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Gene: Cep55 MGI:1921357

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Gene Summary

Name:

centrosomal protein 55

Synonyms:

1200008O12Rik, 2700032M20Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
small uterus		Cep55^em1(IMPC)Tcp	HET		Late adult	0.00
abnormal sternum morphology		Cep55^em1(IMPC)Tcp	HET		Late adult	0.00
preweaning lethality, complete penetrance		Cep55^em1(IMPC)Tcp	HOM		Early adult	0.00
small kidney		Cep55^em1(IMPC)Tcp	HET		Late adult	0.00
preweaning lethality, incomplete penetrance		Cep55^em1(IMPC)Tcp	HOM		Early adult	0.00
abnormal ovary morphology		Cep55^em1(IMPC)Tcp	HET		Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

138 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Histopathology

Images

13 Images

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Eye Morphology

Images Slit Lamp

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Cep55 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 Cep55 (1 diseases)
Human diseases predicted to be associated with Cep55 (1080 diseases)

The table below shows human diseases associated to Cep55 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly		Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Ren...	OMIM:236500

The table below shows human diseases predicted to be associated to Cep55 by phenotypic similarity.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukoencephalopathy With Vanishing White Matter 5		Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ...	OMIM:620315
Chudley-Mccullough Syndrome		Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul...	OMIM:604213
Band Heterotopia		Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:600348
Hydrocephalus, Congenital, 1		Hydrocephalus, Ventriculomegaly	OMIM:236600
Intellectual Developmental Disorder, X-Linked 103		Micropenis, Lateral ventricle dilatation	OMIM:300982
X-Linked Parkinsonism-Spasticity Syndrome		Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Polyrrhinia		Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome		Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology	ORPHA:2703
Peroxisome Biogenesis Disorder 6A (Zellweger)		Neonatal death, Colpocephaly, Renal cyst	OMIM:614870
Chromosome 8Q12.1-Q21.2 Deletion Syndrome		Hydrocephalus	OMIM:600257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6		Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ...	OMIM:613154
Holoprosencephaly 5		Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Pontocerebellar Hypoplasia, Type 12		Cerebellar hypoplasia, Lateral ventricle dilatation	OMIM:618266
Megalencephaly, Autosomal Dominant		Hydrocephalus	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3		Hydrocephalus, Ventriculomegaly	OMIM:615938
Unilateral Hemispheric Polymicrogyria		Lateral ventricle dilatation	ORPHA:101071
Ventriculomegaly With Defects Of The Radius And Kidney		Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation...	OMIM:602200
Leukoencephalopathy, Progressive, With Ovarian Failure		Cerebellar atrophy, Lateral ventricle dilatation	OMIM:615889
Lissencephaly 4		Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development		Hydrocephalus, Agenesis of corpus callosum, Fusion of the left and right thalami, Hypoplasia of t...	OMIM:617542
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy		Occipital encephalocele, Dysgenesis of the cerebellar vermis, Hypospadias, Elongated superior cer...	ORPHA:397715
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2		Hydrocephalus, Ventriculomegaly	OMIM:615937
46,Xy Sex Reversal 3		Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Craniofacial Conodysplasia		Hydrocephalus	ORPHA:85168
Microphthalmia-Brain Atrophy Syndrome		Cerebellar vermis atrophy, Lateral ventricle dilatation, Abnormal pons morphology	ORPHA:77299
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome		Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia	ORPHA:1538
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension		Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Alexander Disease Type I		Hydrocephalus, Abnormal thalamic MRI signal intensity, Cerebellar atrophy	ORPHA:363717
Papilloma Of Choroid Plexus		Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Hydrocephalus, Autosomal Dominant		Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia	OMIM:123155
Joubert Syndrome 3		Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged ...	OMIM:608629
Hypotonia, Infantile, With Psychomotor Retardation		Lateral ventricle dilatation	OMIM:616816
Tubulinopathy-Associated Dysgyria		Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal thalamus morphology, Hypoplasia of the pons	ORPHA:467166
Ovarian Dysgenesis 6		Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Global Developmental Delay With Or Without Impaired Intellectual Development		Hypospadias, Lateral ventricle dilatation	OMIM:618330
Uterine Anomalies		Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Pyruvate Dehydrogenase E1-Alpha Deficiency		Cerebellar cyst, Increased CSF lactate, Abnormal medullary pyramid morphology, Abnormal CSF pyruv...	ORPHA:79243
Polymicrogyria Due To Tubb2B Mutation		Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar atrophy, Lateral ventricle dilata...	ORPHA:300573
Cach Syndrome		T2 hypointense thalamus, Cerebellar vermis atrophy, Cerebellar atrophy, Renal hypoplasia, Lateral...	ORPHA:135
Pineocytoma		Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Hemiparkinsonism-Hemiatrophy Syndrome		Lateral ventricle dilatation	ORPHA:306669
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis		Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callo...	OMIM:618736
Dandy-Walker Syndrome		Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe...	OMIM:220200
Pontocerebellar Hypoplasia, Type 1A		Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the ventral pons, Lateral ventricle ...	OMIM:607596
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy		Lateral ventricle dilatation	OMIM:619972
Intellectual Developmental Disorder, Autosomal Dominant 48		Dysgenesis of the cerebellar vermis, Hypospadias, Cerebellar vermis hypoplasia, Dilated fourth ve...	OMIM:617751
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language		Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Martsolf Syndrome 2		Lateral ventricle dilatation	OMIM:619420
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus		Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
46,Xx Testicular Difference Of Sex Development		Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism		Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619244
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures		Hydrocephalus, Ventriculomegaly	OMIM:618709
Premature Ovarian Failure 3		Hypoplasia of the uterus	OMIM:608996
Neurodevelopmental Disorder With Seizures And Brain Abnormalities		Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Craniosynostosis 6		Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Agenesis of corpus callosum,...	OMIM:616602
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity		Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:617296
Congenital Muscular Dystrophy With Cerebellar Involvement		Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Decreased thalamic volume, Dilated fourt...	ORPHA:370959
Satoyoshi Syndrome		Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Alg13-Cdg		Abnormal lateral ventricle morphology	ORPHA:324422
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities		Lateral ventricle dilatation	OMIM:617668
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity		Lateral ventricle dilatation	OMIM:618890
Alg2-Cdg		Lateral ventricle dilatation	ORPHA:79326
Masa Syndrome		Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Corpus Callosum, Partial Agenesis Of, X-Linked		Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Pa...	OMIM:304100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant		Spina bifida occulta, Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies		Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Abnormal rib morpholog...	OMIM:601076
Pontocerebellar Hypoplasia, Type 14		Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Hypoplasia of the pons	OMIM:619301
Rhombencephalosynapsis		Hydrocephalus, Abnormal dentate nucleus morphology, Abnormal renal morphology, Fusion of the left...	ORPHA:59315
Adams-Oliver Syndrome 2		Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation, Retrocerebellar cyst	OMIM:614219
D-2-Hydroxyglutaric Aciduria 1		Glutaric aciduria, Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Later...	OMIM:600721
Mayer-Rokitansky-Kuster-Hauser Syndrome		Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Gonadoblastoma		Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Atypical Teratoid Rhabdoid Tumor		Hydrocephalus	ORPHA:99966
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts		Ectopic kidney, Neonatal death, Cerebellar hypoplasia, Ventriculomegaly, Cystic renal dysplasia	OMIM:613730
Congenital Disorder Of Glycosylation, Type Iid		Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities		Chiari type I malformation, Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Later...	OMIM:619575
Pontocerebellar Hypoplasia, Type 15		Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Agenesis of corpus...	OMIM:619302
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1		Urinary incontinence, Lateral ventricle dilatation	OMIM:221770
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome		Abnormal lateral ventricle morphology, Cerebellar atrophy, Cerebellar hypoplasia	ORPHA:488635
Severe X-Linked Intellectual Disability, Gustavson Type		Dandy-Walker malformation, Vesicoureteral reflux, Dilated fourth ventricle, Lateral ventricle dil...	ORPHA:3078
Hydrocephalus, Congenital, 3, With Brain Anomalies		Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis...	OMIM:617967
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome		Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated third ventricle, Later...	ORPHA:544488
Paganini-Miozzo Syndrome		Urinary incontinence, Lateral ventricle dilatation	OMIM:301025
Ovarian Dysgenesis 2		Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Beemer Lethal Malformation Syndrome		Hydrocephalus	OMIM:209970
Glutamine Deficiency, Congenital		Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila...	OMIM:610015
Premature Ovarian Failure 7		Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form		Cerebellar vermis hypoplasia, Lateral ventricle dilatation	ORPHA:284417
Methylmalonic Acidemia With Homocystinuria, Type Cbld		Anorexia, Failure to thrive, Pallor	ORPHA:79283
Pseudo-Torch Syndrome 2		Ventriculomegaly, Cerebellar hypoplasia, Abnormal renal corticomedullary differentiation, Lateral...	OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8		Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia	OMIM:614830
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion		Hydrocephalus, Ventriculomegaly, Micropenis, Dilated third ventricle	ORPHA:500055
46,Xy Sex Reversal 7		Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities		Dilated third ventricle	OMIM:619725
Pontocerebellar Hypoplasia, Type 13		Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hypoplasia of the pons, Lateral ventricl...	OMIM:618606
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent		Hydrocephalus	OMIM:266100
Congenital Hydrocephalus		Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Basel-Vanagaite-Smirin-Yosef Syndrome		Hypospadias, Dilated third ventricle, Hydronephrosis, Lateral ventricle dilatation, Agenesis of c...	ORPHA:464738
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome		Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome		Dysplastic corpus callosum, Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria...	ORPHA:488627
Diethylstilbestrol Syndrome		Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4		Lateral ventricle dilatation	OMIM:615716
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia		Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Methylmalonate Semialdehyde Dehydrogenase Deficiency		Elevated urinary aminoisobutyric acid, Beta-alaninuria, Elevated urinary 3-hydroxyisobutyric acid...	OMIM:614105
Testicular Agenesis		Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome		Hydrocephalus	ORPHA:1008
Polycystic Kidney Disease 7		Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Craniotelencephalic Dysplasia		Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:1528
Ovarian Dysgenesis 7		Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5		Cerebellar cyst, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the pons, Cerebellar dys...	OMIM:613153
Autosomal Recessive Spastic Paraplegia Type 66		Cerebellar hypoplasia, Colpocephaly	ORPHA:401815
Oculoskeletodental Syndrome		Dysplastic corpus callosum, Nephrocalcinosis, Abnormal thalamus morphology	ORPHA:557003
Perrault Syndrome 3		Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Gómez-López-Hernández Syndrome		Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology	ORPHA:1532
Central Neurocytoma		Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome		Cerebellar atrophy, Urinary incontinence, Dilated third ventricle, Abnormal cerebrospinal fluid m...	ORPHA:314404
Perrault Syndrome 6		Streak ovary, Hypoplasia of the uterus	OMIM:617565
Asparagine Synthetase Deficiency		Cerebellar vermis hypoplasia, Dilated third ventricle, Dilated fourth ventricle, Hypoplasia of th...	OMIM:615574
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation		Normal pressure hydrocephalus, Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Latera...	ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 56		Pontocerebellar atrophy, Lateral ventricle dilatation	OMIM:617854
Fried Syndrome		Hydrocephalus, Abnormal cerebellum morphology	ORPHA:85335
Glutaric Acidemia I		Hydrocephalus, Glutaric aciduria, Lateral ventricle dilatation, Ketonuria	OMIM:231670
Premature Ovarian Failure 13		Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Craniofacial Dyssynostosis With Short Stature		Hypospadias, Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculome...	OMIM:218350
Edinburgh Malformation Syndrome		Hydrocephalus	OMIM:129850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome		Renal hypoplasia, Lateral ventricle dilatation, Umbilical hernia	OMIM:618914
1Q21.1 Microduplication Syndrome		Hydrocephalus, Hypospadias	ORPHA:250994
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome		Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Cerebellar malformation	ORPHA:324416
Ovarian Dysgenesis 5		Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Bilateral Generalized Polymicrogyria		Lateral ventricle dilatation	ORPHA:208447
X-Linked Intellectual Disability, Wilson Type		Lateral ventricle dilatation	ORPHA:85290
Premature Ovarian Failure 6		Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Microcephaly, Epilepsy, And Diabetes Syndrome 2		Lateral ventricle dilatation	OMIM:619278
Premature Ovarian Failure 18		Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619203
Giant Axonal Neuropathy 1, Autosomal Recessive		Abnormal cerebellum morphology, Lateral ventricle dilatation	OMIM:256850
Joubert Syndrome 16		Dandy-Walker malformation, Nephronophthisis, Encephalocele, Renal cyst	OMIM:614465
RCAD (renal cysts and diabetes)		Multiple renal cysts	DECIPHER:47
Malan Overgrowth Syndrome		Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Testicular Regression Syndrome		Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Polymicrogyria With Optic Nerve Hypoplasia		Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
2,4-Dienoyl-Coa Reductase Deficiency		Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Cerebellar atrophy, Col...	OMIM:616034
Aicardi Syndrome		Cerebellar vermis hypoplasia, Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventr...	OMIM:304050
Slc35A2-Cdg		Transient nephrotic syndrome, Dandy-Walker malformation, Abnormal renal morphology, Cerebellar at...	ORPHA:356961
Bardet-Biedl Syndrome 10		Renal insufficiency, Renal cyst	OMIM:615987
Ovarian Dysgenesis 9		Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619665
Meckel Syndrome, Type 10		Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Renal cyst, Dilated...	OMIM:614175
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia		Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Primary Lateral Sclerosis, Juvenile		Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Dysphagia, Pallor, Pseudobulba...	OMIM:606353
Hydrolethalus Syndrome 2		Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive		Cerebellar calcifications, Thalamic calcification	OMIM:618824
Nphp3-Related Meckel-Like Syndrome		Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia	ORPHA:3032
Kleeblattschaedel		Hydrocephalus	OMIM:148800
Coach Syndrome 2		Hydrocephalus, Cerebellar vermis hypoplasia, Hyperechogenic kidneys, Agenesis of corpus callosum	OMIM:619111
Acromesomelic Dysplasia 3		Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Satoyoshi Syndrome		Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Basal Ganglia Calcification, Idiopathic, 5		Cerebellar calcifications, Thalamic calcification	OMIM:615483
Pallister-Hall-Like Syndrome		Occipital encephalocele, Chiari type I malformation, Anterior hypopituitarism, Hydrocephalus, Hyp...	OMIM:241800
Nephronophthisis 18		Nephronophthisis, Hydrocephalus, Thickened glomerular basement membrane, Renal tubular atrophy, S...	OMIM:615862
Biemond Syndrome Ii		Hydrocephalus	OMIM:210350
46,Xy Complete Gonadal Dysgenesis		Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Neurodevelopmental Disorder With Seizures And Brain Atrophy		Cerebellar hypoplasia, Decreased thalamic volume	OMIM:619072
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement		Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia	ORPHA:352682
Hepatic Adenomas, Familial		Polycystic ovaries	OMIM:142330
Acalvaria		Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida	ORPHA:945
Meckel Syndrome, Type 4		Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Ag...	OMIM:611134
Seckel Syndrome 7		Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	OMIM:614851
Leukoencephalopathy With Dystonia And Motor Neuropathy		Focal T2 hyperintense thalamic lesion, Azoospermia	OMIM:613724
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		Decreased thalamic volume	OMIM:618646
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis		Hydrocephalus	OMIM:236660
Combined Oxidative Phosphorylation Defect Type 39		Abnormal cerebellum morphology, Cerebellar hypoplasia, Lateral ventricle dilatation, Increased CS...	ORPHA:565624
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive		Cerebellar dentate nucleus calcification, Thalamic calcification	OMIM:618317
Rudiger Syndrome		Bicornuate uterus, Ovarian cyst, Short digit, Ureterovesical stenosis, Micropenis	OMIM:268650
Cog5-Cdg		Urinary incontinence, Neurogenic bladder, Cerebellar atrophy, Lateral ventricle dilatation, Micro...	ORPHA:263487
Dworschak-Punetha Neurodevelopmental Syndrome		Dysplastic corpus callosum, Vesicoureteral reflux, Colpocephaly, Agenesis of corpus callosum, Uni...	OMIM:619955
Mosaic Trisomy 1		Renal cortical cysts, Cerebellar vermis hypoplasia, Renal cyst, Lateral ventricle dilatation, Cer...	ORPHA:1692
Developmental And Epileptic Encephalopathy 36		Hydrocephalus	OMIM:300884
Methylmalonic Acidemia With Homocystinuria		Hydrocephalus	ORPHA:26
Congenital Disorder Of Glycosylation, Type Iig		Hemolytic-uremic syndrome, Hypospadias, Cerebellar vermis hypoplasia, Cerebellar atrophy, Hydrone...	OMIM:611209
Distal 7Q11.23 Microduplication Syndrome		Hydrocephalus, Frontal encephalocele, Chiari malformation	ORPHA:261102
Aicardi-Goutieres Syndrome 4		Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Cerebellar atrophy	OMIM:610333
Bardet-Biedl Syndrome 16		Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615993
Diencephalic Syndrome		Hydrocephalus, Long penis	ORPHA:1672
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity		Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation	OMIM:620371
46,Xx Ovotesticular Difference Of Sex Development		Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Alexander Disease		Hydrocephalus, Abnormal dentate nucleus morphology, Increased CSF protein concentration	OMIM:203450
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly		Micropenis, Lateral ventricle dilatation	OMIM:619847
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome		Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies		Lateral ventricle dilatation	OMIM:619995
Distal Deletion 10Q		Acute kidney injury, Inferior cerebellar vermis hypoplasia, Spina bifida occulta, Vesicoureteral ...	ORPHA:96148
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly		Lateral ventricle dilatation	OMIM:620075
Tetragametic Chimerism		Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Hemangioblastoma		Hydrocephalus, Neurogenic bladder, Cerebellar hemangioblastoma, Cerebellar edema	ORPHA:252054
Coasy Protein-Associated Neurodegeneration		Abnormal thalamus morphology	ORPHA:397725
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities		Hydrocephalus	OMIM:619470
Lissencephaly 5		Hydrocephalus, Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop...	OMIM:615191
Short-Rib Thoracic Dysplasia 21 Without Polydactyly		Dysgenesis of the cerebellar vermis, Hypospadias, Small pituitary gland, Lateral ventricle dilata...	OMIM:619479
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia		Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Joubert Syndrome 18		Occipital encephalocele, Renal cyst, Agenesis of cerebellar vermis, Agenesis of corpus callosum, ...	OMIM:614815
Intellectual Developmental Disorder, Autosomal Recessive 68		Hydrocephalus, Cerebellar atrophy	OMIM:618302
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive		Hydrocephalus, Calcium oxalate nephrolithiasis	OMIM:248000
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type		Glandular hypospadias, Choroid plexus cyst, Abnormal preputium morphology, Lateral ventricle dila...	ORPHA:293725
Renal Dysplasia, Cystic, Susceptibility To		Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Williams-Beuren Region Duplication Syndrome		Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hydrocephalus, ...	OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1		Hydrocephalus, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia	OMIM:613155
Biemond Syndrome Type 2		Hydrocephalus, Hypospadias	ORPHA:141333
Nephronophthisis 20		Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Wars2-Related Combined Oxidative Phosphorylation Defect		Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Lateral ventricle dil...	ORPHA:572798
46,Xy Sex Reversal 11		Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin...	OMIM:273250
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies		Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618577
Frontal Encephalocele		Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome		Hydrocephalus, Abnormal localization of kidney	ORPHA:83473
Meckel Syndrome 12		Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Neural Tube Defects, Susceptibility To		Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:182940
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy		Decreased thalamic volume	OMIM:613668
Omphalocele-Cleft Palate Syndrome, Lethal		Hydrocephalus	OMIM:258320
6P22 Microdeletion Syndrome		Hydrocephalus, Hydronephrosis	ORPHA:251046
Familial Focal Epilepsy With Variable Foci		Polymicrogyria, Pallor, Hemimegalencephaly, Focal cortical dysplasia	ORPHA:98820
Chromosome 6Q24-Q25 Deletion Syndrome		Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
46,Xx Sex Reversal 2		Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius		Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Ventriculomegaly With Cystic Kidney Disease		Tubular luminal dilatation, Hydrocephalus, Hyperechogenic kidneys, Ventriculomegaly, Renal insuff...	OMIM:219730
Fraser-Like Syndrome		Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11		Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia	OMIM:615181
Aicardi-Goutieres Syndrome 9		Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thickened glomerul...	OMIM:619487
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome		Precocious puberty, Polycystic ovaries, Aplasia of the phalanges of the 3rd toe, Hypergonadotropi...	ORPHA:2229
Meckel Syndrome, Type 3		Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Multicystic kidney dysplasia	OMIM:607361
Houge-Janssens Syndrome 2		Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Agenesis of corpus callosum	OMIM:616362
Greig Cephalopolysyndactyly Syndrome		Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia	ORPHA:380
New-Onset Refractory Status Epilepticus		Abnormal thalamic MRI signal intensity, Cerebellar edema, CSF pleocytosis, Increased CSF protein ...	ORPHA:363558
Combined Oxidative Phosphorylation Deficiency 51		Focal T2 hyperintense thalamic lesion	OMIM:619057
Hydrocephalus, Congenital, X-Linked		Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies		Cerebellar hypoplasia, Colpocephaly	OMIM:618731
Chiari Malformation Type Ii		Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ...	OMIM:207950
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia		Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Fusion of the left and right thalami, Dilat...	OMIM:619306
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome		Pallor	ORPHA:46532
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome		Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cerebella...	OMIM:225790
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome		Hydrocephalus, Ventriculomegaly, Nephroblastoma	OMIM:602501
Müllerian Aplasia And Hyperandrogenism		Hypoplasia of the uterus, Abnormality of the ovary, Brachydactyly, Abnormal vagina morphology	ORPHA:247768
Cortical Dysplasia, Complex, With Other Brain Malformations 9		Hydrocephalus, Cerebellar hypoplasia	OMIM:618174
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2		Failure to thrive, Pallor, Dysphagia	OMIM:613561
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2		T2 hypointense thalamus	OMIM:618193
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome		Ventriculomegaly, Multicystic kidney dysplasia, Renal cyst, Meningocele	ORPHA:2031
Infundibulopelvic Dysgenesis		Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Dandy-Walker Malformation With Postaxial Polydactyly		Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Partial absence of cerebellar...	OMIM:220220
Cyclic Vomiting Syndrome		Microcephaly, Pallor, Anorexia, Attention deficit hyperactivity disorder	OMIM:500007
Peripheral Cone Dystrophy		Pallor	OMIM:609021
Fanconi Anemia, Complementation Group I		Optic nerve hypoplasia, Vesicoureteral reflux, Decreased body weight, Microcephaly, Renal hypopla...	OMIM:609053
Orofaciodigital Syndrome Type 14		Epispadias, Dandy-Walker malformation, Dilated third ventricle, Dilated fourth ventricle, Partial...	ORPHA:434179
Vacterl Association With Hydrocephalus		Aqueductal stenosis, Renal hypoplasia, Stillbirth, Hydrocephalus	OMIM:276950
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome		Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Umbilical hernia, Chiari malformati...	ORPHA:171839
Trisomy 1Q		Congenital megaureter, Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, Cerebellar hyp...	ORPHA:261344
Fowler Urethral Sphincter Dysfunction Syndrome		Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Leigh Syndrome		3-Methylglutaconic aciduria, Abnormal thalamic MRI signal intensity, Generalized aminoaciduria, R...	ORPHA:506
Lissencephaly Type 1 Due To Doublecortin Gene Mutation		Lateral ventricle dilatation	ORPHA:2148
Greig Cephalopolysyndactyly Syndrome		Hypospadias, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:175700
Plasminogen Deficiency, Type I		Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Cerebellar hypoplasia, Vent...	OMIM:217090
Papillary Tumor Of The Pineal Region		Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related		Lateral ventricle dilatation	OMIM:607485
Cone-Rod Dystrophy 11		Pallor	OMIM:610381
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly		Nephronophthisis, Hydrocephalus, Cerebellar vermis hypoplasia, Chronic kidney disease, Ventriculo...	OMIM:615630
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies		Decreased response to growth hormone stimulation test, Renal cyst, Colpocephaly, Agenesis of corp...	OMIM:617260
Renal Hypodysplasia/Aplasia 3		Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Joubert Syndrome 2		Nephronophthisis, Dysgenesis of the cerebellar vermis, Encephalocele, Elongated superior cerebell...	OMIM:608091
X-Linked Cerebral-Cerebellar-Coloboma Syndrome		Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Agenesis of cerebellar ve...	ORPHA:163961
Carnitine Palmitoyltransferase Ii Deficiency		Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red...	ORPHA:157
1Q44 Microdeletion Syndrome		Hydrocephalus, Vesicoureteral reflux, Agenesis of corpus callosum, Ventriculomegaly, Horseshoe ki...	ORPHA:238769
Microcephaly 20, Primary, Autosomal Recessive		Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Amed Syndrome, Digenic		Hypoplasia of the uterus, Long thumb	OMIM:619151
Hyperinsulinism Due To Hnf1A Deficiency		Large for gestational age, Agitation, Polyphagia, Pallor, Small for gestational age	ORPHA:324575
Joubert Syndrome 14		Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasi...	OMIM:614424
Hydrocephalus-Obesity-Hypogonadism Syndrome		Hydrocephalus, Azoospermia	ORPHA:2183
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly		Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Ren...	OMIM:236500
Spinocerebellar Ataxia With Epilepsy		Focal T2 hyperintense thalamic lesion	ORPHA:254881
Acute Peripheral Arterial Occlusion		Pallor	ORPHA:90064
Oculocerebral Hypopigmentation Syndrome, Preus Type		Hydrocephalus, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum, Abnormal re...	ORPHA:2720
Gabriele-De Vries Syndrome		Ureteropelvic junction obstruction, Hydronephrosis, Lateral ventricle dilatation	OMIM:617557
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome		Pallor, Increased body weight, Agitation	ORPHA:276608
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome		Renal hypoplasia/aplasia, Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon, Ap...	ORPHA:2570
Perrault Syndrome 4		Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Renal And Mullerian Duct Hypoplasia		Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Normosmic Congenital Hypogonadotropic Hypogonadism		Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
46,Xy Sex Reversal 4		Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure...	OMIM:154230
Congenital Toxoplasmosis		Hydrocephalus, Ventriculomegaly	ORPHA:858
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form		Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myoglobinuria, Polycysti...	ORPHA:228308
Meckel Syndrome, Type 2		Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Renal cyst	OMIM:603194
Melanosis, Neurocutaneous		Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Bresek Syndrome		Hydrocephalus, Vesicoureteral reflux, Hypoplasia of the bladder, Renal hypoplasia, Neonatal death...	ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13		Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebellar hemisp...	OMIM:615287
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly		Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Micropenis, Lateral ventricle dilatation	OMIM:263520
Mosaic Variegated Aneuploidy Syndrome 1		Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation, Renal cyst, ...	OMIM:257300
Hydrocephalus, Congenital, 4		Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Hyperinsulinism Due To Ucp2 Deficiency		Large for gestational age, Pallor, Agitation, Polyphagia	ORPHA:276556
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type		T2 hypointense thalamus, Cerebellar atrophy	ORPHA:1947
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia		Anorexia, Isothenuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular acidosis, Pallor	OMIM:611590
Leydig Cell Hypoplasia		Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Acute Myelomonocytic Leukemia		Pallor, Weight loss	ORPHA:517
Diabetic Embryopathy		Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalus, Hydronephrosis, Spinal dysraphism,...	ORPHA:1926
Autosomal Recessive Spastic Paraplegia Type 11		Lateral ventricle dilatation, Hypothalamic atrophy	ORPHA:2822
Hanac Syndrome		Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Holoprosencephaly 7		Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitarism, Fusion ...	OMIM:610828
Panhypophysitis		Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri...	ORPHA:95513
Meckel Syndrome 13		Polycystic kidney dysplasia, Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Juvenile Neuronal Ceroid Lipofuscinosis		Focal T2 hyperintense thalamic lesion, Cerebellar atrophy	ORPHA:79264
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome		Abnormality of the kidney, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia...	ORPHA:459061
Fumarase Deficiency		Cerebral atrophy, Lissencephaly, Polymicrogyria, Relative macrocephaly, Open operculum, Microceph...	OMIM:606812
Femoral-Facial Syndrome		Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne...	ORPHA:1988
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities		Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Ovarian Fibroma		Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Linear Skin Defects With Multiple Congenital Anomalies 3		Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Weaver Syndrome		Ventriculomegaly, Cerebellar hypoplasia, Lateral ventricle dilatation, Umbilical hernia	OMIM:277590
Neurocardiofaciodigital Syndrome		Dilated fourth ventricle, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Lateral ventricle ...	OMIM:619869
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis		Hydrocephalus, Umbilical hernia	ORPHA:1516
Polycystic Kidney Disease 5		Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull...	OMIM:617610
Crouzon Syndrome With Acanthosis Nigricans		Hydrocephalus	OMIM:612247
Hydrocephalus, Normal-Pressure, 1		Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Rhyns Syndrome		Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Familial Acute Necrotizing Encephalopathy		Abnormal thalamus morphology, Increased CSF protein concentration	ORPHA:88619
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency		Large for gestational age, Pallor, Agitation, Polyphagia	ORPHA:276575
Adenohypophysitis		Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri...	ORPHA:95512
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect		Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Cerebellar atrophy	ORPHA:485421
Den Hoed-De Boer-Voisin Syndrome		Recurrent urinary tract infections, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619229
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency		Large for gestational age, Pallor, Agitation, Polyphagia	ORPHA:276580
Dermatitis, Atopic		Pallor, Facial erythema, Dry skin	OMIM:603165
Axial Mesodermal Dysplasia Spectrum		Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, A...	ORPHA:1834
Thanatophoric Dysplasia Type 2		Abnormality of the kidney, Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency		Abnormal thalamus morphology	ORPHA:404440
Tay-Sachs Disease		Ventriculomegaly, Abnormal thalamic MRI signal intensity, Cerebellar atrophy	ORPHA:845
Muscle-Eye-Brain Disease		Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele	ORPHA:588
Cortical Dysplasia, Complex, With Other Brain Malformations 11		Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620156
Infantile Sialic Acid Storage Disease		Nephrotic syndrome, Hydrocephalus	OMIM:269920
Noonan Syndrome 14		Lateral ventricle dilatation	OMIM:619745
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome		Lateral ventricle dilatation	ORPHA:457279
Meckel Syndrome, Type 9		Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Benign Paroxysmal Torticollis Of Infancy		Pallor	ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome		Pallor	ORPHA:2786
Hydatidiform Mole		Enlarged uterus	ORPHA:99927
Bardet-Biedl Syndrome 4		Abnormality of the kidney, Renal cyst	OMIM:615982
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity		Hydrocephalus	OMIM:615599
Osteopetrosis, Autosomal Recessive 7		Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
47,Xyy Syndrome		Dysgenesis of the cerebellar vermis, Hypospadias, Azoospermia, Hydrocephalus, Oligozoospermia, Ce...	ORPHA:8
Estrogen Resistance		Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome		Hydrocephalus	ORPHA:397951
Radial Aplasia, X-Linked		Hydrocephalus, Penile hypospadias	OMIM:312190
Estrogen Resistance Syndrome		Breast hypoplasia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Increased circul...	ORPHA:785
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome		Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio...	ORPHA:90301
Congenital Muscular Dystrophy, Fukuyama Type		Hydrocephalus, Ventriculomegaly	ORPHA:272
Nasu-Hakola Disease		Hydrocephalus, Ventriculomegaly	ORPHA:2770
Meckel Syndrome, Type 6		Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Hepatic ...	OMIM:612284
Hydranencephaly		Ventriculomegaly, Atrophic pituitary gland, Thalamic edema, Dysgenesis of the thalamus	ORPHA:2177
Intellectual Developmental Disorder, X-Linked, Syndromic 32		Hydrocephalus	OMIM:300886
Ritscher-Schinzel Syndrome 1		Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m...	OMIM:220210
Functioning Gonadotropic Adenoma		Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Anter...	ORPHA:91348
Indomethacin Embryofetopathy		Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Japanese Encephalitis		Focal T2 hyperintense thalamic lesion, CSF lymphocytic pleiocytosis, Abnormal thalamus morphology...	ORPHA:79139
Renal Tubular Dysgenesis		Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts	ORPHA:3033
Progeria-Short Stature-Pigmented Nevi Syndrome		Abnormal thalamus morphology, Micropenis, Hypospadias	ORPHA:2959
Short-Rib Thoracic Dysplasia 18 With Polydactyly		Hydrocephalus, Polycystic kidney dysplasia, Choroid plexus cyst, Hyperechogenic kidneys, Ventricu...	OMIM:617866
Neuroferritinopathy		Abnormal dentate nucleus morphology, Abnormal thalamic MRI signal intensity, T2 hypointense thala...	ORPHA:157846
Encephalocraniocutaneous Lipomatosis		Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Hydronephrosis, Agenesis of corpus callo...	OMIM:613001
Leber Congenital Amaurosis 14		Pallor	OMIM:613341
Thrombocytopenia-Absent Radius Syndrome		Fibular aplasia, Clinodactyly of the 5th finger, Tibial torsion, Finger syndactyly, Aplasia/Hypop...	ORPHA:3320
Mitochondrial Complex Iv Deficiency, Nuclear Type 3		Increased CSF lactate, Focal T2 hyperintense thalamic lesion	OMIM:619046
Joubert Syndrome With Renal Defect		Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Nephropathy, Agenesis of corpus callo...	ORPHA:220497
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination		Short umbilical cord, Cerebellar atrophy, Lateral ventricle dilatation	OMIM:618367
Bainbridge-Ropers Syndrome		Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation	OMIM:615485
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies		Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Tetrasomy 15Q26		Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 39		Hydrocephalus	OMIM:616521
Fanconi Anemia, Complementation Group R		Hydrocephalus, Pelvic kidney, Chiari type I malformation	OMIM:617244
Nephronophthisis 14		Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
3P25.3 Microdeletion Syndrome		Abnormal thalamus morphology	ORPHA:435638
Crouzon Syndrome-Acanthosis Nigricans Syndrome		Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum	ORPHA:93262
Congenital Anomalies Of Kidney And Urinary Tract 3		Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency		Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Optic Atrophy 1		Pallor	OMIM:165500
Ovarian Fibrothecoma		Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary	ORPHA:314478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2		Cerebellar cyst, Encephalocele, Hydrocephalus, Cerebellar dysplasia, Partial absence of cerebella...	OMIM:613150
Congenital Disorder Of Glycosylation, Type Iil		Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Cerebellar atrophy, Hyperechogeni...	OMIM:614576
Mullerian Aplasia And Hyperandrogenism		Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Thanatophoric Dysplasia		Hydrocephalus, Ventriculomegaly, Abnormality of the kidney	ORPHA:2655
Khan-Khan-Katsanis Syndrome		Ureteral duplication, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Renal cyst, Renal hypo...	OMIM:618460
Temple Syndrome		Hydrocephalus, Decreased response to growth hormone stimulation test	ORPHA:254516
Joubert Syndrome 1		Dysgenesis of the cerebellar vermis, Elongated superior cerebellar peduncle, Cerebellar vermis hy...	OMIM:213300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome		Hypospadias, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Meningioma		Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Hydr...	ORPHA:2495
Thomas Syndrome		Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome		Dandy-Walker malformation, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Ven...	OMIM:220500
Leishmaniasis		Anorexia, Pallor, Skin ulcer, Weight loss	ORPHA:507
Polycystic Liver Disease 1 With Or Without Kidney Cysts		Renal cyst	OMIM:174050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2		Bilateral fetal pyelectasis, Duplicated collecting system, Vesicoureteral reflux, Lateral ventric...	OMIM:300868
Prader-Willi Syndrome Due To Translocation		Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Lateral ven...	ORPHA:177907
Walker-Warburg Syndrome		Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cereb...	ORPHA:899
Arachnoiditis		Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Hemoglobin D Disease		Pallor	ORPHA:90039
Neurooculorenal Syndrome		Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Cerebellar vermis hypoplasia, Bila...	OMIM:620305
Multiple Sulfatase Deficiency		Hydrocephalus, Cerebellar atrophy, Increased CSF protein concentration, Mucopolysacchariduria, Ve...	OMIM:272200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2		Hydrocephalus	ORPHA:99947
Meckel Syndrome, Type 11		Polycystic kidney dysplasia, Occipital encephalocele	OMIM:615397
Microcephalic Osteodysplastic Primordial Dwarfism, Type I		Stillbirth, Hydrocephalus, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal cyst,...	OMIM:210710
Stromme Syndrome		Stillbirth, Hydrocephalus, Cerebellar vermis hypoplasia, Hydronephrosis, Bilateral renal hypoplas...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12		Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:615249
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency		Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Thiamine-Responsive Megaloblastic Anemia Syndrome		Anorexia, Pallor	ORPHA:49827
Acute Disseminated Encephalomyelitis		Abnormal cerebellum morphology, Abnormal thalamic MRI signal intensity, CSF lymphocytic pleiocyto...	ORPHA:83597
Hydrocephaly-Tall Stature-Joint Laxity Syndrome		Hydrocephalus, Umbilical hernia	ORPHA:2181
Dravet Syndrome		Obsessive-compulsive trait, Global brain atrophy, Pallor, Impulsivity	ORPHA:33069
Spontaneous Periodic Hypothermia		Aplasia/Hypoplasia of the corpus callosum, Pallor	ORPHA:29822
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome		Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland	OMIM:614195
Congenital Megacalycosis		Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome		Hydrocephalus, Ventriculomegaly, Chiari malformation, Aplasia/Hypoplasia of the cerebellum	ORPHA:60040
Optic Atrophy 7 With Or Without Auditory Neuropathy		Pallor	OMIM:612989
Fanconi Anemia, Complementation Group D2		Ectopic kidney, Duplicated collecting system, Hydrocephalus, Pelvic kidney, Renal agenesis, Renal...	OMIM:227646
Renal Cysts And Diabetes Syndrome		Hypospadias, Unilateral renal agenesis, Pancreatic hypoplasia, Bicornuate uterus, Nephrolithiasis...	OMIM:137920
Weiss-Kruszka Syndrome		Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Holoprosencephaly 14		Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma...	OMIM:619895
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome		Hypoplasia of penis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Aplasia/Hypopl...	ORPHA:1812
Distal Triplication 15Q		Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Dandy-Walker malformation,...	ORPHA:314588
Developmental And Epileptic Encephalopathy 49		Dysplastic corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformatio...	OMIM:617281
Hereditary Cryohydrocytosis With Reduced Stomatin		Hypoglycorrhachia, Decreased thalamic volume, Communicating hydrocephalus	ORPHA:168577
Breath-Holding Spells		Pallor	OMIM:607578
Kleefstra Syndrome		Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ...	ORPHA:261494
Coach Syndrome 1		Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Aplasia/Hypo...	OMIM:216360
Crouzon Syndrome		Hydrocephalus, Cerebellar hypoplasia, Chiari malformation	ORPHA:207
Non-Functioning Paraganglioma		Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur...	ORPHA:94080
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis		Chiari type I malformation, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum...	OMIM:618476
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome		Multicystic kidney dysplasia	ORPHA:2091
Joubert Syndrome 7		Stage 5 chronic kidney disease, Nephronophthisis, Encephalocele, Renal cyst	OMIM:611560
Popliteal Pterygium Syndrome		Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Small scrotum, Cryptorchidi...	OMIM:119500
Tetraamelia-Multiple Malformations Syndrome		Hydrocephalus, Multicystic kidney dysplasia, Agenesis of corpus callosum	ORPHA:3301
Hepatorenocardiac Degenerative Fibrosis		Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge...	OMIM:619902
Primary Myelofibrosis		Anorexia, Purpura, Petechiae, Cachexia, Ecchymosis, Pallor	ORPHA:824
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities		Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:619833
Kcnq2-Related Epileptic Encephalopathy		Cerebral atrophy, Hypoplasia of the corpus callosum, Facial erythema, Cerebral edema, Abnormal ce...	ORPHA:439218
Marden-Walker Syndrome		Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Czeizel-Losonci Syndrome		Congenital megaureter, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Urete...	ORPHA:2437
Intellectual Developmental Disorder, X-Linked 30		Hydrocephalus	OMIM:300558
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome		Multicystic kidney dysplasia	ORPHA:3270
Aminopterin/Methotrexate Embryofetopathy		Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Apl...	ORPHA:1908
Meckel Syndrome, Type 8		Occipital encephalocele, Enlarged kidney, Encephalocele, Polycystic kidney dysplasia, Hyperechoge...	OMIM:613885
Trisomy 17P		Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, ...	ORPHA:261290
Partial Androgen Insensitivity Syndrome		Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Vacterl Association, X-Linked, With Or Without Hydrocephalus		Enlarged kidney, Hydrocephalus, Hydronephrosis, Neonatal death, Urethral atresia	OMIM:314390
Joubert Syndrome 35		Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Recurrent urinary tract inf...	OMIM:618161
Pseudotrisomy 13 Syndrome		Encephalocele, Hydrocephalus, Renal agenesis, Renal hypoplasia, Holoprosencephaly, Agenesis of co...	OMIM:264480
Scalp-Ear-Nipple Syndrome		Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Renal insufficiency, P...	OMIM:181270
Diaphanospondylodysostosis		Multiple renal cysts, Myelomeningocele	ORPHA:66637
Retinitis Pigmentosa 51		Pallor, Obesity	OMIM:613464
Aromatase Deficiency		Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Combined Oxidative Phosphorylation Deficiency 11		Stillbirth, Renal tubular acidosis, Increased CSF lactate, Renal cyst, Renal hypoplasia, Neonatal...	OMIM:614922
Autosomal Dominant Polycystic Kidney Disease		Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Optic Pathway Glioma		Hydrocephalus	ORPHA:2086
Emanuel Syndrome		Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Renal hypoplasia, Agenesis o...	ORPHA:96170
Houge-Janssens Syndrome 1		Hydrocephalus, Ventriculomegaly	OMIM:616355
Genitopalatocardiac Syndrome		Hydrocephalus, Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Congenital Disorder Of Glycosylation, Type Iim		Cerebellar hypoplasia, Ureteropelvic junction obstruction, Lateral ventricle dilatation, Vesicova...	OMIM:300896
Helsmoortel-Van Der Aa Syndrome		Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i...	OMIM:615873
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency		Cerebral atrophy, Cerebellar hypoplasia, Pallor, Secondary microcephaly	OMIM:613839
Fanconi Anemia, Complementation Group B		Hydrocephalus, Renal agenesis, Cerebellar hypoplasia, Ventriculomegaly, Micropenis	OMIM:300514
L1 Syndrome		Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Spondyloenchondrodysplasia		Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Hem...	ORPHA:1855
X-Linked Sideroblastic Anemia		Pallor	ORPHA:75563
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome		Hydrocephalus	OMIM:601794
Mpdu1-Cdg		Renal cortical cysts, Ventriculomegaly, Decreased response to growth hormone stimulation test	ORPHA:79323
Alkuraya-Kucinskas Syndrome		Hydrocephalus, Dandy-Walker malformation, Cerebellar dysplasia, Cerebellar hypoplasia, Ventriculo...	OMIM:617822
Methylcobalamin Deficiency Type Cble		Hydrocephalus, Ventriculomegaly, Glomerulopathy, Hemolytic-uremic syndrome	ORPHA:2169
Focal Facial Dermal Dysplasia Type Iv		Hydrocephalus	ORPHA:398189
Endocrine-Cerebroosteodysplasia		Enlarged kidney, Hypospadias, Hydrocephalus, Microphallus, Holoprosencephaly, Hyperechogenic kidn...	OMIM:612651
Vitamin K Antagonist Embryofetopathy		Hydrocephalus, Myelomeningocele	ORPHA:1914
Short-Rib Thoracic Dysplasia 14 With Polydactyly		Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia, Occipital ...	OMIM:616546
B4Galt1-Cdg		Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia	ORPHA:79332
Fanconi Anemia, Complementation Group O		Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst	OMIM:613390
Nephronophthisis 16		Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1		Microcephaly, Failure to thrive, Pallor	OMIM:600462
Myoectodermal Gonadal Dysgenesis Syndrome		Gonadal dysgenesis, Unilateral renal agenesis, Bifid distal phalanx of toe, Clitoral hypoplasia, ...	OMIM:618419
Isolated Polycystic Liver Disease		Multiple renal cysts	ORPHA:2924
Hydrocephalus, Congenital, 5, Susceptibility To		Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Krabbe Disease		Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Developmental And Epileptic Encephalopathy 31B		Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Congenital Disorder Of Glycosylation, Type Ia		Cerebellar vermis hypoplasia, Proximal tubulopathy, Cerebellar atrophy, Renal cyst, Nephrotic syn...	OMIM:212065
Intellectual Developmental Disorder, Autosomal Dominant 70		Hydrocephalus, Chiari type I malformation, Hypoplasia of the pons	OMIM:620157
Myopathic Ehlers-Danlos Syndrome		Failure to thrive, Pallor	ORPHA:536516
Combined Oxidative Phosphorylation Defect Type 23		Abnormal thalamic MRI signal intensity	ORPHA:444013
Arima Syndrome		Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ...	OMIM:243910
Peroxisome Biogenesis Disorder 5A (Zellweger)		Hypospadias, Polycystic kidney dysplasia, Cerebellar vermis atrophy, Cerebellar atrophy, Renal cy...	OMIM:614866
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal		Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla...	OMIM:608836
Papilloma Of Choroid Plexus		Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Complete Androgen Insensitivity Syndrome		Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Congenital Hyperinsulinism Due To Hnf4A Deficiency		Large for gestational age, Agitation, Increased body weight, Glycosuria, Proteinuria, Pallor, Ren...	ORPHA:263455
Aase-Smith Syndrome I		Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Oxoglutaric Aciduria		Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Metatropic Dysplasia		Hydrocephalus	ORPHA:2635
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome		Abnormal cerebellar cortex morphology, Abnormal thalamic MRI signal intensity	ORPHA:70595
Combined Oxidative Phosphorylation Defect Type 7		Abnormal thalamic MRI signal intensity	ORPHA:254930
Proximal 16P11.2 Microdeletion Syndrome		Ventriculomegaly, Multicystic kidney dysplasia, Chiari type I malformation	ORPHA:261197
Oculocerebrocutaneous Syndrome		Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia, Ventriculomegaly, Abnormal cereb...	ORPHA:1647
Emanuel Syndrome		Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Recurrent urinary tract infe...	OMIM:609029
Joubert Syndrome With Oculorenal Defect		Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Nephropathy, Renal insufficiency	ORPHA:2318
Noonan Syndrome-Like Disorder With Loose Anagen Hair		Hydrocephalus	ORPHA:2701
Pontocerebellar Hypoplasia, Type 7		Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly, Micropenis	OMIM:614969
3C Syndrome		Hypospadias, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ventr...	ORPHA:7
Peroxisome Biogenesis Disorder 11A (Zellweger)		Multiple renal cysts, Renal cyst	OMIM:614883
Fryns Syndrome		Hypospadias, Dandy-Walker malformation, Vesicoureteral reflux, Hydronephrosis, Agenesis of corpus...	ORPHA:2059
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts		Communicating hydrocephalus	OMIM:600559
Joubert Syndrome With Hepatic Defect		Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Cerebe...	ORPHA:1454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9		Hydrocephalus, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar cyst	OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1		Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Cerebell...	OMIM:236670
Halperin-Birk Syndrome		Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Umbilical hernia, Ventric...	OMIM:618651
Genitopalatocardiac Syndrome		Hypospadias, Renal cyst	OMIM:231060
Papillorenal Syndrome		Hematuria, Horseshoe kidney, Chiari type I malformation, Vesicoureteral reflux, Mild proteinuria,...	OMIM:120330
Hydrolethalus		Hydrocephalus, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Idiopathic Pulmonary Hemosiderosis		Failure to thrive, Pallor, Glomerulonephritis	ORPHA:99931
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5		Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease	OMIM:617056
Edinburgh Malformation Syndrome		Hydrocephalus	ORPHA:1895
Mayer-Rokitansky-Küster-Hauser Syndrome		Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, H...	ORPHA:3109
Pettigrew Syndrome		Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Vent...	OMIM:304340
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease		Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena...	OMIM:263200
Joubert Syndrome 20		Renal cyst	OMIM:614970
Burkitt Lymphoma		Abnormality of the ovary	ORPHA:543
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris		Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts	ORPHA:1166
Triploidy		Hypospadias, Meningocele, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly	ORPHA:3376
Holoprosencephaly-Caudal Dysgenesis Syndrome		Abnormality of the diencephalon, Renal insufficiency, Holoprosencephaly	ORPHA:2165
Keppen-Lubinsky Syndrome		Lateral ventricle dilatation	OMIM:614098
Sandhoff Disease, Infantile Form		Abnormal thalamic MRI signal intensity	ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7		Encephalocele, Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia, Ventriculomegaly,...	OMIM:614643
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency		Pallor, Agitation, Dysphagia, Restlessness	ORPHA:13
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism		Short distal phalanx of finger, Decreased response to growth hormone stimulation test, Hypoplasia...	OMIM:615866
Rheumatic Fever		Anorexia, Hemiballismus, Nephrotic syndrome, Pallor, Erythema	ORPHA:3099
Microphthalmia, Syndromic 9		Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Hypoplasia of...	OMIM:601186
Congenital Heart Block		Pallor, Patent ductus arteriosus	ORPHA:60041
Cystic Hamartoma Of Lung And Kidney		Multicystic kidney dysplasia	ORPHA:2111
Kabuki Syndrome 1		Hydrocephalus, Ureteropelvic junction obstruction, Hydronephrosis, Crossed fused renal ectopia, L...	OMIM:147920
Amelocerebrohypohidrotic Syndrome		Hydrocephalus	ORPHA:1946
Hereditary Folate Malabsorption		Anorexia, Cerebral calcification, Pallor, Failure to thrive	ORPHA:90045
Spondylocostal Dysostosis 4, Autosomal Recessive		Spina bifida occulta, Hydrocephalus, Chiari type II malformation, Neurogenic bladder, Myelomening...	OMIM:613686
Congenital Disorder Of Glycosylation, Type If		Renal cortical cysts, Ventriculomegaly	OMIM:609180
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		Hydrocephalus, Ventriculomegaly	OMIM:603387
Aceruloplasminemia		Abnormal dentate nucleus morphology, Abnormal thalamic MRI signal intensity	ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 65		Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Hydrocephaly-Low Insertion Umbilicus Syndrome		Abnormality of the urinary system, Communicating hydrocephalus	ORPHA:2184
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome		Unilateral renal agenesis, Hydrocephalus, Olivopontocerebellar hypoplasia, Agenesis of corpus cal...	ORPHA:457284
Meckel Syndrome, Type 7		Multiple glomerular cysts, Dandy-Walker malformation, Choroid plexus cyst, Pancreatic cysts, Stag...	OMIM:267010
Beta-Ketothiolase Deficiency		Anorexia, Agitation, Weight loss, Pallor, Oral aversion, Ketonuria	ORPHA:134
Fliedner-Zweier Syndrome		Unilateral renal agenesis, Meningocele, Cerebellar atrophy, Hydronephrosis, Multicystic kidney dy...	OMIM:620511
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type		Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Isolated Posterior Meningocele		Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occipital meningo...	ORPHA:268810
Orofaciodigital Syndrome I		Cerebellar cyst, Hydrocephalus, Polycystic kidney dysplasia, Hypothalamic hamartoma, Myelomeningo...	OMIM:311200
Joubert Syndrome With Ocular Defect		Hydrocephalus, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Encephalocele	ORPHA:220493
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia		Hydrocephalus	OMIM:613330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome		Dysplastic corpus callosum, Unilateral renal agenesis, Cerebellar hemisphere hypoplasia, Progress...	ORPHA:500150
Mosaic Trisomy 9		Hypoplasia of penis, Dandy-Walker malformation, Spina bifida, Hydronephrosis, Multiple renal cyst...	ORPHA:99776
Histiocytoid Cardiomyopathy		Hydrocephalus, Renal cyst, Cerebellar malformation, Agenesis of corpus callosum, Polycystic ovaries	ORPHA:137675
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome		Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Ne...	OMIM:146255
Sporadic Pheochromocytoma/Secreting Paraganglioma		Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Developmental Delay With Or Without Dysmorphic Facies And Autism		Cerebellar vermis hypoplasia, Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, ...	OMIM:618454
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3		Hydroureter, Hypercalciuria, Cerebellar atrophy, Renal cyst, Ureteral stenosis, Nephrocalcinosis,...	OMIM:615398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4		Cerebellar cyst, Encephalocele, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ce...	OMIM:253800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4		Hydrocephalus, Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Craniopharyngioma		Enlarged pituitary gland, Hydrocephalus, Pituitary hypothyroidism, Abnormal hypothalamus morpholo...	ORPHA:54595
Thanatophoric Dysplasia Type 1		Hydrocephalus, Ventriculomegaly, Abnormality of the kidney	ORPHA:1860
Hb Bart'S Hydrops Fetalis		Hydrocephalus	ORPHA:163596
Tenorio Syndrome		Hydrocephalus, Ventriculomegaly, Enuresis	OMIM:616260
Renal Dysplasia		Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Peho Syndrome		Hydrocephalus, Ventriculomegaly, Cerebellar atrophy	ORPHA:2836
Temple Syndrome		Hydrocephalus	OMIM:616222
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome		Unilateral renal agenesis, Communicating hydrocephalus	ORPHA:1064
Myopathy, Centronuclear, X-Linked		Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies		Urethral atresia, Aplasia of the vagina, Thin ribs, Short ribs, Aplasia of the uterus, Missing ri...	OMIM:271520
Verheij Syndrome		Renal agenesis, Renal hypoplasia, Branchial cyst, Renal cyst	OMIM:615583
Chromosome 6Pter-P24 Deletion Syndrome		Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Umbilical hernia	OMIM:612582
Desmosterolosis		Renal hypoplasia/aplasia, Hydrocephalus, Renal agenesis, Agenesis of corpus callosum, Ventriculom...	ORPHA:35107
Prune Belly Syndrome		Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Deafness-Lymphedema-Leukemia Syndrome		Pallor, Weight loss	ORPHA:3226
Fraser Syndrome 3		Stillbirth, Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Ureteral agenesis, Hypo...	OMIM:617667
Beare-Stevenson Cutis Gyrata Syndrome		Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Chiari malformation, Ventriculomegaly	OMIM:123790
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia		Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome		Hydrocephalus	ORPHA:2180
Alagille Syndrome 2		Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
15Q Overgrowth Syndrome		Hydrocephalus, Dandy-Walker malformation, Abnormal renal morphology, Hydronephrosis, Agenesis of ...	ORPHA:314585
Braddock-Carey Syndrome 1		Multicystic kidney dysplasia, Agenesis of corpus callosum	OMIM:619980
Meckel Syndrome, Type 5		Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation		Unilateral renal agenesis, Hypospadias, Posterior pituitary hypoplasia, Pelvic kidney, Renal cyst...	ORPHA:464311
Leptin Receptor Deficiency		Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar...	OMIM:614963
Fg Syndrome Type 1		Hypospadias, Small pituitary gland, Hydrocephalus, Abnormal cerebellum morphology, Umbilical hern...	ORPHA:93932
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe		Bifid sternum	OMIM:140850
Cutis Laxa, Autosomal Recessive, Type Iib		Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency		Glutaric aciduria, Increased level of hippuric acid in urine, Organic aciduria, Microcephaly, 3-M...	OMIM:246450
Arachnoid Cyst		Urinary incontinence, Encephalocele, Hydrocephalus, Urinary bladder sphincter dysfunction, Abnorm...	ORPHA:2356
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia		Hydrocephalus	OMIM:300863
Axenfeld-Rieger Syndrome, Type 2		Hydrocephalus, Hypospadias, Umbilical hernia	OMIM:601499
Peroxisome Biogenesis Disorder 12A (Zellweger)		Hydrocephalus, Renal tubular dysfunction	OMIM:614886
3-Hydroxy-3-Methylglutaric Aciduria		Anorexia, Microcephaly, 3-Methylglutaric aciduria, Weight loss, Pallor, Leukoencephalopathy, Keto...	ORPHA:20
Hypoplasminogenemia		Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Nephrolithiasis	ORPHA:722
Pallister-Hall Syndrome		Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Hypothalamic ...	OMIM:146510
Evans Syndrome		Petechiae, Pallor	ORPHA:1959
Pentalogy Of Cantrell		Anencephaly, Hypospadias, Encephalocele, Hydrocephalus, Renal agenesis, Renal dysplasia	ORPHA:1335
Senior-Loken Syndrome 8		Stage 5 chronic kidney disease, Pallor, Nephronophthisis, Global glomerulosclerosis	OMIM:616307
Methylmalonic Aciduria And Homocystinuria, Cblc Type		Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Neph...	OMIM:277400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency		Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovarian morphology, A...	ORPHA:95699
D-Bifunctional Protein Deficiency		Ventriculomegaly, Cerebellar atrophy, Renal cyst	OMIM:261515
Tuberous Sclerosis Complex		Abnormality of the kidney, Subependymal nodules, Polycystic kidney dysplasia, Renal cell carcinom...	ORPHA:805
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly		Stillbirth, Encephalocele, Dandy-Walker malformation, Renal cyst, Renal hypoplasia, Cerebellar hy...	OMIM:616300
Polysyndactyly With Cardiac Malformation		Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects		Hypospadias, Cerebellar vermis hypoplasia, Colpocephaly, Congenital posterior urethral valve, Pen...	OMIM:620083
Anemia, Congenital Dyserythropoietic, Type Ib		Pallor	OMIM:615631
Pelvis-Shoulder Dysplasia		Hydrocephalus, Hydronephrosis, Spina bifida, Hydranencephaly	ORPHA:2839
Fanconi Anemia, Complementation Group E		Ectopic kidney, Anemic pallor, Microcephaly, Small for gestational age, Prolonged G2 phase of cel...	OMIM:600901
2P15P16.1 Microdeletion Syndrome		Ventriculomegaly, Hydronephrosis, Multicystic kidney dysplasia, Cerebellar hypoplasia	ORPHA:261349
Pituitary Deficiency Due To Rathke Cleft Cysts		Enlarged pituitary gland, Anterior hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Panh...	ORPHA:91350
Albers-Schönberg Osteopetrosis		Hydrocephalus	ORPHA:53
Interstitial Nephritis, Karyomegalic		Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome		Abnormality of the kidney, Abnormal renal cortex morphology, Thalamic hemorrhage	ORPHA:464321
Meckel Syndrome, Type 1		Occipital encephalocele, Large placenta, Anencephaly, Hydrocephalus, Polycystic kidney dysplasia,...	OMIM:249000
Apert Syndrome		Hydrocephalus, Ventriculomegaly, Chiari malformation, Agenesis of corpus callosum	ORPHA:87
3-Methylglutaconic Aciduria Type 7		3-Methylglutaconic aciduria, Cerebellar atrophy, Renal cyst, Nephrocalcinosis, Renal insufficiency	ORPHA:445038
Beta-Thalassemia		Pallor, Skin ulcer	ORPHA:848
Basal Cell Nevus Syndrome 2		Hydrocephalus	OMIM:620343
Renal-Hepatic-Pancreatic Dysplasia 1		Enlarged kidney, Polycystic kidney dysplasia, Dandy-Walker malformation, Pancreatic cysts, Neonat...	OMIM:208540
Renal Hypoplasia, Bilateral		Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Acquired Aneurysmal Subarachnoid Hemorrhage		Hydrocephalus, Increased CSF lactate, Hypopituitarism, Hyperglycorrhachia	ORPHA:90065
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism		Hydrocephalus, Ureteral triplication, Hydronephrosis, Umbilical hernia	OMIM:104350
Say Syndrome		Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities		Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Chronic Bilirubin Encephalopathy		Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy		Abnormal thalamic MRI signal intensity	ORPHA:529799
Childhood Absence Epilepsy		Attention deficit hyperactivity disorder, Pallor, Urinary incontinence, Punding	ORPHA:64280
Medullary cystic kidney disease 2		Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Trisomy X		Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Muenke Syndrome		Hydrocephalus	ORPHA:53271
Dyrk1A-Related Intellectual Disability Syndrome		Unilateral renal agenesis, Hypospadias, Pelvic kidney, Anterior pituitary hypoplasia, Renal cyst,...	ORPHA:464306
Peroxisome Biogenesis Disorder 3A (Zellweger)		Polycystic kidney dysplasia	OMIM:614859
Growth Retardation, Developmental Delay, And Facial Dysmorphism		Hydrocephalus, Dandy-Walker malformation, Umbilical hernia	OMIM:612938
Birt-Hogg-Dube Syndrome 1		Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Biliary, Renal, Neurologic, And Skeletal Syndrome		Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasia, Medullary nephrocalcinosis, Hy...	OMIM:619534
Anemia, Sideroblastic, And Spinocerebellar Ataxia		Abnormal basal ganglia MRI signal intensity, Organic aciduria, Basal ganglia gliosis, Weight loss...	OMIM:301310
Gracile Bone Dysplasia		Hydrocephalus, Micropenis	OMIM:602361
Holoprosencephaly-Postaxial Polydactyly Syndrome		Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Abnorma...	ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 1		Hypospadias, Hydrocephalus, Chordee, Colpocephaly, Agenesis of corpus callosum, Micropenis	OMIM:309801
Hyperparathyroidism 2 With Jaw Tumors		Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Fanconi Anemia, Complementation Group A		Ectopic kidney, Anemic pallor, Microcephaly, Small for gestational age, Prolonged G2 phase of cel...	OMIM:227650
1Q21.1 Microdeletion Syndrome		Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, Vesicoureteral reflux	ORPHA:250989
Isotretinoin Embryopathy-Like Syndrome		Hydrocephalus	OMIM:243440
Plummer-Vinson Syndrome		Pallor, Geophagia, Dysphagia	ORPHA:54028
Mycophenolate Mofetil Embryopathy		Hydrocephalus, Ectopic kidney, Agenesis of corpus callosum	ORPHA:268249
Rabin-Pappas Syndrome		Hydrocephalus, Cerebellar hypoplasia, Chiari type I malformation, Hypoplasia of the pons	OMIM:620155
Griscelli Syndrome		Hydrocephalus, Encephalocele	ORPHA:381
Renal Coloboma Syndrome		Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Thanatophoric Dysplasia, Type I		Hydrocephalus, Neonatal death	OMIM:187600
Smith-Lemli-Opitz Syndrome		Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Chiari type I malformation, Hydr...	OMIM:270400
Glutaryl-Coa Dehydrogenase Deficiency		Glutaric aciduria, Subependymal nodules, Communicating hydrocephalus, Chronic kidney disease, Ven...	ORPHA:25
Trisomy 13		Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Hereditary Pheochromocytoma-Paraganglioma		Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:29072
Thakker-Donnai Syndrome		Hydronephrosis, Agenesis of corpus callosum, Communicating hydrocephalus	ORPHA:1780
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis		Hydrocephalus, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar atrophy	OMIM:618590
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps		Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Lumbar Syndrome		Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Thoracic Dysplasia-Hydrocephalus Syndrome		Communicating hydrocephalus	ORPHA:1861
Cold Agglutinin Disease		Pallor, Abnormal urinary color	ORPHA:56425
Drug-Induced Autoimmune Hemolytic Anemia		Pallor, Abnormal urinary color	ORPHA:90037
Familial Adenomatous Polyposis 4		Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Sepsis In Premature Infants		Purpura, Petechiae, Decreased body weight, Oliguria, Pallor, Reversible renal failure, Small for ...	ORPHA:90051
16Q24.3 Microdeletion Syndrome		Ventriculomegaly, Colpocephaly	ORPHA:261250
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis		Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Bifid scrotum, Arachnodactyly, Ovarian ...	OMIM:201750
Multiple Sulfatase Deficiency		Mucopolysacchariduria, Hydrocephalus	ORPHA:585
Phelan-Mcdermid Syndrome		Polycystic kidney dysplasia, Ventriculomegaly, Vesicoureteral reflux, Abnormality of the kidney	OMIM:606232
Lhermitte-Duclos Disease		Hydrocephalus, Enlarged cerebellum	ORPHA:65285
Polycystic Liver Disease 4 With Or Without Kidney Cysts		Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts		Hepatic cysts, Renal cyst	OMIM:617874
Joubert Syndrome		Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele	ORPHA:475
Cole-Carpenter Syndrome 1		Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease		Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Desmosterolosis		Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum	OMIM:602398
Townes-Brocks Syndrome 2		Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Bardet-Biedl Syndrome 1		Radial deviation of finger, Postaxial hand polydactyly, Abnormality of the ovary, Decreased testi...	OMIM:209900
Genitourinary And/Or Brain Malformation Syndrome		Dysplastic corpus callosum, Hypospadias, Urogenital sinus anomaly, Chordee, Holoprosencephaly, Co...	OMIM:618820
Mixed-Type Autoimmune Hemolytic Anemia		Pallor, Abnormal urinary color	ORPHA:90036
Woodhouse-Sakati Syndrome		Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome		Micropenis, Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Proteus-Like Syndrome		Hydrocephalus, Polycystic ovaries, Communicating hydrocephalus	ORPHA:2969
Large Congenital Melanocytic Nevus		Hydrocephalus	ORPHA:626
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities		Aqueductal stenosis, Elongated superior cerebellar peduncle, Hydrocephalus, Abnormal dentate nucl...	OMIM:619512
Chromosome 1P36 Deletion Syndrome, Distal		Ectopic kidney, Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilata...	OMIM:607872
Thoracoabdominal Syndrome		Hydrocephalus, Renal agenesis, Anencephaly, Hypospadias	OMIM:313850
Dextrocardia		Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Exstrophy-Epispadias Complex		Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Woodhouse-Sakati Syndrome		Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Apert Syndrome		Chiari type I malformation, Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, Cerebella...	OMIM:101200
Congenital Sialidosis Type 2		Hydrocephalus, Abnormality of the kidney, Umbilical hernia	ORPHA:93400
Iniencephaly		Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Pfeiffer Syndrome		Hydrocephalus, Chiari malformation	OMIM:101600
Short-Rib Thoracic Dysplasia 12		Anencephaly, Hydrocephalus, Renal hypoplasia, Neonatal death, Holoprosencephaly, Cystic renal dys...	OMIM:269860
Hyperparathyroidism, Transient Neonatal		Enlarged kidney, Unilateral renal agenesis, Thin ribs, Femoral bowing, Short long bone, Short rib...	OMIM:618188
Congenital Disorder Of Glycosylation, Type Il		Polycystic kidney dysplasia, Cerebellar atrophy	OMIM:608776
Bor Syndrome		Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Lateral Meningocele Syndrome		Chiari type I malformation, Meningocele, Hydrocephalus, Neurogenic bladder, Umbilical hernia	OMIM:130720
Oeis Complex		Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv...	OMIM:258040
Acquired Idiopathic Sideroblastic Anemia		Pallor	ORPHA:75564
Bardet-Biedl Syndrome 17		Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst	OMIM:615994
Imerslund-Gräsbeck Syndrome		Failure to thrive, Pallor, Proteinuria, Weight loss	ORPHA:35858
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome		Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus...	ORPHA:2237
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans		Hydrocephalus, Urinary incontinence, Neonatal death	OMIM:616482
Dural Sinus Malformation		Hydrocephalus, Abnormal cerebellum morphology, Myelopathy	ORPHA:97339
Mucopolysaccharidosis, Type Ii		Hydrocephalus, Dermatan sulfate excretion in urine, Umbilical hernia, Urinary glycosaminoglycan e...	OMIM:309900
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome		Chiari type I malformation, Horseshoe kidney, Renal cyst	ORPHA:166035
Fanconi Anemia, Complementation Group C		Ectopic kidney, Anemic pallor, Microcephaly, Small for gestational age, Prolonged G2 phase of cel...	OMIM:227645
Mowat-Wilson Syndrome Due To Monosomy 2Q22		Enlarged cerebellum, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Chiari type...	ORPHA:261537
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency		Hydrocephalus, Ventriculomegaly, Homocystinuria	ORPHA:395
Mosaic Variegated Aneuploidy Syndrome		Dandy-Walker malformation, Holoprosencephaly, Nephroblastoma, Ventriculomegaly, Multicystic kidne...	ORPHA:1052
Pfeiffer Syndrome Type 2		Hydrocephalus, Aqueductal stenosis, Chiari malformation	ORPHA:93259
Alternating Hemiplegia Of Childhood		Anorexia, Oral-pharyngeal dysphagia, Impulsivity, Failure to thrive, Dysphagia, Pallor, Aggressiv...	ORPHA:2131
Lowry-Maclean Syndrome		Hydrocephalus, Hypospadias	ORPHA:2409
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency		Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart		Hypospadias, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Renal cyst, Hypoplasia of the p...	OMIM:616975
Otopalatodigital Syndrome Type 2		Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Ureteral obstruction, Hydronephrosis...	ORPHA:90652
Multiple Acyl-Coa Dehydrogenase Deficiency		Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Vacterl/Vater Association		Occipital encephalocele, Ectopic kidney, Hypospadias, Hypoplasia of penis, Anencephaly, Renal age...	ORPHA:887
Duplication Of The Pituitary Gland		Agenesis of corpus callosum, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog...	ORPHA:314621
Branchiootorenal Syndrome 1		Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
Monosomy 9Q22.3		Hydrocephalus, Chiari malformation, Umbilical hernia, Nephroblastoma, Ventriculomegaly	ORPHA:77301
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly		Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal dysplasia, Renal cyst, Umbilic...	OMIM:266920
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome		Enlarged cerebellum, Chordee, Colpocephaly, Hypospadias	ORPHA:477993
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1		Hydrocephalus, Abnormal renal morphology	OMIM:239300
Beemer-Ertbruggen Syndrome		Communicating hydrocephalus	ORPHA:1237
Tetrasomy 5P		Hydrocephalus, Cerebellar hypoplasia	ORPHA:3309
Bardet-Biedl Syndrome 6		Hypospadias, Renal cyst	OMIM:605231
Chromosome 17Q12 Deletion Syndrome		Stage 5 chronic kidney disease, Unilateral renal agenesis, Aplasia of the vagina, Upper limb unde...	OMIM:614527
Cole-Carpenter Syndrome 2		Hydrocephalus	OMIM:616294
Meckel Syndrome		Ureteral duplication, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Pancr...	ORPHA:564
Bickerstaff Brainstem Encephalitis		Abnormal thalamic MRI signal intensity, CSF pleocytosis, Increased CSF protein concentration	ORPHA:79138
Phocomelia, Schinzel Type		Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Hypopl...	ORPHA:2879
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type		Hypoplasia of penis, Dandy-Walker malformation, Renal cyst, Renal hypoplasia, Urethrovaginal fist...	ORPHA:93271
Axial Osteomalacia		Renal cyst	OMIM:109130
Osteootohepatoenteric Syndrome		Hydrocephalus, Grade II vesicoureteral reflux, Proteinuria	OMIM:619377
Osteopetrosis, Autosomal Recessive 2		Hydrocephalus	OMIM:259710
Hajdu-Cheney Syndrome		Hypospadias, Hydrocephalus, Polycystic kidney dysplasia, Renal cyst, Umbilical hernia	OMIM:102500
Hec Syndrome		Communicating hydrocephalus	ORPHA:2119
Anemia, Hypochromic Microcytic, With Iron Overload 2		Pallor, Azoospermia	OMIM:615234
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis		Hydrocephalus, Abnormal renal morphology	OMIM:207410
Pearson Marrow-Pancreas Syndrome		Anorexia, Small for gestational age, Hypercalciuria, Failure to thrive, 3-Methylglutaric aciduria...	OMIM:557000
Mirage Syndrome		Hydrocephalus, Recurrent urinary tract infections, Hypospadias, Microphallus	OMIM:617053
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly		Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst	OMIM:614091
Lymphangioleiomyomatosis		Renal neoplasm, Hematuria, Hydrocephalus, Multiple renal cysts, Abnormal urinary color, Renal ang...	ORPHA:538
Fryns Syndrome		Stillbirth, Ureteral duplication, Hypospadias, Dandy-Walker malformation, Renal cyst, Renal agene...	OMIM:229850
Fanconi Anemia, Complementation Group L		Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Cerebellar hypoplasia, Micropenis	OMIM:614083
Ciliary Dyskinesia, Primary, 43		Noncommunicating hydrocephalus	OMIM:618699
Sacral Defect With Anterior Meningocele		Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel...	OMIM:600145
Vacterl With Hydrocephalus		Aqueductal stenosis, Renal hypoplasia/aplasia, Hydrocephalus, Spina bifida, Renal agenesis	ORPHA:3412
H Syndrome		Abnormality of the kidney, Enlarged kidney, Azoospermia, Hydrocephalus, Micropenis	ORPHA:168569
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease		Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy...	OMIM:613095
Kabuki Syndrome		Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydroce...	ORPHA:2322
Waldenström Macroglobulinemia		Anorexia, Purpura, Renal insufficiency, Pallor	ORPHA:33226
Dyssegmental Dysplasia, Rolland-Desbuquois Type		Hydrocephalus, Encephalocele	OMIM:224400
Primary Ciliary Dyskinesia		Hydrocephalus, Ventriculomegaly	ORPHA:244
Neonatal Lupus Erythematosus		Hydrocephalus	ORPHA:398124
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly		Enlarged kidney, Cerebellar cyst, Polycystic kidney dysplasia, Agenesis of corpus callosum, Renal...	OMIM:613091
Blepharophimosis, Ptosis, And Epicanthus Inversus		Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation		Enlarged cerebellum, Urinary incontinence, Cerebellar hypoplasia, Hypospadias, Multicystic kidney...	ORPHA:261552
Degcags Syndrome		Abnormal renal medulla morphology, Hypospadias, Oral-pharyngeal dysphagia, Microcephaly, Renal hy...	OMIM:619488
Schinzel-Giedion Syndrome		Neural tube defect, Hypospadias, Chiari type I malformation, Choroid plexus cyst, Nephrolithiasis...	ORPHA:798
Irida Syndrome		Pallor	ORPHA:209981
Bent Bone Dysplasia Syndrome 2		Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae...	OMIM:620076
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay		Nephrocalcinosis, Aminoaciduria, Communicating hydrocephalus	OMIM:616084
Congenital Disorder Of Glycosylation, Type Ib		Proximal tubulopathy, Renal cyst	OMIM:602579
Autoimmune Hemolytic Anemia, Warm Type		Pallor, Abnormal urinary color	ORPHA:90033
Medulloblastoma		Hydrocephalus, Cerebellar calcifications, Cerebellar cyst	ORPHA:616
Acrodysostosis 1 With Or Without Hormone Resistance		Hydrocephalus, Unilateral renal agenesis, Decreased growth hormone responses to growth hormone-re...	OMIM:101800
Odontochondrodysplasia 1		Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Knobloch Syndrome		Hydrocephalus, Occipital encephalocele, Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Monosomy 18Q		Hydrocephalus, Cerebellar hypoplasia, Secondary growth hormone deficiency, Micropenis	ORPHA:1600
Achondroplasia		Hydrocephalus	ORPHA:15
Trisomy 20P		Abnormality of the kidney, Hypospadias, Abnormal localization of kidney, Abnormality of the urete...	ORPHA:261318
Intellectual Developmental Disorder, X-Linked 112		Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Trisomy 8P		Hydrocephalus, Dandy-Walker malformation, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Ag...	ORPHA:264450
American Trypanosomiasis		Pallor	ORPHA:3386
Neuromuscular Oculoauditory Syndrome		Reduced renal corticomedullary differentiation, Multiple renal cysts, Agenesis of corpus callosum	OMIM:618733
Gillessen-Kaesbach-Nishimura Syndrome		Polycystic kidney dysplasia	OMIM:263210
Cerebral Visual Impairment		Hydrocephalus	ORPHA:447788
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease		Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Osteopathia Striata With Cranial Sclerosis		Hydrocephalus, Multicystic kidney dysplasia, Partial agenesis of the corpus callosum, Spina bifid...	OMIM:300373
Nabais Sa-De Vries Syndrome, Type 2		Multicystic kidney dysplasia	OMIM:618829
Jacobsen Syndrome		Spina bifida, Hydronephrosis, Agenesis of corpus callosum, Ventriculomegaly, Multicystic kidney d...	ORPHA:2308
Holoprosencephaly 9		Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Alobar holopr...	OMIM:610829
Crouzon Syndrome		Hydrocephalus	OMIM:123500
Cerebrooculonasal Syndrome		Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Ventriculo...	OMIM:605627
Diaphanospondylodysostosis		Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Amoebiasis Due To Free-Living Amoebae		CSF lymphocytic pleiocytosis, Increased CSF protein concentration, Abnormal medulla oblongata mor...	ORPHA:68
6Q Terminal Deletion Syndrome		Cerebellar hypoplasia, Phimosis, Colpocephaly, Hypospadias	ORPHA:75857
Osteopetrosis, Autosomal Recessive 1		Hydrocephalus	OMIM:259700
Dyssegmental Dysplasia, Silverman-Handmaker Type		Hydrocephalus, Encephalocele	ORPHA:1865
Congenital Myopathy 22A, Classic		Normal pressure hydrocephalus, Neonatal death	OMIM:620351
Koolen-De Vries Syndrome Due To A Point Mutation		Decreased response to growth hormone stimulation test, Hypospadias, Chiari type I malformation, H...	ORPHA:363965
17Q21.31 Microdeletion Syndrome		Decreased response to growth hormone stimulation test, Hypospadias, Chiari type I malformation, H...	ORPHA:363958
Ulna And Fibula, Absence Of, With Severe Limb Deficiency		Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Beta-Thalassemia Intermedia		Proximal tubulopathy, Pallor, Skin ulcer	ORPHA:231222
Peters-Plus Syndrome		Bilobate gallbladder, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Shor...	OMIM:261540
Dominant Beta-Thalassemia		Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Thrombocytopenia-Absent Radius Syndrome		Ureteral duplication, Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasi...	OMIM:274000
Choreoacanthocytosis		Lateral ventricle dilatation	ORPHA:2388
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency		Failure to thrive, Pallor	ORPHA:331206
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease		Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Fructose-1,6-Bisphosphatase Deficiency		Pallor, Increased urinary glycerol	ORPHA:348
Holoprosencephaly 13, X-Linked		Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Holoprosencephaly		Encephalocele, Hypoplasia of penis, Hydrocephalus, Branchial anomaly, Dandy-Walker malformation, ...	ORPHA:2162
Raine Syndrome		Hydrocephalus, Hydronephrosis, Hydroureter, Neonatal death	OMIM:259775
7Q11.23 Microduplication Syndrome		Unilateral renal agenesis, Hypospadias, Hydrocephalus, Enuresis, Hydronephrosis, Cerebellar hypop...	ORPHA:96121
Ciliary Dyskinesia, Primary, 1		Absent outer dynein arms, Communicating hydrocephalus	OMIM:244400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency		Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Chromosome 4Q32.1-Q32.2 Triplication Syndrome		Hydrocephalus, Ventriculomegaly	OMIM:613603
Renal-Hepatic-Pancreatic Dysplasia 2		Stillbirth, Enlarged kidney, Hepatic cysts, Cystic renal dysplasia	OMIM:615415
Genitopatellar Syndrome		Hydronephrosis, Multicystic kidney dysplasia, Agenesis of corpus callosum	ORPHA:85201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4		Renal cortical cysts, Ventriculomegaly, Vesicoureteral reflux	OMIM:618548
Mucopolysaccharidosis, Type Vii		Hydrocephalus, Dermatan sulfate excretion in urine, Umbilical hernia, Urinary glycosaminoglycan e...	OMIM:253220
Hurler Syndrome		Hydrocephalus, Dermatan sulfate excretion in urine, Umbilical hernia, Urinary glycosaminoglycan e...	OMIM:607014
Icf Syndrome		Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency		Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Cousin Syndrome		Hydrocephalus, Hydronephrosis, Hydranencephaly	OMIM:260660
Congenital Bile Acid Synthesis Defect Type 2		Dark urine, Renal cyst	ORPHA:79303
Adams-Oliver Syndrome		Hydrocephalus, Encephalocele	ORPHA:974
Structural Heart Defects And Renal Anomalies Syndrome		Renal insufficiency, Partial agenesis of the corpus callosum, Renal cyst	OMIM:617478
Opitz-Kaveggia Syndrome		Hydrocephalus, Hypospadias, Partial agenesis of the corpus callosum, Umbilical hernia	OMIM:305450
Retinitis Pigmentosa 75		Pallor	OMIM:617023
Osteopetrosis, Autosomal Recessive 5		Hydrocephalus, Ventriculomegaly, Stillbirth	OMIM:259720
Absent Radius-Anogenital Anomalies Syndrome		Hydrocephalus	ORPHA:3016
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus		Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Spondyloepimetaphyseal Dysplasia, Krakow Type		Hydrocephalus, Chiari malformation	OMIM:618162
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome		Hypospadias, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Renal cyst, Hypoplasia of t...	ORPHA:495875
Myelofibrosis		Purpura, Pallor	OMIM:254450
Distal Renal Tubular Acidosis		Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome		Hypospadias, Hydrocephalus, Hydronephrosis, Cerebellar hypoplasia, Micropenis	ORPHA:163979
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome		Congenital megaureter, Hypercalciuria, Cerebellar atrophy, Renal cyst, Nephrocalcinosis, Renal dy...	ORPHA:369837
Alexander Disease		Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:58
Sheehan Syndrome		Hyposthenuria, Pallor, Dry skin, Obesity	ORPHA:91355
Tay-Sachs Disease		Pallor	OMIM:272800
Sturge-Weber Syndrome		Hydrocephalus, Chiari malformation	ORPHA:3205
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders		Enlarged kidney, Hydrocephalus, Nephrotic syndrome, Proteinuria, Heavy proteinuria, Urinary glyco...	ORPHA:505248
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome		Hydrocephalus, Umbilical hernia	ORPHA:1555
Nephronophthisis 3		Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Femoral-Facial Syndrome		Abnormal renal collecting system morphology, Encephalocele, Polycystic kidney dysplasia, Spina bi...	OMIM:134780
Esophageal Atresia		Dysphagia, Failure to thrive in infancy, Pallor, Small for gestational age, Oral aversion	ORPHA:1199
Congenital Syphilis		Nephrotic syndrome, Large placenta, CSF pleocytosis, Hydrocephalus	ORPHA:499009
Joubert Syndrome 39		Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele	OMIM:619562
Peutz-Jeghers Syndrome		Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter	ORPHA:2869
Cone-Rod Dystrophy 8		Pallor	OMIM:605549
Meckel Syndrome 14		Polycystic kidney dysplasia, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the lon...	OMIM:619879
Smith-Lemli-Opitz Syndrome		Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Ureteropelvic junction obstruction, H...	ORPHA:818
Marfanoid-Progeroid-Lipodystrophy Syndrome		Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Lethal Omphalocele-Cleft Palate Syndrome		Hydrocephalus	ORPHA:2736
Chromosome 17P13.1 Deletion Syndrome		Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Orofaciodigital Syndrome Type 1		Renal insufficiency, Dandy-Walker malformation, Pancreatic cysts, Hydronephrosis, Proteinuria, Ag...	ORPHA:2750
Mucopolysaccharidosis Type 1		Mucopolysacchariduria, Hydrocephalus	ORPHA:579
Myopathy, Mitochondrial, And Ataxia		Pallor	OMIM:617675
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome		Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Campomelia, Cumming Type		Polycystic kidney dysplasia, Pancreatic cysts	OMIM:211890
Aymé-Gripp Syndrome		Hydrocephalus, Ventriculomegaly, Proteinuria, Chiari type I malformation	ORPHA:1272
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies		Hydrocephalus, Renal hypoplasia, Micropenis, Cerebellar cortical atrophy	OMIM:619321
Cystic Echinococcosis		Hepatic cysts, Membranous nephropathy, Ovarian cyst, Renal cyst	ORPHA:400
Whipple Disease		Hydrocephalus	ORPHA:3452
Beta-Thalassemia Major		Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia		Hydrocephalus, Decreased response to growth hormone stimulation test	OMIM:616007
1P36 Deletion Syndrome		Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis, Agenesis...	ORPHA:1606
Anemia, Sideroblastic, 1		Anemic pallor	OMIM:300751
Tuberous Sclerosis 1		Subependymal nodules, Renal cell carcinoma, Renal angiomyolipoma, Renal cyst	OMIM:191100
Hajdu-Cheney Syndrome		Hypospadias, Hydrocephalus, Multiple renal cysts, Umbilical hernia, Chiari malformation	ORPHA:955
Systemic Mastocytosis With Associated Hematologic Neoplasm		Pallor, Weight loss	ORPHA:98849
Coccidioidomycosis		Abnormality of the kidney, Hydrocephalus, Abnormality of the bladder, CSF lymphocytic pleiocytosi...	ORPHA:228123
Multiple Acyl-Coa Dehydrogenase Deficiency		Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,...	ORPHA:26791
Neuroblastoma		Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho...	ORPHA:635
2Q37 Microdeletion Syndrome		Nephroblastoma, Multicystic kidney dysplasia, Umbilical hernia	ORPHA:1001
Cole-Carpenter Syndrome		Communicating hydrocephalus	ORPHA:2050
Simpson-Golabi-Behmel Syndrome		Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Dandy-Walker malformation, H...	ORPHA:373
Laurin-Sandrow Syndrome		Hydrocephalus	ORPHA:2378
Mend Syndrome		Hydrocephalus, Dandy-Walker malformation, Crossed fused renal ectopia	OMIM:300960
Cardiofaciocutaneous Syndrome 1		Hydrocephalus, Hydronephrosis	OMIM:115150
Tuberous Sclerosis 2		Subependymal nodules, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Absence of renal co...	OMIM:613254
Fanconi Anemia		Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium morphology, Hypospadias, Azoospermia, H...	ORPHA:84
Harrod Syndrome		Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Joubert Syndrome 5		Occipital encephalocele, Nephronophthisis, Aplasia/Hypoplasia of the cerebellar vermis, Renal cor...	OMIM:610188
Joubert Syndrome 21		Occipital encephalocele, Encephalocele, Elongated superior cerebellar peduncle, Renal cyst, Hyper...	OMIM:615636
Congenital Dyserythropoietic Anemia Type Iii		Pallor	ORPHA:98870
Ulbright-Hodes Syndrome		Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Polycysti...	ORPHA:3404
Cardiofaciocutaneous Syndrome		Hydrocephalus, Hydronephrosis	ORPHA:1340
Peters Plus Syndrome		Ureteral duplication, Clinodactyly of the 5th finger, Hypospadias, Multicystic kidney dysplasia, ...	ORPHA:709
Zellweger Syndrome		Hydronephrosis, Multicystic kidney dysplasia, Hypospadias	ORPHA:912
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts		Pallor, Azoospermia	ORPHA:300298
Oculocerebrorenal Syndrome Of Lowe		Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Azoospermia, Hypercalciuria, Nephrol...	ORPHA:534
Campomelia, Cumming Type		Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Pituitary Apoplexy		Pallor, Abnormal caudate nucleus morphology	ORPHA:95613
Heterotaxy, Visceral, 1, X-Linked		Aqueductal stenosis, Enlarged kidney, Hydrocephalus, Myelomeningocele, Renal agenesis, Cerebellar...	OMIM:306955
Shprintzen-Goldberg Craniosynostosis Syndrome		Hydrocephalus, Chiari type I malformation, Umbilical hernia	OMIM:182212
Incontinentia Pigmenti		Microcephaly, Pallor, Erythema	OMIM:308300
Pyruvate Kinase Deficiency Of Red Cells		Pallor	OMIM:266200
Mody		Glycosuria, Nephropathy, Renal cyst, Abnormality of the kidney	ORPHA:552
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2		Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Non-Functioning Pituitary Adenoma		Pallor	ORPHA:91349
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation		Ventriculomegaly, Cerebellar atrophy, Communicating hydrocephalus	OMIM:617011
Microgastria-Limb Reduction Defect Syndrome		Renal hypoplasia/aplasia, Renal agenesis, Crossed fused renal ectopia, Agenesis of corpus callosu...	ORPHA:2538
Lenz-Majewski Hyperostotic Dwarfism		Epispadias, Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Abnormal penis morphology	ORPHA:2658
Cornelia De Lange Syndrome 1		Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ...	OMIM:122470
Hydrolethalus Syndrome 1		Stillbirth, Anencephaly, Hypospadias, Dandy-Walker malformation, Hydronephrosis, Agenesis of corp...	OMIM:236680
Hurler Syndrome		Mucopolysacchariduria, Hydrocephalus	ORPHA:93473
Capillary Malformation-Arteriovenous Malformation		Hydrocephalus, Neurogenic bladder	ORPHA:137667
Branchio-Oculo-Facial Syndrome		Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Shprintzen-Goldberg Syndrome		Chiari malformation, Ventriculomegaly, Communicating hydrocephalus, Umbilical hernia	ORPHA:2462
Peroxisome Biogenesis Disorder 4A (Zellweger)		Renal cyst	OMIM:614862
Glycogen Storage Disease Of Heart, Lethal Congenital		Hydrocephalus, Enlarged kidney	OMIM:261740
Methylmalonic Acidemia With Homocystinuria, Type Cblc		Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Methylmalonic aciduria, Renal insuffici...	ORPHA:79282
Severe Generalized Junctional Epidermolysis Bullosa		Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ...	ORPHA:79404
Hereditary Spherocytosis		Pallor, Skin ulcer	ORPHA:822
Marshall-Smith Syndrome		Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculome...	OMIM:602535
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema		Pallor, Hemoglobinuria	OMIM:194380
Letterer-Siwe Disease		Pallor	OMIM:246400
Retinitis Pigmentosa With Or Without Skeletal Anomalies		Horseshoe kidney, Renal cyst	OMIM:250410
Diamond-Blackfan Anemia		Hypospadias, Microcephaly, Small for gestational age, Pallor, Horseshoe kidney	ORPHA:124
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome		Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Alobar Holoprosencephaly		Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly		Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo...	ORPHA:93926
Lobar Holoprosencephaly		Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo...	ORPHA:93924
Semilobar Holoprosencephaly		Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo...	ORPHA:220386
Dubowitz Syndrome		Hydrocephalus, Hydronephrosis, Hypospadias, Spina bifida occulta	ORPHA:235
Achondroplasia		Hydrocephalus	OMIM:100800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency		Pallor, Hemoglobinuria	OMIM:300908
Gaucher Disease, Type Iiic		Hydrocephalus	OMIM:231005
Xeroderma Pigmentosum-Cockayne Syndrome Complex		Hydrocephalus	ORPHA:220295
Orofaciodigital Syndrome Ii		Hydrocephalus	OMIM:252100
Mucopolysaccharidosis, Type Vi		Umbilical hernia, Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine	OMIM:253200
Mucopolysaccharidosis Type 3		Hydrocephalus, Mucopolysacchariduria, Umbilical hernia, Ventriculomegaly, Urinary glycosaminoglyc...	ORPHA:581
Peroxisome Biogenesis Disorder 2A (Zellweger)		Polycystic kidney dysplasia, Aminoaciduria	OMIM:214110
Jacobsen Syndrome		Hydrocephalus, Holoprosencephaly, Hypospadias	OMIM:147791
Diamond-Blackfan Anemia 1		Microcephaly, Renal hypoplasia, Pallor, Failure to thrive	OMIM:105650
Neurofibromatosis, Type I		Hydrocephalus, Aqueductal stenosis, Renal artery stenosis, Spina bifida	OMIM:162200
Focal Dermal Hypoplasia		Renal hypoplasia/aplasia, Spina bifida, Hydronephrosis, Umbilical hernia, Multicystic kidney dysp...	ORPHA:2092
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis		Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3		Polymicrogyria, Type II lissencephaly, Microcephaly, Pallor, Pachygyria, Cerebellar hypoplasia, A...	OMIM:253280
Townes-Brocks Syndrome 1		Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Urethral valve, Aplasia/Hypoplasia of th...	OMIM:107480
Otofaciocervical Syndrome 2, With T-Cell Deficiency		Renal cyst	OMIM:615560
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism		Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst, Umbilical hernia	OMIM:610199
Transketolase Deficiency		Renal cyst, Increased level of ribose in urine	ORPHA:488618
Tetrasomy 9P		Hydrocephalus, Dandy-Walker malformation, Recurrent urinary tract infections, Oligozoospermia, Hy...	ORPHA:3310
Limb Body Wall Complex		Short umbilical cord, Abnormality of the kidney, Anencephaly, Encephalocele, Spina bifida occulta...	ORPHA:2369
Ifap Syndrome 1, With Or Without Bresheck Syndrome		Unilateral renal agenesis, Hypospadias, Renal dysplasia, Renal agenesis, Olivopontocerebellar atr...	OMIM:308205
Idiopathic Hypereosinophilic Syndrome		Failure to thrive, Pallor, Dysphagia	ORPHA:3260
Cerebrocostomandibular Syndrome		Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Multicystic kidney dysplasia	ORPHA:1393
Limb-Mammary Syndrome		Clinodactyly of the 5th finger, Breast aplasia, Aplasia of the uterus, Oligodactyly, Hypoplastic ...	ORPHA:69085
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease		Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena...	ORPHA:93111
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly		Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency	OMIM:208500
Aregenerative Anemia		Pallor	ORPHA:101096
Elliptocytosis 1		Pallor	OMIM:611804
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome		Ventriculomegaly, Cerebellar hypoplasia, Micropenis, Communicating hydrocephalus	ORPHA:457359
Simpson-Golabi-Behmel Syndrome, Type 1		Enlarged kidney, Hypospadias, Hydrocephalus, Cerebellar vermis hypoplasia, Renal cyst, Hydronephr...	OMIM:312870
Isotretinoin-Like Syndrome		Hydrocephalus	ORPHA:2306
Prolactinoma		Pallor	ORPHA:2965
Trisomy 10P		Dandy-Walker malformation, Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Genitopatellar Syndrome		Multicystic kidney dysplasia, Hydronephrosis, Colpocephaly, Agenesis of corpus callosum, Micropenis	OMIM:606170
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects		Hydrocephalus	OMIM:245600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency		Abnormal lateral ventricle morphology, Abnormality of the kidney, Hypospadias, Chiari type I malf...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations		Abnormal lateral ventricle morphology, Abnormality of the kidney, Hypospadias, Chiari type I malf...	ORPHA:353277
Chilton-Okur-Chung Neurodevelopmental Syndrome		Hypospadias, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, Anterior pituitary...	OMIM:619841
Msh3-Related Attenuated Familial Adenomatous Polyposis		Ovarian dermoid cyst, Renal cyst	ORPHA:480536
22Q11.2 Deletion Syndrome		Hypospadias, Meningocele, Hydrocephalus, Polycystic kidney dysplasia, Vesicoureteral reflux, Spin...	ORPHA:567
Distal 22Q11.2 Microduplication Syndrome		Hydrocephalus, Branchial fistula, Unilateral renal agenesis	ORPHA:261337
Alpha-Mannosidosis, Infantile Form		Recurrent urinary tract infections, Cerebellar atrophy, Communicating hydrocephalus, Umbilical he...	ORPHA:309282
Cockayne Syndrome A		Normal pressure hydrocephalus, Renal insufficiency, Cerebellar atrophy, Proteinuria, Ventriculome...	OMIM:216400
Williams Syndrome		Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Abnormal tubulointerstitial morpholo...	ORPHA:904
Costello Syndrome		Enlarged cerebellum, Chiari type I malformation, Hydrocephalus, Ventriculomegaly, Renal insuffici...	OMIM:218040
Full Nf2-Related Schwannomatosis		Hydrocephalus, Abnormal cerebellum morphology, Myelopathy	ORPHA:637
Alveolar Echinococcosis		Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst	ORPHA:284
Radio-Renal Syndrome		Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3015
Acrofacial Dysostosis 1, Nager Type		Hydrocephalus, Aqueductal stenosis, Unilateral renal agenesis	OMIM:154400
Hyperparathyroidism-Jaw Tumor Syndrome		Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R...	ORPHA:99880
Focal Dermal Hypoplasia		Ureteral duplication, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Hydronephrosis, Bifi...	OMIM:305600
Multicystic Dysplastic Kidney		Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Parathyroid Carcinoma		Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R...	ORPHA:143
Basal Cell Nevus Syndrome 1		Hydrocephalus, Spina bifida	OMIM:109400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome		Hydrocephalus, Renal neoplasm	ORPHA:536467
Refractory Anemia With Excess Blasts		Anemic pallor	ORPHA:86839
Pearson Syndrome		Decreased response to growth hormone stimulation test, Increased CSF lactate, Renal cyst, Glycosu...	ORPHA:699
17Q12 Microdeletion Syndrome		Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:261265
Tetraamelia Syndrome 1		Hydrocephalus, Renal agenesis, Urethral atresia	OMIM:273395
Von Hippel-Lindau Syndrome		Renal cell carcinoma, Cerebellar hemangioblastoma, Multiple renal cysts, Epididymal cyst, Pancrea...	OMIM:193300
Craniofacial Microsomia 1		Occipital encephalocele, Ectopic kidney, Hydrocephalus, Branchial anomaly, Vesicoureteral reflux,...	OMIM:164210
Craniorachischisis		Bifid sternum	ORPHA:63260
Multiple Endocrine Neoplasia Type 2		Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Microphthalmia With Linear Skin Defects Syndrome		Epispadias, Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Abnormal penis morphology	ORPHA:2556
Bardet-Biedl Syndrome 12		Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Peroxisome Biogenesis Disorder 1B		Hyperoxaluria, Renal cyst	OMIM:601539
Beckwith-Wiedemann Syndrome		Enlarged kidney, Renal cortical cysts, Dandy-Walker malformation, Vesicoureteral reflux, Nephroli...	OMIM:130650
Gorlin Syndrome		Hydrocephalus	ORPHA:377
Atelosteogenesis Type I		Multiple renal cysts	ORPHA:1190
Ogden Syndrome		Enlarged kidney, Polycystic kidney dysplasia, Global glomerulosclerosis, Umbilical hernia, Ventri...	OMIM:300855
Kaposiform Lymphangiomatosis		Enlarged kidney, Pancreatic cysts, Multiple renal cysts	ORPHA:464329
Pseudoaminopterin Syndrome		Hydrocephalus, Horseshoe kidney	ORPHA:221120
Thauvin-Robinet-Faivre Syndrome		Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma	OMIM:617107
Infection-Related Hemolytic Uremic Syndrome		Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Pallor, Decreased urine output	ORPHA:544482
Immunodeficiency 96		Multicystic kidney dysplasia	OMIM:619774
Fetal Akinesia Deformation Sequence 1		Short umbilical cord, Stillbirth, Small placenta, Hydrocephalus, Cerebellar hypoplasia	OMIM:208150
Mckusick-Kaufman Syndrome		Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr...	ORPHA:2473
Microphthalmia With Limb Anomalies		Hydrocephalus, Horseshoe kidney	ORPHA:1106
Mend Syndrome		Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency		Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Premature fusion of the radial epip...	ORPHA:90794
Yunis-Varon Syndrome		Hypospadias, Hydrocephalus, Renal artery stenosis, Renovascular hypertension, Agenesis of corpus ...	ORPHA:3472
Fraser Syndrome 1		Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Renal hypo...	OMIM:219000
Turner Syndrome Due To Structural X Chromosome Anomalies		Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Horseshoe kidney, Ectopic kidney,...	ORPHA:99413
Mosaic Monosomy X		Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Horseshoe kidney, Ectopic kidney,...	ORPHA:99228
Monosomy X		Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Horseshoe kidney, Ectopic kidney,...	ORPHA:99226
Turner Syndrome		Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Horseshoe kidney, Ectopic kidney,...	ORPHA:881
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome		Supernumerary nipple, Bifid uterus, Syndactyly, Unilateral brachydactyly, Abnormal reproductive s...	ORPHA:1521
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome		Megacystis, Hydroureter, Multicystic kidney dysplasia, Umbilical hernia	ORPHA:2241
Cornelia De Lange Syndrome		Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Ventriculo...	ORPHA:199
Coffin-Lowry Syndrome		Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Uter...	OMIM:303600
Distal Deletion 12Q		Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Pituitary ade...	ORPHA:96149
Epidermal Nevus Syndrome		Polycystic kidney dysplasia	ORPHA:35125
Hypocalciuric Hypercalcemia, Familial, Type Iii		Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi...	OMIM:600740
Tsh-Secreting Pituitary Adenoma		Pallor, Weight loss	ORPHA:91347
Pagod Syndrome		Renal hypoplasia/aplasia, Encephalocele, Meningocele, Spina bifida, Multicystic kidney dysplasia	ORPHA:991
Campomelic Dysplasia		Hypospadias, Hydrocephalus, Spina bifida, Hydronephrosis, Spinal dysraphism	OMIM:114290
Cryptococcosis		Hydrocephalus	ORPHA:1546
Wiedemann-Rautenstrauch Syndrome		Decreased response to growth hormone stimulation test, Hypospadias, Chiari type I malformation, H...	ORPHA:3455
Cockayne Syndrome B		Normal pressure hydrocephalus, Renal insufficiency, Cerebellar calcifications, Proteinuria, Micro...	OMIM:133540
Fontaine Progeroid Syndrome		Hydrocephalus, Cerebellar vermis hypoplasia, Neonatal death, Umbilical hernia, Cerebellar hypopla...	OMIM:612289
Goodpasture Syndrome		Cylindruria, Proteinuria, Macroscopic hematuria, Weight loss, Pallor, Renal insufficiency, Erythr...	OMIM:233450
Baller-Gerold Syndrome		Abnormality of the kidney, Spina bifida occulta, Hydrocephalus, Agenesis of corpus callosum, Chia...	OMIM:218600
Wolf-Hirschhorn Syndrome		Hydrocephalus, Ventriculomegaly, Hypospadias, Agenesis of corpus callosum	OMIM:194190
Penile Agenesis		Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome		Enlarged kidney, Spina bifida occulta, Bifid ureter, Nephroblastoma, Renal malrotation, Multicyst...	ORPHA:500095
Von Hippel-Lindau Disease		Pallor, Elevated urinary catecholamine level, Multiple renal cysts	ORPHA:892
Osteogenesis Imperfecta		Hypercalciuria, Hydrocephalus, Nephrolithiasis, Noncommunicating hydrocephalus, Umbilical hernia,...	ORPHA:666
Floating-Harbor Syndrome		Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph...	ORPHA:2044
Developmental Delay, Impaired Speech, And Behavioral Abnormalities		Hematuria, Hypospadias, Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate c...	OMIM:619475
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome		Hydrocephalus, Ventriculomegaly, Azoospermia	ORPHA:2072
15q26 overgrowth syndrome		Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Gaucher Disease		Hydrocephalus, Ventriculomegaly, Hematuria, Proteinuria	ORPHA:355
Acrocephalopolydactylous Dysplasia		Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Cardiac-Urogenital Syndrome		Enlarged kidney, Penoscrotal hypospadias, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrotu...	OMIM:618280
Wiedemann-Rautenstrauch Syndrome		Hypospadias, Long penis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, C...	OMIM:264090
Autosomal Recessive Malignant Osteopetrosis		Pallor, Macrocephaly	ORPHA:667
Townes-Brocks Syndrome		Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflu...	ORPHA:857
Beckwith-Wiedemann Syndrome		Enlarged kidney, Ureteral duplication, Large placenta, Congenital megaureter, Hypercalciuria, Ves...	ORPHA:116
Autosomal Recessive Robinow Syndrome		Umbilical hernia, Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis	ORPHA:1507
Pontocerebellar Hypoplasia Type 7		Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Mowat-Wilson Syndrome		Enlarged cerebellum, Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic ki...	ORPHA:2152
Cranioectodermal Dysplasia 2		Renal insufficiency, Renal cyst	OMIM:613610
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion		Hydrocephalus, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Acrorenal-Mandibular Syndrome		Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter	OMIM:200980
Autosomal Recessive Polycystic Kidney Disease		Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Otopalatodigital Syndrome, Type Ii		Stillbirth, Hypospadias, Hydrocephalus, Spina bifida, Hydronephrosis, Umbilical hernia	OMIM:304120
Coffin-Siris Syndrome 12		Enlarged cerebellum, Hypospadias, Noncommunicating hydrocephalus, Chiari malformation, Horseshoe ...	OMIM:619325
Coffin-Siris Syndrome 1		Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Hydroureter, Dislo...	OMIM:135900
Caroli Disease		Polycystic kidney dysplasia	ORPHA:53035
Roberts-Sc Phocomelia Syndrome		Stillbirth, Hypospadias, Long penis, Hydrocephalus, Polycystic kidney dysplasia, Frontal encephal...	OMIM:268300
Cerebrocostomandibular Syndrome		Horseshoe kidney, Ectopic kidney, Renal cyst	OMIM:117650
Spondylocarpotarsal Synostosis Syndrome		Renal cyst	OMIM:272460
Acrofacial Dysostosis, Cincinnati Type		Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ventriculomegaly	OMIM:616462
Attenuated Familial Adenomatous Polyposis		Multiple renal cysts	ORPHA:220460
Robinow Syndrome		Multicystic kidney dysplasia, Hydronephrosis, Umbilical hernia, Webbed penis, Micropenis	ORPHA:97360
Alagille Syndrome 1		Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi...	OMIM:118450
Generalized Juvenile Polyposis/Juvenile Polyposis Coli		Anemic pallor	ORPHA:329971
Mckusick-Kaufman Syndrome		Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula	OMIM:236700
Syndromic Diarrhea		Polycystic kidney dysplasia, Renal hypoplasia	ORPHA:84064
Distal Deletion 15Q		Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney	ORPHA:1596
Neurofibromatosis Type 1		Hydrocephalus, Abnormality of the upper urinary tract	ORPHA:636
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome		Hydrocephalus	ORPHA:3042
Cutis Marmorata Telangiectatica Congenita		Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Bardet-Biedl Syndrome		Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi...	ORPHA:110
Loeys-Dietz Syndrome 1		Hydrocephalus, Chiari malformation	OMIM:609192
Loeys-Dietz Syndrome 2		Hydrocephalus, Chiari malformation, Umbilical hernia	OMIM:610168
Caroli Syndrome		Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Pallister-Killian Syndrome		Stillbirth, Hypospadias, Renal cyst, Umbilical hernia, Renal dysplasia, Ventriculomegaly	OMIM:601803
Roberts Syndrome		Polycystic kidney dysplasia, Long penis	ORPHA:3103
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies		Hydrocephalus, Cerebellar atrophy	OMIM:175780
Mucopolysaccharidosis Type 2		Communicating hydrocephalus, Umbilical hernia	ORPHA:580
Okamoto Syndrome		Polydactyly, Urinary incontinence, Bifid uterus, Hydronephrosis, Ureteropelvic junction obstructi...	ORPHA:2729
Proteus Syndrome		Enlarged kidney, Sirenomelia, Long penis, Enlarged polycystic ovaries, Renal cyst	ORPHA:744
Neu-Laxova Syndrome 1		Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp...	OMIM:256520
Branchiooculofacial Syndrome		Hypospadias, Branchial anomaly, Renal cyst, Renal agenesis, Agenesis of cerebellar vermis	OMIM:113620
Ehlers-Danlos Syndrome, Vascular Type		Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Metacarpophalangeal join...	OMIM:130050
C Syndrome		Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney	ORPHA:1308
Pmm2-Cdg		Abnormal renal tubule morphology, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Nephro...	ORPHA:79318
Norrie Disease		Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum	ORPHA:649
Loeys-Dietz Syndrome		Camptodactyly of finger, Arachnodactyly, Uterine rupture	ORPHA:60030
Congenital Total Pulmonary Venous Return Anomaly		Pallor, Patent ductus arteriosus	ORPHA:99125
Vascular Ehlers-Danlos Syndrome		Hypospadias, Uterine rupture, Congenital hip dislocation, Uterine prolapse, Renovascular hyperten...	ORPHA:286

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 Cep55

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Cep55.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis.	PLoS genetics (October 2021)	Cep55^{tm1a(EUCOMM)Hmgu}	PMC8577787
Loss of Coiled-Coil Protein Cep55 Impairs Neural Stem Cell Abscission and Results in p53-Dependent Apoptosis in Developing Cortex.	The Journal of neuroscience : the official journal of the Society for Neuroscience (February 2021)	Cep55^em1(IMPC)Tcp	33622776

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
Cep55^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cep55^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Cep55^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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

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