Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Smarcb1 MGI:1328366

Gene Summary

Name:

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Synonyms:

Baf47, Snf5, SNF5/INI1, integrase interactor 1, Ini1

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 organogenesis	Smarcb1^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
abnormal coat appearance	Smarcb1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.28×10^-06
decreased prepulse inhibition	Smarcb1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.89×10^-06
increased cornea thickness	Smarcb1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Smarcb1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal eye anterior chamber depth	Smarcb1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.72×10^-33
abnormal skin coloration	Smarcb1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.72×10^-12

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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	100% (2 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	100% (2 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	100% (2 of 2)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	100% (2 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	100% (2 of 2)
Intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower leg	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 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	100% (2 of 2)
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	100% (2 of 2)
	N/A	heterozygote	100% (2 of 2)
Pharynx	N/A	heterozygote	100% (2 of 2)
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	100% (2 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	100% (2 of 2)
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	100% (2 of 2)

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

Anatomy	Background staining in controls (WT)

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

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

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

4 Images

View images

Human diseases caused by Smarcb1 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 Smarcb1 (7 diseases)
Human diseases predicted to be associated with Smarcb1 (722 diseases)

The table below shows human diseases associated to Smarcb1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor, Meningioma	OMIM:162091
Rhabdoid Tumor Predisposition Syndrome 1	Medulloblastoma, Choroid plexus carcinoma	OMIM:609322
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Meningioma	Brain stem compression, Hydrocephalus, Obesity	ORPHA:2495
Coffin-Siris Syndrome	Hepatoblastoma, Papillary thyroid carcinoma	ORPHA:1465
Coffin-Siris Syndrome 3	Intrauterine growth retardation, Short stature, Dandy-Walker malformation	OMIM:614608

The table below shows human diseases predicted to be associated to Smarcb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Schwannomatosis 2	Schwannoma, Spinal cord tumor	OMIM:615670
Adrenocortical Carcinoma, Hereditary	Adrenocortical carcinoma, Choroid plexus carcinoma	OMIM:202300
Meningioma, Familial, Susceptibility To	Meningioma	OMIM:607174
Prostate Cancer/Brain Cancer Susceptibility	Neoplasm of the central nervous system, Prostate cancer	OMIM:603688
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Glioma Susceptibility 2	Oligodendroglioma, Meningioma	OMIM:613028
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor, Meningioma	OMIM:162091
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Rhabdoid Tumor Predisposition Syndrome 1	Medulloblastoma, Choroid plexus carcinoma	OMIM:609322
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251636
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Medulloblastoma	Medulloblastoma	OMIM:155255
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon	ORPHA:447877
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Lissencephaly 4	Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature	OMIM:614019
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Martsolf Syndrome 2	Lateral ventricle dilatation, Short stature, Decreased body weight	OMIM:619420
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Pontocerebellar Hypoplasia, Type 12	Hypoplasia of the brainstem, Lateral ventricle dilatation	OMIM:618266
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Desmoid Disease, Hereditary	Desmoid tumors, Breast carcinoma	OMIM:135290
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:77299
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Masa Syndrome	Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Hypoplasia of the brainstem, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:3035
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Short stature	OMIM:618330
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ...	ORPHA:276399
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:1788
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain...	ORPHA:300573
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr...	ORPHA:733
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis ...	OMIM:619895
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neuroblastoma, Susceptibility To, 2	Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma	OMIM:613013
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of the ventral pons	OMIM:607596
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Galloway-Mowat Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Short stature	ORPHA:2065
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Peripheral primiti...	ORPHA:370348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera...	ORPHA:79243
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation	ORPHA:85290
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Obesity, Delayed puberty	ORPHA:141333
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum	OMIM:619517
Joubert Syndrome 3	Molar tooth sign on MRI, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle...	OMIM:608629
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation	OMIM:615716
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive in infancy	ORPHA:284417
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum...	OMIM:619302
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Severe postnatal growth retardation, Lateral...	ORPHA:3078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Dilated th...	OMIM:613154
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation	OMIM:618606
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men...	OMIM:162260
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	OMIM:251230
Bilateral Generalized Polymicrogyria	Growth delay, Lateral ventricle dilatation, Short stature	ORPHA:208447
Neurooculorenal Syndrome	Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:620305
Fanconi Anemia, Complementation Group N	Nephroblastoma, Medulloblastoma, Neuroblastoma	OMIM:610832
Cach Syndrome	Growth delay, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affect...	ORPHA:135
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Intrauterine growth retardation, Hypoplasia of the brainstem, Lateral v...	OMIM:617751
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology, Short stature	ORPHA:1532
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:488635
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:352682
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:58
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Malan Overgrowth Syndrome	Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:619512
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Progressive Non-Fluent Aphasia	Brain neoplasm	ORPHA:100070
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly, Extra-axial cerebrospinal f...	OMIM:618291
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Short stature	OMIM:619995
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft	OMIM:617542
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Congenital Central Hypoventilation Syndrome	Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma	ORPHA:661
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lateral ventricle dilatation, Dilated third ventricle, Obesity, Partial agenesis of the corpus ca...	OMIM:617296
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Lateral ventricle dilatation	OMIM:617854
Slc35A2-Cdg	Short stature, Abnormal midbrain morphology, Failure to thrive in infancy, Lateral ventricle dila...	ORPHA:356961
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul...	ORPHA:488627
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter...	OMIM:616034
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short stature, Obesity	ORPHA:2183
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Fried Syndrome	Hydrocephalus	ORPHA:85335
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Lateral ventricle dilatation, Short stature	OMIM:619847
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene...	OMIM:612863
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Lateral ventricle dilatation, Increased CSF lactate, Atrophy/Deg...	ORPHA:565624
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hypoplasia of the brainstem, Short stature, Hydrocephalus	OMIM:618174
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Liposarcoma	Sarcoma	ORPHA:69078
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Failure to thrive, Short stature, Rhizomelic leg short...	ORPHA:397715
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity	OMIM:601794
Aicardi-Goutieres Syndrome 4	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Platelet Disorder, Undefined	Neuroblastoma, Hematological neoplasm	OMIM:173420
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Blue Rubber Bleb Nevus	Hemangioma, Cerebellar medulloblastoma	OMIM:112200
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Congenital Toxoplasmosis	Intrauterine growth retardation, Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly	ORPHA:858
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ...	OMIM:616415
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Intrauterine growt...	OMIM:225790
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Medulloblastoma	Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neuroblastoma, Cerebellar medulloblastoma	ORPHA:616
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Short stature	OMIM:154400
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Cog5-Cdg	Intrauterine growth retardation, Lateral ventricle dilatation, Short stature, Atrophy/Degeneratio...	ORPHA:263487
Temple Syndrome	Small for gestational age, Short stature, Postnatal growth retardation, Hydrocephalus, Obesity	ORPHA:254516
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Hypoplasia of the brainstem, Lateral ventricle dilatation, Intrauterine...	ORPHA:572798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of...	OMIM:613153
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Lissencephaly 5	Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus	OMIM:615191
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Lateral ve...	OMIM:611209
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Failure to thrive, Hydrocephalus	OMIM:306955
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Short stature, Overweight, Hydrocephalus, Lateral ventricle dilatation, Dilate...	OMIM:619575
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Sarcoma	ORPHA:69077
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo...	OMIM:115310
Osteopetrosis, Autosomal Recessive 7	Growth delay, Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Medulloblastoma	ORPHA:199276
Oxoglutaric Aciduria	Hydrocephalus, Short stature	ORPHA:31
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620156
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo...	ORPHA:90354
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Intrauterine growth ret...	OMIM:619229
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Large for gest...	ORPHA:544488
Distal Deletion 10Q	Short stature, Postnatal growth retardation, Spina bifida occulta, Lateral ventricle dilatation, ...	ORPHA:96148
Charge Syndrome	Short stature, Aqueductal stenosis, Postnatal growth retardation, Holoprosencephaly, Delayed pube...	ORPHA:138
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Obesity	ORPHA:2822
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Benign neoplasm of the central nervous system, Hamartoma of tongue	ORPHA:1338
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Lateral ventricle dilatation, Disproportionate short-limb short stature,...	OMIM:619479
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Intrauterine gro...	OMIM:611134
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Short stature	ORPHA:1516
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Short stature	ORPHA:1946
Congenital Muscular Dystrophy, Fukuyama Type	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	ORPHA:272
Noonan Syndrome 14	Lateral ventricle dilatation, Short stature	OMIM:619745
Aicardi-Goutieres Syndrome 9	Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive, Weight loss	OMIM:619487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus	OMIM:615181
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o...	ORPHA:902
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration	OMIM:245200
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Temple Syndrome	Short stature, Small for gestational age, Overweight, Hydrocephalus, Obesity, Truncal obesity, In...	OMIM:616222
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Short stature, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:609757
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature	ORPHA:1861
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the brainstem, Hydrocephalus	OMIM:613155
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Short stature, Small for gestational age, Lateral ventricle dilatation,...	OMIM:619869
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma	OMIM:601399
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Bainbridge-Ropers Syndrome	Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive	OMIM:615485
Yellow Nail Syndrome	Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma	ORPHA:662
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of...	ORPHA:370959
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f...	ORPHA:77301
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Failure to thrive, V...	OMIM:619833
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Microtriplication 11Q24.1	Keratoconus, Synophrys, Long eyelashes, Thick eyebrow	ORPHA:289522
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ...	OMIM:109400
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Arthrogryposis, Distal, Type 5	Keratoconus, Keratoglobus, Astigmatism	OMIM:108145
Optic Pathway Glioma	Growth delay, Hydrocephalus	ORPHA:2086
Steinert Myotonic Dystrophy	Endometrial carcinoma, Brain neoplasm, Choroidal melanoma, Non-medullary thyroid carcinoma, Ovari...	ORPHA:273
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive	OMIM:269920
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	OMIM:300863
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Short stature	OMIM:300558
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Neoplasm of the nervous system, Ganglioneuroblastoma	ORPHA:2151
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Aicardi Syndrome	Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plex...	OMIM:304050
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Hirsutism, Decreased corneal thickness	ORPHA:293967
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	OMIM:616355
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Metatropic Dysplasia	Hydrocephalus, Severe short stature	ORPHA:2635
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:617557
Halperin-Birk Syndrome	Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agenesis of corpus callosum, Ve...	OMIM:618651
1Q44 Microdeletion Syndrome	Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Myelomeningocele, Hydrocephalus	ORPHA:1914
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:619534
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Short stature, Obesity, Ventriculomegaly	OMIM:615630
Weaver Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Desmoid Tumor	Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Arachnoiditis	Hydrocephalus	ORPHA:137817
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma	ORPHA:314478
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Hypoplasia of the brainstem, Intrauterine growth ret...	ORPHA:2169
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Short stature	OMIM:241800
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Short stature	ORPHA:2701
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Hydrocephalus, Disproportionate short-trunk short stature	OMIM:613330
Fanconi Anemia, Complementation Group I	Short stature, Colpocephaly, Decreased body weight, Intrauterine growth retardation, Agenesis of ...	OMIM:609053
Thanatophoric Dysplasia	Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri...	ORPHA:2655
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive	OMIM:614098
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Prader-Willi Syndrome Due To Translocation	Intrauterine growth retardation, Lateral ventricle dilatation, Short stature, Obesity	ORPHA:177907
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short stature	OMIM:618367
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	ORPHA:163966
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Conjunctivitis, Sparse hair	OMIM:242150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the pons, Hydrocephalus, Failure to thrive	OMIM:620157
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal...	OMIM:620113
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Dandy-Walker malformation	ORPHA:79332
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Obesity	ORPHA:171839
Nijmegen Breakage Syndrome	Lymphoma, Medulloblastoma, Glioma, Rhabdomyosarcoma	OMIM:251260
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Short stature	OMIM:112240
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Tetrasomy 15Q26	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity	ORPHA:2180
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydrocephalus	OMIM:615249
Costello Syndrome	Keratoconus, Woolly hair, Generalized hyperpigmentation, Abnormal hair morphology	ORPHA:3071
Helsmoortel-Van Der Aa Syndrome	Short stature, Obesity, Truncal obesity, Lateral ventricle dilatation, Intrauterine growth retard...	OMIM:615873
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive, Short stature	OMIM:602361
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus	ORPHA:85284
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Pineoblastoma	Retinoblastoma, Pinealoma	ORPHA:251909
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o...	OMIM:608091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Abnormal pons morphology, Lateral ventricle dilatation, Large for gestational age	OMIM:300868
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Multiple Sulfatase Deficiency	Hydrocephalus, Short stature, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Short stature, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus	OMIM:617244
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay, Hypoplasia of the brainstem, Molar tooth...	OMIM:614424
Albers-Schönberg Osteopetrosis	Hydrocephalus, Short stature	ORPHA:53
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Partial agenesis of the corpus callosum, Disproportionate short stature, Severe po...	OMIM:210710
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Cutis Laxa, Autosomal Recessive, Type Iib	Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Hydrolethalus	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	ORPHA:2189
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to thrive, Ventriculomegaly	OMIM:614576
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Hydrocephalus, Short stature	OMIM:616294
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature	ORPHA:1064
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma	ORPHA:44890
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Histiocytoma, Osteosarcoma	OMIM:112250
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Hydrocephalus, Short stature, Decreased body weight	OMIM:614886
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus	ORPHA:401777
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation, Short stature	OMIM:181270
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Short stature, Ventriculomegaly, Disproportionate short-tr...	ORPHA:1855
Griscelli Syndrome	Encephalocele, Hydrocephalus, Short stature	ORPHA:381
Milroy Disease	Angiosarcoma, Neoplasm of the skin	ORPHA:79452
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Encephalocele, Agenesis of corpus callosum, Hydrocephalus	ORPHA:220497
Angelman Syndrome	Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormal brainstem morphology, Short stature	ORPHA:2720
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Short stature, Overweight, Hydrocephalus, Dilated third ventricle, Ventriculom...	ORPHA:500055
Bohring-Opitz Syndrome	Nephroblastoma, Medulloblastoma	ORPHA:97297
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Desmosterolosis	Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Failure to thrive, Ventriculo...	OMIM:602398
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Kabuki Syndrome 1	Short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Lateral ventricle dilat...	OMIM:147920
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Walker malf...	OMIM:617822
Fanconi Anemia, Complementation Group B	Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	OMIM:300514
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:300896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventricul...	OMIM:613150
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Thanatophoric Dysplasia Type 1	Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly	ORPHA:1860
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Small for gestational age, Postnatal growth retardation, Hydrocephalus, Intrauteri...	OMIM:257300
Emanuel Syndrome	Failure to thrive, Hydrocephalus, Growth delay, Intrauterine growth retardation, Dandy-Walker mal...	ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplas...	OMIM:614643
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Shallow anterior chamber, Hypoplastic ni...	OMIM:230740
Emanuel Syndrome	Dandy-Walker malformation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Ven...	OMIM:609029
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature	OMIM:224400
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Desmosterolosis	Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to th...	ORPHA:35107
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
3C Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	ORPHA:7
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Encephalocele, Agenesis of corpus callosum, Hydrocephalus	ORPHA:220493
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly	OMIM:614969
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Achondroplasia	Hydrocephalus, Disproportionate short stature, Rhizomelia, Obesity	ORPHA:15
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus callosum, Lateral ve...	ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Thanatophoric Dysplasia, Type I	Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature	OMIM:187600
Rabin-Pappas Syndrome	Hypoplasia of the pons, Hydrocephalus, Failure to thrive in infancy, Obesity	OMIM:620155
Monosomy 22	Gonadal neoplasm, Schwannoma, Meningioma, Sarcoma	ORPHA:96123
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-...	ORPHA:2839
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Walker-Warburg Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Icf Syndrome	Communicating hydrocephalus, Short stature	ORPHA:2268
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Short stature, Hydrocephalus	OMIM:613686
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	ORPHA:2836
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly	ORPHA:261250
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Failure to thrive	OMIM:259700
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Multiple Sulfatase Deficiency	Hydrocephalus, Short stature	ORPHA:585
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Short stature, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Hydrocephalus	ORPHA:2075
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus	ORPHA:2318
Trisomy 17P	Growth delay, Intrauterine growth retardation, Hydrocephalus, Short stature	ORPHA:261290
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama...	ORPHA:201
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma	OMIM:619750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Tetrasomy 5P	Postnatal growth retardation, Hydrocephalus, Failure to thrive	ORPHA:3309
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Obesity, Growth delay, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:607872
Cole-Carpenter Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Short stature	ORPHA:2050
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin...	OMIM:616546
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Agenesis of corpus ...	OMIM:253800
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Khan-Khan-Katsanis Syndrome	Short stature, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Ventriculomegaly	OMIM:618460
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness	OMIM:618175
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
47,Xyy Syndrome	Hydrocephalus, Abnormal brainstem morphology	ORPHA:8
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Short stature, Cachexia	ORPHA:220295
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
1Q21.1 Microdeletion Syndrome	Short stature, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Agenesis of cor...	ORPHA:250989
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Limbal stem cell d...	ORPHA:2363
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Short stature	ORPHA:1834
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib...	ORPHA:276152
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Lowry-Maclean Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus	ORPHA:2409
Mirage Syndrome	Intrauterine growth retardation, Hydrocephalus, Short stature, Decreased body weight	OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the...	OMIM:236670
Distal Triplication 15Q	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Large for gestational age	ORPHA:314588
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Severe short stature, Rhizomelia, Disproportionate short stature	OMIM:616482
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:264480
Choreoacanthocytosis	Lateral ventricle dilatation, Weight loss	ORPHA:2388
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Severe short stature	ORPHA:1865
Fg Syndrome Type 1	Hydrocephalus, Short stature, Slender build, Ventriculomegaly	ORPHA:93932
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Failure to thrive	ORPHA:974
Mucopolysaccharidosis, Type Ii	Mild short stature, Hydrocephalus, Severe short stature, Short stature	OMIM:309900
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum	ORPHA:1780
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Mild postnatal growth retardation, Short stature, Hydrocephalus, Dispr...	OMIM:101800
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly	OMIM:301043
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Postnatal growth retardation, Short stature	ORPHA:168577
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Cerebrooculonasal Syndrome	Encephalocele, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	OMIM:605627
Functioning Gonadotropic Adenoma	Hydrocephalus, Delayed puberty	ORPHA:91348
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Achondroplasia	Brain stem compression, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia	OMIM:100800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agen...	OMIM:614866
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Failure to thrive, Short stature	OMIM:620083
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Obesity, Growth delay, ...	ORPHA:54595
Isotretinoin-Like Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus	ORPHA:2306
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia	ORPHA:457284
Whipple Disease	Hydrocephalus, Cachexia	ORPHA:3452
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Intrauterine growth retardation	OMIM:616914
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Meige Disease	Angiosarcoma	ORPHA:90186
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph...	ORPHA:1018
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose...	OMIM:610828
Lymphedema-Distichiasis Syndrome	Fibrosarcoma	ORPHA:33001
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature	OMIM:253220
Monosomy 18Q	Short stature, Hydrocephalus, Growth delay, Failure to thrive, Slender build	ORPHA:1600
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Short stature	OMIM:130720
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut...	ORPHA:99880
Osteopetrosis, Autosomal Recessive 5	Growth delay, Hydrocephalus, Short stature, Ventriculomegaly	OMIM:259720
15Q Overgrowth Syndrome	Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform...	ORPHA:314585
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Mohr Syndrome	Hydrocephalus, Short stature	OMIM:252100
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr...	ORPHA:143
Arterial Tortuosity Syndrome	Keratoconus, Keratoglobus	ORPHA:3342
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Hydrocephalus, Short stature	OMIM:616007
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Rhizomelia	OMIM:618162
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Dextrocardia	Hydrocephalus	ORPHA:1666
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia	OMIM:260660
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:618820
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Failure to thrive	OMIM:277400
6Q Terminal Deletion Syndrome	Colpocephaly, Failure to thrive, Obesity	ORPHA:75857
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Failure to thrive, Hydrocephalus	ORPHA:90652
Apert Syndrome	Rhizomelic arm shortening, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:101200
Hurler Syndrome	Hydrocephalus, Short stature	OMIM:607014
Marden-Walker Syndrome	Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to th...	ORPHA:2461
H Syndrome	Hydrocephalus, Short stature, Delayed puberty	ORPHA:168569
Fanconi Anemia, Complementation Group D2	Small for gestational age, Hydrocephalus, Agenesis of corpus callosum, Short stature	OMIM:227646
Jacobsen Syndrome	Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Holoprosencephaly	OMIM:147791
Opitz-Kaveggia Syndrome	Hydrocephalus, Partial agenesis of the corpus callosum, Short stature	OMIM:305450
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Failure to thrive, Short stature	OMIM:115150
Aymé-Gripp Syndrome	Postnatal growth retardation, Hydrocephalus, Short stature, Ventriculomegaly	ORPHA:1272
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Mucopolysaccharidosis Type 1	Hydrocephalus, Short stature	ORPHA:579
Hurler Syndrome	Growth delay, Hydrocephalus, Short stature	ORPHA:93473
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Short stature	ORPHA:261537
Cardiofaciocutaneous Syndrome	Hydrocephalus, Short stature, Failure to thrive in infancy	ORPHA:1340
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Osteopathia Striata With Cranial Sclerosis	Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Fail...	OMIM:300373
Short-Rib Thoracic Dysplasia 12	Intrauterine growth retardation, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Mend Syndrome	Hydrocephalus, Failure to thrive, Short stature, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Failure to thrive, Short stature, Dandy-Walker malformation	OMIM:300960
Histiocytoid Cardiomyopathy	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Smith-Lemli-Opitz Syndrome	Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Growth delay, Colpocephaly...	OMIM:270400
Holoprosencephaly 9	Hydrocephalus, Partial agenesis of the corpus callosum, Short stature, Holoprosencephaly	OMIM:610829
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Hydrocephalus, Short stature	OMIM:245600
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ...	OMIM:249000
Kabuki Syndrome	Short stature, Hydrocephalus, Obesity, Failure to thrive, Ventriculomegaly	ORPHA:2322
Marshall-Smith Syndrome	Short stature, Hydrocephalus, Decreased body weight, Failure to thrive, Agenesis of corpus callos...	OMIM:602535
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
7Q11.23 Microduplication Syndrome	Short stature, Hydrocephalus, Obesity, Growth delay, Ventriculomegaly	ORPHA:96121
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Microcornea, Keratoconus	OMIM:225400
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Spin...	ORPHA:235
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Short stature	ORPHA:261552
Fanconi Anemia, Complementation Group L	Growth delay, Intrauterine growth retardation, Hydrocephalus	OMIM:614083
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Short stature, Disproportionate short-trunk short stature	OMIM:253200
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Growth delay, Intrauterine growth retardation, Hydrocephalus, Failure to thrive	ORPHA:79282
Semilobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa...	ORPHA:93924
Raine Syndrome	Hydrocephalus, Short stature	OMIM:259775
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Hydrocephalus, Spinal dysraphism, Holoprosencephaly,...	ORPHA:2162
Orofaciodigital Syndrome I	Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Short stature	OMIM:311200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Hydrocephalus, Short stature, Abdominal obesity	OMIM:619321
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Small for gestational age, Spina bifida, Postnatal growth retardation, Hydrocephal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Small for gestational age, Spina bifida, Postnatal growth retardation, Hydrocephal...	ORPHA:363958
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Hydrocephalus	ORPHA:536467
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive, Short stature	OMIM:102500
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Severe short stature, Agenesis of corpus callosum	ORPHA:2658
Full Nf2-Related Schwannomatosis	Myelopathy, Brain stem compression, Hydrocephalus	ORPHA:637
Wolf-Hirschhorn Syndrome	Short stature, Small for gestational age, Hydrocephalus, Growth delay, Severe postnatal growth re...	OMIM:194190
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Short stature	ORPHA:163979
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Obesity, Intr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Obesity, Intr...	ORPHA:353277
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Hydrocephalus, Growth delay, Delayed puberty, Ventriculomegaly	ORPHA:2072
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive, Short stature, Delayed puberty	ORPHA:955
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Weight loss, Growth delay, Intrauterine growth retard...	ORPHA:84
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Microphthalmia With Limb Anomalies	Hydrocephalus, Failure to thrive, Short stature	ORPHA:1106
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Cryptococcosis	Hydrocephalus	ORPHA:1546
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Overweight, Hydrocephalus, Delayed puberty, Obesity, Decreased body weight, Intrauterine growth r...	OMIM:619475
Osteogenesis Imperfecta	Short stature, Rhizomelia, Small for gestational age, Hydrocephalus, Noncommunicating hydrocephal...	ORPHA:666
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Hydrocephalus, Growth delay, Failure to thrive, Agenesis of corpus callosum	ORPHA:2556
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Neonatal short-limb short stature, Disproportiona...	OMIM:114290
Gaucher Disease	Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty	ORPHA:355
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Hydrocephalus, Meningocele, Obesity, Occipital myelomeningocele, Int...	ORPHA:567
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Short stature	ORPHA:3042
Costello Syndrome	Hydrocephalus, Failure to thrive, Short stature, Ventriculomegaly	OMIM:218040
Meningioma	Brain stem compression, Hydrocephalus, Obesity	ORPHA:2495
Pseudoaminopterin Syndrome	Hydrocephalus, Short stature	ORPHA:221120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly	OMIM:253280
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Hydrocephalus	ORPHA:667
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Hydrocephalus, Small for gestational age	OMIM:208150
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Delayed puberty	ORPHA:95699
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi...	ORPHA:363700
Yunis-Varon Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Severe failure to thrive, Agenesis of...	ORPHA:3472
Peters Plus Syndrome	Short stature, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Disproportionate short-li...	ORPHA:709
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Fontaine Progeroid Syndrome	Small for gestational age, Short stature, Hydrocephalus, Intrauterine growth retardation, Failure...	OMIM:612289
Wiedemann-Rautenstrauch Syndrome	Short stature, Small for gestational age, Hydrocephalus, Intrauterine growth retardation, Failure...	OMIM:264090
Baller-Gerold Syndrome	Severe short stature, Short stature, Hydrocephalus, Severe intrauterine growth retardation, Spina...	OMIM:218600
Peters-Plus Syndrome	Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, D...	OMIM:261540
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m...	ORPHA:286
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Focal Dermal Hypoplasia	Short stature, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Hydrocephalus	OMIM:219000
Wiedemann-Rautenstrauch Syndrome	Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Severe intrauterine grow...	ORPHA:3455
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca	ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Alopecia of scalp	OMIM:130050
Tetrasomy 9P	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Hydrocephalus, Short stature, Spina bifida	OMIM:304120
Townes-Brocks Syndrome 1	Hydrocephalus, Small for gestational age, Holoprosencephaly	OMIM:107480
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrauterine growth re...	OMIM:268300
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Coffin-Siris Syndrome	Hepatoblastoma, Papillary thyroid carcinoma	ORPHA:1465
Coffin-Siris Syndrome 3	Intrauterine growth retardation, Short stature, Dandy-Walker malformation	OMIM:614608

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 Smarcb1

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 Smarcb1.

No publications found that use IMPC mice or data for Smarcb1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Smarcb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Smarcb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Smarcb1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Smarcb1 MGI:1328366

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Eye Morphology

Embryo LacZ

Human diseases caused by Smarcb1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data