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

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
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 0.0%
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 Hind Leg and Hip

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

6 Images

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly 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, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Kleeblattschaedel
Hydrocephalus, Craniosynostosis, Elbow ankylosis OMIM:148800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
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 concentration 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 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
Hydrocephalus, Ventriculomegaly OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Nasu-Hakola Disease
Reduced bone mineral density, Hydrocephalus, Bone cyst, Functional abnormality of the gastrointes... ORPHA:2770
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, High palat... OMIM:609637
1Q21.1 Microduplication Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita, Gastroesophageal reflux ORPHA:250994
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Metatropic Dysplasia
Abnormal cortical bone morphology, Hydrocephalus, Abnormal enchondral ossification, Joint stiffne... ORPHA:2635
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Aganglionic megacolon, High palate OMIM:304100
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Spina bifida ORPHA:945
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Hydrocephalus, Communicating hydrocephalus, Coronal cra... OMIM:112240
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Radial club hand, Anal atresia OMIM:276950
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia OMIM:312190
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Fried Syndrome
Hydrocephalus, High palate ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Cleft palate, Anencephaly OMIM:614120
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon ORPHA:275543
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Hydrocephalus, Recurrent fractures, De... OMIM:259710
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Joint stiffness ORPHA:2182
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Celiac disease OMIM:248000
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Infantile Sialic Acid Storage Disease
Hydrocephalus, High palate, Osteopenia OMIM:269920
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Albers-Schönberg Osteopetrosis
Hydrocephalus, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandib... ORPHA:53
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula, Anal atresia, Rectal atresia ORPHA:3016
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Craniosynostosis ORPHA:1516
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele 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
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Macroglossia, Myelomeningocele, Epiphyseal stippling ORPHA:1914
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis ORPHA:380
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Joint hypermobility, High, narrow palate ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Macroglossia, Flexion contracture OMIM:613155
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Cleft palate, Flexion contracture OMIM:147800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Dandy-Walker malformation, Meckel diverticulum, Dysphagia, Ventriculomegaly ORPHA:163961
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Flexion contracture, Camptodactyly of finger ORPHA:272
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Joint hypermobility OMIM:602501
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Triploidy
Meningocele, Hydrocephalus, Decreased skull ossification, Intestinal malrotation, Cleft palate, H... ORPHA:3376
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Hydrocephalus, Increased bone mineral de... OMIM:259700
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate ORPHA:2183
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus, Anal atresia, Camptodactyly of toe, Ventriculomegaly, Joint cont... OMIM:175700
Muenke Syndrome
High, narrow palate, Tarsal synostosis, Hydrocephalus, Coronal craniosynostosis, Carpal synostosis ORPHA:53271
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Delayed pubic bone ossification, Flexion contracture, Delayed vertebral ossification OMIM:613330
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Hydrocephalus, High palate, Coronal craniosynostosis, Re... OMIM:616294
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Communicating hydrocephalus ORPHA:1237
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Hydrocephalus, High palate, Congenital contracture, Colpocephaly, Ventriculo... OMIM:620156
