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Gene: Ccdc65 MGI:2146001

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Gene Summary

Name:
coiled-coil domain containing 65
Synonyms:
4933417K04Rik

Order Alleles

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
preweaning lethality, incomplete penetrance Ccdc65em1(IMPC)Mbp HOM   Early adult 0.00
hydrometra Ccdc65em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

51 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Ccdc65 mutations

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

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

The table below shows human diseases associated to Ccdc65 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Ciliary Dyskinesia, Primary, 27
OMIM:615504

The table below shows human diseases predicted to be associated to Ccdc65 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Lissencephaly 4
Growth delay, Short stature, Colpocephaly, Agenesis of corpus callosum, Primary microcephaly OMIM:614019
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:618709
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum, Dysplastic corpus callosum OMIM:604213
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Masa Syndrome
Hydrocephalus, Microcephaly, Short stature, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha... OMIM:609637
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly OMIM:300884
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Microcephaly OMIM:619470
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Type 2
Hydrocephalus, Delayed puberty, Short stature ORPHA:141333
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Progressive microcephaly, CSF lymphocytic pleiocytosis, Intrauterine growth retard... OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum, Microcephaly OMIM:304100
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microcephaly, Agenesis of corpus callosum ORPHA:1528
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay ORPHA:488635
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature, Secondary microcephaly OMIM:618174
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Microcephaly, Colpoceph... OMIM:616034
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Fried Syndrome
Hydrocephalus ORPHA:85335
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Microcephaly ORPHA:858
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Microcephaly, Secondary microcephaly OMIM:615599
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Martsolf Syndrome 2
Short stature, Microcephaly, Lateral ventricle dilatation OMIM:619420
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly OMIM:618302
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature ORPHA:1516
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Bresek Syndrome
Hydrocephalus, Microcephaly, Growth delay, Neonatal death, Intrauterine growth retardation ORPHA:85284
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Secondary microcephaly ORPHA:397951
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Temple Syndrome
Hydrocephalus, Postnatal growth retardation, Short stature ORPHA:254516
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Hydrocephalus OMIM:276950
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Microcephaly, Short stature OMIM:300558
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callo... OMIM:225790
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation ORPHA:272
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Pontocerebellar Hypoplasia, Type 12
Primary microcephaly, Lateral ventricle dilatation OMIM:618266
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:618577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microcephaly OMIM:613155
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Microcephaly, ... OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Microcephaly, Holoprosence... ORPHA:1908
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Microcephaly, Short stature OMIM:241800
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Short stature, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature OMIM:218350
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Optic Pathway Glioma
Hydrocephalus, Growth delay ORPHA:2086
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature OMIM:109120
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Microcephaly, Later... ORPHA:79243
Hydatidiform Mole
Enlarged uterus ORPHA:99927
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Intrauterine growth retardation, Myelomeningocele ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Disproportionate short-limb sho... ORPHA:2655
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Short stature, Microcephaly, Colpocephaly, Intrauterine growth retardation, Ventri... OMIM:619833
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation OMIM:618330
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Hydrocephalus, Microcephaly, Intrauterine growth retardation, Ventr... ORPHA:2169
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Later... OMIM:618736
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum OMIM:616362
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Rhizomelia, Intrauterine growth retardation, Short stature OMIM:300863
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature ORPHA:2701
1Q44 Microdeletion Syndrome
Hydrocephalus, Growth delay, Short stature, Microcephaly, Agenesis of corpus callosum, Ventriculo... ORPHA:238769
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Adams-Oliver Syndrome 2
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:614219
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation OMIM:616355
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Microcephaly, Disproportionate short-trunk short stature OMIM:613330
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila... OMIM:610015
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Microcephaly, Agenesis of corpus callosum OMIM:619955
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Lateral ventricle dilatation ORPHA:77299
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Lateral ventricle dilatation OMIM:617668
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Agenesis of corpus callos... OMIM:615219
Alg2-Cdg
Microcephaly, Lateral ventricle dilatation ORPHA:79326
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly OMIM:618731
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Short stature OMIM:609757
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Microcephaly, Lateral ventricle dilatation OMIM:615716
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation OMIM:618890
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Temple Syndrome
Hydrocephalus, Intrauterine growth retardation, Short stature OMIM:616222
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum OMIM:207950
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Dilated fourth ventricle, Microcephaly, Agenesis of corpu... ORPHA:370959
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Short stature OMIM:615630
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
X-Linked Intellectual Disability, Wilson Type
Growth delay, Microcephaly, Lateral ventricle dilatation ORPHA:85290
Bilateral Generalized Polymicrogyria
Short stature, Microcephaly, Lateral ventricle dilatation, Growth delay ORPHA:208447
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dandy-Walker malformation, Dilated fourth ventricle, Microce... ORPHA:3078
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:175700
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Later... OMIM:616602
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Primary microcephaly, Lateral ventricle dilatation ORPHA:284417
Thanatophoric Dysplasia, Type I
Hydrocephalus, Lethal short-limbed short stature, Neonatal death, Disproportionate short-limb sho... OMIM:187600
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Rhizomelia, Intrauterine growth retardation, Short stature ORPHA:163966
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Microcephaly, Growth delay, Intrauterine growth retardation, Ventriculomegaly OMIM:614576
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly, Growth delay OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Pontocerebellar Hypoplasia, Type 1A
Microcephaly, Lateral ventricle dilatation OMIM:607596
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Intrauterine growth retardation, Lateral ventricle dilatation, Microcep... OMIM:617751
Cole-Carpenter Syndrome 2
Hydrocephalus, Postnatal growth retardation, Short stature OMIM:616294
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation OMIM:220210
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Communicating hydrocephalus ORPHA:1861
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation, Secondary microcephaly OMIM:612938
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation OMIM:614846
Nephronophthisis 18
Hydrocephalus OMIM:615862
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Microcephaly, Short stature, Growth delay OMIM:614886
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Secondary microcephaly, Short stature, Colpocephaly, Agenesis of co... OMIM:620113
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Cole-Carpenter Syndrome 1
Hydrocephalus, Short stature, Communicating hydrocephalus OMIM:112240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Progressive microcephaly, Microcephaly, Agenesis of corpus callosum OMIM:615249
Cach Syndrome
Intrauterine growth retardation, Microcephaly, Lateral ventricle dilatation, Growth delay ORPHA:135
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Growth delay ORPHA:77298
Trisomy 17P
Hydrocephalus, Microcephaly, Short stature, Growth delay, Intrauterine growth retardation ORPHA:261290
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly OMIM:612940
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Triploidy
Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Meningocele ORPHA:3376
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hemangioblastoma
Hydrocephalus ORPHA:252054
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Microcephaly, Intrauterine growth retardation, Ventricu... OMIM:609029
3C Syndrome
Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Short stature, Ventriculo... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Microcephaly OMIM:620157
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Growth delay, Microcephaly, Agenesis of corpus callosum... ORPHA:96170
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration, Short stature OMIM:272200
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Growth delay, Agenesis of corpus callosum, Lateral ventricle dilatation, Intrauter... OMIM:612863
Griscelli Syndrome
Hydrocephalus, Encephalocele, Short stature ORPHA:381
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Ventriculomegaly OMIM:304340
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Hydrocephalus, Neonatal death, Severe short stature, Disproportionate short stature OMIM:616482
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Fanconi Anemia, Complementation Group I
Microcephaly, Short stature, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retar... OMIM:609053
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Short stature ORPHA:459061
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Short stature, Microcepha... OMIM:257300
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Microcephaly ORPHA:1926
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... OMIM:600721
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Growth delay OMIM:614424
Multiple Sulfatase Deficiency
Hydrocephalus, Microcephaly, Short stature ORPHA:585
Lowry-Maclean Syndrome
Hydrocephalus, Microcephaly, Intrauterine growth retardation, Growth delay ORPHA:2409
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Ventriculomegaly OMIM:617281
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Microcephaly, Short stature, Ventriculomegaly ORPHA:500055
Arachnoiditis
Hydrocephalus ORPHA:137817
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Genitopalatocardiac Syndrome
Hydrocephalus, Intrauterine growth retardation, Microcephaly ORPHA:2075
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Desmosterolosis
Hydrocephalus, Growth delay, Microcephaly, Severe short stature, Agenesis of corpus callosum, Int... ORPHA:35107
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... ORPHA:2839
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly, Lethal short-limbed short stature ORPHA:1860
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Growth delay OMIM:300514
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ven... OMIM:618291
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Neonatal death OMIM:314390
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Neonatal short-limb short stature, Severe short stature, Encephalocele OMIM:224400
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
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
Walker-Warburg Syndrome
Hydrocephalus, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Ventriculome... ORPHA:899
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Hydrolethalus
Hydrocephalus, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hydrocephalus, Short stature, Growth delay, Microcephaly, Ventriculomegaly OMIM:259720
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Short stature OMIM:613686
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Severe short stature, Microcephaly, Encephalocele ORPHA:1865
Isotretinoin-Like Syndrome
Hydrocephalus, Postnatal growth retardation, Intrauterine growth retardation, Microcephaly ORPHA:2306
Tetrasomy 5P
Hydrocephalus, Postnatal growth retardation ORPHA:3309
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia ORPHA:15
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retar... OMIM:618651
Trisomy 1Q
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:261344
Muenke Syndrome
Hydrocephalus ORPHA:53271
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly, Progressive microcephaly OMIM:614969
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2836
Gracile Bone Dysplasia
Hydrocephalus, Short stature OMIM:602361
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Primary microcephaly, Microcephaly, Lateral ventricle dilatation OMIM:619847
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Rhizomelia, Progressive microcephaly, Short stature, Microcephaly, ... OMIM:611209
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Communicating hydrocephalus, Short stature, Microcephaly, Hypoglyco... ORPHA:168577
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618476
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Severe short stature, Mild short stature, Short stature OMIM:309900
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Normal pressure hydrocephalus, Lateral ventricle dilatation, Primar... ORPHA:300570
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
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Short stature ORPHA:1834
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Stromme Syndrome
Hydrocephalus, Stillbirth, Microcephaly, Agenesis of corpus callosum OMIM:243605
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Communicating hydrocephalus ORPHA:1064
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Meningocele, Dandy-Walker malformation, Dilat... ORPHA:397715
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Increased CSF lactate, Microcephaly, Lateral ventricle dilatation ORPHA:565624
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Desmosterolosis
Rhizomelia, Hydrocephalus, Microcephaly, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:602398
Pseudo-Torch Syndrome 2
Microcephaly, Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Hydrocephalus, Short stature, Intrauterine growth reta... OMIM:101800
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Joubert Syndrome With Renal Defect
Hydrocephalus, Agenesis of corpus callosum, Encephalocele ORPHA:220497
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly, Short stature ORPHA:93932
Cerebral Visual Impairment
Hydrocephalus, Microcephaly ORPHA:447788
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Lateral ventricle dilatation OMIM:619995
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:264480
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Communicating hydrocephalus ORPHA:2050
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Postnatal growth retardation, Severe short stature, Short stature OMIM:253220
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Microcephaly, Short stature, Agenesis of corpus callosum, Intrauterine growth reta... ORPHA:250989
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:1812
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation ORPHA:314588
Spondyloenchondrodysplasia
Short stature, Ventriculomegaly, Abnormal lateral ventricle morphology, Disproportionate short-tr... ORPHA:1855
Mirage Syndrome
Hydrocephalus, Intrauterine growth retardation, Short stature OMIM:617053
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Progressive microcephaly, Lateral ventricle dilatation ORPHA:488627
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry, Intrauterine growth retardation OMIM:616914
Icf Syndrome
Short stature, Communicating hydrocephalus ORPHA:2268
Joubert Syndrome With Ocular Defect
Hydrocephalus, Agenesis of corpus callosum, Encephalocele ORPHA:220493
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Microcephaly, Short stature ORPHA:220295
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocel... ORPHA:63259
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Raine Syndrome
Hydrocephalus, Neonatal death, Microcephaly, Short stature OMIM:259775
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly, Intrauterine growth retardation OMIM:269860
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Encephalocele OMIM:253800
Cog5-Cdg
Intrauterine growth retardation, Microcephaly, Lateral ventricle dilatation, Short stature ORPHA:263487
Rabin-Pappas Syndrome
Hydrocephalus, Microcephaly OMIM:620155
Functioning Gonadotropic Adenoma
Hydrocephalus, Delayed puberty ORPHA:91348
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Partial agenesis of th... OMIM:614643
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Short stature OMIM:619575
Lateral Meningocele Syndrome
Hydrocephalus, Short stature, Meningocele OMIM:130720
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Craniopharyngioma
Postnatal growth retardation, Delayed puberty, Hydrocephalus, Proportionate short stature, Growth... ORPHA:54595
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Microcephaly, Short stature, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:395
Monosomy 18Q
Hydrocephalus, Microcephaly, Short stature, Growth delay ORPHA:1600
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:613603
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Dilated third ventricle, Short stature, Microcephaly, Colpocephal... OMIM:620371
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:617296
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613001
Neurooculorenal Syndrome
Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Ve... OMIM:620305
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Microcephaly, Spina bifida OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Microcep... OMIM:236670
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Short stature, Growth delay OMIM:616007
Dubowitz Syndrome
Postnatal growth retardation, Spina bifida occulta, Hydrocephalus, Short stature, Microcephaly, I... ORPHA:235
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation, Growth delay OMIM:612301
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Crouzon Syndrome
Hydrocephalus OMIM:123500
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Microcephaly, Lobar holopro... OMIM:610828
Achondroplasia
Hydrocephalus, Rhizomelia, Neonatal short-limb short stature OMIM:100800
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation, Agenesis of corpus cal... ORPHA:314585
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:87
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ventriculomegaly, Intrauterine growth retardation, Lateral ventricle di... ORPHA:572798
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:612651
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Rhizomelia, Short stature OMIM:245600
Hurler Syndrome
Hydrocephalus, Short stature OMIM:607014
Orofaciodigital Syndrome Ii
Hydrocephalus, Short stature OMIM:252100
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:123790
Cousin Syndrome
Hydrocephalus, Disproportionate short stature, Rhizomelia, Hydranencephaly OMIM:260660
Mucopolysaccharidosis Type 1
Hydrocephalus, Short stature ORPHA:579
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly, Postnatal growth retardation, Short stature ORPHA:1272
Whipple Disease
Hydrocephalus ORPHA:3452
H Syndrome
Hydrocephalus, Delayed puberty, Short stature ORPHA:168569
Khan-Khan-Katsanis Syndrome
Microcephaly, Short stature, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:618460
Thakker-Donnai Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Communicating hydrocephalus ORPHA:1780
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Short stature OMIM:115150
Hurler Syndrome
Hydrocephalus, Short stature, Growth delay ORPHA:93473
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Microcephaly OMIM:147791
Congenital Syphilis
Hydrocephalus, CSF pleocytosis, Intrauterine growth retardation ORPHA:499009
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Partial agenesis o... OMIM:619512
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Ventriculomegaly, Occipital meningocele, Anencephaly OMIM:616546
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:228308
Marden-Walker Syndrome
Hydrocephalus, Growth delay, Microcephaly, Severe short stature, Agenesis of corpus callosum, Int... ORPHA:2461
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Secondary microcephaly, Lateral ventricle dilatation ORPHA:2148
Aicardi Syndrome
Postnatal growth retardation, Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventr... OMIM:304050
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Cardiofaciocutaneous Syndrome
Hydrocephalus, Short stature ORPHA:1340
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Primary microcephaly, Lateral ventricle dilatation ORPHA:293725
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Hydrocephalus, Severe postnatal growth retardation, M... OMIM:210710
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Rhizomelic arm shortening, Agenesis of corpus callosum OMIM:101200
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Rhizomelia OMIM:618162
Opitz-Kaveggia Syndrome
Hydrocephalus, Partial agenesis of the corpus callosum, Short stature OMIM:305450
Alexander Disease
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:58
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Growth delay ORPHA:96121
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Microcephaly OMIM:182212
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Microcephaly, Short stature, Agenesis of corpus callosum OMIM:311200
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Short stature OMIM:227646
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Disproportionate short-trunk short stature, Cervical myelopathy, Short stature OMIM:253200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Microcephaly, Encephalocele ORPHA:2166
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Postnatal growth retardation ORPHA:536467
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Microcephaly, Intrauterine growth retardation, Growth delay ORPHA:79282
Holoprosencephaly
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Holoprosencephaly, Spinal ... ORPHA:2162
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Communicating hydrocephalus OMIM:616084
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature OMIM:602535
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ve... OMIM:249000
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Fanconi Anemia, Complementation Group L
Hydrocephalus, Intrauterine growth retardation, Growth delay OMIM:614083
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Short stature OMIM:300373
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of co... OMIM:301043
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Short stature, Microcepha... OMIM:610829
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Short stature ORPHA:2322
Otopalatodigital Syndrome Type 2
Hydrocephalus, Encephalocele, Myelomeningocele ORPHA:90652
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Colpocephaly, Microcephaly OMIM:620083
Dextrocardia
Hydrocephalus ORPHA:1666
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hydrocephalus, Spina bifida, Microcephaly, Agenesis of corpus callo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hydrocephalus, Spina bifida, Microcephaly, Agenesis of corpus callo... ORPHA:363958
Medulloblastoma
Hydrocephalus ORPHA:616
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Colpocephaly, Agenesis of corpus callosum OMIM:614866
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Microcephaly, Short stature ORPHA:163979
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Microcephaly OMIM:277400
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Microcephaly, Short stature OMIM:154400
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Dandy-Walker malformation, Short stature, Growth delay, Microcephaly, Holoprosence... OMIM:270400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Stillbirth, Delayed puberty ORPHA:95699
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Coccidioidomycosis
Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis, Increased CSF protein concentration... ORPHA:228123
Fanconi Anemia
Hydrocephalus, Spina bifida, Short stature, Growth delay, Microcephaly, Intrauterine growth retar... ORPHA:84
Shprintzen-Goldberg Syndrome
Microcephaly, Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Cockayne Syndrome A
Normal pressure hydrocephalus, Severe postnatal growth retardation, Short stature, Microcephaly, ... OMIM:216400
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Lobar holopro... ORPHA:564
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Spina bifida OMIM:162200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:457284
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Intrauterine growth retardation, Short stature, Microcephaly OMIM:619321
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum ORPHA:264450
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Short stature ORPHA:401973
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Short stature OMIM:300960
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Kabuki Syndrome 1
Postnatal growth retardation, Hydrocephalus, Growth delay, Short stature, Microcephaly, Lateral v... OMIM:147920
Hajdu-Cheney Syndrome
Hydrocephalus, Delayed puberty, Short stature ORPHA:955
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Wolf-Hirschhorn Syndrome
Hydrocephalus, Severe postnatal growth retardation, Short stature, Growth delay, Microcephaly, Ag... OMIM:194190
Cockayne Syndrome B
Postnatal growth retardation, Normal pressure hydrocephalus, Microcephaly, Severe short stature, ... OMIM:133540
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Hydrocephalus, Microcephaly, Intrauterine growth retardation, Ventriculomegaly, ... OMIM:619475
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Microcephaly, Agenesis of corpus ... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Microcephaly, Agenesis of corpus ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Microcephaly, Agenesis of corpus ... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Microcephaly, Agenesis of corpus ... ORPHA:93924
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Short stature OMIM:619869
Gorlin Syndrome
Hydrocephalus ORPHA:377
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventricle dilatation OMIM:619479
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Secondary microcephaly, Colpocephaly, Holoprosencephaly, Agenesis of ... OMIM:618820
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Peters Plus Syndrome
Postnatal growth retardation, Rhizomelia, Disproportionate short-limb short stature, Spina bifida... ORPHA:709
Fontaine Progeroid Syndrome
Hydrocephalus, Short stature, Microcephaly, Neonatal death, Intrauterine growth retardation OMIM:612289
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Intrauterine growth retardation OMIM:208150
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Microcephaly, Growth delay, Severe short stature, Agenesis of corpus callosum ORPHA:2556
22Q11.2 Deletion Syndrome
Meningocele, Hydrocephalus, Spina bifida, Short stature, Microcephaly, Intrauterine growth retard... ORPHA:567
Hajdu-Cheney Syndrome
Hydrocephalus, Short stature OMIM:102500
Osteogenesis Imperfecta
Rhizomelia, Hydrocephalus, Short stature, Growth delay, Noncommunicating hydrocephalus, Intrauter... ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Severe short stature, Agenesis of corpus callosum ORPHA:2658
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Campomelic Dysplasia
Neonatal short-limb short stature, Disproportionate short-limb short stature, Hydrocephalus, Spin... OMIM:114290
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Microcephaly, Lateral ventricle dilatation OMIM:618367
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Microcephaly ORPHA:261337
Hydrolethalus Syndrome 1
Stillbirth, Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydroceph... OMIM:236680
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Delayed puberty, Growth delay ORPHA:2072
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Yunis-Varon Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Agenesis of corpus callosum, Primary ... ORPHA:3472
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2369
Cryptococcosis
Hydrocephalus ORPHA:1546
Pseudoaminopterin Syndrome
Hydrocephalus, Short stature ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus, Short stature ORPHA:1106
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Myelomeningocele OMIM:306955
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Stillbirth, Hydrocephalus, Spina bifida, Short stature OMIM:304120
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Gaucher Disease
Hydrocephalus, Ventriculomegaly, Delayed puberty, Short stature ORPHA:355
Peters-Plus Syndrome
Postnatal growth retardation, Rhizomelia, Disproportionate short-limb short stature, Hydrocephalu... OMIM:261540
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Growth delay ORPHA:667
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Costello Syndrome
Hydrocephalus, Ventriculomegaly, Short stature OMIM:218040
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus, Severe intrauterine growth retardation, Short stature, Sever... OMIM:218600
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short stature, Microcephaly, Agenesis of corpus callosum, Mild fetal... OMIM:619841
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Short stature, Microcephaly, Intra... OMIM:616462
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormal lateral ventricle morphology, Secondary microcephaly, Shor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormal lateral ventricle morphology, Secondary microcephaly, Shor... ORPHA:353277
Fraser Syndrome 1
Hydrocephalus, Encephalocele, Microcephaly, Myelomeningocele OMIM:219000
Focal Dermal Hypoplasia
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Short stature, Microcephaly, Agenesis of c... OMIM:305600
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Microcephaly, Growth delay, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:253280
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation, Short stature, Agenesis of corpus callosum, Intrauterin... OMIM:264090
Meningioma
Hydrocephalus ORPHA:2495
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Short stature ORPHA:3042
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Stillbirth, Hydrocephalus, Severe intrauterine growth retardation, ... OMIM:268300
Mucopolysaccharidosis Type 2
Short stature, Growth delay, Communicating hydrocephalus ORPHA:580
Neurofibromatosis Type 1
Hydrocephalus, Delayed puberty, Short stature ORPHA:636
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation ORPHA:3310
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Severe intrauterine growth retardation, Short stature, Growth delay, Agenesis of c... ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Short stature, Neonatal death, Lateral ventricle dilatation OMIM:619534
Congenital Disorder Of Glycosylation, Type Iim
Intrauterine growth retardation, Microcephaly, Lateral ventricle dilatation OMIM:300896
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Coffin-Siris Syndrome 12
Short stature, Microcephaly, Noncommunicating hydrocephalus OMIM:619325
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Short stature ORPHA:363700
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Microcephaly OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Okamoto Syndrome
Bifid uterus ORPHA:2729
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Agenesis of corpus callosum OMIM:312870
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele, Agenesis of corpus callosum OMIM:164210
Ciliary Dyskinesia, Primary, 27
OMIM:615504

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 Ccdc65

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 Ccdc65.

No publications found that use IMPC mice or data for Ccdc65.

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
Ccdc65em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ccdc65tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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