Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 6.82×10-08
hydrocephaly Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral content Wnt10btm1e.1(KOMP)Wtsi HOM   Early adult 3.79×10-06
abnormal cecum morphology Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00
abnormal brain morphology Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 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)
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
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)
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)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Hind Leg and Hip

6 Images

X-ray

XRay Images Forepaw

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

7 Images

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
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation OMIM:123155
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus OMIM:617244
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis, Craniosynostosis OMIM:148800
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Limitation of joint mobility ORPHA:99966
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus, Joint laxity OMIM:236660
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Meckel diverticulum OMIM:300864
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Reduced bone mineral density, Ventriculomegaly, Functional abnormality ... ORPHA:2770
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
1Q21.1 Microduplication Syndrome
Hydrocephalus, Gastroesophageal reflux, Arthrogryposis multiplex congenita ORPHA:250994
Metatropic Dysplasia
Joint stiffness, Hydrocephalus, Coarse metaphyseal trabecularization, Cleft palate, Camptodactyly... ORPHA:2635
Holoprosencephaly 5
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilob... OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Aganglionic megacolon OMIM:304100
Cole-Carpenter Syndrome 1
Recurrent fractures, Hydrocephalus, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosi... OMIM:112240
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus OMIM:312190
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly ORPHA:945
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Vacterl Association With Hydrocephalus
Radial club hand, Hydrocephalus, Anal atresia, Aqueductal stenosis OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Pettigrew Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... ORPHA:2198
Achondroplasia
Limited hip extension, Hydrocephalus, Limited elbow extension, Generalized joint laxity OMIM:100800
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly, Craniosynostosis ORPHA:1528
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate OMIM:614120
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Hydrocephalus With Associated Malformations
Intestinal malrotation, Hydrocephalus OMIM:236640
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Flexion contracture, Bifid uvula, Joint hypermobility OMIM:616222
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
L1 Syndrome
Hydrocephalus, Aganglionic megacolon, Aqueductal stenosis ORPHA:275543
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Joint stiffness, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Chromosome 17P13.1 Deletion Syndrome
High palate, Hydrocephalus, Joint laxity, Elbow flexion contracture, Knee flexion contracture OMIM:613776
Albers-Schönberg Osteopetrosis
Recurrent fractures, Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arth... ORPHA:53
Infantile Sialic Acid Storage Disease
High palate, Osteopenia, Hydrocephalus OMIM:269920
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Craniosynostosis ORPHA:1516
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Hydrocephalus, Rectovaginal fistula, Rectal atresia, Perineal fistula ORPHA:3016
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Dysphagia, Meckel diverticulum ORPHA:163961
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis ORPHA:380
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Flexion contracture, Dandy-Walker malformation OMIM:147800
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, High, narrow palate, Joint hyperflexibility ORPHA:2181
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Hydrocephalus, Ventriculomegaly OMIM:618577
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis OMIM:307000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Joint laxity, Ventriculomegaly OMIM:602501
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia, Epiphyseal stippling ORPHA:1914
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Camptodactyly of finger, Ventriculomegaly, Flexion contracture ORPHA:272
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Muenke Syndrome
Carpal synostosis, Hydrocephalus, High, narrow palate, Coronal craniosynostosis, Tarsal synostosis ORPHA:53271
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Aganglionic megacolon OMIM:613603
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Craniosynostosis, Camptodactyly of toe, Ventriculom... OMIM:175700
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate ORPHA:2183
Triploidy
Hydrocephalus, Cleft palate, Holoprosencephaly, Macroglossia, Intestinal malrotation, Meningocele... ORPHA:3376
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pa... OMIM:259700
Cole-Carpenter Syndrome 2
High palate, Hydrocephalus, Coronal craniosynostosis, Osteopenia, Lambdoidal craniosynostosis OMIM:616294
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Communicating hydrocephalus ORPHA:1237
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Joint hyperflexibility, Ventriculomegaly, Encephalocele, Limita... ORPHA:93274
Lowry-Maclean Syndrome
Hydrocephalus, High, narrow palate, Cleft palate, Craniosynostosis, Osteopenia, Osteoporosis, Pyl... ORPHA:2409
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Hydrocephalus OMIM:600991
Pallister-Hall-Like Syndrome
Microglossia, Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:241800
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Decreased calvarial ossification, Ven... OMIM:617866
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Osteootohepatoenteric Syndrome
Recurrent fractures, Hydrocephalus, Reduced bone mineral density, Ileoileal intussusception, Vill... OMIM:619377
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hydrocephalus, Ventriculomegaly OMIM:618476
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Flexion contracture ORPHA:99947
Myopathy, Centronuclear, X-Linked
High palate, Hydrocephalus, Flexion contracture, Pyloric stenosis, Dandy-Walker malformation OMIM:310400
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Radioulnar synostosis, Craniosynostosis ORPHA:171839
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Intellectual Developmental Disorder, X-Linked 30
High palate, Hydrocephalus OMIM:300558
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hydrocephalus, Ventriculomegaly OMIM:218350
Crouzon Syndrome
Multiple suture craniosynostosis, Hydrocephalus, Narrow palate ORPHA:207
Rhombencephalosynapsis
Anal atresia, Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly, Esophageal atresia, Aga... ORPHA:59315
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Decreased skull ossification OMIM:300863
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Hydrocephalus, Ventriculomegaly OMIM:616355
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Central Precocious Puberty
Hydrocephalus ORPHA:759
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Thanatophoric Dysplasia
Joint stiffness, Hydrocephalus, Joint hyperflexibility, Ventriculomegaly ORPHA:2655
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation OMIM:615287
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Dysphagia, Spina bifida, Cervical myelopathy OMIM:207950
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Fg Syndrome Type 1
High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Gastroesophageal reflux, Generali... ORPHA:93932
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Tracheomalacia, Inte... ORPHA:93259
Mend Syndrome
High palate, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Meckel Syndrome, Type 3
Hydrocephalus, Cleft palate, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Gastroesophageal reflux, Morphological abnormality of the gastrointe... ORPHA:1834
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Hydrocephalus, Gastroesophageal reflux, Osteopenia, Joint hypermobility OMIM:612940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Mental Retardation, Buenos Aires Type
High palate, Hydrocephalus OMIM:249630
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate ORPHA:398189
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Tracheoesophageal fistula OMIM:314390
Tenorio Syndrome
Hydrocephalus, Gastroesophageal reflux, Macroglossia, Osteopenia, Ventriculomegaly OMIM:616260
Meckel Syndrome, Type 4
Hydrocephalus, Cleft palate, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:611134
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Bresek Syndrome
Hydrocephalus, Aganglionic megacolon, Cleft palate ORPHA:85284
Gracile Bone Dysplasia
Hydrocephalus, Ankyloglossia, Decreased skull ossification OMIM:602361
Edinburgh Malformation Syndrome
Joint stiffness, Hydrocephalus ORPHA:1895
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Advanced ossification of carpal bones, Joint contracture of the hand, Cleft palate... OMIM:224400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Delayed ossification of carpal bones, Cleft palate, Abnormal rectum morphology, An... OMIM:239300
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydrocephalus, Cleft palate, Dandy-Walker malformation OMIM:220210
Temple Syndrome
Hydrocephalus, Bifid uvula ORPHA:254516
3C Syndrome
Ectopic anus, Anal atresia, Hydrocephalus, Gastroesophageal reflux, High, narrow palate, Cleft pa... ORPHA:7
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Hydrocephalus, Reduced bone mineral density ORPHA:2720
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Ence... ORPHA:1908
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly, Joint hypermobility OMIM:616362
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Hydrocephalus, Esophageal atresia, Holoprosencephaly ORPHA:77298
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Hydrocephalus, Gastroesophageal reflux, Distal arthrogryposis, Ventriculomegaly, Col... OMIM:619833
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Desmosterolosis
Hydrocephalus, Increased bone mineral density, Cleft palate, Osteopetrosis, Intestinal malrotatio... ORPHA:35107
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Anal atresia, Ectopic anus, Gastroesopha... ORPHA:96170
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Ventriculomegaly OMIM:609757
Nephronophthisis 18
Hydrocephalus OMIM:615862
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology ORPHA:31
1Q44 Microdeletion Syndrome
High palate, Hydrocephalus, Ventriculomegaly, Intestinal malrotation ORPHA:238769
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Osteoporosis, Ventriculomegaly ORPHA:2169
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Apert Syndrome
Ectopic anus, Delayed epiphyseal ossification, Hydrocephalus, Narrow palate, Cervical C5/C6 verte... OMIM:101200
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Esophageal varix, Ventriculomegaly, Inflammation of the large intestine OMIM:614576
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cleft palate, Camptodactyly, Sagittal craniosynostosis, Dandy-Walker malformation ORPHA:459061
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Sclerosis of skull base, Hydrocephalus, Elbow flexion contracture, Knee flexion cont... OMIM:618162
Pfeiffer Syndrome
High palate, Hydrocephalus, Elbow ankylosis, Coronal craniosynostosis, Humeroradial synostosis OMIM:101600
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Holoprosencephaly, Anencephaly, ... ORPHA:63259
Coach Syndrome 2
Hydrocephalus OMIM:619111
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Hydrolethalus
Hydrocephalus, Cleft palate, Anencephaly, Arrhinencephaly, Bifid uvula, Submucous cleft hard palate ORPHA:2189
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Narrow palate, Craniosynostosis, Limited elbow extension, Ventriculomegaly, Anteri... OMIM:123790
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Tracheoesophageal fistula, Ventriculomegaly, Esophageal atresia OMIM:300514
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hydrocephalus ORPHA:2180
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Macroglossia, Dilated fourth ventricle, Ventriculomegaly, Occipital encephalocele ORPHA:370959
Gorlin Syndrome
Hydrocephalus, Vertebral fusion ORPHA:377
Trisomy 1Q
Anal atresia, Hydrocephalus, Cleft palate, Camptodactyly of finger, Ventriculomegaly ORPHA:261344
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate ORPHA:2736
Desmosterolosis
Hydrocephalus, Joint contracture of the hand, Cleft palate, Generalized osteosclerosis, Ventricul... OMIM:602398
Griscelli Syndrome
Pyloric stenosis, Hydrocephalus, Encephalocele ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Hydrocephalus, Abnormally ossified vertebrae ORPHA:3301
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Hydrocephalus, Joint laxity, Dandy-Walker malformation OMIM:612582
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Joint hyperflexibility, Ventriculomegaly ORPHA:60040
