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Gene: Slc25a18 MGI:1919053

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Gene Summary

Name:
solute carrier family 25 (mitochondrial carrier), member 18
Synonyms:
1500015I14Rik

Order Alleles

IMPC Data Collections

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
abnormal epididymis morphology Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
increased total body fat amount Slc25a18em1(IMPC)Mbp HOM Early adult 6.13×10-05
enlarged epididymis Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Slc25a18em1(IMPC)Mbp HOM   Early adult 6.52×10-05
impaired contextual conditioning behavior Slc25a18tm1b(KOMP)Wtsi HOM Early adult 6.57×10-05
increased circulating alanine transaminase level Slc25a18tm1b(KOMP)Wtsi HOM Early adult 1.19×10-09
decreased anxiety-related response Slc25a18em1(IMPC)Mbp HOM Early adult 2.30×10-12
abnormal brain morphology Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Slc25a18em1(IMPC)Mbp HOM Early adult 7.52×10-11
decreased thigmotaxis Slc25a18em1(IMPC)Mbp HOM Early adult 3.44×10-12
absent seminal vesicle Slc25a18tm1b(KOMP)Wtsi HOM Early adult 0.00
increased grip strength Slc25a18tm1b(KOMP)Wtsi HOM Late adult 1.72×10-05
hyperactivity Slc25a18em1(IMPC)Mbp HOM   Early adult 6.40×10-06
impaired cued conditioning behavior Slc25a18tm1b(KOMP)Wtsi HOM   Early adult 2.73×10-05
impaired glucose tolerance Slc25a18tm1b(KOMP)Wtsi HOM Early adult 1.90×10-05
abnormal seminal vesicle morphology Slc25a18tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrocephaly Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Slc25a18em1(IMPC)Mbp HOM Early adult 3.60×10-12

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Slc25a18 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc25a18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... OMIM:618709
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Atypical Teratoid Rhabdoid Tumor
Irritability, Hydrocephalus, Ataxia ORPHA:99966
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Elbow flexion contracture, A... OMIM:619470
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogrypo... ORPHA:250994
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Ventriculomegaly OMIM:613402
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention ... ORPHA:261102
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Reduced bone mineral density, Irritability, Disinhibition, Abnormal adi... ORPHA:2770
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Ventriculom... OMIM:301107
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Fried Syndrome
Hydrocephalus, Gait disturbance, Aggressive behavior ORPHA:85335
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Hydrocephalus, Attention deficit hyperactivi... ORPHA:649929
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture, Self-mutilation OMIM:300884
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Central Neurocytoma
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Lethargy ORPHA:73256
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus, Bicornuate uterus OMIM:258320
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Methylmalonic Acidemia With Homocystinuria
Lethargy, Hydrocephalus, Gait disturbance ORPHA:26
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Morm Syndrome
Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Ventriculomegaly ORPHA:457260
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Unsteady gait, Depression, S... ORPHA:485350
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Kleeblattschaedel
Hydrocephalus, Craniosynostosis OMIM:148800
Masa Syndrome
Hydrocephalus, Shuffling gait, Ventriculomegaly OMIM:303350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoosper... ORPHA:8
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Elevated CSF 4-hydroxybutyric acid concentration, Ele... OMIM:271980
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation OMIM:300558
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Hydrocephalus, Inability to walk by childhood/adolescence, Flexion contracture, St... ORPHA:99947
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression ORPHA:275543
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia, Ventr... ORPHA:500180
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Dilated third ventricle, Cryptorchidism, Hydrocephalus, Flexion... ORPHA:500055
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion contracture, G... OMIM:304340
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myelomeningocele, Contracture o... OMIM:620141
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Camptodactyly of t... OMIM:175700
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Gait disturbance, Attention deficit hyperactivity disorder, Ventri... OMIM:609757
Alexander Disease Type I
Hydrocephalus, Ataxia, Dysphagia ORPHA:363717
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Polyphagia ORPHA:254516
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-... ORPHA:228402
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Hypoplastic female external genitalia, Ven... OMIM:618577
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Ventriculomegaly OMIM:300958
Acalvaria
