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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
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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 Lateral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

51 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
Ventriculomegaly, Hydrocephalus 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
Ventriculomegaly, Hydrocephalus 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
Ventriculomegaly, Hydrocephalus OMIM:615938
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Short stature, Growth delay OMIM:614019
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Ventriculomegaly, Hydrocephalus OMIM:618709
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:604213
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... 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
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short stature OMIM:303350
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... 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
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Developmental And Epileptic Encephalopathy 36
Microcephaly, Hydrocephalus OMIM:300884
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Hydrocephalus OMIM:619470
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Type 2
Short stature, Delayed puberty, Hydrocephalus ORPHA:141333
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Intrauterine growth retardation, CSF lymphocytic pleiocytosis, Progressive micr... OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Microcephaly, Ventriculomegaly, Hydrocephalus OMIM:304100
Craniotelencephalic Dysplasia
Microcephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Growth delay, Abnormal lateral ventricle morphology ORPHA:488635
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Secondary microcephaly, Short stature, Hydrocephalus OMIM:618174
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co... OMIM:616034
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Fried Syndrome
Hydrocephalus ORPHA:85335
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Congenital Toxoplasmosis
Microcephaly, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:858
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Secondary microcephaly, Microcephaly, Hydrocephalus OMIM:615599
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Martsolf Syndrome 2
Short stature, Microcephaly, Lateral ventricle dilatation OMIM:619420
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hydrocephalus OMIM:618302
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short stature, Hydrocephalus 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
Short stature, Hydrocephalus ORPHA:2183
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Microcephaly, Hydrocephalus, Growth delay ORPHA:85284
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Hydrocephalus ORPHA:397951
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Temple Syndrome
Short stature, Postnatal growth retardation, Hydrocephalus ORPHA:254516
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Intellectual Developmental Disorder, X-Linked 30
Short stature, Microcephaly, Hydrocephalus OMIM:300558
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum, ... OMIM:225790
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:272
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Primary microcephaly OMIM:618266
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microcephaly, Hydrocephalus OMIM:613155
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencep... OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Microcephaly, Hydrocephalus, S... ORPHA:1908
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Pallister-Hall-Like Syndrome
Short stature, Microcephaly, Occipital encephalocele, Hydrocephalus OMIM:241800
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Short stature, Holoprosencephaly ORPHA:93274
Craniofacial Dyssynostosis With Short Stature
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, 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
Growth delay, Hydrocephalus ORPHA:2086
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... ORPHA:79243
Hydatidiform Mole
Enlarged uterus ORPHA:99927
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Intrauterine growth retardation, Hydrocephalus ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Thanatophoric Dysplasia
Ventriculomegaly, Intrauterine growth retardation, Disproportionate short-limb short stature, Hyd... ORPHA:2655
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Colpocephaly, Hydrocephalus, Sho... OMIM:619833
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary 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
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Hy... ORPHA:2169
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus ORPHA:398189
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation OMIM:618330
Metatropic Dysplasia
Severe short stature, Hydrocephalus ORPHA:2635
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:618736
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Growth delay OMIM:620156
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Houge-Janssens Syndrome 2
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus 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
Short stature, Hydrocephalus ORPHA:2701
1Q44 Microdeletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short stature, Growth... ORPHA:238769
Amelocerebrohypohidrotic Syndrome
Short stature, Hydrocephalus ORPHA:1946
Adams-Oliver Syndrome 2
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:614219
Houge-Janssens Syndrome 1
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus OMIM:616355
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Microcephaly, Disproportionate short-trunk short stature, Hydrocephalus OMIM:613330
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Lateral ventricle dilatation ORPHA:77299
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus 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
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Alg2-Cdg
Microcephaly, Lateral ventricle dilatation ORPHA:79326
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly OMIM:618731
Williams-Beuren Region Duplication Syndrome
Short stature, Ventriculomegaly, Hydrocephalus OMIM:609757
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Growth delay, Lateral ventricle dilatation OMIM:615716
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, 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
Short stature, Intrauterine growth retardation, Hydrocephalus OMIM:616222
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Agenesis of corpus callosum,... ORPHA:370959
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Ventriculomegaly, Hydrocephalus OMIM:615630
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Lateral ventricle dilatation ORPHA:85290
Bilateral Generalized Polymicrogyria
Short stature, Microcephaly, Growth delay, Lateral ventricle dilatation ORPHA:208447
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Microcephaly, Severe postnatal growth ret... 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
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:175700
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:616602
Oxoglutaric Aciduria
Short stature, Hydrocephalus ORPHA:31
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Primary microcephaly, Lateral ventricle dilatation ORPHA:284417
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Hydrocephalus, Lethal short-limbed short stature, Neon... OMIM:187600
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus ORPHA:163966
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Growth delay 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
Microcephaly, Growth delay, Hydrocephalus 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-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Intrauterine growth retardation, Lateral ventricle dilata... OMIM:617751
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Hydrocephalus OMIM:616294
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation 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
Secondary microcephaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Nephronophthisis 18
Hydrocephalus OMIM:615862
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Microcephaly, Growth delay, Hydrocephalus OMIM:614886
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Postnatal growth retardation, Intrauterine growth retardation, Agenesis o... OMIM:620113
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Progressive microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Cach Syndrome
Microcephaly, Intrauterine growth retardation, Growth delay, Lateral ventricle dilatation ORPHA:135
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Albers-Schönberg Osteopetrosis
Short stature, Hydrocephalus ORPHA:53
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Growth delay, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Trisomy 17P
Intrauterine growth retardation, Microcephaly, Hydrocephalus, Short stature, Growth delay ORPHA:261290
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Triploidy
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:3376
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hemangioblastoma
Hydrocephalus ORPHA:252054
Emanuel Syndrome
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Dandy-Walker malf... OMIM:609029
3C Syndrome
Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Short stature, Dandy-Walker malfor... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 70
Microcephaly, Hydrocephalus OMIM:620157
Emanuel Syndrome
Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Hyd... ORPHA:96170
Multiple Sulfatase Deficiency
Short stature, Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Intrauterine growth retardation, Agenesis of corpus callosum, Hydro... OMIM:612863
Griscelli Syndrome
Short stature, Hydrocephalus, Encephalocele ORPHA:381
Pettigrew Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Aqueductal stenosis, Dandy-Walker malformation OMIM:304340
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Neonatal death, Hydrocephalus OMIM:616482
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Short s... OMIM:609053
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum 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
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Agenesis of corp... OMIM:257300
Diabetic Embryopathy
Microcephaly, Spinal dysraphism, Hydrocephalus ORPHA:1926
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Aqueductal stenosis, Par... 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, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation OMIM:614424
Multiple Sulfatase Deficiency
Short stature, Microcephaly, Hydrocephalus ORPHA:585
Lowry-Maclean Syndrome
Microcephaly, Intrauterine growth retardation, Growth delay, Hydrocephalus ORPHA:2409
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Dysplastic corpus callosum, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Microcephaly, Hydrocephalus, Short stature ORPHA:500055
Arachnoiditis
Hydrocephalus ORPHA:137817
Genitopalatocardiac Syndrome
Microcephaly, Intrauterine growth retardation, Hydrocephalus ORPHA:2075
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Desmosterolosis
Severe short stature, Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callo... ORPHA:35107
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Hydroc... ORPHA:2839
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus, Lethal short-limbed short stature ORPHA:1860
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Intrauterine growth retardation, Growth delay, Hydrocephalus OMIM:300514
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ven... OMIM:618291
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Neonatal death OMIM:314390
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Hydrocephalus, Neonatal short-limb short stature, Encephalocele OMIM:224400
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Walker-Warburg Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Dandy-Walker malforma... ORPHA:899
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Microcephaly, Hydrocephalus, Stillbirth, Short stature, Growth delay 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
Short stature, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:613686
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Microcephaly, Encephalocele, Hydrocephalus ORPHA:1865
Isotretinoin-Like Syndrome
Microcephaly, Intrauterine growth retardation, Hydrocephalus, Postnatal growth retardation ORPHA:2306
Tetrasomy 5P
Postnatal growth retardation, Hydrocephalus ORPHA:3309
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Agenesis of corpus callosum OMIM:619320
Achondroplasia
Rhizomelia, Disproportionate short stature, Hydrocephalus ORPHA:15
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Intrauterine growth retardation, Agenesis of corpu... OMIM:618651
Trisomy 1Q
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:261344
Muenke Syndrome
Hydrocephalus ORPHA:53271
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Progressive microcephaly, Hydrocephalus OMIM:614969
Peho Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus ORPHA:2836
Gracile Bone Dysplasia
Short stature, Hydrocephalus OMIM:602361
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Microcephaly, Lateral ventricle dilatation, Primary microcephaly OMIM:619847
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Lateral ventricle dilatation, Postnatal growth retardation, Intrauterine growth retar... OMIM:611209
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Postnatal growth retardation, Microcephaly, Short stature, Communicating hydro... ORPHA:168577
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618476
Mucopolysaccharidosis, Type Ii
Severe short stature, Hydrocephalus, Short stature, Mild short stature OMIM:309900
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Postnatal growth retardation, Primary microcephaly, Normal pressure... ORPHA:300570
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617822
Axial Mesodermal Dysplasia Spectrum
Short stature, Hydrocephalus ORPHA:1834
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Stromme Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus, Stillbirth OMIM:243605
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Communicating hydrocephalus ORPHA:1064
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... ORPHA:397715
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Microcephaly, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:565624
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Desmosterolosis
Rhizomelia, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:602398
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Pseudo-Torch Syndrome 2
Microcephaly, Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Short stature OMIM:617260
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Encephalocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus OMIM:613150
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Intrauterine growth retardation, Mild postnatal growth... OMIM:101800
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220497
Fg Syndrome Type 1
Short stature, Ventriculomegaly, Hydrocephalus ORPHA:93932
Cerebral Visual Impairment
Microcephaly, Hydrocephalus 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
Short stature, Hydrocephalus ORPHA:2720
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Cole-Carpenter Syndrome
Short stature, Intrauterine growth retardation, Communicating hydrocephalus ORPHA:2050
Pseudotrisomy 13 Syndrome
Encephalocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Holoprosencephaly OMIM:264480
Mucopolysaccharidosis, Type Vii
Severe short stature, Postnatal growth retardation, Short stature, Hydrocephalus OMIM:253220
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short ... ORPHA:250989
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:1812
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Distal Triplication 15Q
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Spondyloenchondrodysplasia
Short stature, Ventriculomegaly, Disproportionate short-trunk short stature, Abnormal lateral ven... ORPHA:1855
Mirage Syndrome
Short stature, Intrauterine growth retardation, Hydrocephalus 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
Icf Syndrome
Short stature, Communicating hydrocephalus ORPHA:2268
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Intrauterine growth retardation, Hydrocephalus OMIM:616914
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220493
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Microcephaly, Hydrocephalus ORPHA:220295
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holo... ORPHA:63259
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Raine Syndrome
Short stature, Microcephaly, Hydrocephalus, Neonatal death OMIM:259775
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Neonatal death, Hydrocephalus, Holoprosencephaly, Anencephaly OMIM:269860
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Cerebrooculonasal Syndrome
Ventriculomegaly, Postnatal growth retardation, Encephalocele, Hydrocephalus, Dandy-Walker malfor... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele, Agenesis of corpus callosum OMIM:253800
Cog5-Cdg
Short stature, Microcephaly, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:263487
Rabin-Pappas Syndrome
Microcephaly, Hydrocephalus OMIM:620155
Functioning Gonadotropic Adenoma
Delayed puberty, Hydrocephalus ORPHA:91348
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa... OMIM:614643
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Lateral Meningocele Syndrome
Short stature, Meningocele, Hydrocephalus OMIM:130720
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Craniopharyngioma
Postnatal growth retardation, Proportionate short stature, Delayed puberty, Hydrocephalus, Growth... ORPHA:54595
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Short stature OMIM:309801
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Microcephaly, Ventriculomegaly, Hydrocephalus ORPHA:395
Monosomy 18Q
Short stature, Microcephaly, Growth delay, Hydrocephalus ORPHA:1600
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Microcephaly, Colpocephal... OMIM:620371
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus OMIM:613603
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, 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
Ventriculomegaly, Postnatal growth retardation, Agenesis of corpus callosum, Hydrocephalus, Aqued... OMIM:620305
Chromosome 17P13.1 Deletion Syndrome
Microcephaly, Hydrocephalus, Spina bifida OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosum, Microcephaly, Hydrocephal... OMIM:236670
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Growth delay, Hydrocephalus OMIM:616007
Dubowitz Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Short... ORPHA:235
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Growth delay, Lateral ventricle dilatation OMIM:612301
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... 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
Myelopathy, Hydrocephalus ORPHA:97339
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:610828
Achondroplasia
Rhizomelia, Hydrocephalus, Neonatal short-limb short stature OMIM:100800
15Q Overgrowth Syndrome
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus cal... ORPHA:314585
Apert Syndrome
Ventriculomegaly, Hydrocephalus, 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
Ventriculomegaly, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:612651
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, 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
Short stature, Rhizomelia, Hydrocephalus OMIM:245600
Hurler Syndrome
Short stature, Hydrocephalus OMIM:607014
Orofaciodigital Syndrome Ii
Short stature, Hydrocephalus OMIM:252100
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:123790
Cousin Syndrome
Hydrocephalus, Rhizomelia, Disproportionate short stature, Hydranencephaly OMIM:260660
Mucopolysaccharidosis Type 1
Short stature, Hydrocephalus ORPHA:579
Aymé-Gripp Syndrome
Short stature, Postnatal growth retardation, Ventriculomegaly, Hydrocephalus ORPHA:1272
Whipple Disease
Hydrocephalus ORPHA:3452
H Syndrome
Short stature, Delayed puberty, Hydrocephalus ORPHA:168569
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Colpocephaly, Short stature OMIM:618460
Thakker-Donnai Syndrome
Intrauterine growth retardation, Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Cardiofaciocutaneous Syndrome 1
Short stature, Hydrocephalus OMIM:115150
Hurler Syndrome
Short stature, Growth delay, Hydrocephalus ORPHA:93473
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Jacobsen Syndrome
Microcephaly, Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus OMIM:147791
Congenital Syphilis
Intrauterine growth retardation, Hydrocephalus, CSF pleocytosis ORPHA:499009
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules ORPHA:25
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis o... OMIM:619512
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:228308
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Marden-Walker Syndrome
Severe short stature, Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly,... ORPHA:2461
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Microcephaly... OMIM:304050
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Secondary microcephaly, Lateral ventricle dilatation ORPHA:2148
Cardiofaciocutaneous Syndrome
Short stature, Hydrocephalus ORPHA:1340
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Primary microcephaly ORPHA:293725
Apert Syndrome
Rhizomelic arm shortening, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:101200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Lateral ventricle dilatation, Intrauterine growth retardation, Ag... OMIM:210710
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Hydrocephalus OMIM:618162
Opitz-Kaveggia Syndrome
Short stature, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
7Q11.23 Microduplication Syndrome
Short stature, Ventriculomegaly, Growth delay, Hydrocephalus ORPHA:96121
Shprintzen-Goldberg Craniosynostosis Syndrome
Microcephaly, Hydrocephalus OMIM:182212
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Fanconi Anemia, Complementation Group D2
Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:227646
Orofaciodigital Syndrome I
Myelomeningocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short stature OMIM:311200
Mucopolysaccharidosis, Type Vi
Short stature, Disproportionate short-trunk short stature, Cervical myelopathy, Hydrocephalus OMIM:253200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Microcephaly, Holoprosencephaly, Encephalocele ORPHA:2166
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Hydrocephalus ORPHA:536467
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Microcephaly, Intrauterine growth retardation, Growth delay, Hydrocephalus ORPHA:79282
Holoprosencephaly
Spinal dysraphism, Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker ma... ORPHA:2162
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Growth delay OMIM:616084
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Marshall-Smith Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:602535
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Intrauterine growth retardat... OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosum, Hydrocephalus, Communicat... OMIM:615287
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
Intrauterine growth retardation, Growth delay, Hydrocephalus OMIM:614083
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Osteopathia Striata With Cranial Sclerosis
Short stature, Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:300373
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:301043
Holoprosencephaly 9
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Short stature, Partial agenesis of the cor... OMIM:610829
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Kabuki Syndrome
Short stature, Microcephaly, Ventriculomegaly, Hydrocephalus ORPHA:2322
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele ORPHA:90652
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Microcephaly, Colpocephaly OMIM:620083
Dextrocardia
Hydrocephalus ORPHA:1666
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Postnatal growth retardation, Agenesis of corpus callosum, Microcephaly, Hydroc... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Postnatal growth retardation, Agenesis of corpus callosum, Microcephaly, Hydroc... ORPHA:363958
Medulloblastoma
Hydrocephalus ORPHA:616
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum OMIM:614866
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Microcephaly, Hydrocephalus ORPHA:163979
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus ORPHA:77301
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Hydrocephalus OMIM:277400
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Acrofacial Dysostosis 1, Nager Type
Short stature, Microcephaly, Aqueductal stenosis, Hydrocephalus OMIM:154400
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Microcephaly, Colpocephaly, Hydrocephalus, Short stature, Partia... OMIM:270400