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
High palate, Osteopenia, Hydrocephalus, Joint hypermobility OMIM:618590
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Hydrocephalus, Tracheoesophageal fistula, Spina bifida occulta, Sp... ORPHA:2437
Hajdu-Cheney Syndrome
High palate, Hydrocephalus, Intestinal malrotation, Osteopenia, Foot acroosteolysis, Osteoporosis... OMIM:102500
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormal cortical bone morphology OMIM:614886
Proteus-Like Syndrome
Hydrocephalus, Hyperostosis, Communicating hydrocephalus ORPHA:2969
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Alkuraya-Kucinskas Syndrome
High palate, Hydrocephalus, Camptodactyly, Ventriculomegaly, Arthrogryposis multiplex congenita OMIM:617822
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Gastroesophageal reflux OMIM:616482
Osteopathia Striata With Cranial Sclerosis
High palate, Anal atresia, Hydrocephalus, Sclerosis of skull base, Gastroesophageal reflux, Joint... OMIM:300373
Functioning Gonadotropic Adenoma
Osteopenia, Hydrocephalus, Osteoporosis ORPHA:91348
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Coronal craniosynostosis, Camptodactyly, Humeroradial synosto... OMIM:207410
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Cleft palate, Bifid uvula, Protruding tongue, Dandy-Walker malformation OMIM:612938
Hemangioblastoma
Hydrocephalus ORPHA:252054
Otopalatodigital Syndrome Type 2
Myelomeningocele, Carpal synostosis, Hydrocephalus, Increased bone mineral density, Cleft palate,... ORPHA:90652
Icf Syndrome
Macroglossia, Malabsorption, Protruding tongue, Communicating hydrocephalus ORPHA:2268
Peho Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Arthrogryposis multiplex congenita, Limitat... ORPHA:2836
Apert Syndrome
Ectopic anus, Hydrocephalus, Narrow palate, Cleft palate, Bifid uvula, Ventriculomegaly, Cervical... ORPHA:87
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hydrocephalus, Flexion contracture, Osteopenia, Joint hypermobil... OMIM:616007
Joubert Syndrome With Renal Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Encephalocele ORPHA:220497
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Arachnoiditis
Hydrocephalus ORPHA:137817
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Narrow palate, Cleft palate, Craniosynostosis, Anteriorly placed anus ORPHA:1555
Opitz-Kaveggia Syndrome
Multiple joint contractures, Hydrocephalus, Anal atresia, Narrow palate, Joint contracture of the... OMIM:305450
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Hydrocephalus, Narrow palate, Gastroesophageal reflux, Joint contracture of the hand... OMIM:182212
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Craniosynostosis ORPHA:1064
Distal Tetrasomy 15Q
High palate, Hydrocephalus, Flexion contracture, Craniosynostosis, Camptodactyly, Dandy-Walker ma... ORPHA:314588
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Cleft palate ORPHA:1926
Mirage Syndrome
Hydrocephalus, Gastroesophageal reflux, Radial club hand, Esophageal stricture, Achalasia OMIM:617053
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Ventric... OMIM:259720
Marfanoid-Progeroid-Lipodystrophy Syndrome
High palate, Hydrocephalus, High, narrow palate, Craniosynostosis, Hyperextensibility of the fing... OMIM:616914
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Elbow ankylosis, Increased bone mineral density, Cleft palate, Osteopetrosis, High... ORPHA:2658
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Knee flexion contracture OMIM:603387
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Hydrocephalus, High, narrow palate, Anteriorly placed anus, Submucous cleft hard palate OMIM:612863
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly, Meningocele, Dysphagia ORPHA:1136
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Recurrent fractures, Hydrocephalus, Cleft palate, Craniosynostosis, Osteopenia, Osteoporosis, Rad... OMIM:245600
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:2318
Whipple Disease
Malabsorption, Gastrointestinal hemorrhage, Hydrocephalus, Arthritis ORPHA:3452
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Tracheoesophageal fistula, Communicating hydroceph... ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture OMIM:615249
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Tracheoesophageal fistula, Arrhinencephaly, Spi... ORPHA:3412
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Macroglossia, Flexion contracture, Tracheobronchomalacia, Intestinal pseudo-obstru... OMIM:309900
H Syndrome
Recurrent fractures, Malabsorption, Hydrocephalus, Camptodactyly, Osteolysis ORPHA:168569
16P13.2 Microdeletion Syndrome
Hydrocephalus, Gastroesophageal reflux, Flexion contracture, Dilated third ventricle, Ventriculom... ORPHA:500055
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Camptodactyly of finger, Hydranencephaly, Microglossia, Spina bifida ORPHA:2839
Joubert Syndrome
Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:475
Thanatophoric Dysplasia Type 1
Joint stiffness, Hydrocephalus, Ventriculomegaly ORPHA:1860
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Anal stenosis OMIM:601499
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Encephalocele ORPHA:220493
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hydrocephalus, Abnormal trabecular bone morphology OMIM:612301
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Ve... OMIM:619895
Baller-Gerold Syndrome
High palate, Carpal synostosis, Hydrocephalus, Anal atresia, Cleft palate, Coronal craniosynostos... OMIM:218600
Walker-Warburg Syndrome
Hydrocephalus, Cleft palate, Bifid uvula, Ventriculomegaly, Dandy-Walker malformation, Submucous ... ORPHA:899
Achondroplasia
Hydrocephalus, Knee joint hypermobility, Limited elbow extension, Hip joint hypermobility ORPHA:15
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Bicoronal synostosis, Camptodactyly of finger, Joint hypermobility OMIM:619951
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Trisomy 17P
High palate, Hydrocephalus, Cleft palate, Macroglossia, Flexion contracture ORPHA:261290
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cleft palate, Flexion contracture, Encephalocele, Limitation of joint mobility ORPHA:1865
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Dextrocardia
Intestinal malrotation, Hydrocephalus, Meckel diverticulum ORPHA:1666
Scleroderma
Osteomyelitis, Intestinal bleeding, Gastroesophageal reflux, Flexion contracture, Abnormal stomac... ORPHA:801
Hurler Syndrome
Joint stiffness, Hydrocephalus, Flexion contracture, Calvarial hyperostosis, Macroglossia, Crania... OMIM:607014
Stromme Syndrome
Hydrocephalus, Duodenal atresia, Cleft palate, Intestinal malrotation, Jejunal atresia OMIM:243605
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Hydrocephalus, Esophageal varix, Encephalocele ORPHA:974
Primary Ciliary Dyskinesia
Intestinal malrotation, Hydrocephalus, Ventriculomegaly ORPHA:244
Systemic Sclerosis
Osteomyelitis, Intestinal bleeding, Gastroesophageal reflux, Flexion contracture, Abnormal stomac... ORPHA:90291
Cousin Syndrome
Hydrocephalus, Joint contracture of the hand, Cleft palate, Camptodactyly, Wrist flexion contract... OMIM:260660
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Sturge-Weber Syndrome
Dysphagia, Hydrocephalus, Hyperostosis ORPHA:3205
Raine Syndrome
High palate, Hydrocephalus, Increased bone mineral density, Cleft palate, Protruding tongue, Arth... OMIM:259775
15Q Overgrowth Syndrome
High palate, Hydrocephalus, High, narrow palate, Craniosynostosis, Contracture of the proximal in... ORPHA:314585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly, Encephalocele, Congenital contracture OMIM:613150
Gaucher Disease
Joint stiffness, Hydrocephalus, Osteomyelitis, Recurrent fractures, Increased bone mineral densit... ORPHA:355
Shprintzen-Goldberg Syndrome
Joint stiffness, Gastroesophageal reflux, High, narrow palate, Craniosynostosis, Osteopenia, Camp... ORPHA:2462
Cerebrooculonasal Syndrome
High palate, Hydrocephalus, Narrow palate, Cleft palate, Craniosynostosis, Ventriculomegaly, Ence... OMIM:605627
Pseudotrisomy 13 Syndrome
Anal atresia, Hydrocephalus, Holoprosencephaly, Median cleft lip and palate, Encephalocele OMIM:264480
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein OMIM:272200
Hajdu-Cheney Syndrome
Recurrent fractures, Hydrocephalus, Cleft palate, Intestinal malrotation, Osteopenia, Osteoporosi... ORPHA:955
Mucopolysaccharidosis, Type Vii
Joint stiffness, Hydrocephalus, Macroglossia, Flexion contracture, Limitation of joint mobility OMIM:253220
Pontocerebellar Hypoplasia, Type 7
High palate, Hydrocephalus, Ventriculomegaly OMIM:614969
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Neonatal epiphyseal stippling, Epiphyseal stippling, Calvarial hyperostosis OMIM:101800
Mucopolysaccharidosis Type 3
