
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
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Limb Body Wall Complex
Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida occulta, Encephalocele ORPHA:2369
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Fanconi Anemia
Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:84
Smith-Lemli-Opitz Syndrome
Dandy-Walker malformation, Holoprosencephaly, Hydrocephalus OMIM:270400
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:401973
Cryptococcosis
Hydrocephalus ORPHA:1546
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus OMIM:114290
Neurofibromatosis Type 2
Myelopathy, Hydrocephalus ORPHA:637
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly, Hydrocephalus OMIM:619475
Osteogenesis Imperfecta
Noncommunicating hydrocephalus, Ventriculomegaly, 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
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Meningioma
Hydrocephalus ORPHA:2495
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2072
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Cockayne Syndrome A
Normal pressure hydrocephalus, Ventriculomegaly OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Microphthalmia With Limb Anomalies
Hydrocephalus, Arrhinencephaly ORPHA:1106
Wiedemann-Rautenstrauch Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:264090
Baller-Gerold Syndrome