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Gene: Zdhhc3 MGI:1926134

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Gene Summary

Name:
zinc finger, DHHC domain containing 3
Synonyms:
Zfp373,  GODZ,  1810006O10Rik,  1110020O22Rik,  2210017C02Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
hyperactivity Zdhhc3tm1.1(KOMP)Vlcg HOM   Early adult 1.62×10-08
hydrocephaly Zdhhc3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal brain morphology Zdhhc3tm1.1(KOMP)Vlcg 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
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  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
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye 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)
Harderian gland 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
Jejunum N/A heterozygote 0.0% (0 of 2)
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
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis 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
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Adult LacZ

LacZ Images Section

9 Images

View images

Human diseases caused by Zdhhc3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zdhhc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Alexander Disease
Ataxia, Hydrocephalus, Increased CSF protein OMIM:203450
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Pineocytoma
Episodic ataxia, Hydrocephalus, Difficulty walking, Increased CSF protein ORPHA:251912
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Hydrocephalus, Ventriculomegaly OMIM:618709
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Ventriculomegaly OMIM:613402
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Atypical Teratoid Rhabdoid Tumor
Ataxia, Hydrocephalus ORPHA:99966
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus, Lethargy ORPHA:26
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Difficulty walking, Increased CSF protein ORPHA:251915
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Masa Syndrome
Shuffling gait, Hydrocephalus, Ventriculomegaly OMIM:303350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:261102
1Q21.1 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:250994
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Juvenile Huntington Disease
Dystonia, Bradykinesia, Ventriculomegaly, Hyperactivity, Progressive cerebellar ataxia, Ataxia, B... ORPHA:248111
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Fried Syndrome
Gait disturbance, Hydrocephalus ORPHA:85335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... OMIM:609637
Central Neurocytoma
Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Lethargy ORPHA:73256
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613154
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Gómez-López-Hernández Syndrome
Ataxia, Hydrocephalus ORPHA:1532
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Akinesia OMIM:225790
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Pettigrew Syndrome
Dandy-Walker malformation, Gait ataxia, Hydrocephalus, Ventriculomegaly OMIM:304340
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Aicardi-Goutieres Syndrome 4
Dystonia, CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
L1 Syndrome
Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus OMIM:619302
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:324416
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Morm Syndrome
Hyperactivity ORPHA:75858
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220220
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Mend Syndrome
Dandy-Walker malformation, Hyperactivity, Hydrocephalus OMIM:300960
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220219
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Hydrocephalus OMIM:300558
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Muscle-Eye-Brain Disease
Meningocele, Gait disturbance, Holoprosencephaly, Hydrocephalus ORPHA:588
Achondroplasia
Hydrocephalus OMIM:100800
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Ventriculomegaly ORPHA:457260
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Oxoglutaric Aciduria
Ataxia, Hydrocephalus ORPHA:31
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Congenital Muscular Dystrophy, Fukuyama Type
Gait disturbance, Hydrocephalus, Ventriculomegaly ORPHA:272
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus ORPHA:2181
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Elevated CSF gamma-aminobutyric acid concentration, Elevated CSF 4-hydroxy... OMIM:271980
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Rasmussen Subacute Encephalitis
Hemidystonia, Abnormality of the cerebrospinal fluid, Ventriculomegaly, Hyperactivity, Inability ... ORPHA:1929
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Unsteady gait, Hydrocephalus OMIM:617542
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Ventriculomegaly, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Mental Retardation, Autosomal Dominant 36
Inability to walk, Hydrocephalus, Ventriculomegaly OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613153
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Attention deficit hyperactivity disorder, Hydrocephalus, Ventriculomegaly OMIM:609757
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Ventriculomegaly OMIM:618314
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Lissencephaly 5
Hydrocephalus OMIM:615191