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Limitation of joint mobility, Holoprosencephaly, Joint hypermobilit... ORPHA:93274
Fanconi Anemia, Complementation Group R
Hydrocephalus, Radial dysplasia, Anal atresia OMIM:617244
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Reduced bone mineral density, Hydrocephalus, Ileoileal intussu... OMIM:619377
Lowry-Maclean Syndrome
Osteopenia, High, narrow palate, Hydrocephalus, Midgut malrotation, Osteoporosis, Pyloric stenosi... ORPHA:2409
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
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Joint contracture, Cleft palate, Ventr... OMIM:225790
Temple Syndrome
Hydrocephalus, High palate, Cleft palate, Bifid uvula, Flexion contracture, Joint hypermobility OMIM:616222
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Flexion contracture ORPHA:99947
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Radioulnar synostosis ORPHA:171839
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Pyloric stenosis OMIM:218350
Crouzon Syndrome
Hydrocephalus, Narrow palate, Multiple suture craniosynostosis ORPHA:207
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation, High palate, Pyloric stenosis, Flexion contracture OMIM:310400
Tenorio Syndrome
Osteopenia, Gastroesophageal reflux, Hydrocephalus, Joint hypermobility, Ventriculomegaly, Macrog... OMIM:616260
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Hydrocephalus, Dandy-Walker malformation, Increased skull os... OMIM:618476
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Dysphagia OMIM:207950
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Pyloric stenosis OMIM:616355
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Anal atresia... ORPHA:59315
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Fg Syndrome Type 1
Craniosynostosis, Gastroesophageal reflux, Hydrocephalus, Limited elbow extension and supination,... 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
Hydrocephalus, High palate OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Tracheomalacia, Hydrocephalus, Limitation of joint mobility, High palate, An... ORPHA:93259
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Cleft palate OMIM:607361
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Joint hypermobility, Joint stiffness ORPHA:2655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Gastroesophageal reflux, Hydrocephalus, High palate, Joint hypermobility OMIM:612940
Pettigrew Syndrome
Aqueductal stenosis, Calvarial osteosclerosis, Hydrocephalus, Dandy-Walker malformation, Flexion ... OMIM:304340
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal tract morpho... ORPHA:1834
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Cleft palate, Microglossia OMIM:241800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate ORPHA:398189
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Limitation of joint mobility, Camptodactyly, Cleft palate, Advanced... OMIM:224400
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:611134
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Spina bifida occulta, Hydrocephalus, Ectopic anus, Myelomeningocele, Block vertebr... OMIM:613686
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Emanuel Syndrome
Gastroesophageal reflux, Hydrocephalus, Dandy-Walker malformation, High palate, Anal atresia, Int... OMIM:609029
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hydrocephalus, Delayed ossification of carpal bones, Abnormal rectum morph... OMIM:239300
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate, Holoprosencephaly, Spinal d... ORPHA:1908
Temple Syndrome
Hydrocephalus, Bifid uvula ORPHA:254516
Gracile Bone Dysplasia
Hydrocephalus, Decreased skull ossification, Ankyloglossia OMIM:602361
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Joint hypermobility OMIM:616362
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Gastroesophageal reflux, Hydrocephalus, High palate, Colpocephaly, Distal arthrogryposis, Ventric... OMIM:619833
Edinburgh Malformation Syndrome
Hydrocephalus, Joint stiffness ORPHA:1895
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Duodenal ulcer, Dandy-Walker malformation OMIM:217090
Bresek Syndrome
Hydrocephalus, Aganglionic megacolon, Cleft palate ORPHA:85284
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, High palate, Camptodactyly OMIM:614846
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Desmosterolosis
Osteopetrosis, Hydrocephalus, Increased bone mineral density, Intestinal malrotation, Bifid uvula... ORPHA:35107
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Reduced bone mineral density, High palate ORPHA:2720
Crouzon Syndrome
Lambdoidal craniosynostosis, Hydrocephalus, High palate, Coronal craniosynostosis, Sagittal crani... OMIM:123500
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Osteoporosis ORPHA:2169
3C Syndrome
High, narrow palate, Gastroesophageal reflux, Hydrocephalus, Dandy-Walker malformation, Ectopic a... ORPHA:7
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, High palate OMIM:609757
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Cleft palate, Anal atresia OMIM:220210
Apert Syndrome
Narrow palate, Limited elbow movement, Lambdoidal craniosynostosis, Esophageal atresia, Craniosyn... OMIM:101200
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology ORPHA:31
Emanuel Syndrome
Gastroesophageal reflux, Hydrocephalus, Dandy-Walker malformation, Ectopic anus, High palate, Ana... ORPHA:96170
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, High palate, Intestinal malrotation ORPHA:238769
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Cleft palate, Sagittal craniosynostosis ORPHA:459061
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Pfeiffer Syndrome
Hydrocephalus, High palate, Humeroradial synostosis, Coronal craniosynostosis, Elbow ankylosis OMIM:101600
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Macroglossia ORPHA:370959
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Coach Syndrome 2
Hydrocephalus OMIM:619111
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly, Esophageal varix, Inflammation of the large intestine OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Fanconi Anemia, Complementation Group B
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly, 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
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Flexion contracture, Lateral v... OMIM:613154
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Anal atresia, Esophageal atresia, Tracheoesophageal fistula OMIM:314390
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, High palate, Anal atresia, Joint hypermobility OMIM:612582
Griscelli Syndrome
Hydrocephalus, Pyloric stenosis, Encephalocele ORPHA:381
Spondyloepimetaphyseal Dysplasia, Krakow Type
Delayed pubic bone ossification, Hydrocephalus, High palate, Knee flexion contracture, Sclerosis ... OMIM:618162
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormal cortical bone morphology OMIM:614886
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uvula, Cleft palate, Cleft soft palate ORPHA:2736
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Knee flexion contracture OMIM:603387
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hydrocephalus, Abnormal trabecular bone morphology, Lateral ventri... OMIM:612301
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, High palate ORPHA:2180
Desmosterolosis
Hydrocephalus, Cleft palate, Generalized osteosclerosis, Ventriculomegaly, Arthrogryposis multipl... OMIM:602398
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Abnormally ossified vertebrae, Anal atresia ORPHA:3301
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Proteus-Like Syndrome
Hydrocephalus, Hyperostosis, Communicating hydrocephalus ORPHA:2969
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, High palate, Tracheoesophageal fistula, Myelomeningocele, Sp... ORPHA:2437
Hydrolethalus
Anencephaly, Hydrocephalus, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2189
Functioning Gonadotropic Adenoma
Hydrocephalus, Osteoporosis, Osteopenia ORPHA:91348
Trisomy 1Q
Hydrocephalus, Anal atresia, Camptodactyly of finger, Cleft palate, Ventriculomegaly ORPHA:261344
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, High palate, Camptodactyly, Ventriculomegaly, Arthrogry... OMIM:617822
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Hydrocephalus, Camptodactyly, Humeroradial synostosis, Coronal crani... OMIM:207410
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Joint hypermobility, High palate, Osteopenia OMIM:618590
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Joint hypermobility ORPHA:60040
Hemangioblastoma
Hydrocephalus ORPHA:252054
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, High palate, Congenital finger flexion contractures, Osteoporosis,... OMIM:620351
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Flexion contracture of toe, Spina bifida occulta, Tracheomalacia, Hydrocephalus, G... OMIM:300373
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, High palate, Cleft palate, Sclerosis of skull base, Joint hypermobili... OMIM:130720
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Protruding tongue, Bifid uvula, Cleft palate OMIM:612938
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Gastroesophageal reflux, Fractured rib, Communicating h... OMIM:618188
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Mirage Syndrome
Radial club hand, Gastroesophageal reflux, Hydrocephalus, Achalasia, Esophageal stricture OMIM:617053
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
Osteopenia, Hydrocephalus, Elbow flexion contracture, Osteoporosis, Generalized osteoporosis, Cle... OMIM:245600
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Encephalocele, Hydrocephalus, Increased bone mineral density, Glossoptosis, Sy... ORPHA:90652
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation, High palate, Camptodactyly, Flexion contracture, Cranio... ORPHA:314588
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Apert Syndrome
Narrow palate, Esophageal atresia, Hydrocephalus, Ectopic anus, Cervical C5/C6 vertebrae fusion, ... ORPHA:87
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Hydrocephalus, Cleft palate, Craniosynostosis, Anteriorly placed anus ORPHA:1555
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Joint hypermobility, Camptodactyly of finger, Bicoronal synostosis OMIM:619951
Peho Syndrome
Hydrocephalus, Limitation of joint mobility, Flexion contracture, Ventriculomegaly, Arthrogryposi... ORPHA:2836
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Delayed epiphyseal ossification, Hydrocephalus, Flexion contracture, Joint hypermobil... OMIM:616007
Trisomy 17P
Hydrocephalus, High palate, Cleft palate, Flexion contracture, Macroglossia ORPHA:261290
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Communicating hydrocephalus ORPHA:1064
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Hydrocephalus, High palate, Lateral ventricle dilatation, Submucous cleft ha... OMIM:612863
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, High, narrow palate, Abnormal cortical bone morphology, Hydr... ORPHA:2658
Joubert Syndrome With Renal Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Encephalocele ORPHA:220497
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Narrow palate, Gastroesophageal reflux, Hydrocephalus, High palate, Camptodactyly, Jo... OMIM:182212
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Cleft palate ORPHA:1926
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Narrow palate, Craniosynostosis, Hydrocephalus, High palate, Bifid uvula... OMIM:123790
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Arachnoiditis
Hydrocephalus ORPHA:137817
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Hydrocephalus, Tracheobronchomalacia, Flexion contracture, Macrogl... OMIM:309900
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hydrocephalus, Increased bone mineral density, Decreased ost... OMIM:259720
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Hydrocephalus, Camptodactyly, Anal atresia, Intestinal malrotation,... OMIM:305450
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Hydrocephalus, Lateral ventricular asymmetry, Hyperextensibility of the fing... OMIM:616914
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:614424
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Hydrocephalus, Dilated third ventricle, Flexion contracture, Ventriculom... ORPHA:500055
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Camptodactyly of finger, Cleft palate, Microglossia ORPHA:2839
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:2318
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture OMIM:615249
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Limitation of joint mobility, Cleft palate, Flexion contracture ORPHA:1865
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly, Joint stiffness ORPHA:1860
Achondroplasia
Hydrocephalus, Hip joint hypermobility, Limited elbow extension, Knee joint hypermobility ORPHA:15
Hajdu-Cheney Syndrome
Osteopenia, Osteolytic defects of the phalanges of the hand, Pathologic fracture, Hydrocephalus, ... OMIM:102500
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Encephalocele ORPHA:220493
Joubert Syndrome
Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:475
Walker-Warburg Syndrome
Hydrocephalus, Dandy-Walker malformation, Cleft palate, Bifid uvula, Ventriculomegaly, Submucous ... ORPHA:899
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Anal stenosis OMIM:601499
Vacterl With Hydrocephalus
Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Spina bifida, ... ORPHA:3412
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly, Intestinal malrotation ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Dextrocardia
Hydrocephalus, Intestinal malrotation, Meckel diverticulum ORPHA:1666
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, C... ORPHA:1780
Stromme Syndrome
Hydrocephalus, Intestinal malrotation, Cleft palate, Jejunal atresia, Duodenal atresia OMIM:243605
Sturge-Weber Syndrome
Hydrocephalus, Dysphagia, Hyperostosis ORPHA:3205
Raine Syndrome
Subperiosteal bone formation, Hydrocephalus, Increased bone mineral density, High palate, Protrud... OMIM:259775
Hurler Syndrome
Cranial hyperostosis, Hydrocephalus, Calvarial hyperostosis, Joint stiffness, Flexion contracture... OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Congenital contracture, Cleft palate, Ventriculomegaly, Macroglossia OMIM:613150
Shprintzen-Goldberg Syndrome
Osteopenia, High, narrow palate, Craniosynostosis, Gastroesophageal reflux, Communicating hydroce... ORPHA:2462
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Osteolytic defects of the phalanges of the hand, Gastr... ORPHA:90291
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
15Q Overgrowth Syndrome
High, narrow palate, Hydrocephalus, Dandy-Walker malformation, High palate, Bifid uvula, Contract... ORPHA:314585
Adams-Oliver Syndrome
Hydrocephalus, Gastrointestinal hemorrhage, Esophageal varix, Encephalocele ORPHA:974
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele OMIM:600145
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Hydrocephalus, Elbow flexion contracture, High palate, Spina bifida, Knee fl... OMIM:613776
Cerebrooculonasal Syndrome
Narrow palate, Craniosynostosis, Encephalocele, Hydrocephalus, Dandy-Walker malformation, High pa... OMIM:605627
Hajdu-Cheney Syndrome
Osteopenia, Hydrocephalus, Decreased skull ossification, Osteoporosis, Intestinal malrotation, Co... ORPHA:955
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tracheomalacia, Hydrocephalus, High palate, Osteoporosis, Radioulnar synostosis, Join... ORPHA:536467
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly, High palate OMIM:614969
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Alexander Disease
Osteopenia, Aqueductal stenosis, Hydrocephalus, High palate, Dysphagia ORPHA:58
Congenital Syphilis
Periostitis, Hydrocephalus, High palate, CSF pleocytosis, Synovitis ORPHA:499009
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Anal atresia, Median cleft palate, Holoprosencephaly OMIM:264480
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Cardiofaciocutaneous Syndrome 1
Osteopenia, Gastroesophageal reflux, Hydrocephalus, Hyperextensibility of the finger joints, High... OMIM:115150
Multiple Sulfatase Deficiency
Hydrocephalus, Joint stiffness ORPHA:585
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Whipple Disease
Hydrocephalus, Arthritis, Gastrointestinal hemorrhage ORPHA:3452
Basal Cell Nevus Syndrome 1
Hydrocephalus, Hamartomatous stomach polyps, Spina bifida, Cleft palate, Irregular ossification o... OMIM:109400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Neonatal epiphyseal stippling, Calvarial hyperostosis, Epiphyseal stippling 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
Hydrocephalus, Ventriculomegaly, Cleft palate ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Anal atr... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Flexion contracture, Encephalocele OMIM:253800
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Wrist flexion contracture, Camptodactyly, Humeroradial synostosis... OMIM:260660
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Cleft palate, Anencephaly OMIM:612284
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Spina bifida occulta, Hydrocephalus, High palate, Joint hypermobi... ORPHA:235
Cole-Carpenter Syndrome
Joint hypermobility, Recurrent fractures, Communicating hydrocephalus ORPHA:2050
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Pyloric stenosis, Joint hypermobility ORPHA:1571
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Anal atresia, Intestinal malrotation, Cleft palate, Holoprosencephaly ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Anal atresia, Cleft palate, Colpocephaly, Colonic atresia, Anteriorly placed anus OMIM:309801
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly, Aganglionic megacolon OMIM:613603
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Craniofacial hyperostosis, Hydrocephalus, Joint stiffness, Flexion ... ORPHA:581
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hydrocephalus, Dilated third ventricle, Hematochezia, Lateral ventricle dila... OMIM:619575
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Cleft palate, Ventriculomegaly, Duodenal atresia OMIM:257300
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Limitation of joint mobility, Joint stiffness, Flexion contracture, Macroglossia OMIM:253220
Tetrasomy 5P
Hydrocephalus, High palate ORPHA:3309
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
H Syndrome
Hydrocephalus, Camptodactyly, Recurrent fractures, Osteolysis ORPHA:168569
Orofaciodigital Syndrome Ii
Hydrocephalus, High palate, Cleft palate, Lobulated tongue, Tongue nodules, Bifid tongue OMIM:252100
Gaucher Disease
Osteopenia, Hydrocephalus, Increased bone mineral density, Abnormal bone structure, Joint stiffne... ORPHA:355
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Icf Syndrome
Macroglossia, Protruding tongue, Communicating hydrocephalus ORPHA:2268
Genitopalatocardiac Syndrome
Hydrocephalus, Cleft palate ORPHA:2075
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Limited elbow extension, Metatarsal synostosis, High, narrow palate, Tarsal synostosis, Gastroeso... ORPHA:95699
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Congenital Sialidosis Type 2
Hydrocephalus, Protruding tongue ORPHA:93400
Marshall-Smith Syndrome
Large sternal ossification centers, Craniosynostosis, Hydrocephalus, Glossoptosis, High palate, D... OMIM:602535
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Osteogenesis Imperfecta
Osteopenia, Intestinal obstruction, Reduced bone mineral density, Abnormal cortical bone morpholo... ORPHA:666
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Median cleft palate, Intestinal malrotation, Lobulated tongue, Holopr... OMIM:269860
Joubert Syndrome 2
Hydrocephalus, High palate, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Duodenal ulcer ORPHA:722
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Communicating hydrocephalus, Cortical thickening of long bone d... ORPHA:309282
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Gastroesophageal reflux OMIM:616482
Achondroplasia
Hydrocephalus, Limited hip extension, Limited elbow extension, Generalized joint hypermobility OMIM:100800
Laurin-Sandrow Syndrome
Hydrocephalus, Tarsal synostosis, Limitation of joint mobility ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Fanconi Anemia
Reduced bone mineral density, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Hydrocephal... ORPHA:84
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Cleft palate, Occipital meningocele, Ventriculomegaly, Hamartoma of t... OMIM:616546
Pentalogy Of Cantrell
Hydrocephalus, Cleft palate, Anencephaly, Encephalocele ORPHA:1335
Rabin-Pappas Syndrome
Hydrocephalus, Tracheomalacia OMIM:620155
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Aymé-Gripp Syndrome
Craniosynostosis, Hydrocephalus, Limitation of joint mobility, Camptodactyly, Cleft palate, Radio... ORPHA:1272
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint hypermobility, Normal pressure hydrocephalus, High palate, Lateral ventricle dilatation ORPHA:300570
Coccidioidomycosis
Hydrocephalus, Arthritis, CSF lymphocytic pleiocytosis, CSF pleocytosis, Increased CSF protein co... ORPHA:228123
Medulloblastoma
Hydrocephalus, Adenomatous colonic polyposis ORPHA:616
Holoprosencephaly
Intestinal atresia, Encephalocele, Gastroesophageal reflux, Hydrocephalus, Dandy-Walker malformat... ORPHA:2162
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Joint hypermobility, High palate, Ankyloglossia ORPHA:250989
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Dysphagia, Communicating hydrocephalus ORPHA:25
Fanconi Anemia, Complementation Group L
Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula, Cleft palate OMIM:614083
Oeis Complex
Rectovaginal fistula, Hydrocephalus, Myelomeningocele, Anal atresia, Intestinal malrotation, Dupl... OMIM:258040
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydranencephaly, Hydrocephalus, Tracheomalacia, Dilated third ventricle, High pala... OMIM:620371
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Uni... OMIM:610828
Marden-Walker Syndrome
Hydrocephalus, Joint stiffness, Camptodactyly of finger, Pyloric stenosis, Bifid uvula, Cleft pal... ORPHA:2461
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Tracheomalacia ORPHA:268249
Monosomy 18Q
Hydrocephalus, Joint hypermobility, High palate ORPHA:1600
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Median cleft palate OMIM:612651
Thoracoabdominal Syndrome
Hydrocephalus, Cleft palate, Anencephaly OMIM:313850
Lhermitte-Duclos Disease
Hydrocephalus, Macroglossia ORPHA:65285
7Q11.23 Microduplication Syndrome
Craniosynostosis, Tracheomalacia, Hydrocephalus, High palate, Joint hypermobility, Ventriculomegaly ORPHA:96121
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Neoplasm of the liver ORPHA:1454
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Hydrocephalus, Functional abnormality of the gastroint... ORPHA:1340
Jacobsen Syndrome
Hydrocephalus, Pyloric stenosis, Holoprosencephaly, Flexion contracture OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Baller-Gerold Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Spina bifida occulta, Rectovaginal fistula, ... OMIM:218600
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hydrocephalus, Craniosynostosis, Recurrent fractures ORPHA:667
Hurler Syndrome
Hydrocephalus, Camptodactyly of finger, Macroglossia, Limitation of joint mobility ORPHA:93473
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Delayed epiphyseal ossification, Hydrocephalus, Absent sterna... OMIM:114290
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Neurooculorenal Syndrome
Aqueductal stenosis, Hydrocephalus, Intestinal malrotation, Ventriculomegaly, Anteriorly placed anus OMIM:620305
Cryptococcosis
Hydrocephalus, Osteomyelitis, Osteolysis ORPHA:1546
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Bone cyst, Hip contracture, Flexion contracture, Osteolysis ORPHA:3042
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Epiphyseal stippling, Hydrocephalus, Dandy-Walker... OMIM:270400
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Velopharyngea... OMIM:154400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, High palate OMIM:104350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Joint stiffness, Flexion contracture, Recurrent gastroenteritis, Macroglossia ORPHA:505248
Isotretinoin-Like Syndrome
Hydrocephalus, Cleft palate, Gastroesophageal reflux ORPHA:2306
Mucopolysaccharidosis Type 1
Hydrocephalus, Joint stiffness ORPHA:579
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Anal atresia, Dil... OMIM:249000
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Anorectal anomaly, Meningocele, Hydrocephalus... ORPHA:567
Pseudoaminopterin Syndrome
Limited elbow movement, Hydrocephalus, High palate, Synostosis of carpal bones, Sagittal craniosy... ORPHA:221120
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Joint stiffness, Flexion contracture, Macroglossia OMIM:253200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly, High, narrow palate ORPHA:228308
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation, Bifid uvula, Cleft palate, Malrotation of small bowel, ... ORPHA:264450
Orofaciodigital Syndrome I
Hydrocephalus, High palate, Myelomeningocele, Ankyloglossia, Cleft palate, Lobulated tongue, Tong... OMIM:311200
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Hydrocephalus, High palate, Wrist flexion contracture, Congenital contractur... OMIM:208150
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Posteriorly placed anus, Myelomeningocele, Anal atresia, Bloc... OMIM:306955
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis, Arthrogryposis multiplex congenita, High palate OMIM:619512
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Joint hypermobility ORPHA:77301
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology... ORPHA:109
Microphthalmia With Limb Anomalies
Tarsal synostosis, Camptodactyly of 2nd-5th fingers, Hydrocephalus, High palate, Synostosis of ca... ORPHA:1106
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Abnormal intestine morphology, M... ORPHA:2369
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Intestinal malrotation, Flexion contracture, Cleft soft palate OMIM:619321
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, High palate, Anal atresia, Camptodactyly of toe, Camptodactyly of finger, Macroglo... ORPHA:261337
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Furrowed tongue, Lobar holo... ORPHA:564
Semilobar Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal tract morph... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal tract morph... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal tract morph... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Hydrocephalus, Abnormal gastrointestinal tract morph... ORPHA:93924
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula OMIM:227646
Kabuki Syndrome
Hydrocephalus, High palate, Cleft palate, Joint hypermobility, Ventriculomegaly ORPHA:2322
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Hydrocephalus, High palate, Anal atresia, Intestinal malrotat... OMIM:147920
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Joint hypermobility ORPHA:457284
Gorlin Syndrome
Hydrocephalus, Vertebral fusion ORPHA:377
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Costello Syndrome
Limited elbow movement, Tracheomalacia, Hydrocephalus, Hyperextensibility of the finger joints, H... OMIM:218040
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint hypermobility, Ventriculomegaly, High palate, Communicating hydrocephalus OMIM:617011
Loeys-Dietz Syndrome 2
Hydrocephalus, Camptodactyly, Osteoporosis, Eosinophilic infiltration of the esophagus, Bifid uvu... OMIM:610168
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Koolen-De Vries Syndrome Due To A Point Mutation
Craniosynostosis, Tracheomalacia, Hydrocephalus, Spina bifida, Joint hypermobility, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Craniosynostosis, Tracheomalacia, Hydrocephalus, Spina bifida, Joint hypermobility, Ventriculomegaly ORPHA:363958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Delayed epiphyseal ossification, Hydrocephalus, Shoulder flexion contrac... OMIM:210710
Craniopharyngioma
Hydrocephalus, Increased susceptibility to fractures ORPHA:54595
Wolf-Hirschhorn Syndrome
Abnormal sternal ossification, Gastroesophageal reflux, Hydrocephalus, Cleft palate, Radioulnar s... OMIM:194190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Hydrocephalus, High palate, Ankyloglossia, Joint hypermobility,... OMIM:619475
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Neurofibromatosis Type 1
Osteopenia, Hydrocephalus, Gastrointestinal stroma tumor, Joint stiffness, Neoplasm of the gastro... ORPHA:636
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome