Gene Summary

Name:
integrin beta 8
Synonyms:
4832412O06Rik

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
preweaning lethality, complete penetrance Itgb8tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Itgb8tm1b(KOMP)Wtsi HOM   E12.5 0.00
abnormal skin coloration Itgb8tm1b(KOMP)Wtsi HET Early adult 1.99×10-06
abnormal retina outer nuclear layer morphology Itgb8tm1b(KOMP)Wtsi HET   Early adult 4.67×10-05

Download data as:  TSV  XLS

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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
Bone  Wholemount images heterozygote Ambiguous
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 100% (2 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 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

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 Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of left eye

13 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right fundus

13 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left fundus

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

13 Images

Adult LacZ

LacZ Images Wholemount

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Itgb8 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itgb8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy OMIM:300719
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Hydrocephalus, Cer... ORPHA:97339
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Long philtrum, Corona... ORPHA:280679
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, L... OMIM:617397
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,... OMIM:614424
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus, Short philtrum, Abnormal oral cavity morphology, Umbilic... ORPHA:1516
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Hydrocephalus, Patent ductus arteriosus, Alveolar r... OMIM:612938
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle morphol... OMIM:300845
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition ORPHA:1008
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip ORPHA:398189
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate ORPHA:945
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus OMIM:166990
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, High, narrow palate, Hydrocephalus, Umbilical hernia ORPHA:2181
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Non-midline clef... ORPHA:1908
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... ORPHA:99828
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate ORPHA:217
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morpholog... ORPHA:83473
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hydrocephalus, Gingival overgrowth, Hydrops fetalis, High... OMIM:269920
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteri... ORPHA:774
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... OMIM:609637
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Stomatitis, Intrauterine gr... ORPHA:79284
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Tented upper lip vermilion, Dental crowding, Ventricular septal defect... OMIM:612582
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... OMIM:612863
Fried Syndrome
Hydrocephalus, High palate, Short philtrum ORPHA:85335
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus OMIM:300884
Triploidy
Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft ... ORPHA:3376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Cardiomegaly, Dilated cardiomyopathy, Narrow palate, High palate, Arrhythmia, A... OMIM:608836
Thanatophoric Dysplasia Type 2
Encephalocele, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Patent ductus arteri... ORPHA:93274
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft ORPHA:324416
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... ORPHA:2476
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... ORPHA:98878
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Double outlet right ventricl... OMIM:220210
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation, Ven... OMIM:617967
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology OMIM:175700
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... ORPHA:60041
Congenital Sialidosis Type 2
Abnormal EKG, Edema, Protruding tongue, Hydrocephalus, Cherry red spot of the macula, Gingival ov... ORPHA:93400
Osteogenesis Imperfecta
Abnormality of dental color, Abnormal dental enamel morphology, Umbilical hernia, Delayed eruptio... ORPHA:666
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Hydrocephalus, Thin vermilion border, Long philtrum, Umbilical hernia ORPHA:171839
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Patent ductus arteriosus, Aortic va... OMIM:220220
Diabetic Embryopathy
Ventricular septal defect, Hydrocephalus, Cleft palate, Spinal dysraphism, Abnormal aortic morpho... ORPHA:1926
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal flui... OMIM:618291
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Emanuel Syndrome
Ventriculomegaly, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Tru... OMIM:609029
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Trisomy 17P
Hydrocephalus, Patent ductus arteriosus, Orofacial cleft, Cleft palate, Wide mouth, Macroglossia,... ORPHA:261290
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Macroglossia, Hydrocephalus, Cardiomyopathy OMIM:613155
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Hydrocephalus OMIM:129850
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hydrocephalus, Abnormal heart morphology, Everted lower lip vermilion, Short philt... OMIM:601499
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Thin vermilion border, Pu... ORPHA:2701
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate OMIM:614120
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Emanuel Syndrome
Dental crowding, High palate, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Paten... ORPHA:96170
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Congenital Toxoplasmosis
Cardiomegaly, Hydrocephalus, Intrauterine growth retardation, Ascites, Ventriculomegaly ORPHA:858
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Polyhydramnios, Intraventricular hemorrhage, Hydrocephalus, Short philtrum... OMIM:613603
Lateral Meningocele Syndrome
Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningocele, Pa... OMIM:130720
Gómez-López-Hernández Syndrome
Hydrocephalus, Thin vermilion border ORPHA:1532
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hydrocephalus, Mitral valve prolapse ORPHA:2183
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Fetal Gaucher Disease
Hydrops fetalis, Intracranial hemorrhage, Stillbirth, High palate, Neonatal death ORPHA:85212
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus ORPHA:380
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal dental morphology, Bicuspid aortic valve, Spina bifida, Ventricular septal defect, Intra... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal dental morphology, Bicuspid aortic valve, Spina bifida, Ventricular septal defect, Intra... ORPHA:363958
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal palate morphology ORPHA:251046
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
3C Syndrome
Dandy-Walker malformation, Ventriculomegaly, Ventricular septal defect, Intestinal malrotation, A... ORPHA:7
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Microglossia OMIM:241800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip,... ORPHA:1335
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Tetrasomy 15Q26
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Atrial septal defe... OMIM:614846
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Fg Syndrome Type 1
Ventriculomegaly, Dental crowding, Abnormal large intestine morphology, Malrotation of colon, Pyl... ORPHA:93932
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Atrial se... ORPHA:2655
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, ... OMIM:239850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Smooth philtrum OMIM:602501
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Polyhydramnios, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:363705
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Cleft palate OMIM:613885
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Ventriculom... OMIM:218350
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, Tongue nodules, Glossoptosis, High palate... OMIM:311900
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Transpositio... OMIM:313850
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Cle... ORPHA:163979
Hydrolethalus
Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival c... ORPHA:2189
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Increased CSF lactate, Prolonged prothrombin time, Neonatal death, I... OMIM:619055
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
High palate, Chylothorax, Cerebral hemorrhage, Subdural hemorrhage OMIM:620278
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbilical hernia OMIM:104350
Vitamin K Antagonist Embryofetopathy
Macroglossia, Myelomeningocele, Hydrocephalus, Intrauterine growth retardation ORPHA:1914
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Ventriculomegaly, Smooth philtrum, Long philtrum OMIM:616430
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Conges... OMIM:309900
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... OMIM:269860
Williams-Beuren Region Duplication Syndrome
Diastema, Hydrocephalus, Patent ductus arteriosus, High palate, Short philtrum, Ventriculomegaly OMIM:609757
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Peau d'orange, Ventricular septal defect, Hydrocephalus, Patent ductus arterio... OMIM:614576
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Cleft palate, Hydranencephaly, Intrauterine grow... OMIM:225790
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Trisomy 1Q
Ventriculomegaly, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Increased nuchal tran... ORPHA:261344
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Macroglossia, Cardiomyopathy, V... ORPHA:370959
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Mirage Syndrome
Esophageal stricture, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Intrauter... OMIM:617053
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Hydrocephalus, Abnormal cardiac ventricle morphology, Patent ductus arteri... ORPHA:2306
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... ORPHA:2437
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion OMIM:300558
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Kleeblattschaedel
Hydrocephalus OMIM:148800
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation OMIM:147800
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia OMIM:276950
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly OMIM:304100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Hypertension,... ORPHA:1555
Temple Syndrome
Hydrocephalus, Cleft palate, High palate, Short philtrum, Intrauterine growth retardation, Bifid ... OMIM:616222
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, High, narrow palate, Pyloric stenosis, Talon cusp, Midgut malr... ORPHA:2409
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... ORPHA:163596
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... OMIM:616034
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Polyhydramnios, Hydrocephalus, Cleft palate, Orofacial cle... ORPHA:2166
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Orofacial cleft ORPHA:220493
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Myelo... OMIM:311200
1Q44 Microdeletion Syndrome
Ventriculomegaly, Exaggerated cupid's bow, Intestinal malrotation, Hydrocephalus, Thin vermilion ... ORPHA:238769
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Trans... OMIM:314390
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymphe... ORPHA:137667
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, ... ORPHA:79282
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Hydrops fetalis, Cleft palate, Abnormal heart morphology, Narrow mouth ORPHA:1865
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth, Polyhydramnios, Abnormality of the dentition OMIM:241500
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Diencephalic Syndrome
Hydrocephalus, Everted lower lip vermilion ORPHA:1672
Hurler Syndrome
Aortic regurgitation, Hydrocephalus, Gingival overgrowth, Macroglossia, Cardiomyopathy, Mitral re... OMIM:607014
Distal Triplication 15Q
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, High... ORPHA:314588
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Opitz-Kaveggia Syndrome
Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric stenosis, Hydroc... OMIM:305450
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheoes... OMIM:300514
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... ORPHA:398124
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... OMIM:235510
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Cleft palate, Neonatal death, Intrauterine growth retardation ORPHA:85284
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage, Conical tooth OMIM:301081
Aspergillosis
Eosinophilia, Intracranial hemorrhage, Stroke, Pleural effusion, Abnormal esophagus morphology ORPHA:1163
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Polyhydramnios, Cleft upper ... OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cleft palate, Widely spaced teeth, Atrial septal defect, Aortic valve stenosis, Da... ORPHA:459061
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Polyhydramnios, Deep philtrum, Hydrocephalus... OMIM:619833
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Hyd... OMIM:239300
Meningioma
Hydrocephalus, Syncope, Neoplasm of the tongue, Cerebral hemorrhage ORPHA:2495
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Broad philtrum, Long philtrum OMIM:618577
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Dandy-Walker malformation, Cleft upper lip, Patent duc... OMIM:249000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Orofacial cleft OMIM:615630
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheoes... ORPHA:77298
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:606054
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Genitopalatocardiac Syndrome
Non-midline cleft lip, Hydrocephalus, Cleft palate, Downturned corners of mouth, Abnormal cardiac... ORPHA:2075
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalu... ORPHA:2369
Desmosterolosis
Intestinal malrotation, Hydrocephalus, Submucous cleft hard palate, Patent ductus arteriosus, Cle... ORPHA:35107
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defe... OMIM:603387
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Hydrocephalus, Gingival overgrowth, Hydrops fetalis, Macroglossi... OMIM:253220
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Vascular dilatation, Arterial s... ORPHA:565
Primary Ciliary Dyskinesia
Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Inte... ORPHA:244
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hydrocephalus, Orofacial cleft ORPHA:475
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Tricuspid regurgitation, Carious teeth, Hydrocephalus, Macroglossia, C... OMIM:253200
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops... OMIM:616546
Griscelli Syndrome
Encephalocele, Pyloric stenosis, Hydrocephalus, Pedal edema, Ascites ORPHA:381
Metatropic Dysplasia
Hydrocephalus, Cleft palate ORPHA:2635
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Lymphedema ORPHA:3226
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Pierre-Robin sequence, Hydrocep... ORPHA:90652
Hutchinson-Gilford Progeria Syndrome
Short lingual frenulum, Dental crowding, Myocardial infarction, Intracranial hemorrhage, High pal... ORPHA:740
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Hydroceph... ORPHA:261337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... OMIM:253800
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Hyperte... OMIM:616914
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hydrocephalus, Cardiac fibroma, Or... ORPHA:77301
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, Everted lower lip vermilion, High palate, Short... OMIM:613776
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Atrial se... ORPHA:1860
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Thin upper lip vermilion, Increased nuchal translucency, Fetal intraventricular hemorrhage, High ... OMIM:618480
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, High palate, Pleural effusion, Dand... OMIM:617822
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueduct... OMIM:619895
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Vascular dilata... OMIM:277175
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... OMIM:115470
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... OMIM:620156
B4Galt1-Cdg
Abnormal bleeding, Thin upper lip vermilion, Edema, Hydrocephalus, Long philtrum, Dandy-Walker ma... ORPHA:79332
Temple Syndrome
Hydrocephalus, Bifid uvula ORPHA:254516
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Abnormal d... ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus OMIM:616521
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Meckel diverticulum, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Holoprosencephaly
Encephalocele, Dandy-Walker malformation, Median cleft lip, Ventricular septal defect, Bilateral ... ORPHA:2162
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft ORPHA:220497
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interru... ORPHA:250989
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Lymphedema, Narrow pa... ORPHA:109
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Microglossia, Cleft palate, Hydranencephaly, Thick anterior alveolar... ORPHA:2839
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Pyloric stenosis, Hydrocephalus, Dental malocclusion, High palate, Dandy-Walker m... OMIM:310400
Dextrocardia
Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnorm... ORPHA:1666
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Atrial septal defect, Ventricular septal defect, Pyloric stenosis,... OMIM:602535
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Wide mouth, Cerebral ischemia, Arteriovenous malformat... ORPHA:60040
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Cleft palate OMIM:243440
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Hajdu-Cheney Syndrome
Mitral stenosis, Intestinal malrotation, Ventricular septal defect, Abnormality of the dentition,... ORPHA:955
Fanconi Anemia
High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of the uvula, Patent ductus a... ORPHA:84
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Fetal Akinesia Deformation Sequence 1
Nonimmune hydrops fetalis, Polyhydramnios, High, narrow palate, Narrow mouth, Hydrocephalus, Incr... OMIM:208150
Edinburgh Malformation Syndrome
Downturned corners of mouth, Hydrocephalus, Thin vermilion border, Narrow mouth ORPHA:1895
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Hydrocephalus, Patent ductus arteriosus, Denta... OMIM:102500
Fontaine Progeroid Syndrome
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de... OMIM:612289
Icf Syndrome
Communicating hydrocephalus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Houge-Janssens Syndrome 1
Pyloric stenosis, Hydrocephalus, Intrauterine growth retardation, Open mouth, Ventriculomegaly OMIM:616355
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... ORPHA:464329
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Malabsorption, Congestive heart failure, Hydrocephalus, Thick lo... ORPHA:579
Desmosterolosis
Hydrocephalus, Patent ductus arteriosus, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft ... OMIM:602398
Coach Syndrome 2
Hypertension, Hydrocephalus OMIM:619111
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia ORPHA:2119
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Dental malocclusion, Narrow palate, Mitral valve prolapse, High palate, Umbilical ... OMIM:182212
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Hydrocephalus, Narrow palate, Cleft palate, Downturned corners o... OMIM:605627
Tetrasomy 9P
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Intrauterine growth re... ORPHA:3310
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... OMIM:232300
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Hydrocephalus, High palate, Long philtrum, Intrauterine growth retar... OMIM:612940
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Alobar holoprosencephaly, Hydrocep... OMIM:610828
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Polyhydramnios, Endocardial fibroelastosis OMIM:600559
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Dee... OMIM:619951
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Patent ductus arte... ORPHA:505248
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Myocarditis, Hyd... ORPHA:3452
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage, Eosinophilia, Eosinophilic infiltration of the esop... OMIM:243700
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Abnormal eosinophil morphology, Epi... ORPHA:906
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Oligohydramnios, Cleft palate, Pulmonic stenosis, Long philtrum,... OMIM:257300
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary embolism, Raynaud... ORPHA:3260
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Patent ductus arteriosus, High palate, Atrial septal defect, Bruising susceptibility OMIM:618162
Classic Homocystinuria
Gastrointestinal hemorrhage, Dental crowding, Pulmonary embolism, Esophageal varix, Intracranial ... ORPHA:394
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Dental crowding, Polyhydramnios, Normal pressure hydrocephalus, High pal... OMIM:620351
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... ORPHA:324636
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, High palate, Abnormal dental enamel morphology ORPHA:2180
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Wide mouth, Macroglossia, Syncope, Recurrent aphthous stomatit... OMIM:616260
Crouzon Syndrome
Hydrocephalus, Narrow palate ORPHA:207
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Orofac... ORPHA:63259
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Cleft palate OMIM:224400
Hogue-Janssen Syndrome 2
Open mouth, Tented upper lip vermilion, Hydrocephalus, Ventriculomegaly OMIM:616362
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Abnormal palate morphology ORPHA:93262
Loeys-Dietz Syndrome 1