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Central Precocious Puberty
Hydrocephalus ORPHA:759
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Temple Syndrome
Hydrocephalus OMIM:616222
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Mental Retardation, Buenos Aires Type
Spastic gait, Hydrocephalus OMIM:249630
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Mental Retardation, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:615287
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Ventriculomegaly OMIM:300958
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Nephronophthisis 18
Hydrocephalus OMIM:615862
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Gand Syndrome
Hyperactivity OMIM:615074
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Joubert Syndrome 14
Dandy-Walker malformation, Ataxia, Hydrocephalus OMIM:614424
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Ventriculomegaly ORPHA:93274
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Ventriculomegaly ORPHA:485350
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hydrocephalus, Ventriculomegaly OMIM:618476
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:8
Coach Syndrome 2
Hydrocephalus OMIM:619111
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Temple Syndrome
Hydrocephalus ORPHA:254516
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Ventriculomegaly, Ataxia, Hydrocephalus, Difficulty walking, Aqued... ORPHA:1136
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
Hydrocephalus, Ventriculomegaly OMIM:109120
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Attention deficit hyperactivity disorder, Noncommunicating hydrocephalus OMIM:619320
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism ORPHA:1908
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:459061
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly OMIM:611134
Hemangioblastoma
Hydrocephalus ORPHA:252054
Arachnoiditis
Hydrocephalus ORPHA:137817
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Progressive cerebellar ataxia, Ata... ORPHA:616
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Multiple Sulfatase Deficiency
Ataxia, Hydrocephalus, Increased CSF protein, Ventriculomegaly OMIM:272200
Methylcobalamin Deficiency Type Cble
Lethargy, Hydrocephalus, Ventriculomegaly ORPHA:2169
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hydrocephalus OMIM:607361
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Gait disturbance, Ventriculomegaly, Hydrocephalus, Attention deficit hyp... ORPHA:500055
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly, Ataxia,... ORPHA:25
Crouzon Disease
Hydrocephalus ORPHA:207
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Ventriculomegaly, Ataxia, Hydrocephalus, Lethargy ORPHA:395
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Griscelli Syndrome
Ataxia, Hydrocephalus ORPHA:381
Rhombencephalosynapsis
Ataxia, Hydrocephalus, Ventriculomegaly ORPHA:59315
Myopathy With Extrapyramidal Signs
Dystonia, Hyperactivity, Ataxia, Difficulty walking, Increased CSF protein OMIM:615673
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:447788
Fragile X Syndrome
Hyperactivity OMIM:300624
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hydrocephalus, Ventriculomegaly ORPHA:370959
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Communicating hydrocephalus, Ventriculomegaly OMIM:615219
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
Gorlin Syndrome
Hydrocephalus ORPHA:377
Joubert Syndrome With Renal Defect
Ataxia, Gait disturbance, Hydrocephalus ORPHA:220497
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Bresek Syndrome
Hydrocephalus ORPHA:85284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Joubert Syndrome
Ataxia, Gait disturbance, Hydrocephalus ORPHA:475
Histidinemia
Hyperactivity ORPHA:2157
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Tenorio Syndrome
Gait disturbance, Hydrocephalus, Ventriculomegaly OMIM:616260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:1647
Lhermitte-Duclos Disease
Ataxia, Hydrocephalus ORPHA:65285
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Waddling gait, Hydranencephaly ORPHA:2839
Congenital Sialidosis Type 2
Dysmetria, Ataxia, Hydrocephalus ORPHA:93400
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
3C Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:7
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Hydrocephalus ORPHA:2720
Joubert Syndrome With Ocular Defect
Ataxia, Gait disturbance, Hydrocephalus ORPHA:220493
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Hydrocephalus, Broad-based gait, Ventriculomegaly ORPHA:93932
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate ORPHA:90065
Joubert Syndrome With Oculorenal Defect
Ataxia, Hydrocephalus ORPHA:2318
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Emanuel Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:96170
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Gait disturbance, Hydrocephalus, Ventriculomegaly ORPHA:1812
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Ventriculomegaly ORPHA:457485
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hydrocephalus OMIM:612938
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Ventriculomegaly OMIM:300486
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Difficulty walking, Lipomy... ORPHA:268810
Arachnoid Cyst
Gait disturbance, Holoprosencephaly, Inability to walk, Hydrocephalus, Enlarged fossa interpedunc... ORPHA:2356
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Normal pressure hydrocephalus, Torticollis, Spastic ataxia, Inability to walk, Dilation... ORPHA:300570
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Hyperphosphatasia With Mental Retardation Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
Walker-Warburg Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:899
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Hydrocephalus OMIM:217090
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Whipple Disease
Ataxia, Hydrocephalus ORPHA:3452
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Attention deficit hyperactivity disorder... OMIM:619575
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Hydrocephalus, Ventriculomegaly OMIM:612651
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Joubert Syndrome 2
Ataxia, Hydrocephalus, Enlarged fossa interpeduncularis OMIM:608091
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Dural Sinus Malformation
Ataxia, Hydrocephalus ORPHA:97339
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydroc... ORPHA:63259
Sturge-Weber Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:3205
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
7Q11.23 Microduplication Syndrome
Dysmetria, Ventriculomegaly, Hyperactivity, Hydrocephalus, Unsteady gait ORPHA:96121
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Monosomy 9Q22.3
Hyperactivity, Hydrocephalus, Ventriculomegaly ORPHA:77301
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Joubert Syndrome With Hepatic Defect
Ataxia, Gait disturbance, Hydrocephalus ORPHA:1454
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Achondroplasia
Hydrocephalus ORPHA:15
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Hydrocephalus, Ventriculomegaly ORPHA:457284
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Hydrocephalus ORPHA:220295
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Lethargy OMIM:277400
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Trisomy 17P
Hydrocephalus ORPHA:261290
Alexander Disease
Ataxia, Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:58
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Marfanoid-Progeroid-Lipodystrophy Syndrome
Asymmetric ventricles, Hydrocephalus OMIM:616914
Hyperlysinemia
Dysmetria, Decreased CSF arginine concentration, Increased CSF lysine concentration, Hyperactivit... ORPHA:2203
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Hydrocephalus OMIM:613001
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Ventriculomegaly, Hyperactivity, Ataxia, Hydrocephalus ORPHA:581
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus ORPHA:1865
Distal Tetrasomy 15Q
Dandy-Walker malformation, Hydrocephalus ORPHA:314588
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:614643
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Ataxia ORPHA:168577
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
1Q21.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:250989
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Opitz-Kaveggia Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus OMIM:305450
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Hydrocephalus, Aqueductal stenosis OMIM:619512
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia OMIM:616084
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Hydrocephalus, Ventriculomegaly OMIM:617011
Hurler Syndrome
Hydrocephalus OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly OMIM:613150
Holoprosencephaly
Dandy-Walker malformation, Dystonia, Holoprosencephaly, Hydrocephalus, Spinal dysraphism ORPHA:2162
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly OMIM:610828
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Dubowitz Syndrome
Attention deficit hyperactivity disorder, Spina bifida occulta, Hydrocephalus ORPHA:235
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Mend Syndrome
Dandy-Walker malformation, Hyperactivity, Hydrocephalus ORPHA:401973
Mucopolysaccharidosis, Type Vi
Hydrocephalus OMIM:253200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hydrocephalus, Lethargy ORPHA:79282
Mirage Syndrome
Hydrocephalus OMIM:617053
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
15Q Overgrowth Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:314585
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hydrocephalus ORPHA:505248
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Hydrocephalus OMIM:227646
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Raine Syndrome
Hydrocephalus OMIM:259775
Dextrocardia
Hydrocephalus ORPHA:1666
Mohr Syndrome
Hydrocephalus OMIM:252100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Torticollis, Falls, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomeg... OMIM:619475
Semilobar Holoprosencephaly
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... ORPHA:93924
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly OMIM:269860
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:257300
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele ORPHA:90652
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
H Syndrome
Hydrocephalus ORPHA:168569
Coccidioidomycosis
CSF lymphocytic pleiocytosis, Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, Increased CSF pr... ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:236670
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Marden-Walker Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:2461
Hypoplasminogenemia
Dandy-Walker malformation, Hydrocephalus ORPHA:722
Shprintzen-Goldberg Craniosynostosis Syndrome