Joint stiffness, Hydrocephalus, Malabsorption, Flexion contracture, Reduced bone mineral density,... ORPHA:581
Cardiofaciocutaneous Syndrome 1
High palate, Hydrocephalus, Gastroesophageal reflux, Hyperextensibility of the finger joints, Ost... OMIM:115150
Dubowitz Syndrome
High palate, Hydrocephalus, Malabsorption, Craniosynostosis, Spina bifida occulta, Rectal prolaps... ORPHA:235
Popov-Chang syndrome
Hydrocephalus, Gastroesophageal reflux OMIM:618428
Alexander Disease
High palate, Hydrocephalus, Aqueductal stenosis, Osteopenia, Dysphagia ORPHA:58
Multiple Sulfatase Deficiency
Joint stiffness, Hydrocephalus ORPHA:585
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Basal Cell Nevus Syndrome
Hydrocephalus, Cleft palate, Hamartomatous stomach polyps, Irregular ossification of hand bones, ... OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Hydrocephalus, Cleft palate, Ventriculomegaly, Meningoencephalocele, Congenital con... OMIM:236670
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Recurrent fractures, Craniosynostosis, T... ORPHA:536467
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Knobloch Syndrome
Pyloric stenosis, Hydrocephalus, Occipital encephalocele, Joint hyperflexibility ORPHA:1571
Genitopalatocardiac Syndrome
Hydrocephalus, Cleft palate ORPHA:2075
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Cleft palate, Holoprosencephaly OMIM:612651
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Velopharyngeal insufficiency, Aqueductal stenosis, Cleft palate, Limited elbow ext... OMIM:154400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly, Cleft palate ORPHA:1812
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Bifid tongue, Lobulated tongue, Tongue nodules OMIM:252100
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Hydrocephalus, Cleft palate, Colonic atresia, Anteriorly placed anus, Colpocephaly OMIM:309801
Congenital Sialidosis Type 2
Hydrocephalus, Protruding tongue ORPHA:93400
Mucopolysaccharidosis Type 1
Malabsorption, Joint stiffness, Hydrocephalus ORPHA:579
Tetrasomy 5P
High palate, Hydrocephalus ORPHA:3309
Cole-Carpenter Syndrome
Recurrent fractures, Joint hyperflexibility, Communicating hydrocephalus ORPHA:2050
Holoprosencephaly-Postaxial Polydactyly Syndrome
Anal atresia, Hydrocephalus, Cleft palate, Holoprosencephaly, Intestinal malrotation, Encephalocele ORPHA:2166
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Bilateral cleft lip and palate, Media... OMIM:610828
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Hypoplasminogenemia
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Sacral Defect With Anterior Meningocele
Myelomeningocele, Hydrocephalus, Meningocele, Rectal abscess, Myeloschisis OMIM:600145
Osteogenesis Imperfecta
Recurrent fractures, Hydrocephalus, Flexion contracture, Osteopenia, Fractures of the long bones,... ORPHA:666
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Hydrocephalus, Sclerosis of skull base, Cleft palate OMIM:304120
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Gastroesophageal reflux, Elbow ankylosis, Flexion contracture, Craniosynostosis, H... ORPHA:95699
Laurin-Sandrow Syndrome
Hydrocephalus, Limitation of joint mobility, Tarsal synostosis ORPHA:2378
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Intestinal malrotation, Anencephaly, Lobulated tongue, Hamartom... OMIM:269860
Fanconi Anemia
High palate, Anal atresia, Hydrocephalus, Cleft palate, Reduced bone mineral density, Tracheoesop... ORPHA:84
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Cleft palate, Encephalocele ORPHA:1335
Aymé-Gripp Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Radioulnar synostosis, Camptodactyly, Ventriculome... ORPHA:1272
Alpha-Mannosidosis, Infantile Form
Recurrent gastroenteritis, Joint stiffness, Cortical thickening of long bone diaphyses, Macroglos... ORPHA:309282
Marshall-Smith Syndrome
High palate, Recurrent fractures, Decreased hip abduction, Hydrocephalus, Craniosynostosis, Gloss... OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Flexion contracture, Holoprosencephaly, Encephalocele OMIM:253800
Joubert Syndrome 2
High palate, Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Coccidioidomycosis
Hydrocephalus, Osteomyelitis, CSF pleocytosis, Hypoglycorrhachia, Arthritis, Osteolysis, Increase... ORPHA:228123
Oeis Complex
Myelomeningocele, Anal atresia, Hydrocephalus, Intestinal malrotation, Anteriorly placed anus, Du... OMIM:258040
Lhermitte-Duclos Disease
Hydrocephalus, Macroglossia ORPHA:65285
Holoprosencephaly
Hydrocephalus, Gastroesophageal reflux, Intestinal atresia, Holoprosencephaly, Spinal dysraphism,... ORPHA:2162
7Q11.23 Microduplication Syndrome
High palate, Hydrocephalus, Tracheomalacia, Craniosynostosis, Ventriculomegaly, Joint hypermobility ORPHA:96121
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Medulloblastoma
Adenomatous colonic polyposis, Hydrocephalus ORPHA:616
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Lateral ventricle dilatation, Normal pressure hydrocephalus, Joint laxity ORPHA:300570
Marden-Walker Syndrome
Joint stiffness, Hydrocephalus, Cleft palate, Camptodactyly of finger, Bifid uvula, Radioulnar sy... ORPHA:2461
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, High, narrow palate, Dilated third ventricle, Hematochezia, Joint hypermobility OMIM:619575
Fanconi Anemia, Complementation Group L
Anal atresia, Hydrocephalus, Cleft palate, Tracheoesophageal fistula, Esophageal atresia OMIM:614083
Glutaryl-Coa Dehydrogenase Deficiency
Dysphagia, Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hydrocephalus, Reduced bone mineral density, Osteopetrosis, Craniosynostosis ORPHA:667
Monosomy 18Q
High palate, Hydrocephalus, Joint hypermobility ORPHA:1600
Arachnoid Cyst
Hydrocephalus, Enlarged fossa interpeduncularis, Holoprosencephaly, Encephalocele ORPHA:2356
Jacobsen Syndrome
Pyloric stenosis, Hydrocephalus, Flexion contracture, Holoprosencephaly OMIM:147791
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Hydrocephalus, Tracheomalacia ORPHA:268249
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
1Q21.1 Microdeletion Syndrome
High palate, Hydrocephalus, Ankyloglossia, Joint hyperflexibility ORPHA:250989
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Delayed epiphyseal ossification, Hydrocephalus, High palate, ... OMIM:114290
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
High palate, Hydrocephalus, Joint laxity, Ventriculomegaly OMIM:617011
Hurler Syndrome
Macroglossia, Hydrocephalus, Limitation of joint mobility, Camptodactyly of finger ORPHA:93473
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
22Q11.2 Deletion Syndrome
Anal atresia, Hydrocephalus, Aganglionic megacolon, Gastroesophageal reflux, Cleft palate, Intest... ORPHA:567
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Cardiofaciocutaneous Syndrome
High palate, Hydrocephalus, Abnormality of the gastrointestinal tract, Functional abnormality of ... ORPHA:1340
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Neoplasm of the liver ORPHA:1454
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Hydrocephalus, Bone cyst, Flexion contracture, Osteolysis ORPHA:3042
Meckel Syndrome, Type 1
Anal atresia, Hydrocephalus, Cleft palate, Intestinal malrotation, Camptodactyly of finger, Dilat... OMIM:249000
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Joint stiffness, Hydrocephalus, Macroglossia, Flexion contracture ORPHA:505248
Pseudoaminopterin Syndrome
High palate, Hydrocephalus, Synostosis of carpal bones, Limited elbow movement, Sagittal craniosy... ORPHA:221120
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Hydrocephalus OMIM:104350
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Gastroesophageal reflux, Dandy-Walker malformation, Holoprosencephaly, Cleft palat... OMIM:270400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Cryptococcosis
Osteomyelitis, Hydrocephalus, Osteolysis ORPHA:1546
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Cleft palate OMIM:616546
Mucopolysaccharidosis, Type Vi
Joint stiffness, Hydrocephalus, Macroglossia, Flexion contracture, Cervical myelopathy OMIM:253200
Trisomy 8P
Multiple joint contractures, Hydrocephalus, Cleft palate, Malrotation of small bowel, Bifid uvula... ORPHA:264450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, High, narrow palate, Ventriculomegaly ORPHA:228308
Isotretinoin-Like Syndrome
Hydrocephalus, Gastroesophageal reflux, Cleft palate ORPHA:2306
Loeys-Dietz Syndrome 1
Hydrocephalus, Cleft palate, Craniosynostosis, Eosinophilic infiltration of the esophagus, Bifid ... OMIM:609192
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Hydrocephalus, Cleft palate, Bifid tongue, Lobulated tongue, Hamar... OMIM:311200
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Hydrocephalus, Aqueductal stenosis, Arthrogryposis multiplex congenita OMIM:619512
Monosomy 9Q22.3
Hydrocephalus, Joint hyperflexibility, Ventriculomegaly ORPHA:77301
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Narrow palate, Intestinal polyposis, Joint hyperflexibility,... ORPHA:109
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Cleft palate, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Camptodactyly of 2nd-5th fingers, Synostosis of carpal ... ORPHA:1106
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Hydrocephalus, Intestinal malrotation, Flexion contracture OMIM:619321
Distal 22Q11.2 Microduplication Syndrome
High palate, Anal atresia, Hydrocephalus, Macroglossia, Camptodactyly of toe, Camptodactyly of fi... ORPHA:261337
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Furrowed tongue, Ence... ORPHA:564
Facial Dysmorphism With Multiple Malformations
Anal atresia, Hydrocephalus, Rectovaginal fistula OMIM:227255
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Hydrocephalus, Esophageal atresia OMIM:227646
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Cleft palate, Anencephaly, Spina bifida occulta, Abnormal intest... ORPHA:2369
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Anal atresia, Duodenal atresia, Aqueduc... OMIM:306955
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Gastroesophageal reflux, Cleft palate, Flexion contracture, Morpholog... ORPHA:220386
Alobar Holoprosencephaly
High palate, Hydrocephalus, Gastroesophageal reflux, Cleft palate, Flexion contracture, Morpholog... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Gastroesophageal reflux, Cleft palate, Flexion contracture, Morpholog... ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Gastroesophageal reflux, Cleft palate, Flexion contracture, Morpholog... ORPHA:93924
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Joint hypermobility ORPHA:457284
Townes-Brocks Syndrome 1
Anal atresia, Hydrocephalus, Duodenal atresia, Gastroesophageal reflux, Holoprosencephaly, Trache... OMIM:107480
Fetal Akinesia Deformation Sequence 1
High palate, Hydrocephalus, Elbow ankylosis, Cleft palate, High, narrow palate, Camptodactyly of ... OMIM:208150
Kabuki Syndrome
High palate, Hydrocephalus, Cleft palate, Ventriculomegaly, Joint hyperflexibility ORPHA:2322
Costello Syndrome
High palate, Hydrocephalus, Macroglossia, Tracheomalacia, Hyperextensibility of the finger joints... OMIM:218040
Loeys-Dietz Syndrome 2
Hydrocephalus, Joint contracture of the hand, Cleft palate, Craniosynostosis, Eosinophilic infilt... OMIM:610168
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Kabuki Syndrome 1
High palate, Anal atresia, Hydrocephalus, Malabsorption, Cleft palate, Intestinal malrotation, An... OMIM:147920
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Tracheomalacia, Craniosynostosis, Joint laxity, Ventriculomegaly, Joint hypermobil... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Tracheomalacia, Craniosynostosis, Joint laxity, Ventriculomegaly, Joint hypermobil... ORPHA:363958
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hydrocephalus, Cleft palate ORPHA:163979
Craniopharyngioma
Hydrocephalus, Increased susceptibility to fractures ORPHA:54595
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Wolf-Hirschhorn Syndrome
Hydrocephalus, Abnormal sternal ossification, Gastroesophageal reflux, Cleft palate, Malrotation ... OMIM:194190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Hydrocephalus, Osteomyelitis, High, narrow palate, Short uvula, Joint laxity, Ventri... OMIM:619475
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Macroglossia, Communicating hydrocephalus, Hip osteoarthritis, Cont... ORPHA:580
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Hydrocephalus ORPHA:79282
Mend Syndrome
High palate, Hydrocephalus, Cleft palate, Dandy-Walker malformation ORPHA:401973
Fontaine Progeroid Syndrome
Hydrocephalus, Gastroesophageal reflux, High, narrow palate, Craniosynostosis, Coronal craniosyno... OMIM:612289
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
High palate, Communicating hydrocephalus, Joint laxity, Ventriculomegaly, Limitation of joint mob... ORPHA:457359
Yunis-Varon Syndrome
Hydrocephalus, High, narrow palate, Glossoptosis, Arrhinencephaly, Pyloric stenosis, Decreased sk... ORPHA:3472
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Normal pressure hydrocephalus, Limitation of joint ... OMIM:133540
Tetraamelia Syndrome 1
Anal atresia, Hydrocephalus, Cleft palate OMIM:273395
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Holoprosencephaly, Short hard palate, Bilateral cleft lip and palate OMIM:610829
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome