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Gene: Itgb8 MGI:1338035

Gene Summary

Name:

integrin beta 8

Synonyms:

4832412O06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
embryonic lethality prior to tooth bud stage	Itgb8^{tm1b(KOMP)Wtsi}	HOM	E12.5	0.00
abnormal skin coloration	Itgb8^{tm1b(KOMP)Wtsi}	HET	Early adult	1.99×10^-06
abnormal retina outer nuclear layer morphology	Itgb8^{tm1b(KOMP)Wtsi}	HET	Early adult	4.67×10^-05
preweaning lethality, complete penetrance	Itgb8^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00

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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
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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
mesenteric lymph node	0.31% (1 of 323)
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
trigeminal v nerve	0.0%
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vas deferens	4.56% (18 of 395)
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	1.67% (1 of 60)
axial skeleton	1.56% (1 of 64)
brain	1.17% (6 of 511)
central nervous system ganglion	1.37% (1 of 73)
cranium	1.56% (1 of 64)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
external ear	1.35% (1 of 74)
eye	0.2% (1 of 511)
femur pre-cartilage condensation	1.82% (1 of 55)
footplate	0.2% (1 of 511)
forearm	0.33% (1 of 305)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
gut	1.69% (1 of 59)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
head mesenchyme	1.67% (1 of 60)
heart	0.2% (1 of 511)
heart ventricle	1.67% (1 of 60)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
humerus pre-cartilage condensation	1.56% (1 of 64)
inner ear	1.56% (1 of 64)
intestine	1.72% (1 of 58)
liver	0.2% (1 of 506)
lower leg	0.33% (1 of 305)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
mesonephros of female	1.82% (1 of 55)
mesonephros of male	1.82% (1 of 55)
metanephros	1.82% (1 of 55)
midbrain	0.2% (1 of 511)
nasal septum	1.67% (1 of 60)
nose	1.28% (1 of 78)
notochord	1.67% (1 of 60)
oral cavity	0.2% (1 of 506)
outflow tract	1.67% (1 of 60)
pancreas	1.82% (1 of 55)
pericardium	1.82% (1 of 55)
pharynx	1.79% (1 of 56)
radius-ulna pre cartilage condensation	1.56% (1 of 64)
rib pre-cartilage condensation	1.75% (1 of 57)
skeleton	1.28% (1 of 78)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
stomach	1.82% (1 of 55)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)
thoracic vertebral cartilage condensation	1.82% (1 of 55)
tongue	1.82% (1 of 55)
trachea	1.69% (1 of 59)
trunk mesenchyme	1.67% (1 of 60)
umbilical artery embryonic part	1.67% (1 of 60)
umbilical vein embryonic part	1.67% (1 of 60)
upper arm	0.33% (1 of 305)
upper leg	0.33% (1 of 305)
urinary system	1.69% (1 of 59)
vibrissa	1.35% (1 of 74)

13 Images

View images

Adult LacZ

LacZ Images Wholemount

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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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.

Human diseases associated with Itgb8 (0 diseases)
Human diseases predicted to be associated with Itgb8 (640 diseases)

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	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	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin...	OMIM:609192
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Pericardial effusion, Narrow mouth, Hydrocephalus, Patent...	ORPHA:1272
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Atrial septal defect, Neonatal dea...	OMIM:265380
Tempi Syndrome	Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia	ORPHA:284227
Tetrasomy 5P	Congestive heart failure, Hydrocephalus, Heart murmur, High palate, Long philtrum, Pulmonary arte...	ORPHA:3309
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, High, narrow palate, Mitral valve prolapse, Mitral regurgitation, Ab...	ORPHA:2462
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage, Dentinogenesis imperfecta	OMIM:616507
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s...	OMIM:109400
Neu-Laxova Syndrome 1	Ventriculomegaly, Ventricular septal defect, Spina bifida, Cleft upper lip, Swollen lip, Polyhydr...	OMIM:256520
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly	OMIM:613150
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala...	OMIM:115150
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Heart block, High, narrow palate, Hydrocephalus, Cardiomyopathy, Abnormal myocardiu...	ORPHA:228308
Peho Syndrome	Ventriculomegaly, Palpebral edema, Hydrocephalus, Gingival overgrowth, Pedal edema, Abnormal uppe...	ORPHA:2836
Mucopolysaccharidosis Type 3	Malabsorption, Abnormality of the dentition, Cardiomegaly, Hydrocephalus, Abnormal myocardium mor...	ORPHA:581
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
15Q Overgrowth Syndrome	Tricuspid regurgitation, Dental crowding, High, narrow palate, Hydrocephalus, Mitral regurgitatio...	ORPHA:314585
Hurler Syndrome	Abnormal heart valve morphology, Angina pectoris, Hydrocephalus, Macroglossia, Cardiomyopathy, Hy...	ORPHA:93473
Peters Plus Syndrome	Polyhydramnios, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely spaced teeth...	ORPHA:709
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Wide mouth, Right bundle br...	OMIM:618590
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Diastema, Hydrocepha...	ORPHA:96121
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Hydrocephalus, Cleft...	OMIM:309801
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis	ORPHA:616
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Oligohydramnios	OMIM:614219
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Polyhydramnios, Patent ductus arteriosus, Stroke, Umbilical hernia, ...	OMIM:618188
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Short philtrum, Bruis...	OMIM:185070
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Noncommunicating hydrocephalus, Downturned corners of mouth, Short ph...	OMIM:619320
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Cleft palate, Mitral va...	OMIM:245600
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Hydrocephalus, Cleft palate, Narrow palate, Hypert...	ORPHA:87
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Vascular dilatation	OMIM:219730
Methylcobalamin Deficiency Type Cble	Hypertension, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	ORPHA:2169
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hydrocephalus, Gingival overgrowth, Narrow palate, Anteriorly placed anus, Hypertens...	OMIM:123790
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Lymphedema, Hydrocephalus, Submucous cleft hard palate, High pal...	ORPHA:1340
Semilobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Abnormal heart rate var...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Abnormal heart rate var...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Abnormal heart rate var...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Abnormal heart rate var...	ORPHA:93924
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricle di...	OMIM:619575
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, ...	OMIM:301043
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon	ORPHA:2318
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Downturned cor...	ORPHA:1780
Kabuki Syndrome	Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Orofacial cleft...	ORPHA:2322
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated...	OMIM:252100
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology...	ORPHA:580
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Walker-Warburg Syndrome	Ventriculomegaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula, Dandy-Wa...	ORPHA:899
Pontocerebellar Hypoplasia, Type 7	Deep philtrum, Hydrocephalus, High palate, Tongue fasciculations, Thick upper lip vermilion, Vent...	OMIM:614969
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Cole-Carpenter Syndrome 2	Hydrocephalus, High palate, Dentinogenesis imperfecta, Oligohydramnios	OMIM:616294
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,...	OMIM:615219
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Albers-Schönberg Osteopetrosis	Carious teeth, Hydrocephalus, Abnormality of the dentition	ORPHA:53
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Intestin...	OMIM:618280
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Polyhydramnios, Hydrocephalus, Cleft palate, Microdontia, Vent...	ORPHA:1812
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios	OMIM:615368
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Retinal telangiectasia	OMIM:620157
Apert Syndrome	Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor...	OMIM:101200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Intrauterine growth retardation, Hydrocephalus, Short philtrum	ORPHA:163966
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Orofacial cleft, Wide mouth, Dandy-Walker malformation	ORPHA:1647
Muenke Syndrome	High, narrow palate, Hydrocephalus	ORPHA:53271
Vacterl With Hydrocephalus	Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesop...	ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, High palate	OMIM:608091
Trisomy 8P	Peripheral pulmonary artery stenosis, Abnormal atrioventricular connection, Hydrocephalus, Malrot...	ORPHA:264450
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Cockayne Syndrome Type 3	Carious teeth, Subdural hemorrhage, Retinal hemorrhage, Astrocytosis, Cardiomyopathy, Aortic root...	ORPHA:90324
Meckel Syndrome	Encephalocele, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Hydrocephalus, Anencepha...	ORPHA:564
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Hydrocephalus,...	ORPHA:2461
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Hydrocephalus, Subvalvular aorti...	OMIM:613001
Joubert Syndrome With Hepatic Defect	Portal hypertension, Occipital encephalocele, Hydrocephalus, Orofacial cleft	ORPHA:1454
Raine Syndrome	Natal tooth, Protruding tongue, Hydrocephalus, Gingival overgrowth, Cleft palate, Wide mouth, Hig...	OMIM:259775
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Ventricular septal defect, Cleft upper lip, Aqueductal stenosis, Velophary...	OMIM:154400
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Tracheoesophageal fistula, Gingival overgrowth, Abnormal intestine morphology, Ana...	ORPHA:1834
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Polyhydramnios	OMIM:187600
Gorlin Syndrome	Carious teeth, Hydrocephalus	ORPHA:377
Cousin Syndrome	Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microglossia	OMIM:260660
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter...	OMIM:100300
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu...	ORPHA:284984
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension	OMIM:616482
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni...	ORPHA:268810
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip ve...	OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Cleft upper lip, Meningoencephalocele, Hydrocephalus, ...	OMIM:236670
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Polyhydramnios, Hydrocephalus, Holoprosenceph...	OMIM:612651
Pfeiffer Syndrome Type 2	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia	ORPHA:93259
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Carious teeth, Hydrocephalus, Mitral valve prolapse, Ascending tubular ...	ORPHA:536467
Mend Syndrome	Asymmetry of the mouth, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aort...	ORPHA:401973
Witteveen-Kolk Syndrome	Thin upper lip vermilion, Branchial fistula, Ventriculomegaly, Polyhydramnios, High, narrow palat...	OMIM:613406
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Superficial Siderosis	Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he...	ORPHA:247245
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Rhombencephalosynapsis	Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis...	ORPHA:59315
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Campomelic Dysplasia	Irregular dentition, Spina bifida, Polyhydramnios, Carious teeth, Hydrocephalus, Submucous cleft ...	OMIM:114290
Peters-Plus Syndrome	Short lingual frenulum, Polyhydramnios, Anteriorly placed anus, Conical incisor, Widely spaced te...	OMIM:261540
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Aqueductal stenosis, Hydrocephalus, Hi...	OMIM:619512
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Atrial septal defect, Exaggerated median tongue furrow, Patent ductus arteriosus,...	OMIM:312870
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio...	OMIM:231005
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro...	ORPHA:235
Smith-Lemli-Opitz Syndrome	Dental crowding, Holoprosencephaly, Atrial septal defect, Bifid uvula, Dandy-Walker malformation,...	OMIM:270400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess, H...	OMIM:600145
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Hydrops fetalis, Tracheoesophageal fistula, Orofacial c...	ORPHA:268249
Radial Aplasia, X-Linked	Hydrocephalus, Anal atresia	OMIM:312190
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Hydrocephalus	OMIM:300863
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus	ORPHA:91350
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick vermilion border, Dandy-W...	OMIM:304340
H Syndrome	Malabsorption, Cleft upper lip, Hydrocephalus, Abnormal cardiovascular system physiology, Gingiva...	ORPHA:168569
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d...	OMIM:619534
Sturge-Weber Syndrome	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph...	ORPHA:3205
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Wide mouth, Stillbirth, Duo...	OMIM:243605
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Hydrocephalus, Persistence of primary teeth	OMIM:259710
Pfeiffer Syndrome	High palate, Hydrocephalus, Dental crowding	OMIM:101600
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Hydrocephalus, Orofacial cleft, Narrow mouth, Anal atresia	ORPHA:3301
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, ...	OMIM:217090
Yunis-Varon Syndrome	Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridg...	ORPHA:3472
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal ...	OMIM:227646
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Myelomening...	OMIM:219000
Gracile Bone Dysplasia	Hydrocephalus, Ascites, Ankyloglossia	OMIM:602361
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Crouzon Syndrome	High palate, Hydrocephalus, Dental crowding	OMIM:123500
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Ventriculom...	OMIM:617866
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus, Long philtrum	OMIM:207410
Alexander Disease	Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, High palate, Hypotension	ORPHA:58
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Gingival overgrowth, Stillbirth, Long philtrum, Ascites, Ventriculomegaly	OMIM:259720
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Jacobsen Syndrome	Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Holoprosencephaly, Atrial septal defe...	OMIM:147791
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Thick vermilion border, ...	OMIM:619475
Cole-Carpenter Syndrome 1	Microdontia, Hydrocephalus, Communicating hydrocephalus, Dentinogenesis imperfecta	OMIM:112240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Hydrocephalus, Arrhythmia	ORPHA:157
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Tented upper lip vermilion, Ventriculomegaly, Dandy-Walker malformation	OMIM:618476
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Coccidioidomycosis	Pericarditis, Eosinophilia, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocyto...	ORPHA:228123
Neurooculorenal Syndrome	Ventriculomegaly, Intestinal malrotation, Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitra...	OMIM:620305
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Proteus-Like Syndrome	Open bite, Venous insufficiency, Hydrocephalus, Communicating hydrocephalus	ORPHA:2969
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Pyloric stenosis, Hydrocephalus, Thick lower lip vermi...	OMIM:218040
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Narrow mouth, Hydrocephalus, Thin vermilion border, Long philtrum	OMIM:616007
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Fanconi Anemia, Complementation Group R	Hydrocephalus, Anal atresia, Agenesis of permanent teeth	OMIM:617244
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, ...	OMIM:607872
Multiple Sulfatase Deficiency	Periorbital edema, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Gaucher Disease	Abnormal bleeding, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericard...	ORPHA:355
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra...	ORPHA:363700
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Baller-Gerold Syndrome	Hydrocephalus, Cleft palate, Perineal fistula, Anteriorly placed anus, Abnormal heart morphology,...	OMIM:218600
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, P...	ORPHA:538
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, High palate	ORPHA:2720
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Aortic regurgitation, Macroglossia, Mitral regurgitation, Widely spa...	ORPHA:309282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Hydrocephalus	OMIM:259700
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Hydrocephalus, Dental malocclusion, Hypodontia, Intrauterine growth re...	OMIM:101800
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis	OMIM:162200
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Narrow mouth, Atrial septal defect, Umbili...	OMIM:304120
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Abnormal pulmonary valve morphology, Premature loss of primary teeth, ...	ORPHA:667
Mend Syndrome	Smooth philtrum, Hydrocephalus, High palate, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Arachnoiditis	Hydrocephalus	ORPHA:137817
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Cole-Carpenter Syndrome	Delayed eruption of teeth, Intrauterine growth retardation, Communicating hydrocephalus, Abnormal...	ORPHA:2050
Rabin-Pappas Syndrome	Hydrocephalus, Retinal telangiectasia	OMIM:620155
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Thin upper lip vermilion, Epistaxis, Polyhydramnios, Patent foramen ...	OMIM:619841
Focal Dermal Hypoplasia	Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Hydrocephalus,...	OMIM:305600
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Paralytic ileus, Hypertension,...	ORPHA:139417
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce...	ORPHA:2072
Functioning Gonadotropic Adenoma	Hydrocephalus, Ascites	ORPHA:91348
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate	ORPHA:300570
Fraser Syndrome 3	Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, Ascites, Oligohydramnios	OMIM:617667
Multiple Sulfatase Deficiency	Hydrocephalus, Smooth philtrum	ORPHA:585
Holoprosencephaly 9	Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilateral...	OMIM:610829
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Stroke, Ventriculomegaly	ORPHA:395
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios	ORPHA:3016
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Abnormal dental enamel morphology, Hydrocephalus, Dilated cardiomyopathy...	ORPHA:2556
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Cleft upper lip, Hydrocephalus, Malrotation of small bowel, Cleft pala...	OMIM:194190
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Cleft upper lip, Hydrocephalus, Frontal encephalocele,...	OMIM:268300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Hydrocephalus, Muscular ventricular septal defect, Coarctation of aort...	OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Achondroplasia	Hydrocephalus	ORPHA:15
Phace Syndrome	Dandy-Walker malformation, Cerebral arteriovenous malformation	ORPHA:42775
Dpagt1-Cdg	Intracranial hemorrhage, Anasarca, Prolonged QT interval, Stroke-like episode	ORPHA:86309
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Hydrocephalus, Dehydration	OMIM:619377
Pseudoaminopterin Syndrome	Hydrocephalus, Orofacial cleft, High palate, Short philtrum, Microdontia, Patent foramen ovale	ORPHA:221120
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Intrauterine growth r...	OMIM:614083
Microphthalmia With Limb Anomalies	Macrodontia, Cleft upper lip, Venous insufficiency, Hydrocephalus, Cleft palate, Thin vermilion b...	ORPHA:1106
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal...	OMIM:107480
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Deep philtrum	ORPHA:1237
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, High, narrow palate, Hydrocephalus, Submucous cleft hard palat...	ORPHA:2658
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Thin upper lip vermilion, Subdural hemorrhage, Intrauterine growth retardation	OMIM:619714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Cleft upper lip, Hydrocephalus, Patent ductus...	OMIM:164210
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Kabuki Syndrome 1	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, M...	OMIM:147920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Situs inversus totalis	OMIM:244400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Hydrocephalus, Anteriorly placed anus, Hypertension, Stillbirth, Narrow mouth	ORPHA:95699
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Cerebral arteriovenous malformation	OMIM:175050
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Communicating hydrocephalus	ORPHA:1064
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Achondroplasia	Hydrocephalus, Polyhydramnios	OMIM:100800
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Cockayne Syndrome A	Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hyper...	OMIM:216400
Laurin-Sandrow Syndrome	Downturned corners of mouth, Hydrocephalus	ORPHA:2378
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus	ORPHA:65285
Exstrophy-Epispadias Complex	Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia	ORPHA:322
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Craniopharyngioma	Hydrocephalus, Cerebral ischemia, Myocardial infarction	ORPHA:54595
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Smooth philtrum	OMIM:277400
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Prominent scalp veins, Secundum atrial septal defect, Hyd...	OMIM:264090
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Prominent scalp veins, Abnormality of the dentition, Hydro...	ORPHA:3455
Oeis Complex	Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis...	OMIM:258040
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus	ORPHA:220295
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hyper...	OMIM:133540
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Open mouth, Hypoplastic aortic arch, Hydrocephalus, Ventriculomegaly	ORPHA:457284
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Hydrocephalus, Downturned corners of mouth, Intrauteri...	OMIM:619321
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom...	ORPHA:573278
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Subependymal ...	ORPHA:805
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommunicating hydro...	OMIM:619325
Pmm2-Cdg	Thin upper lip vermilion, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Wide m...	ORPHA:79318
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Hypoplasminogenemia	Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malfo...	ORPHA:722
Cryptococcosis	Pleural effusion, Hydrocephalus, Cerebral edema	ORPHA:1546
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Ventriculomegaly	OMIM:617011
Trichorhinophalangeal Syndrome, Type Ii	Cerebral arteriovenous malformation	OMIM:150230
Tetraamelia Syndrome 1	Anal atresia, Hydrocephalus, Cleft palate, Cleft upper lip	OMIM:273395
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, High palate, Ventriculomegaly	ORPHA:457359
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Juvenile Polyposis Syndrome	Cerebral arteriovenous malformation	ORPHA:2929
Neurofibromatosis Type 1	Hypertension, Hydrocephalus, Arterial stenosis	ORPHA:636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Everted lower lip vermilion, Ventriculomegaly	OMIM:253280
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Abnormal palate morphology	ORPHA:3042

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itgb8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itgb8.

No publications found that use IMPC mice or data for Itgb8.

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MGI Allele	Allele Type	Produced
Itgb8^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Itgb8^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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Gene: Itgb8 MGI:1338035

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Eye Morphology

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Eye Morphology

X-ray

Embryo LacZ

X-ray

Eye Morphology

X-ray

Eye Morphology

Adult LacZ

Immunophenotyping

Immunophenotyping

Human diseases caused by Itgb8 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data