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 content Wnt10btm1e.1(KOMP)Wtsi HOM   Early adult 4.41×10-06
decreased bone mineral density Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 9.67×10-08
hydrocephaly Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00
abnormal brain morphology Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00
abnormal cecum morphology Wnt10btm1e.1(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 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 Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 Forepaw

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Hind Leg and Hip

6 Images

X-ray

XRay Images Skull Lateral Orientation

6 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
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus OMIM:617244
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus ORPHA:99966
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Hydrocephalus OMIM:236660
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Nasu-Hakola Disease
Ventriculomegaly, Bone cyst, Reduced bone mineral density, Functional abnormality of the gastroin... ORPHA:2770
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Gastroesophageal reflux, Hydrocephalus ORPHA:250994
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus OMIM:312190
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Hydrocephalus, Recurrent fractures, Coronal craniosynostosis, Osteopeni... OMIM:112240
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Achondroplasia
Limited elbow extension, Limited hip extension, Hydrocephalus, Generalized joint laxity OMIM:100800
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... ORPHA:2198
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Pettigrew Syndrome
Ventriculomegaly, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Vacterl Association With Hydrocephalus
Radial club hand, Anal atresia, Hydrocephalus, Aqueductal stenosis OMIM:276950
Hydrocephalus With Associated Malformations
Intestinal malrotation, Hydrocephalus OMIM:236640
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Craniotelencephalic Dysplasia
Arrhinencephaly, Craniosynostosis, Hydrocephalus ORPHA:1528
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Gastroesophageal reflux, Hydrocephalus, Joint hypermobility OMIM:612940
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Temple Syndrome
Joint hypermobility, Flexion contracture, Cleft palate, Bifid uvula, High palate, Hydrocephalus OMIM:616222
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Joint stiffness, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Chromosome 17P13.1 Deletion Syndrome
Joint laxity, Knee flexion contracture, High palate, Elbow flexion contracture, Hydrocephalus OMIM:613776
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Flexion contracture, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Craniofacial Dyssynostosis
Craniosynostosis, Hydrocephalus ORPHA:1516
Albers-Schönberg Osteopetrosis
Hydrocephalus, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoar... ORPHA:53
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Hydrocephalus OMIM:300886
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Infantile Sialic Acid Storage Disease
High palate, Osteopenia, Hydrocephalus OMIM:269920
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Rectovaginal fistula, Anal atresia, Rectal atresia, Hydrocephalus ORPHA:3016
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Aase-Smith Syndrome I
Flexion contracture, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:147800
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus ORPHA:380
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Pyloric stenosis, Hydrocephalus OMIM:616355
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis OMIM:307000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Joint laxity, Hydrocephalus OMIM:602501
Muenke Syndrome
Tarsal synostosis, Coronal craniosynostosis, Carpal synostosis, High, narrow palate, Hydrocephalus ORPHA:53271
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus OMIM:613603
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hyperflexibility, High, narrow palate, Hydrocephalus ORPHA:2181
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus OMIM:618577
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Camptodactyly of toe, Ventriculomegaly, Joint contracture of the hand, Hydrocep... OMIM:175700
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fractu... OMIM:259700
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Triploidy
Macroglossia, Holoprosencephaly, Intestinal malrotation, Meningocele, Decreased skull ossificatio... ORPHA:3376
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Ventriculomegaly, Flexion contracture, Hydrocephalus ORPHA:272
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Macroglossia, Myelomeningocele, Hydrocephalus ORPHA:1914
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, High palate, Osteopenia, Hydrocephalus OMIM:616294
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hydrocephalus ORPHA:2183
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Increased bone mineral density ORPHA:1237
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Hydrocephalus OMIM:600991
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Midgut malrotation, Cleft palate, Osteopenia, High, narrow palate... ORPHA:2409
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Myopathy, Centronuclear, X-Linked
High palate, Flexion contracture, Pyloric stenosis, Hydrocephalus OMIM:310400
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Joint hyperflexibility, Limitation of joint m... ORPHA:93274
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Ventriculomegaly, Hydrocephalus OMIM:618476
Pycnodysostosis
Osteolysis, Narrow palate, Hydrocephalus, Recurrent fractures, Abnormal pelvis bone ossification,... ORPHA:763
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Hydrocephalus, Radioulnar synostosis ORPHA:171839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Pallister-Hall-Like Syndrome
Microglossia, Hydrocephalus, Cleft palate OMIM:241800
Thanatophoric Dysplasia
Joint hyperflexibility, Ventriculomegaly, Joint stiffness, Hydrocephalus ORPHA:2655
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Pyloric stenosis, Hydrocephalus OMIM:218350
Crouzon Disease
Multiple suture craniosynostosis, Narrow palate, Hydrocephalus ORPHA:207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Flexion contracture, Hydrocephalus ORPHA:99947
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Decreased skull ossification OMIM:300863
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Rhombencephalosynapsis
Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Anal atresia, Tracheoesophageal fist... ORPHA:59315
Lissencephaly 5
Hydrocephalus OMIM:615191
Mental Retardation, Autosomal Dominant 36
Joint hypermobility, Ventriculomegaly, Hydrocephalus OMIM:616362
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Mend Syndrome
High palate, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Central Precocious Puberty
Hydrocephalus ORPHA:759
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate ORPHA:398189
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Gastroesophageal reflux, Anal atresia, A... ORPHA:1834
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Anal atresia, Hydrocephalus OMIM:314390
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Fg Syndrome Type 1
Progressive flexion contractures, Craniosynostosis, Generalized joint laxity, Ventriculomegaly, G... ORPHA:93932
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Mental Retardation, Buenos Aires Type
High palate, Hydrocephalus OMIM:249630
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Tenorio Syndrome
Macroglossia, Ventriculomegaly, Gastroesophageal reflux, Osteopenia, Hydrocephalus OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Fanconi Anemia, Complementation Group L
Hydrocephalus, Esophageal atresia, Anal atresia, Cleft palate, Tracheoesophageal fistula OMIM:614083
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Pfeiffer Syndrome Type 2
Intestinal malrotation, Aqueductal stenosis, Anal atresia, Limitation of joint mobility, Cleft pa... ORPHA:93259
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:220210
Edinburgh Malformation Syndrome
Joint stiffness, Hydrocephalus ORPHA:1895
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Reduced bone mineral density, Hydrocephalus ORPHA:2720
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Cleft palate ORPHA:85284
3C Syndrome
Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Ectopic anus, Anal atresia, Cl... ORPHA:7
Hyperphosphatasia With Mental Retardation Syndrome 1
Delayed ossification of carpal bones, Abnormal rectum morphology, Aganglionic megacolon, Cleft pa... OMIM:239300
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Temple Syndrome
Bifid uvula, Hydrocephalus ORPHA:254516
Chiari Malformation Type Ii
Dysphagia, Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Emanuel Syndrome
Dysphagia, Ventriculomegaly, Gastroesophageal reflux, Ectopic anus, Anal atresia, Multiple joint ... ORPHA:96170
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus ORPHA:77298
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Cleft palate, Hydrocephalus ORPHA:1908
1Q44 Microdeletion Syndrome
High palate, Ventriculomegaly, Intestinal malrotation, Hydrocephalus ORPHA:238769
Nephronophthisis 18
Hydrocephalus OMIM:615862
Spondyloepimetaphyseal Dysplasia, Krakow Type
Knee flexion contracture, High palate, Elbow flexion contracture, Sclerosis of skull base, Hydroc... OMIM:618162
Methylcobalamin Deficiency Type Cble
Osteoporosis, Ventriculomegaly, Hydrocephalus ORPHA:2169
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Cleft palate, Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Desmosterolosis
Ventriculomegaly, Intestinal malrotation, Osteopetrosis, Increased bone mineral density, Cleft pa... ORPHA:35107
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Limitation of joint mobility, Joint contracture of the hand, Cleft palate, Advance... OMIM:224400
Gracile Bone Dysplasia
Ankyloglossia, Hydrocephalus, Decreased skull ossification OMIM:602361
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Spinal dysraphism, Anencepha... ORPHA:63259
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Hydrolethalus
Arrhinencephaly, Anencephaly, Cleft palate, Bifid uvula, Hydrocephalus, Submucous cleft hard palate ORPHA:2189
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Pfeiffer Syndrome
Humeroradial synostosis, Elbow ankylosis, Coronal craniosynostosis, High palate, Hydrocephalus OMIM:101600
Apert Syndrome
Humeroradial synostosis, Narrow palate, Synostosis of carpal bones, Ventriculomegaly, Esophageal ... OMIM:101200
Coach Syndrome 2
Hydrocephalus OMIM:619111
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormal cortical bone morphology OMIM:614886
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hydrocephalus ORPHA:2180
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Meckel Syndrome, Type 4
Anencephaly, Meningocele, Cleft palate, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Craniosynostosis, Narrow palate, Ventriculomegaly, Anteriorly placed anu... OMIM:123790
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Gorlin Syndrome
Vertebral fusion, Hydrocephalus ORPHA:377
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:607361
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Ventriculomegaly, Hydrocephalus, Esophageal varix OMIM:614576
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Esophageal atresia, Duodenal atresia, Tracheoesophageal fistula, Hydrocephalus OMIM:300514
Trisomy 1Q
Camptodactyly of finger, Ventriculomegaly, Anal atresia, Cleft palate, Hydrocephalus ORPHA:261344
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Anal atresia, Hydrocephalus ORPHA:3301
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
High palate, Osteopenia, Hydrocephalus, Joint hypermobility OMIM:618590
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint hyperflexibility, Ventriculomegaly, Hydrocephalus ORPHA:60040
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Camptodactyly, Gastroesophageal reflux, Intestinal malrotation, Craniofacial osteo... OMIM:300373
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Joint laxity, Intestinal malrotation, Osteolytic defects of th... OMIM:102500
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia, Hydrocephalus ORPHA:91348
Czeizel-Losonci Syndrome
Spina bifida, Spina bifida occulta, High palate, Tracheoesophageal fistula, Myelomeningocele, Hyd... ORPHA:2437
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Ventriculomegaly, Camptodactyly, High palate, Hydrocephalus OMIM:617822
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Proteus-Like Syndrome
Hyperostosis, Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Desmosterolosis
Arthrogryposis multiplex congenita, Ventriculomegaly, Generalized osteosclerosis, Joint contractu... OMIM:602398
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption, Communicating hydrocephalus ORPHA:2268
Peho Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus, Ventriculomegaly, Flexion contracture, Limitat... ORPHA:2836
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Humeroradial synostosis, Lambdoidal craniosynostosis, Camptodactyly, Flexion contracture, Coronal... OMIM:207410
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Hydrocephalus OMIM:259720
Griscelli Syndrome
Pyloric stenosis, Hydrocephalus ORPHA:381
Williams-Beuren Region Duplication Syndrome
High palate, Ventriculomegaly, Hydrocephalus OMIM:609757
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Carpal synostosis, Increa... ORPHA:90652
Hemangioblastoma
Hydrocephalus ORPHA:252054
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Apert Syndrome
Narrow palate, Ventriculomegaly, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula, Cer... ORPHA:87
Lenz-Majewski Hyperostotic Dwarfism
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... ORPHA:2658
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Camptodactyly, Pyloric stenosis, Intestinal malrotation, Anal atres... OMIM:305450
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation OMIM:614424
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Camptodactyly, Gastroesophage... OMIM:182212
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Knee flexion contracture OMIM:603387
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Communicating hydrocephalus ORPHA:1064
Arachnoiditis
Hydrocephalus ORPHA:137817
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis, Anal atresia, Tracheoesop... ORPHA:3412
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Cleft palate ORPHA:1926
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Narrow palate, Cleft palate, Anteriorly placed anus, Hydrocephalus ORPHA:1555
Mirage Syndrome
Radial club hand, Gastroesophageal reflux, Achalasia, Esophageal stricture, Hydrocephalus OMIM:617053
Arnold-Chiari Malformation Type Ii
Dysphagia, Ventriculomegaly, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydrocephalus ORPHA:1136
Whipple Disease
Malabsorption, Hydrocephalus, Gastrointestinal hemorrhage, Arthritis ORPHA:3452
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Hyperextensibility of the finger joints, High palate, High, narrow palate, Hydr... OMIM:616914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Hydrocephalus OMIM:615249
H Syndrome
Osteolysis, Camptodactyly, Recurrent fractures, Malabsorption, Hydrocephalus ORPHA:168569
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Hydrocephalus OMIM:616482
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, C... ORPHA:1780
Mucopolysaccharidosis, Type Ii
Macroglossia, Flexion contracture, Hydrocephalus, Intestinal pseudo-obstruction OMIM:309900
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Microglossia, Hydranencephaly, Cleft palate, Hydrocephalus ORPHA:2839
Distal Tetrasomy 15Q
Craniosynostosis, Camptodactyly, Flexion contracture, High palate, Hydrocephalus, Dandy-Walker ma... ORPHA:314588
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Hydrocephalus, Cleft palate ORPHA:220497
Cousin Syndrome
Camptodactyly, Microglossia, Hydranencephaly, Wrist flexion contracture, Joint contracture of the... OMIM:260660
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... OMIM:245600
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Perineal fistula, Sagittal craniosynostosis, Coronal craniosynostosi... OMIM:218600
16P13.2 Microdeletion Syndrome
Ventriculomegaly, Gastroesophageal reflux, Flexion contracture, Dilated third ventricle, Hydrocep... ORPHA:500055
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Anal stenosis OMIM:601499
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Anal atresia, High palate, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Joint stiffness, Hydrocephalus ORPHA:1860
Campomelic Dysplasia
Absent sternal ossification, Poorly ossified cervical vertebrae, Hydrocephalus, Cleft palate OMIM:114290
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Hydrocephalus ORPHA:1666
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Trisomy 17P
Macroglossia, Flexion contracture, Cleft palate, High palate, Hydrocephalus ORPHA:261290
Scleroderma
Abnormal stomach morphology, Osteomyelitis, Intestinal bleeding, Abnormality of the gastrointesti... ORPHA:801
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Hydrocephalus ORPHA:2318
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Walker-Warburg Syndrome
Ventriculomegaly, Cleft palate, Bifid uvula, Hydrocephalus, Dandy-Walker malformation, Submucous ... ORPHA:899
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Protruding tongue, Cleft pala... OMIM:259775
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Gaucher Disease
Osteomyelitis, Osteolysis, Arthrogryposis multiplex congenita, Dysphagia, Ventriculomegaly, Recur... ORPHA:355
Joubert Syndrome
Aganglionic megacolon, Hydrocephalus ORPHA:475
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Ventriculomegaly, Gastroesopha... ORPHA:2462
Sturge-Weber Syndrome
Hyperostosis, Dysphagia, Hydrocephalus ORPHA:3205
Achondroplasia
Limited elbow extension, Knee joint hypermobility, Hydrocephalus, Hip joint hypermobility ORPHA:15
Systemic Sclerosis
Abnormal stomach morphology, Osteomyelitis, Intestinal bleeding, Abnormality of the gastrointesti... ORPHA:90291
Hurler Syndrome
Calvarial hyperostosis, Flexion contracture, Joint stiffness, Hydrocephalus OMIM:607014
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Hydrocephalus, Cleft palate ORPHA:220493
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Limitation of joint mobility, Hydrocephalus, Cleft palate ORPHA:1865
15Q Overgrowth Syndrome
Joint hypermobility, Contracture of the proximal interphalangeal joint of the 2nd finger, Cranios... ORPHA:314585
Stromme Syndrome
Intestinal malrotation, Jejunal atresia, Duodenal atresia, Cleft palate, Hydrocephalus OMIM:243605
Cerebrooculonasal Syndrome
Craniosynostosis, Narrow palate, Cleft palate, High palate, Hydrocephalus OMIM:605627
Adams-Oliver Syndrome
Esophageal varix, Hydrocephalus, Gastrointestinal hemorrhage ORPHA:974
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Epiphyseal stippling, Hydrocephalus, Neonatal epiphyseal stippling OMIM:101800
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Spina bifida, Vertebral fusion, Hamartomatous stomach polyp... OMIM:109400
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Joint hyperflexibility, Intestinal malrotation, Recurrent fractures, Co... ORPHA:955
Dubowitz Syndrome
Craniosynostosis, Anal stenosis, Joint hyperflexibility, Rectal prolapse, Spina bifida occulta, H... ORPHA:235
Popov-Chang syndrome
Gastroesophageal reflux, Hydrocephalus OMIM:618428
Primary Ciliary Dyskinesia
Ventriculomegaly, Intestinal malrotation, Hydrocephalus ORPHA:244
Mucopolysaccharidosis Type 3
Macroglossia, Craniofacial hyperostosis, Dysphagia, Ventriculomegaly, Flexion contracture, Reduce... ORPHA:581
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Anal atresia, Median cleft lip and palate, Hydrocephalus OMIM:264480
Joubert Syndrome 2
High palate, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Alexander Disease
Dysphagia, Aqueductal stenosis, High palate, Osteopenia, Hydrocephalus ORPHA:58
Cardiofaciocutaneous Syndrome 1
Gastroesophageal reflux, Hyperextensibility of the finger joints, High palate, Osteopenia, Hydroc... OMIM:115150
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus, Cleft palate OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Ventriculomegaly, Congenital contracture, Cleft palate, Hydrocephalus OMIM:613150
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Genitopalatocardiac Syndrome
Hydrocephalus, Cleft palate ORPHA:2075
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Multiple Sulfatase Deficiency
Joint stiffness, Hydrocephalus ORPHA:585
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Radioulnar synostosis, Aganglionic megacolon, Aqueductal stenosis, Cleft... OMIM:154400
Mohr Syndrome
Tongue nodules, Bifid tongue, Lobulated tongue, Cleft palate, High palate, Hydrocephalus OMIM:252100
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus, Cleft palate ORPHA:1812
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... ORPHA:536467
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Dysphagia, Ventriculomegaly, Flexion contracture, Recurrent fr... ORPHA:666
Cole-Carpenter Syndrome
Joint hyperflexibility, Recurrent fractures, Communicating hydrocephalus ORPHA:2050
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Congenital Sialidosis Type 2
Protruding tongue, Hydrocephalus ORPHA:93400
Mucopolysaccharidosis, Type Vii
Flexion contracture, Hydrocephalus OMIM:253220
Mucopolysaccharidosis Type 1
Malabsorption, Joint stiffness, Hydrocephalus ORPHA:579
Fanconi Anemia
Meckel diverticulum, Spina bifida, Aplasia/Hypoplasia of the uvula, Ventriculomegaly, Aganglionic... ORPHA:84
Laurin-Sandrow Syndrome
Limitation of joint mobility, Tarsal synostosis, Hydrocephalus ORPHA:2378
Aymé-Gripp Syndrome
Craniosynostosis, Radioulnar synostosis, Ventriculomegaly, Camptodactyly, Limitation of joint mob... ORPHA:1272
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Limited elbow extension, Humeroradial synostosis, Craniosynostosis, Tarsal synostosis, Radioulnar... ORPHA:95699
Mucopolysaccharidosis, Type Vi
Macroglossia, Joint stiffness, Hydrocephalus OMIM:253200
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Sclerosis of skull base, Hydrocephalus, Cleft palate OMIM:304120
Alpha-Mannosidosis, Infantile Form
Macroglossia, Osteolysis, Craniosynostosis, Joint laxity, Recurrent gastroenteritis, Cortical thi... ORPHA:309282
Medulloblastoma
Adenomatous colonic polyposis, Hydrocephalus ORPHA:616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Congenital contracture, Anal atresia, Cleft palate, Hydrocephalus, Dandy-Walker... OMIM:236670
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Joint laxity, Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Knobloch Syndrome
Joint hyperflexibility, Pyloric stenosis, Hydrocephalus ORPHA:1571
Coccidioidomycosis
Osteomyelitis, Osteolysis, CSF lymphocytic pleiocytosis, Increased CSF protein, CSF pleocytosis, ... ORPHA:228123
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Radioulnar synostosis, Joint stiffne... ORPHA:2461
Linear Skin Defects With Multiple Congenital Anomalies 1
Anteriorly placed anus, Anal atresia, Colpocephaly, Hydrocephalus OMIM:309801
7Q11.23 Microduplication Syndrome
Joint hypermobility, Craniosynostosis, Ventriculomegaly, High palate, Hydrocephalus ORPHA:96121
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Intestinal malrotation, Anal atresia, Cleft palate, Hydrocephalus ORPHA:2166
Jacobsen Syndrome
Holoprosencephaly, Flexion contracture, Pyloric stenosis, Hydrocephalus OMIM:147791
Oeis Complex
Duplicated colon, Intestinal malrotation, Anteriorly placed anus, Rectovaginal fistula, Anal atre... OMIM:258040
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Cleft palate ORPHA:1335
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Holoprosencephaly, Hamartoma of tongue, Intestinal malrotation, Anen... OMIM:269860
Holoprosencephaly
Median cleft lip and palate, Hydrocephalus, Holoprosencephaly, Joint hyperflexibility, Spinal dys... ORPHA:2162
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
Glutaryl-Coa Dehydrogenase Deficiency
Dysphagia, Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Tetrasomy 5P
High palate, Hydrocephalus ORPHA:3309
Holoprosencephaly 7
Semilobar holoprosencephaly, Median cleft lip and palate, Bilateral cleft lip and palate, Alobar ... OMIM:610828
Hypoplasminogenemia
Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Epiphyseal stippling, Holoprosencephaly, Gastroesophageal reflux, I... OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Flexion contracture, Hydrocephalus OMIM:253800
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
High palate, Ventriculomegaly, Joint laxity, Hydrocephalus OMIM:617011
Orofaciodigital Syndrome I
Tongue nodules, Bifid tongue, Lobulated tongue, Cleft palate, High palate, Myelomeningocele, Hydr... OMIM:311200
22Q11.2 Deletion Syndrome
Spina bifida, Gastrointestinal hemorrhage, Arrhinencephaly, Joint hyperflexibility, Gastroesophag... ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Cleft palate OMIM:616546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Recurrent gastroenteritis, Flexion contracture, Joint stiffness, Hydrocephalus ORPHA:505248
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Osteolysis, Bone cyst, Flexion contracture, Hip contracture, Hydrocephalus ORPHA:3042
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Hydrocephalus OMIM:104350
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Functional abnormality of the gastrointestinal tract, ... ORPHA:1340
Cryptococcosis
Osteomyelitis, Osteolysis, Hydrocephalus ORPHA:1546
Trisomy 8P
Malrotation of small bowel, Multiple joint contractures, Cleft palate, Bifid uvula, Hydrocephalus... ORPHA:264450
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bone mineral density, Hydrocephalus ORPHA:667
Isotretinoin-Like Syndrome
Gastroesophageal reflux, Hydrocephalus, Cleft palate ORPHA:2306
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Hurler Syndrome
Camptodactyly of finger, Macroglossia, Limitation of joint mobility, Hydrocephalus ORPHA:93473
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, High, narrow palate, Hydrocephalus ORPHA:228308
Loeys-Dietz Syndrome 1
Craniosynostosis, Joint laxity, Camptodactyly, Cleft palate, Bifid uvula, Hydrocephalus, Eosinoph... OMIM:609192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Pseudoaminopterin Syndrome
Patchy reduction of bone mineral density, Synostosis of carpal bones, Limited elbow movement, Sag... ORPHA:221120
Monosomy 9Q22.3
Joint hyperflexibility, Ventriculomegaly, Hydrocephalus ORPHA:77301
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Hydrocephalus ORPHA:268249
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Joint hyperflexibility, Hydrocephalus ORPHA:250989
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:257300
Monosomy 18Q
High palate, Hydrocephalus, Joint hypermobility ORPHA:1600
Microphthalmia With Limb Anomalies
Tarsal synostosis, Synostosis of carpal bones, Synostosis of joints, Arrhinencephaly, Joint hyper... ORPHA:1106
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Macroglossia, Camptodactyly of toe, Anal atresia, High palate, Hydroceph... ORPHA:261337
Meckel Syndrome, Type 1
Intestinal malrotation, Anencephaly, Anal atresia, Lobulated tongue, Cleft palate, Hydrocephalus,... OMIM:249000
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus OMIM:227646
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Ventriculomegaly, Hydrocephalus ORPHA:457284
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Anencephaly, Furrowed tongue, Lobar holoprosencephaly, Cleft pa... ORPHA:564
Kabuki Syndrome
Joint hyperflexibility, Ventriculomegaly, Cleft palate, High palate, Hydrocephalus ORPHA:2322
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Arthrogryposis multiplex congenita, Elbow ankylosis, Cleft palate, High ... OMIM:208150
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Semilobar Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Dysphagia, Gastroesophageal reflux, Flex... ORPHA:220386
Alobar Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Dysphagia, Gastroesophageal reflux, Flex... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Dysphagia, Gastroesophageal reflux, Flex... ORPHA:93926
Lobar Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Dysphagia, Gastroesophageal reflux, Flex... ORPHA:93924
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Limb Body Wall Complex
Spina bifida, Anencephaly, Spina bifida occulta, Cleft palate, Abnormal intestine morphology, Mye... ORPHA:2369
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Joint hyperflexibility, Intestinal polyposis, Abnormal large intestine morphology,... ORPHA:109
Facial Dysmorphism With Multiple Malformations
Rectovaginal fistula, Anal atresia, Hydrocephalus OMIM:227255
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Loeys-Dietz Syndrome 2
Osteoporosis, Craniosynostosis, Joint laxity, Camptodactyly, Joint contracture of the hand, Cleft... OMIM:610168
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Flexion contracture, Intestinal malrotation, Hydrocephalus OMIM:619321
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hydrocephalus, Cleft palate ORPHA:163979
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Craniopharyngioma
Increased susceptibility to fractures, Hydrocephalus ORPHA:54595
Hemifacial Microsomia
Block vertebrae, Hydrocephalus, Cleft palate OMIM:164210
Koolen-De Vries Syndrome Due To A Point Mutation
Joint hypermobility, Spina bifida, Craniosynostosis, Joint laxity, Ventriculomegaly, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint hypermobility, Spina bifida, Craniosynostosis, Joint laxity, Ventriculomegaly, Hydrocephalus ORPHA:363958
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Mucopolysaccharidosis Type 2
Macroglossia, Hip osteoarthritis, Flexion contracture of digit, Limitation of joint mobility, Abn... ORPHA:580
Costello Syndrome
Macroglossia, Ventriculomegaly, Achilles tendon contracture, Limited elbow movement, High palate,... OMIM:218040
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Radioulnar synostosis, Abnormal sternal ossification, Ventriculomegal... OMIM:194190
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Hydrocephalus ORPHA:79282
Mend Syndrome
High palate, Hydrocephalus, Dandy-Walker malformation, Cleft palate ORPHA:401973
Fontaine Progeroid Syndrome
Craniosynostosis, Gastroesophageal reflux, Protruding tongue, Coronal craniosynostosis, High, nar... OMIM:612289
Tetraamelia Syndrome 1
Anal atresia, Hydrocephalus, Cleft palate OMIM:273395
Cockayne Syndrome B
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Limitation of joint mobility, Normal ... OMIM:133540
Yunis-Varon Syndrome
Arrhinencephaly, Glossoptosis, Decreased skull ossification, Absent sternal ossification, High, n... ORPHA:3472
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Joint laxity, Ventriculomegaly, High palate, Limitation of joint mob... ORPHA:457359
Holoprosencephaly 9
Holoprosencephaly, Bilateral cleft lip and palate, Cleft palate, Short hard palate, Hydrocephalus OMIM:610829
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Gastric ulcer, Hydrocephalus, Esophageal varix ORPHA:2072
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Neoplasm of the liver ORPHA:1454
Focal Dermal Hypoplasia
Hiatus hernia, Myelomeningocele, Joint laxity, Intestinal malrotation, Spina bifida occulta, Clef... OMIM:305600
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of the anus, Abnormal rectum morphology, Hydrocephalus ORPHA:2556
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Fraser Syndrome 1
Abnormality of the small intestine, Cleft palate, Abnormality of the anus, Myelomeningocele, Hydr... OMIM:219000
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Histiocytoid Cardiomyopathy
Hydrocephalus, Cleft palate ORPHA:137675
Cockayne Syndrome A
Ivory epiphyses of the phalanges of the hand, Limitation of joint mobility, Normal pressure hydro... OMIM:216400
Neurofibromatosis Type 1
Recurrent fractures, Neoplasm of the gastrointestinal tract, Joint stiffness, Hydrocephalus ORPHA:636
Lymphangioleiomyomatosis
Hydrocephalus, Gastrointestinal hemorrhage ORPHA:538
Neurofibromatosis Type 2
Dysphagia, Hydrocephalus ORPHA:637
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Macroglossia, Two carpal ossification centers present at birth, Intestinal m... OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
High palate, Bone cyst, Hydrocephalus, Joint hypermobility ORPHA:363700
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:264090
Meningioma
Hydrocephalus, Neoplasm of the tongue ORPHA:2495
Exstrophy-Epispadias Complex
Spina bifida, Anal stenosis, Abnormality of the gastrointestinal tract, Anal atresia, Hydrocephalus ORPHA:322
Peters-Plus Syndrome
Craniosynostosis, Joint laxity, Ventriculomegaly, Limited elbow movement, Cleft palate, Anteriorl... OMIM:261540
Tetrasomy 9P