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Ataxia OMIM:618174
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu... OMIM:300486
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... OMIM:616034
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hydrocephalus, Craniosynostosis ORPHA:1516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Umbilical hernia, Micropenis ORPHA:171839
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Flexion contracture, Gait disturbance, Ventriculomegaly ORPHA:272
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Congenital diaphragmatic hernia, Craniosynostosis ORPHA:380
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Hydrocephalus, Abnormal cortical bone ... ORPHA:2635
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia OMIM:207950
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Hydrocephalu... OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Aggressive behavior, Hydrocephalus, Irritability, Self-injurious behavior, Colpocephaly, ... OMIM:619833
Triploidy
Omphalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holopr... ORPHA:3376
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus, Flexion contracture OMIM:613155
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Hydrocephalus, Flexion contracture, Gait disturbance, Delayed pub... OMIM:613330
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus, Gait disturbance ORPHA:2181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Hernia, Ventriculomegaly OMIM:602501
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso... OMIM:619320
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Increased bone mineral density, Communicating hydrocephalus ORPHA:1237
6P22 Microdeletion Syndrome
Hydrocephalus, Hernia ORPHA:251046
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia OMIM:220220
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D... ORPHA:100924
Fg Syndrome Type 1
Broad-based gait, Inguinal hernia, Hypospadias, Progressive flexion contractures, Craniosynostosi... ORPHA:93932
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size OMIM:616222
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Inguinal hernia, Sagittal craniosynostosis, Hydrocephalus, Attention deficit hyperactivity disord... ORPHA:459061
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tolerance, Abnorm... ORPHA:163681
Cole-Carpenter Syndrome 1
Osteopenia, Communicating hydrocephalus, Hydrocephalus, Reduced bone mineral density, Coronal cra... OMIM:112240
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly ORPHA:588
Infantile Sialic Acid Storage Disease
Osteopenia, Hydrocephalus OMIM:269920
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:218350
Tenorio Syndrome
Osteopenia, Hydrocephalus, Gait disturbance, Emotional lability, Ventriculomegaly OMIM:616260
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micropenis, Hydrocephalus OMIM:241800
Alexander Disease
Osteopenia, Ataxia, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Depression, Self-inju... ORPHA:58
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Depression, Ir... ORPHA:2356
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Hogue-Janssen Syndrome 2
Inability to walk, Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616362
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Hypospadias, Craniosynostosis, Congenital diaphragmatic hernia, Bila... ORPHA:2409
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Akinesia, Hydrocephalus, Hydranencephaly, Joint contracture, Dandy-Walker malfo... OMIM:225790
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Myelomeningocele, Hydrocephalus ORPHA:1914
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male pseudohermaphroditism, Hydroce... ORPHA:2075
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Hypospadias, Inguinal hernia, Craniosynostosis, Aggressive behavior... ORPHA:96121
Trisomy 1Q
Omphalocele, Small scrotum, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchid... ORPHA:261344
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries, Hyperostosis, Subcutaneous lipoma... ORPHA:2969
Emanuel Syndrome
Ventriculomegaly, Multiple joint contractures, Inguinal hernia, Congenital diaphragmatic hernia, ... ORPHA:96170
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Irritability, Progressive cerebellar ataxia, Lethargy, Cerebell... ORPHA:616
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cryptorchidism, Hydrocephalus, Choreoathetosis, Ambiguous genitalia, Micropenis, Ventricu... OMIM:614969
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Irritability, Dandy-Walker malformation OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Osteopenia, Isosexual precocious puberty, Enlarged polycystic ovari... ORPHA:91348
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Ventriculomegaly, Self-biting OMIM:618314
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Flexion contracture, Dandy-Walker malformation OMIM:310400
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Hydrocep... ORPHA:1812
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Scarring ORPHA:398189
Methylcobalamin Deficiency Type Cble
Lethargy, Hydrocephalus, Osteoporosis, Ventriculomegaly ORPHA:2169
Emanuel Syndrome
Ventriculomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus... OMIM:609029
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Hypoplastic labia majora, Lambdoidal craniosynostosis, Campto... OMIM:207410
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hydrocephalus, Abnormal cortical bone morphology OMIM:614886
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Cranial hyperostosis, Diaphyseal sclerosis, Decreased osteoclast count, Osteopetrosis OMIM:259710
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Distal Triplication 15Q
Abnormal external genitalia, Craniosynostosis, Hydrocephalus, Flexion contracture, Hydrocele test... ORPHA:314588
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Umbilical hernia OMIM:601499
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Unsteady gait OMIM:617542
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita... OMIM:617822
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Radial club hand, Hydrocephalus OMIM:276950
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... OMIM:610217
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventri... ORPHA:1647
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hypospadias, Dandy-Walker malformation OMIM:220210
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Radial club hand, Hydrocephalus, Mic... OMIM:617053
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hyperactivity, Inguinal hernia, Ataxia, Aggressive behavior, Hypersexu... ORPHA:581
Pelvis-Shoulder Dysplasia
Waddling gait, Hydranencephaly, Camptodactyly of finger, Spina bifida, Hydrocephalus, Ambiguous g... ORPHA:2839
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Addictive alcohol use, Increased CSF lactate ORPHA:90065
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Lipoma, Multiple central nervous system lipom... OMIM:613001
Whipple Disease
Ataxia, Anorexia, Hydrocephalus, Depression, Polydipsia ORPHA:3452
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Hyperactivity, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology ORPHA:2189
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Craniosynostosis, Cryptorchidism, Hydrocephalus, Umbilical hernia, Prominent scrot... ORPHA:1555
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Inguinal hernia, Hydrocephalus, Dandy-Walker ... ORPHA:7
Crouzon Syndrome
Hydrocephalus, Multiple suture craniosynostosis ORPHA:207
Desmosterolosis
Generalized osteosclerosis, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male... OMIM:602398
H Syndrome
Lipodystrophy, Hydrocephalus, Osteolysis, Azoospermia, Hypogonadism, Hernia, Camptodactyly, Micro... ORPHA:168569
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Craniosynostosis... OMIM:616914
Cole-Carpenter Syndrome 2
Osteopenia, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis ... OMIM:616294
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1946
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Umbilical hernia, Dandy-Walker malformation OMIM:612938
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Cryptorchidism, Hydrocephalus, Depression, Attention deficit hyperactivity disorder ORPHA:250989
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Micropenis, Bicoronal synostosis OMIM:619951
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Gracile Bone Dysplasia
Micropenis, Decreased skull ossification, Hydrocephalus OMIM:602361
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Inguinal hernia, Hypospadias, External... ORPHA:2658
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention def... OMIM:619575
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Inguinal hernia, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Vent... ORPHA:457284
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Hydrocephalus ORPHA:53
Aase-Smith Syndrome I
Hydrocephalus, Flexion contracture, Dandy-Walker malformation OMIM:147800
Coach Syndrome 2
Hydrocephalus OMIM:619111
Sturge-Weber Syndrome
Hyperostosis, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:3205
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Craniosynostosis, Hydrocephalus, Osteopetrosis, Calvarial osteosc... OMIM:259700
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:370959
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Hydrocephalus, Abnormal morphology of female internal genitalia, Congenital diaphrag... ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Decreased skull ossification OMIM:300863
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Crouzon Syndrome
Sagittal craniosynostosis, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:123500
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Hydrocephalus, Cranial hyperostosis, Irritability, Decreased oste... OMIM:259720
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Restrictiv... OMIM:619475
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, ... OMIM:264480
Cerebral Visual Impairment
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:447788
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Abnormal dental enamel morphology ORPHA:2180
Lateral Meningocele Syndrome
Inguinal hernia, Cryptorchidism, Hydrocephalus, Meningocele, Keloids, Sclerosis of skull base, Um... OMIM:130720
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:300514
Griscelli Syndrome
Encephalocele, Hydrocephalus, Ataxia ORPHA:381
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Self-injurious behavior, Arthr... OMIM:619512
Congenital Sialidosis Type 2
Inguinal hernia, Ataxia, Hydrocephalus, Dysmetria, Umbilical hernia ORPHA:93400
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... OMIM:612651
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Dysphagia, Ventriculomegaly ORPHA:25
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Hydrocephalus, Bifid uterus ORPHA:2736
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencep... OMIM:313850
Trisomy 17P
Hypoplasia of penis, Flexion contracture, Hydrocephalus ORPHA:261290
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Hypospadias, Cryptorchidism, Hydrocephalus, Attenti... OMIM:305450
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormally ossified vertebrae, Hydrocephalus, Vaginal atresia ORPHA:3301
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Hydrocephalus, Inguinal hernia OMIM:612940
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Congenital contracture OMIM:620156
Desmosterolosis
Increased bone mineral density, Hydrocephalus, Osteopetrosis, Ambiguous genitalia, Ventriculomegaly ORPHA:35107
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:899
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Knee flexion contracture OMIM:603387
Muenke Syndrome
Coronal craniosynostosis, Hydrocephalus ORPHA:53271
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Craniosynostosis, Hydrocephalus, Hypoplastic labia majora, Prominent ... OMIM:123790
Monosomy 9Q22.3
Hyperactivity, Ovarian fibroma, Hydrocephalus, Umbilical hernia, Ventriculomegaly ORPHA:77301
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Lateral ventricle dilatation, Normal pressure hydrocephalus, E... ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Enamel hypoplasia, Ventriculomegaly OMIM:614576
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holo... ORPHA:2166
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th... ORPHA:2437
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Achilles tendon contracture, Osteoporosis, Normal pressure hydroc... OMIM:620351
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Inguinal hernia, Craniosynostosis, Cryptorchidism, Hydrocephalus, Minimal subcutaneou... OMIM:182212
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia,... OMIM:257300
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ataxia, Reduced bone mineral density ORPHA:2720
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Hypoplastic male external... OMIM:608091
Nephronophthisis 18
Hydrocephalus OMIM:615862
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly ORPHA:1335
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:272200
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:220497
Oeis Complex
Omphalocele, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Advanced ossification of carpal bones, Camptodactyly, Joint contrac... OMIM:224400
Joubert Syndrome
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:475
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia, Ovarian neoplasm ORPHA:65285
Vacterl With Hydrocephalus
Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus... ORPHA:3412
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Dila... OMIM:613154
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hydrocephalus, Hypoplasia of the uterus,... OMIM:309801
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Hydrocephalus, Gait disturbance, Lethargy, Ventriculomegaly ORPHA:395
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, Camptodactyly OMIM:614846
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture ORPHA:1865
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Glutaric Acidemia I
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Inguinal hernia, Ovarian cyst, Subperiosteal bone format... OMIM:618188
Hemangioblastoma
Hydrocephalus ORPHA:252054
Floating-Harbor Syndrome
Restlessness, Broad-based gait, Hypospadias, Impulsivity, Aggressive behavior, Precocious puberty... ORPHA:2044
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:220493
Coccidioidomycosis
Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, Osteolysis, CSF lymphocytic pleiocytos... ORPHA:228123
Hurler Syndrome
Inguinal hernia, Hydrocephalus, Cranial hyperostosis, Flexion contracture, Hernia, Calvarial hype... OMIM:607014
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Epiphyseal stippling, Hypogonadism,... OMIM:101800
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Dubowitz Syndrome
Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity dis... ORPHA:235
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus, Delayed ossification of carpal bones OMIM:239300
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Pr... OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture OMIM:615249
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Bone cyst, Flexion contracture, Osteoly... ORPHA:3042
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi... OMIM:613776
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Ataxia ORPHA:2318
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Hydrocephalus, Attention deficit hyperactivity disorder OMIM:614083
Gaucher Disease
Osteopenia, Increased bone mineral density, Ventriculomegaly, Ataxia, Hydrocephalus, Osteolysis, ... ORPHA:355
Peho Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly ORPHA:2836
Mend Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Otopalatodigital Syndrome Type 2
Encephalocele, Omphalocele, Increased bone mineral density, Hypospadias, Camptodactyly of finger,... ORPHA:90652
Fanconi Anemia, Complementation Group R
Hydrocephalus, Radial dysplasia OMIM:617244
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Hernia of the abdominal wall ORPHA:2184
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... OMIM:234200
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Camptodactyly, Hydranencep... OMIM:260660
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Camptodactyly of finger, Epispadias, Hydrocephalus, Atten... ORPHA:2461
Apert Syndrome
Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epiphyseal ossification, Hyd... OMIM:101200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Inguinal hernia, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Os... OMIM:245600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, V... OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, C... OMIM:236670
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Inguinal hernia, Ataxia, Hydrocephalus, Gait disturbance ORPHA:1454
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Arachnoiditis
Hydrocephalus ORPHA:137817
Semilobar Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Depression, Irritability, Neural tube defe... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Depression, Irritability, Neural tube defe... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Depression, Irritability, Neural tube defe... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Depression, Irritability, Neural tube defe... ORPHA:93924
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Iniencephaly
Encephalocele, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydr... ORPHA:63259
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Craniosynostosis, Hydrocephalus, Hypoplastic male external genit... OMIM:605627
Hajdu-Cheney Syndrome
Osteopenia, Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Osteoporosis, Foot acroo... OMIM:102500
Floating-Harbor Syndrome
Inguinal hernia, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Aggressive beh... OMIM:136140
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity di... OMIM:227646
Monosomy 18Q
Choreoathetosis, Bilateral cryptorchidism, Micropenis, Hydrocephalus ORPHA:1600
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hydrocephalus, Tongue thrusting OMIM:115150
Craniopharyngioma
Hypogonadism, Hydrocephalus, Polyphagia, Hypogonadotropic hypogonadism ORPHA:54595
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... ORPHA:805
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Flexion contracture, Clitoral hypoplasia, Holoprosenc... OMIM:147791
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Delayed epiphyseal ossification, Flexion contracture, Hydrocephalus OMIM:616007
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Shprintzen-Goldberg Syndrome
Osteopenia, Communicating hydrocephalus, Inguinal hernia, Camptodactyly of finger, Craniosynostos... ORPHA:2462
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Ataxia ORPHA:97339
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Hydrocephalus, Anencephaly, Holoprosencephaly, Ambiguous genitalia OMIM:269860
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Hydrocephalus, Knee flexion contracture, Sclerosis of skull base, Delayed pubi... OMIM:618162
Alpha-Mannosidosis, Infantile Form
Osteopenia, Communicating hydrocephalus, Ataxia, Craniosynostosis, Cranial hyperostosis, Osteolys... ORPHA:309282
Tetrasomy 5P
Pericallosal lipoma, Hydrocephalus ORPHA:3309
Mend Syndrome
Cryptorchidism, Hyperactivity, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Hurler Syndrome
Hydrocephalus, Camptodactyly of finger, Hernia, Depression ORPHA:93473
Hajdu-Cheney Syndrome
Osteopenia, Inguinal hernia, Hypospadias, Hydrocephalus, Osteoporosis, Osteolysis, Hernia, Umbili... ORPHA:955
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Ab... ORPHA:580
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Hydrocephalus OMIM:618590
Pfeiffer Syndrome
Coronal craniosynostosis, Hydrocephalus OMIM:101600
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Hydrocephalus, Flexion contracture, Inguinal hernia OMIM:309900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Hydrocephalus OMIM:616482
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Testicular neoplasm, Craniosynostosis, Precocious puberty, Cryptorchidism, Hydroceph... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Testicular neoplasm, Craniosynostosis, Precocious puberty, Cryptorchidism, Hydroceph... ORPHA:363958
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Aymé-Gripp Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Cryptorchidism, Hydrocephalus... ORPHA:1272
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Cryptorchidism, Enamel hypoplasia, ... OMIM:216400
Osteogenesis Imperfecta
Osteopenia, Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Hydrocephalus, Flexion co... ORPHA:666
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Flexion contracture, Holoprosencephaly OMIM:253800
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Reduced ... ORPHA:84
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... ORPHA:268810
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Omphalocele, External genita... OMIM:249000
22Q11.2 Deletion Syndrome
Inguinal hernia, Hypospadias, Abnormal dental enamel morphology, Spina bifida, Cryptorchidism, Hy... ORPHA:567
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Holoprosencephaly
Encephalocele, Omphalocele, Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism,... ORPHA:2162
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus OMIM:617667
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Craniosynostosis ORPHA:1064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Marshall-Smith Syndrome
Omphalocele, Large sternal ossification centers, Craniosynostosis, Bilateral cryptorchidism, Cryp... OMIM:602535
Neurofibromatosis Type 1
Ataxia, Precocious puberty, Cryptorchidism, Hydrocephalus, Multiple lipomas, Attention deficit hy... ORPHA:636
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Meckel Syndrome
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, A... ORPHA:564
Raine Syndrome
Increased bone mineral density, Hydrocephalus, Subperiosteal bone formation, Arthrogryposis multi... OMIM:259775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly, Congenital contracture OMIM:613150
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostosis, Hydrocepha... ORPHA:314585
Exstrophy-Epispadias Complex
Bifid scrotum, Omphalocele, Inguinal hernia, Spina bifida, Bifid uterus, Epispadias, Cryptorchidi... ORPHA:322
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hydrocephalus, Osteopetrosis, Lateral ventricle dilatation OMIM:612301
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Craniosynostosis, Hydrocephalus, Osteoporosis, Atrophic ... ORPHA:536467
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma OMIM:600145
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Achondroplasia
Hydrocephalus ORPHA:15
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder,... ORPHA:261337
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... ORPHA:2322
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Hydrocephalus, Flexion contracture OMIM:253220
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Ovarian carci... OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Hydrocephalus, Craniofacial osteosclerosis, Spina bifida occulta, Sclerosis of skull... OMIM:300373
Osteootohepatoenteric Syndrome
Hydrocephalus, Reduced bone mineral density OMIM:619377
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353281
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Congenital diaphragmat... ORPHA:2556
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Ataxia, Cryptorchidism, Osteoporosis, Ivory epiphyses of the... OMIM:133540
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Hydrocephalus, Limb ataxia, Azoospermia, Abnormal temper tantrums, Ventriculome... ORPHA:2072
Thakker-Donnai Syndrome
Communicating hydrocephalus, Rectovaginal fistula, Congenital diaphragmatic hernia ORPHA:1780
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cryptococcosis
Hydrocephalus, Prostatitis, Osteolysis ORPHA:1546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Unsteady gait, Dysphagia ORPHA:637
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hydrocephalus, Flexion contracture, Hernia ORPHA:505248
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Mucopolysaccharidosis Type 1
Hydrocephalus, Inguinal hernia, Hernia ORPHA:579
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Hydrocephalus, Hernia, Micropenis, Dandy-Walker malf... ORPHA:264450
Tetrasomy 9P
Hyperactivity, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Oligozoospermia,... ORPHA:3310
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Hydrocephalus OMIM:277400
Meningioma
Hypogonadotropic hypogonadism, Ataxia, Hydrocephalus, Difficulty walking, Emotional lability ORPHA:2495
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Hyd... OMIM:273395
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Sagittal craniosynostosis, Cryptorchidism, ... ORPHA:221120
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypospadias, Lipoatrophy, Cryptorchidism, Hydrocephalus, Lon... OMIM:264090
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia ORPHA:220295
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Absent sternal ossification, Hypospadias, Spina bifida, Contr... OMIM:114290
Histiocytoid Cardiomyopathy
Lethargy, Hydrocephalus, Polycystic ovaries ORPHA:137675
Holoprosencephaly 7
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... OMIM:610828
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Aplasia of the right hemidiaphragm, Aggressive behavior... OMIM:619841
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus OMIM:104350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus ORPHA:163979
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Hypospadias, Impulsivity, Aggressive behavi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Hypospadias, Impulsivity, Aggressive behavi... ORPHA:353277
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Abnormal sternal ossification, Ap... OMIM:194190
Cole-Carpenter Syndrome
Communicating hydrocephalus, Abnormal dental enamel morphology ORPHA:2050
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hydrocephalus, Ataxia ORPHA:79282
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Hydrocephalus, Flexion contracture, Cervical myelopathy, Umbilical hernia OMIM:253200
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Camptodactyly of finger, Aggressive behavior, Cryptorch... OMIM:607872
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Congenital diaphragmatic hernia OMIM:154400
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Small scrotum, Craniosynostosis, Cryptorchidism, Hydrocephal... OMIM:612289
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:620305
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Achondroplasia
Hydrocephalus OMIM:100800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Flexion contracture, Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Orofaciodigital Syndrome I
Ovarian cyst, Myelomeningocele, Hydrocephalus, Enamel hypoplasia OMIM:311200
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Bicornuate uterus, M... OMIM:219000
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Reduced subcutaneous adipose tissue, Hypospadias, Ataxia, Hypogonadotropic hypogonadi... ORPHA:3455
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia, Shagreen patch ORPHA:538
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia OMIM:616084
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, H... OMIM:210710
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Ataxia ORPHA:168577
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Gait ataxia, Difficulty walking, Micropenis, Ventriculomegaly ORPHA:457359
Mohr Syndrome
Hydrocephalus OMIM:252100
Histidinemia
Hyperactivity ORPHA:2157
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Isotretinoin-Like Syndrome
Hydrocephalus, Inguinal hernia ORPHA:2306
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:268249
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Lower limb dysmetria, Bone cyst, Attention deficit hyperactivity disorder ORPHA:363700
Holoprosencephaly 9
Cryptorchidism, Micropenis, Hydrocephalus, Holoprosencephaly OMIM:610829
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Conge... OMIM:208150
Yunis-Varon Syndrome
Absent sternal ossification, Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora... ORPHA:3472
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Cryptorchidism, Hyd... OMIM:305600
Limb Body Wall Complex
Encephalocele, Ventral hernia, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, H... ORPHA:2369
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Osteopetrosis, Craniosynostosis, Reduced bone mineral density ORPHA:667
Stromme Syndrome
Hydrocephalus OMIM:243605
Baller-Gerold Syndrome
Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, Perineal fistula, Rectovaginal fistul... OMIM:218600
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Camptodactyly of 2nd-5th fingers ORPHA:1106
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:617011
Otopalatodigital Syndrome, Type Ii
Omphalocele, Hypospadias, Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Scleros... OMIM:304120
Peters Plus Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral h... ORPHA:709
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Omphalocele, Hydrocephalus OMIM:306955
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Hypoplasi... OMIM:261540
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Craniosynostosis, Ankle flexion contracture, Cryptorchidism, ... OMIM:268300
Hydrolethalus Syndrome 1
Omphalocele, Hypospadias, Bifid uterus, Anencephaly, Severe hydrocephalus, Abnormal vagina morpho... OMIM:236680
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Loeys-Dietz Syndrome 2
Inguinal hernia, Craniosynostosis, Hydrocephalus, Osteoporosis, Camptodactyly, Umbilical hernia, ... OMIM:610168
Coffin-Siris Syndrome 12
Cryptorchidism, Abnormal repetitive mannerisms, Noncommunicating hydrocephalus, Hypospadias OMIM:619325
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Anoperineal fis... OMIM:147920
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Loeys-Dietz Syndrome 1
Hydrocephalus, Craniosynostosis, Camptodactyly OMIM:609192
Costello Syndrome
Achilles tendon contracture, Hydrocephalus, Ventriculomegaly OMIM:218040
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Two... OMIM:312870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus OMIM:164210

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 Slc25a18

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 Slc25a18.

No publications found that use IMPC mice or data for Slc25a18.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc25a18tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc25a18em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Slc25a18tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc25a18tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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