banner
Genes Phenotypes Help, News, Blog

Gene: Ptpn20 MGI:1196295

Log in to follow

Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 20
Synonyms:
typ

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
abnormal lens morphology Ptpn20tm1b(KOMP)Wtsi HOM Early adult 1.98×10-06
limb grasping Ptpn20tm1b(KOMP)Wtsi HOM Early adult 3.33×10-08
increased circulating chloride level Ptpn20tm1b(KOMP)Wtsi HOM Early adult 3.65×10-05

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)
Kidney  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  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)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Mammary gland 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus 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)
Trachea 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Sleep Wake

Wake state (bmp file)

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

4 Images

View images
Eye Morphology

Images Ophthalmoscopy

4 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Ptpn20 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 Ptpn20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Kleeblattschaedel
Hydrocephalus OMIM:148800
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Cataract 47
Cataract, Microcornea OMIM:612018
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Fried Syndrome
Hydrocephalus ORPHA:85335
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mild fetal ventriculomegaly, Communicating hydrocephalus OMIM:619841
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:602522
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:241200
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Coach Syndrome 2
Hydrocephalus OMIM:619111
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Hemangioblastoma
Hydrocephalus ORPHA:252054
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Arachnoiditis
Hydrocephalus ORPHA:137817
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Temple Syndrome
Hydrocephalus ORPHA:254516
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele ORPHA:370959
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Temple Syndrome
Hydrocephalus OMIM:616222
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Muenke Syndrome
Hydrocephalus ORPHA:53271
Bresek Syndrome
Hydrocephalus ORPHA:85284
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele, Meningocele OMIM:614424
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle ORPHA:500055
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Trisomy 17P
Hydrocephalus ORPHA:261290
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Crouzon Syndrome
Hydrocephalus OMIM:123500
Achondroplasia
Hydrocephalus ORPHA:15
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Ventriculomegaly, Occipital meningocele, Anencephaly OMIM:616546
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele OMIM:130720
Whipple Disease
Hydrocephalus ORPHA:3452
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Mirage Syndrome
Hydrocephalus OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu... OMIM:236670
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Dextrocardia
Hydrocephalus ORPHA:1666
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Hurler Syndrome
Hydrocephalus OMIM:607014
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation OMIM:620371
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Medulloblastoma
Hydrocephalus ORPHA:616
Achondroplasia
Hydrocephalus OMIM:100800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Anencephaly OMIM:269860
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Monosomy 18Q
Hydrocephalus ORPHA:1600
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Otopalatodigital Syndrome Type 2
Hydrocephalus, Encephalocele, Myelomeningocele ORPHA:90652
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Holoprosencephaly
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Spinal dysraphism ORPHA:2162
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
H Syndrome
Hydrocephalus ORPHA:168569
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Coccidioidomycosis
Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis, Increased CSF protein concentration... ORPHA:228123
Stromme Syndrome
Hydrocephalus OMIM:243605
Hurler Syndrome
Hydrocephalus ORPHA:93473
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Neurooculorenal Syndrome
Hydrocephalus, Ventriculomegaly, Aqueductal stenosis OMIM:620305
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Raine Syndrome
Hydrocephalus OMIM:259775
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602535
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly OMIM:309801
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Gorlin Syndrome
Hydrocephalus ORPHA:377
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Lobar holoprosencephaly ORPHA:564
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ve... OMIM:249000
Craniopharyngioma
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2369
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Cryptococcosis
Hydrocephalus ORPHA:1546
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho... OMIM:610829
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:619475
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Fanconi Anemia
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:84
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Myelomeningocele OMIM:306955
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Dandy-Walker malformation, Colpocephaly, Holoprosencephaly OMIM:270400
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida ORPHA:567
Osteogenesis Imperfecta
Hydrocephalus, Ventriculomegaly, Noncommunicating hydrocephalus ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2072
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Meningioma
Hydrocephalus ORPHA:2495
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hydrocephalus, Colpocephaly, Lateral ventricle dilatation OMIM:210710
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Fraser Syndrome 1
Hydrocephalus, Encephalocele, Myelomeningocele OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly OMIM:194190
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Acrofacial Dysostosis, Cincinnati Type
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Aqueductal stenosis OMIM:616462
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:264090
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Focal Dermal Hypoplasia
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Yunis-Varon Syndrome
Hydrocephalus ORPHA:3472
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation OMIM:619534
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Spina bifida OMIM:304120
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus OMIM:312870
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele OMIM:268300
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ptpn20

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptpn20.

No publications found that use IMPC mice or data for Ptpn20.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptpn20tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ptpn20tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter