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Gene: Wnt10b MGI:108061

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Gene Summary

Name:
wingless-type MMTV integration site family, member 10B
Synonyms:
Wnt12

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
decreased bone mineral density Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 6.16×10-08
abnormal cecum morphology Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral content Wnt10btm1e.1(KOMP)Wtsi HOM   Early adult 3.76×10-06
abnormal brain morphology Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00
hydrocephaly Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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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
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 0.0% (0 of 2)
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)
Epididymis N/A heterozygote 50% (1 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
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney 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 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 Not available
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)
Prostate gland N/A heterozygote 50% (1 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 50% (1 of 2)
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)
Testis N/A heterozygote 50% (1 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)
Vas deferens N/A heterozygote 50% (1 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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Skull Lateral Orientation

6 Images

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Adult LacZ

LacZ Images Section

7 Images

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X-ray

XRay Images Hind Leg and Hip

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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Human diseases caused by Wnt10b mutations

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

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

The table below shows human diseases associated to Wnt10b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Split Hand-Split Foot Malformation
ORPHA:2440
Split-Hand/Foot Malformation 6
OMIM:225300
Tooth Agenesis, Selective, 8
OMIM:617073
Oligodontia
ORPHA:99798

The table below shows human diseases predicted to be associated to Wnt10b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus ORPHA:99966
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus, Joint hypermobility OMIM:236660
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Nasu-Hakola Disease
Ventriculomegaly, Limitation of joint mobility, Functional abnormality of the gastrointestinal tr... ORPHA:2770
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:250994
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Ventriculomegaly, Hydrocephalus, High palate OMIM:304100
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Acalvaria
Holoprosencephaly, Cleft palate, Hydrocephalus, Spina bifida ORPHA:945
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Hydrocephalus, Communicating hydr... OMIM:112240
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal encephalocele ORPHA:1528
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vacterl Association With Hydrocephalus
Radial club hand, Aqueductal stenosis, Anal atresia, Hydrocephalus OMIM:276950
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus OMIM:312190
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Cleft palate OMIM:614120
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Joint stiffness, Holoprosencephaly, Hydrocephalus ORPHA:2182
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Hydrocephalus, Decr... OMIM:259710
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Celiac disease, Hydrocephalus OMIM:248000
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Infantile Sialic Acid Storage Disease
Osteopenia, High palate, Hydrocephalus OMIM:269920
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Hydrocephalus, Arthritis, Os... ORPHA:53
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Hydrocephalus, Rectal atresia, Anal atresia, Rectovaginal fistula ORPHA:3016
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Hydrocephalus ORPHA:1516
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Unilambdoid synostosis OMIM:618577
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Macroglossia, Epiphyseal stippling, Hydrocephalus ORPHA:1914
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus ORPHA:380
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Hydrocephalus, Joint hypermobility ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Flexion contracture, Hydrocephalus OMIM:613155
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Aase-Smith Syndrome I
Flexion contracture, Cleft palate, Hydrocephalus, Dandy-Walker malformation OMIM:147800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation ORPHA:163961
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Flexion contracture, Hydrocephalus, Camptodactyly of finger ORPHA:272
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Joint hypermobility OMIM:602501
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Triploidy
Intestinal malrotation, Decreased skull ossification, Hydrocephalus, Macroglossia, Meningocele, H... ORPHA:3376
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Hydrocephalus, Calvarial osteo... OMIM:259700
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hydrocephalus ORPHA:2183
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Ventriculomegaly, Camptodactyly of toe, Hydrocephalus, Craniosynos... OMIM:175700
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Carpal synostosis, Hydrocephalus, Tarsal synostosis ORPHA:53271
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Flexion contracture, Delayed pubic bone ossification, Delayed vertebral ossification OMIM:613330
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Hydrocephalus, High palate, Re... OMIM:616294
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Communicating hydrocephalus ORPHA:1237
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Congenital contracture, Ileus, Colpocephaly, Hydrocephalus... OMIM:620156
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Limitation of joint mobility, Encephalocele, Joint hypermobility, Hydrocephalus... ORPHA:93274
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus, Radial dysplasia OMIM:617244
Alexander Disease Type I
Dysphagia, Hydrocephalus ORPHA:363717
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception, Hydrocephalus, Red... OMIM:619377
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Hydrocephalus, Midgut malrotation, Osteoporosis, Craniosynostosi... ORPHA:2409
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Intestinal malrotation, Decreased calvarial ossification, Choroid plexus cyst, ... OMIM:617866
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Joint contracture, Cleft palate, Dandy-Walker m... OMIM:225790
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Temple Syndrome
Bifid uvula, Joint hypermobility, Hydrocephalus, High palate, Flexion contracture, Cleft palate OMIM:616222
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Flexion contracture, Hydrocephalus ORPHA:99947
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Radioulnar synostosis, Craniosynostosis, Hydrocephalus ORPHA:171839
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Pyloric stenosis OMIM:218350
Crouzon Syndrome
Narrow palate, Hydrocephalus, Multiple suture craniosynostosis ORPHA:207
Myopathy, Centronuclear, X-Linked
Hydrocephalus, High palate, Flexion contracture, Dandy-Walker malformation, Pyloric stenosis OMIM:310400
Tenorio Syndrome
Osteopenia, Ventriculomegaly, Gastroesophageal reflux, Joint hypermobility, Hydrocephalus, Macrog... OMIM:616260
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Craniofacial osteosclerosis, Increased skull ossification, Osteopetrosis, Hydro... OMIM:618476
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Dysphagia OMIM:207950
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus, Pyloric stenosis OMIM:616355
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Rhombencephalosynapsis
Ventriculomegaly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Hydroceph... ORPHA:59315
Fg Syndrome Type 1
Ventriculomegaly, Gastroesophageal reflux, Abnormal large intestine morphology, Limited elbow ext... ORPHA:93932
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Decreased skull ossification OMIM:300863
Intellectual Developmental Disorder, X-Linked 30
High palate, Hydrocephalus OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Pfeiffer Syndrome Type 2
Limitation of joint mobility, Tracheomalacia, Intestinal malrotation, Hydrocephalus, High palate,... ORPHA:93259
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Meckel Syndrome, Type 3
Cleft palate, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Thanatophoric Dysplasia
Ventriculomegaly, Joint stiffness, Hydrocephalus, Joint hypermobility ORPHA:2655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Gastroesophageal reflux, Joint hypermobility, Hydrocephalus, High palate OMIM:612940
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Calvarial osteosclerosis, Aqueductal stenosis, Flexion contractu... OMIM:304340
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1834
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Hydrocephalus, Cleft palate OMIM:241800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate ORPHA:398189
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Encephalocele, Hydrocephalus, Campto... OMIM:224400
Meckel Syndrome, Type 4
Encephalocele, Cleft palate, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Spina bifida occulta, Ectopic anus, Hydrocephal... OMIM:613686
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Emanuel Syndrome
Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Anal atresia, Hydrocephalus, J... OMIM:609029
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Delayed ossification of carpal bones, Abnormal rectum morphology, Agangli... OMIM:239300
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Cle... ORPHA:1908
Temple Syndrome
Bifid uvula, Hydrocephalus ORPHA:254516
Gracile Bone Dysplasia
Ankyloglossia, Hydrocephalus, Decreased skull ossification OMIM:602361
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus, Joint hypermobility OMIM:616362
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Gastroesophageal reflux, Colpocephaly, Distal arthrogryposis, Hydrocephalus, Hi... OMIM:619833
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Edinburgh Malformation Syndrome
Joint stiffness, Hydrocephalus ORPHA:1895
Plasminogen Deficiency, Type I
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Cleft palate ORPHA:85284
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Tetrasomy 15Q26
Camptodactyly, High palate, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Holoprosencephaly, Esophageal atresia, Hydrocephalus ORPHA:77298
Desmosterolosis
Bifid uvula, Ventriculomegaly, Intestinal malrotation, Submucous cleft hard palate, Osteopetrosis... ORPHA:35107
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Reduced bone mineral density, Hydrocephalus ORPHA:2720
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis, Hydrocephalus, ... OMIM:123500
Methylcobalamin Deficiency Type Cble
Osteoporosis, Ventriculomegaly, Hydrocephalus ORPHA:2169
3C Syndrome
High, narrow palate, Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Ectopic a... ORPHA:7
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus, High palate OMIM:609757
Ritscher-Schinzel Syndrome 1
Anal atresia, Cleft palate, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Ventricul... OMIM:101200
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Emanuel Syndrome
Bifid uvula, Ventriculomegaly, Gastroesophageal reflux, Multiple joint contractures, Ectopic anus... ORPHA:96170
1Q44 Microdeletion Syndrome
Intestinal malrotation, Ventriculomegaly, Hydrocephalus, High palate ORPHA:238769
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Cleft palate ORPHA:459061
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Pfeiffer Syndrome
Coronal craniosynostosis, Humeroradial synostosis, Elbow ankylosis, Hydrocephalus, High palate OMIM:101600
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Hydrocephalus, Macroglossia ORPHA:370959
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Coach Syndrome 2
Hydrocephalus OMIM:619111
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Inflammation of the large intestine, Hydrocephalus, Esophageal varix OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Anencephaly, Hydrocephalus, Spina bifida, Ana... ORPHA:63259
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Duodenal atresia OMIM:300514
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Flexion c... OMIM:613154
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus OMIM:314390
Chromosome 6Pter-P24 Deletion Syndrome
Joint hypermobility, Anal atresia, Hydrocephalus, High palate, Dandy-Walker malformation OMIM:612582
Griscelli Syndrome
Hydrocephalus, Encephalocele, Pyloric stenosis ORPHA:381
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Knee flexion contrac... OMIM:618162
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Hydrocephalus OMIM:614886
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Lateral ventricle dilatation, Femur fracture, Osteopetrosis,... OMIM:612301
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus, Knee flexion contracture OMIM:603387
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hydrocephalus ORPHA:2180
Desmosterolosis
Ventriculomegaly, Joint contracture of the hand, Generalized osteosclerosis, Hydrocephalus, Arthr... OMIM:602398
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Hydrocephalus, Abnormally ossified vertebrae ORPHA:3301
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Proteus-Like Syndrome
Communicating hydrocephalus, Hyperostosis, Hydrocephalus ORPHA:2969
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Spina bifida occulta, H... ORPHA:2437
Hydrolethalus
Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Anencephaly, Cleft palate ORPHA:2189
Trisomy 1Q
Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Anal atresia, Cleft palate ORPHA:261344
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia, Hydrocephalus ORPHA:91348
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Camptodactyly, High palate, Arthrogryposis multiplex congenita, ... OMIM:617822
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Humeroradial synostosis, Hydrocephalus, Ca... OMIM:207410
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, High palate, Hydrocephalus, Joint hypermobility OMIM:618590
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Joint hypermobility ORPHA:60040
Hemangioblastoma
Hydrocephalus ORPHA:252054
Congenital Myopathy 22A, Classic
High palate, Hip contracture, Achilles tendon contracture, Normal pressure hydrocephalus, Osteopo... OMIM:620351
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Joint contracture of the hand, Gastroesophageal reflux, Craniofacial osteosclerosis,... OMIM:300373
Lateral Meningocele Syndrome
Sclerosis of skull base, Joint hypermobility, Hydrocephalus, High palate, Vertebral fusion, Menin... OMIM:130720
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:612938
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Ventriculomegaly, Gastroesophageal reflux, Subperiosteal bone formatio... OMIM:618188
Mirage Syndrome
Gastroesophageal reflux, Radial club hand, Achalasia, Hydrocephalus, Esophageal stricture OMIM:617053
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Elbow flexion contracture, Joint hypermobility, Radioulnar ... OMIM:245600
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Myelomeningocele, Encepha... ORPHA:90652
Distal Triplication 15Q
Hydrocephalus, High palate, Camptodactyly, Craniosynostosis, Flexion contracture, Dandy-Walker ma... ORPHA:314588
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Apert Syndrome
Bifid uvula, Ventriculomegaly, Cervical C5/C6 vertebrae fusion, Ectopic anus, Esophageal atresia,... ORPHA:87
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteriorly placed anus, Hydrocephalus, Craniosynostosis, Narrow palate, Cleft palate ORPHA:1555
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Joint hypermobility, Bicoronal synostosis, Hydrocephalus, Camptodactyly of finger OMIM:619951
Peho Syndrome
Ventriculomegaly, Limitation of joint mobility, Hydrocephalus, Flexion contracture, Arthrogryposi... ORPHA:2836
Trisomy 17P
Hydrocephalus, High palate, Macroglossia, Flexion contracture, Cleft palate ORPHA:261290
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Joint hypermobility, Achalasia, Hydrocephalus, Flexi... OMIM:616007
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Communicating hydrocephalus ORPHA:1064
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Submucous cleft hard p... OMIM:612863
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Limitation of joint mobility, Cranial hyperostosis, Facial hype... ORPHA:2658
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Hydrocephalus, Encephalocele, Cleft palate ORPHA:220497
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint contracture of the hand, Gastroesophageal reflux, Narrow palate, Joint hypermob... OMIM:182212
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Cleft palate ORPHA:1926
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Ventriculomegaly, Narrow palate, Anteriorly placed anus, Limited elbow extension, Hy... OMIM:123790
Arachnoiditis
Hydrocephalus ORPHA:137817
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Cranial hyperostosis, Osteopetrosis, Hydrocephalus, Decreased osteoclast count,... OMIM:259720
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Hydrocephalus, Macroglossia, Tracheobronchomalacia, Flexion contra... OMIM:309900
Opitz-Kaveggia Syndrome
Narrow palate, Joint contracture of the hand, Anal stenosis, Anteriorly placed anus, Intestinal m... OMIM:305450
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Hydrocephalus, Craniosynostosis, High palate, Lateral ventricular asymmetry,... OMIM:616914
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningocele, Cleft palate OMIM:614424
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Gastroesophageal reflux, Hydrocephalus, Flexion contra... ORPHA:500055
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Camptodactyly of finger, Hydrocephalus, Spina bifida, Cleft palate ORPHA:2839
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Hydrocephalus, Encephalocele ORPHA:2318
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Hydrocephalus OMIM:615249
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Encephalocele, Hydrocephalus, Flexion contracture, Cleft palate ORPHA:1865
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Joint stiffness, Hydrocephalus ORPHA:1860
Achondroplasia
Hip joint hypermobility, Limited elbow extension, Hydrocephalus, Knee joint hypermobility ORPHA:15
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Pathologic fracture, Intestinal malrotation, Joint hypermobility... OMIM:102500
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Hydrocephalus, Encephalocele, Cleft palate ORPHA:220493
Joubert Syndrome
Aganglionic megacolon, Hydrocephalus, Encephalocele ORPHA:475
Walker-Warburg Syndrome
Bifid uvula, Ventriculomegaly, Submucous cleft hard palate, Hydrocephalus, Dandy-Walker malformat... ORPHA:899
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hydrocephalus OMIM:601499
Vacterl With Hydrocephalus
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spina bifida, Aqueductal stenosis, ... ORPHA:3412
Primary Ciliary Dyskinesia
Intestinal malrotation, Ventriculomegaly, Hydrocephalus ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Dextrocardia
Intestinal malrotation, Meckel diverticulum, Hydrocephalus ORPHA:1666
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Tracheoesophageal fistula, Communicating hydroceph... ORPHA:1780
Stromme Syndrome
Intestinal malrotation, Jejunal atresia, Hydrocephalus, Duodenal atresia, Cleft palate OMIM:243605
Sturge-Weber Syndrome
Dysphagia, Hyperostosis, Hydrocephalus ORPHA:3205
Raine Syndrome
Protruding tongue, Hydrocephalus, Subperiosteal bone formation, Increased bone mineral density, H... OMIM:259775
Hurler Syndrome
Cranial hyperostosis, Joint stiffness, Hydrocephalus, Calvarial hyperostosis, Macroglossia, Flexi... OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Congenital contracture, Encephalocele, Hydrocephalus, Macroglossia, Cleft palate OMIM:613150
Shprintzen-Goldberg Syndrome
High, narrow palate, Osteopenia, Ventriculomegaly, Gastroesophageal reflux, Camptodactyly of fing... ORPHA:2462
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
15Q Overgrowth Syndrome
High, narrow palate, Bifid uvula, Contracture of the proximal interphalangeal joint of the 2nd fi... ORPHA:314585
Adams-Oliver Syndrome
Hydrocephalus, Gastrointestinal hemorrhage, Encephalocele, Esophageal varix ORPHA:974
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract OMIM:600145
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Elbow flexion contracture, Knee flexion contracture, Joint hypermobility, Sp... OMIM:613776
Cerebrooculonasal Syndrome
Narrow palate, Ventriculomegaly, Encephalocele, Hydrocephalus, Craniosynostosis, High palate, Cle... OMIM:605627
Hajdu-Cheney Syndrome
Osteopenia, Coarse metaphyseal trabecularization, Osteolysis, Intestinal malrotation, Joint hyper... ORPHA:955
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tracheomalacia, Multiple joint contractures, Joint hypermobility, Radioulnar synostos... ORPHA:536467
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hydrocephalus, High palate OMIM:614969
Alexander Disease
Osteopenia, Hydrocephalus, Aqueductal stenosis, High palate, Dysphagia ORPHA:58
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Congenital Syphilis
Periostitis, Synovitis, Hydrocephalus, High palate, CSF pleocytosis ORPHA:499009
Pseudotrisomy 13 Syndrome
Median cleft palate, Encephalocele, Hydrocephalus, Anal atresia, Holoprosencephaly OMIM:264480
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Cardiofaciocutaneous Syndrome 1
Osteopenia, Gastroesophageal reflux, Submucous cleft hard palate, Hydrocephalus, High palate, Hyp... OMIM:115150
Multiple Sulfatase Deficiency
Joint stiffness, Hydrocephalus ORPHA:585
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Whipple Disease
Gastrointestinal hemorrhage, Hydrocephalus, Arthritis ORPHA:3452
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Hydrocephalus, Spina bifida, Irregular ossification of hand bones, ... OMIM:109400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Epiphyseal stippling, Hydrocephalus, Calvarial hyperostosis OMIM:101800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus, Cleft palate ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Congenital contracture, Occipital encephalocele, Hydrocephalus, Anal atresia, C... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Flexion contracture, Holoprosencephaly, Encephalocele OMIM:253800
Cousin Syndrome
Joint contracture of the hand, Hydranencephaly, Microglossia, Humeroradial synostosis, Wrist flex... OMIM:260660
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Cleft palate, Anencephaly OMIM:612284
Dubowitz Syndrome
Anal stenosis, Submucous cleft hard palate, Joint hypermobility, Hydrocephalus, Spina bifida occu... ORPHA:235
Cole-Carpenter Syndrome
Communicating hydrocephalus, Recurrent fractures, Joint hypermobility ORPHA:2050
Knobloch Syndrome
Pyloric stenosis, Occipital encephalocele, Hydrocephalus, Joint hypermobility ORPHA:1571
Holoprosencephaly-Postaxial Polydactyly Syndrome
Intestinal malrotation, Encephalocele, Hydrocephalus, Anal atresia, Holoprosencephaly, Cleft palate ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 1
Colonic atresia, Anteriorly placed anus, Colpocephaly, Hydrocephalus, Anal atresia, Cleft palate OMIM:309801
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Ventriculomegaly, Hydrocephalus OMIM:613603
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Ventriculomegaly, Joint stiffness, Increased susceptibility to fractur... ORPHA:581
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Dilated third ventricle, Lateral ventricle dilatation, Joint h... OMIM:619575
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Duodenal atresia, Cleft palate OMIM:257300
Mucopolysaccharidosis, Type Vii
Limitation of joint mobility, Joint stiffness, Hydrocephalus, Macroglossia, Flexion contracture OMIM:253220
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Tetrasomy 5P
High palate, Hydrocephalus ORPHA:3309
H Syndrome
Camptodactyly, Hydrocephalus, Recurrent fractures, Osteolysis ORPHA:168569
Orofaciodigital Syndrome Ii
Hydrocephalus, Bifid tongue, High palate, Tongue nodules, Cleft palate, Lobulated tongue OMIM:252100
Gaucher Disease
Osteopenia, Ventriculomegaly, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Hy... ORPHA:355
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Icf Syndrome
Macroglossia, Communicating hydrocephalus, Protruding tongue ORPHA:2268
Genitopalatocardiac Syndrome
Hydrocephalus, Cleft palate ORPHA:2075
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Gastroesophageal reflux, Limitation of joint mobility, Anteriorly placed anu... ORPHA:95699
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Congenital Sialidosis Type 2
Protruding tongue, Hydrocephalus ORPHA:93400
Marshall-Smith Syndrome
Ventriculomegaly, Anteriorly placed anus, Glossoptosis, Hydrocephalus, Large sternal ossification... OMIM:602535
Osteogenesis Imperfecta
Osteopenia, Ventriculomegaly, Fractures of the long bones, Abnormal cortical bone morphology, Inc... ORPHA:666
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Hydrocephalus, Holoprosencephal... OMIM:269860
Joubert Syndrome 2
Hydrocephalus, High palate, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Hypoplasminogenemia
Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Alpha-Mannosidosis, Infantile Form
Osteopenia, Macroglossia, Cranial hyperostosis, Joint stiffness, Recurrent gastroenteritis, Joint... ORPHA:309282
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Hydrocephalus OMIM:616482
Achondroplasia
Limited hip extension, Limited elbow extension, Hydrocephalus, Generalized joint hypermobility OMIM:100800
Laurin-Sandrow Syndrome
Tarsal synostosis, Limitation of joint mobility, Hydrocephalus ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Fanconi Anemia
Ventriculomegaly, Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Agangl... ORPHA:84
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Anencephaly, Cleft p... OMIM:616546
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele, Cleft palate ORPHA:1335
Rabin-Pappas Syndrome
Hydrocephalus, Tracheomalacia OMIM:620155
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Aymé-Gripp Syndrome
Ventriculomegaly, Limitation of joint mobility, Radioulnar synostosis, Hydrocephalus, Camptodacty... ORPHA:1272
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, High palate, Lateral ventricle dilatation, Joint hypermobility ORPHA:300570
Coccidioidomycosis
Increased CSF protein concentration, Hypoglycorrhachia, Osteomyelitis, CSF lymphocytic pleiocytos... ORPHA:228123
Medulloblastoma
Hydrocephalus, Adenomatous colonic polyposis ORPHA:616
Holoprosencephaly
Spinal dysraphism, Gastroesophageal reflux, Median cleft palate, Encephalocele, Joint hypermobili... ORPHA:2162
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Hydrocephalus, Joint hypermobility ORPHA:250989
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Dysphagia ORPHA:25
Fanconi Anemia, Complementation Group L
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Anal atresia, Cleft palate OMIM:614083
Oeis Complex
Duplicated colon, Anteriorly placed anus, Myelomeningocele, Intestinal malrotation, Hydrocephalus... OMIM:258040
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Tracheomal... OMIM:620371
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Bilateral cleft palat... OMIM:610828
Marden-Walker Syndrome
Bifid uvula, Camptodactyly of finger, Joint stiffness, Submucous cleft hard palate, Radioulnar sy... ORPHA:2461
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Tracheomalacia ORPHA:268249
Monosomy 18Q
High palate, Hydrocephalus, Joint hypermobility ORPHA:1600
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Holoprosencephaly, Median cleft palate, Hydrocephalus OMIM:612651
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Cleft palate OMIM:313850
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Tracheomalacia, Joint hypermobility, Hydrocephalus, Craniosynostosis, High palate ORPHA:96121
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Occipital encephalocele, Hydrocephalus ORPHA:1454
Cardiofaciocutaneous Syndrome
Functional abnormality of the gastrointestinal tract, Submucous cleft hard palate, Abnormality of... ORPHA:1340
Jacobsen Syndrome
Flexion contracture, Holoprosencephaly, Hydrocephalus, Pyloric stenosis OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:614643
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Bifid uvula, Anteriorly placed anus, Carpa... OMIM:218600
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Hydrocephalus, Craniosynostosis, Reduced bone mineral density, Recurrent fractures ORPHA:667
Campomelic Dysplasia
Delayed epiphyseal ossification, Spinal dysraphism, Tracheomalacia, Contracture of the distal int... OMIM:114290
Hurler Syndrome
Macroglossia, Limitation of joint mobility, Hydrocephalus, Camptodactyly of finger ORPHA:93473
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Neurooculorenal Syndrome
Ventriculomegaly, Anteriorly placed anus, Intestinal malrotation, Hydrocephalus, Aqueductal stenosis OMIM:620305
Cryptococcosis
Hydrocephalus, Osteomyelitis, Osteolysis ORPHA:1546
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Hydrocephalus, Flexion contracture, Bone cyst, Osteolysis ORPHA:3042
Smith-Lemli-Opitz Syndrome
Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrotation, Epiphyseal stippling,... OMIM:270400
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Limited elbow extension, Radioulnar synostosis, Aganglionic megacol... OMIM:154400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Hydrocephalus OMIM:104350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Recurrent gastroenteritis, Hydrocephalus, Macroglossia, Flexion contracture ORPHA:505248
Isotretinoin-Like Syndrome
Gastroesophageal reflux, Hydrocephalus, Cleft palate ORPHA:2306
Mucopolysaccharidosis Type 1
Joint stiffness, Hydrocephalus ORPHA:579
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Camptodactyly of finger, Intestinal malrotation, Dilat... OMIM:249000
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple suture craniosynostosis, Intestina... ORPHA:567
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Limited elbow movement, Sagittal craniosynostosis, Hydrocephalus, Pat... ORPHA:221120
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Joint stiffness, Hydrocephalus, Macroglossia, Flexion contracture OMIM:253200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Ventriculomegaly, Hydrocephalus ORPHA:228308
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Multiple joint contractures, Hydrocephalus, Dandy-Walker... ORPHA:264450
Orofaciodigital Syndrome I
Myelomeningocele, Ankyloglossia, Hamartoma of tongue, Hydrocephalus, Bifid tongue, High palate, T... OMIM:311200
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Congenital contracture, Camptodactyly of finger, Elbow contracture, Hip cont... OMIM:208150
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, High palate, Arthrogryposis multiplex congenita, Hydrocephalus OMIM:619512
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Aqueductal stenosis, A... OMIM:306955
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus, Joint hypermobility ORPHA:77301
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Joint hypermobility, Narrow palate, Ha... ORPHA:109
Microphthalmia With Limb Anomalies
Synostosis of joints, Synostosis of carpal bones, Camptodactyly of 2nd-5th fingers, Joint hypermo... ORPHA:1106
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Abnormal intestine morphology, Hydrocephalus, Spina bifida, Spin... ORPHA:2369
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Flexion contracture, Cleft soft palate, Hydrocephalus OMIM:619321
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Camptodactyly of toe, Anal atresia, Hydrocephalus, Macroglossia, High pa... ORPHA:261337
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Encephalocele, Cleft palate, Hydrocephalus, An... ORPHA:564
Semilobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Cleft palate, H... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Cleft palate, H... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Cleft palate, H... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Cleft palate, H... ORPHA:93924
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus OMIM:227646
Kabuki Syndrome
Ventriculomegaly, Joint hypermobility, Hydrocephalus, High palate, Cleft palate ORPHA:2322
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Lateral ventricle dilatation, Intestinal malrotation, Joint h... OMIM:147920
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus, Joint hypermobility ORPHA:457284
Gorlin Syndrome
Vertebral fusion, Hydrocephalus ORPHA:377
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Costello Syndrome
Pyloric stenosis, Ventriculomegaly, Tracheomalacia, Limited elbow movement, Hydrocephalus, Achill... OMIM:218040
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus, High palate, Joint hypermobility OMIM:617011
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Loeys-Dietz Syndrome 2
Bifid uvula, Joint contracture of the hand, Joint hypermobility, Eosinophilic infiltration of the... OMIM:610168
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Tracheomalacia, Joint hypermobility, Spina bifida, Hydrocephalus, Craniosynostosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Tracheomalacia, Joint hypermobility, Spina bifida, Hydrocephalus, Craniosynostosis ORPHA:363958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal... OMIM:615287
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Gastroesophageal reflux, Shoulder flexion contracture, Lateral v... OMIM:210710
Craniopharyngioma
Hydrocephalus, Increased susceptibility to fractures ORPHA:54595
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Ventriculomegaly, Short uvula, Osteomyelitis, Ankyloglossia, Joint hypermobi... OMIM:619475
Wolf-Hirschhorn Syndrome
Ventriculomegaly, Gastroesophageal reflux, Malrotation of small bowel, Radioulnar synostosis, Hyd... OMIM:194190
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Neurofibromatosis Type 1
Osteopenia, Joint stiffness, Recurrent fractures, Gastrointestinal stroma tumor, Hydrocephalus, N... ORPHA:636
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Cleft palate, Hyperextensibility of the finger joints ORPHA:163979
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Rectovaginal fistula, Duodenal atresia, Tracheoesophageal... OMIM:107480
Holoprosencephaly 9
Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate, Hydrocephalus, Holoprosencep... OMIM:610829
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr... ORPHA:580
Mend Syndrome
High palate, Cleft palate, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Loeys-Dietz Syndrome 1
Bifid uvula, Joint hypermobility, Eosinophilic infiltration of the esophagus, Hydrocephalus, Camp... OMIM:609192
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Hydrocephalus ORPHA:79282
Fontaine Progeroid Syndrome
High, narrow palate, Coronal craniosynostosis, Gastroesophageal reflux, Anteriorly placed anus, P... OMIM:612289
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Cockayne Syndrome B
Normal pressure hydrocephalus, Osteoporosis, Limitation of joint mobility, Ivory epiphyses of the... OMIM:133540
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Limitation of joint mobility, Joint hypermobility, High palate, Communicating h... ORPHA:457359
Mend Syndrome
High palate, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hydrocephalus OMIM:261740
Yunis-Varon Syndrome
High, narrow palate, Decreased skull ossification, Hydrocephalus, Glossoptosis, Absent sternal os... ORPHA:3472
Cockayne Syndrome A
Ventriculomegaly, Limitation of joint mobility, Hip contracture, Normal pressure hydrocephalus, I... OMIM:216400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Gastric ulcer, Hydrocephalus, Esophageal varix ORPHA:2072
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Fraser Syndrome 1
Myelomeningocele, Abnormal small intestine morphology, Encephalocele, Abnormality of the anus, Hy... OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome
Abnormal rectum morphology, Abnormality of the anus, Hydrocephalus ORPHA:2556
Histiocytoid Cardiomyopathy
Hydrocephalus, Cleft palate ORPHA:137675
Full Nf2-Related Schwannomatosis
Dysphagia, Myelopathy, Hydrocephalus ORPHA:637
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Focal Dermal Hypoplasia
Anteriorly placed anus, Myelomeningocele, Intestinal malrotation, Joint hypermobility, Hiatus her... OMIM:305600
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus ORPHA:538
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Joint contracture, High palate, Dysphagia, ... OMIM:616462
Tetraamelia Syndrome 1
Anal atresia, Hydrocephalus, Cleft palate OMIM:273395
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
High palate, Bone cyst, Hydrocephalus, Joint hypermobility ORPHA:363700
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Gastroesophageal reflux, Lateral ventricle dilatation, Camptodactyly of finger, Subm... OMIM:607872
Tetrasomy 9P
Bifid uvula, Median cleft palate, Hydrocephalus, Arthritis, High palate, Cleft palate, Dandy-Walk... ORPHA:3310
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Intestinal ma... OMIM:312870
Peters Plus Syndrome
Ventriculomegaly, Intestinal fistula, Hydrocephalus, Spina bifida occulta, Anal atresia, Cleft pa... ORPHA:709
Meningioma
Neoplasm of the tongue, Hydrocephalus ORPHA:2495
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Sclerosis of skull base, Hydrocephalus, Spina bifida, Nonossified fifth metata... OMIM:304120
Coffin-Siris Syndrome 12
Gastroesophageal reflux, Velopharyngeal insufficiency, Submucous cleft hard palate, Joint hypermo... OMIM:619325
Exstrophy-Epispadias Complex
Anal stenosis, Abnormality of the gastrointestinal tract, Hydrocephalus, Spina bifida, Anal atresia ORPHA:322
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Gastroesophageal reflux, Lateral ventricle dilatation, Joint hypermobility, Hydroceph... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Submucous cleft soft palate, Joint hypermobility, Synovitis,... ORPHA:3455
Peters-Plus Syndrome
Ventriculomegaly, Anteriorly placed anus, Joint hypermobility, Limited elbow movement, Hydrocepha... OMIM:261540
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Dysphagia, Hydrocephalus, Dandy-Walker malformation OMIM:264090
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Mild fetal ventriculomegaly, Communicating hydrocephalus, Joint hypermobility OMIM:619841
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Wrist flexion con... OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Hydrolethalus Syndrome 1
Cleft palate, Anencephaly, Dandy-Walker malformation, Severe hydrocephalus OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Block vertebrae, Occipital encephalocele, Hydrocephalus, Cleft palate OMIM:164210
Split-Hand/Foot Malformation 6
OMIM:225300
Tooth Agenesis, Selective, 8
OMIM:617073
Oligodontia
ORPHA:99798
Isolated Split Hand-Split Foot Malformation
ORPHA:2440

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 Wnt10b

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 Wnt10b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Exosomes Mediate Mobilization of Autocrine Wnt10b to Promote Axonal Regeneration in the Injured CNS. Cell reports (July 2017) Wnt10btm1e.1(KOMP)Wtsi 28683327

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Wnt10btm1e.1(KOMP)Wtsi Promoter excision from Targeted, non-conditional allele Mice, Tissue
Wnt10btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wnt10btm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells

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