Gene Summary

solute carrier family 25 (mitochondrial carrier), member 18

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 behavior Slc25a18em1(IMPC)Mbp HOM Early adult 1.41×10-15
abnormal brain morphology Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
impaired contextual conditioning behavior Slc25a18tm1b(KOMP)Wtsi HOM   Early adult 1.18×10-05
abnormal seminal vesicle morphology Slc25a18tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrocephaly Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
absent seminal vesicle Slc25a18tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased thigmotaxis Slc25a18em1(IMPC)Mbp HOM Early adult 1.42×10-15
enlarged epididymis Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
increased total body fat amount Slc25a18em1(IMPC)Mbp HOM Early adult 1.43×10-05
decreased anxiety-related response Slc25a18em1(IMPC)Mbp HOM Early adult 1.54×10-15
increased circulating alanine transaminase level Slc25a18tm1b(KOMP)Wtsi HOM Early adult 1.91×10-08
impaired glucose tolerance Slc25a18tm1b(KOMP)Wtsi HOM Early adult 3.75×10-05
abnormal epididymis morphology Slc25a18em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Slc25a18em1(IMPC)Mbp HOM Early adult 2.45×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.


XRay Images Whole Body Lateral Orientation

16 Images


XRay Images Whole Body Dorso Ventral

48 Images

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
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Atypical Teratoid Rhabdoid Tumor
Apathy, Irritability, Hydrocephalus, Ataxia ORPHA:99966
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Anxiety, Congenital diaphragmatic hernia, Hydrocephalus, Attention deficit hypera... ORPHA:261102
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Attention deficit hyperactivity disorder, Hydrocephalus, Ataxia OMIM:618709
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
1Q21.1 Microduplication Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Hypospadias, Hydrocephalus, Attention deficit... ORPHA:250994
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Immunodeficiency 8
Hyperactivity OMIM:615401
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ventriculomegaly, Ataxia, Bradykinesia, Progressive cerebellar... ORPHA:248111
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Irritability, ... ORPHA:3077
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Omphalocele, Hydrocephalus OMIM:258320
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Fried Syndrome
Gait disturbance, Hydrocephalus, Aggressive behavior ORPHA:85335
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Ataxia, Hyperactivity OMIM:613402
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Self-injurious behavior, Flexion contracture, Hydrocephalus, Dandy... OMIM:304340
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Dandy-Walker Syndrome
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus OMIM:220200
Central Neurocytoma
Lethargy, Hydrocephalus, Depression, Ataxia, Abnormal lateral ventricle morphology ORPHA:73256
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
8p23.1 deletion syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Bipolar affective disorder, Aggressive behavior, Depression, Ventriculomegaly, Se... ORPHA:485350
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Impulsivity, Hyperactivity, Hypospadia... ORPHA:8
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Ventriculomegaly, Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Neural Tube Defects, Susceptibility To
Hydrocephalus, Anencephaly, Multiple lipomas, Spina bifida occulta, Myelomeningocele, Lipoma OMIM:182940
Nasu-Hakola Disease
Disinhibition, Ventriculomegaly, Abnormal adipose tissue morphology, Irritability, Hydrocephalus ORPHA:2770
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus ORPHA:141333
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
L1 Syndrome
Gait disturbance, Hydrocephalus, Aqueductal stenosis, Depression ORPHA:275543
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Shuffling gait OMIM:303350
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Macroorchidism, Hydrocephalus OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Ventriculomegaly, Gait disturbance, Anxiety, Hydrocephalus, Attention deficit hyp... OMIM:609757
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Aggressive behavior, Hyperactivity OMIM:615824
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hypoplasia of the uterus, Hyperinsulinemia OMIM:615363
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Gait ataxia, Aggressive behavior, Ventriculomegaly, Hypospadias, Hyperactivity, D... OMIM:300354
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Bifid scrotum, Depression, Omphalocele, Ventral shortening of foreskin, Urethral ... ORPHA:95706
Holoprosencephaly, Spina bifida, Omphalocele, Hydrocephalus ORPHA:945
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Ventriculomegaly, Impulsivity, Hyp... ORPHA:500180
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Hyperactivity OMIM:300960
Hydrocephalus OMIM:148800
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Ventriculomegaly, Flexion contracture, Hydranencephaly, Hydrocephalus, Dandy-Walker mal... OMIM:225790
Temple Syndrome
Cryptorchidism, Decreased testicular size, Flexion contracture, Hydrocephalus OMIM:616222
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Macroorchidism, Hyperactivity OMIM:300143
16P13.2 Microdeletion Syndrome
Cryptorchidism, Skin-picking, Aggressive behavior, Ventriculomegaly, Gait disturbance, Flexion co... ORPHA:500055
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Ventriculomegaly, Emotional lability, Increased CSF protein, Irr... ORPHA:1929
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Ventriculomegaly, Hyperactivity, Precocious puberty, Broad-based gait OMIM:300958
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Camptodactyly of toe, Ventriculomegaly, Umbilical hernia, Inguinal hernia, Joint ... OMIM:175700
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Sotos Syndrome 3
Hyperactivity OMIM:617169
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Aggressive behavior, Hypogonadism, Hernia, Self-biting, Hyperactivity, Gonadal dy... ORPHA:3306
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Aggressive behavior, Hyperactivity ORPHA:85327
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus, Dystonia OMIM:610333
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenit... ORPHA:352490
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Central Precocious Puberty
Isosexual precocious puberty, Hydrocephalus, Premature thelarche ORPHA:759
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus OMIM:619302
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Ventriculomegaly, Hydrocephalus, Hypoplastic female external genitalia OMIM:618577
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus ORPHA:2183
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Hyperactivity, Hy... ORPHA:228402
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Decreased testicular size, Micropenis, Hydrocephalus, Dandy-Walker... OMIM:615287
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Umbilical hernia, Hypospadias, Micropenis, Hydrocephalus ORPHA:171839
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Ventriculomegaly, Flexion contracture, Hydrocephalus ORPHA:272
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia, Hyperactivity, Attention defici... OMIM:614294
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Flexion contracture, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Craniofacial Dyssynostosis
Hydrocephalus, Umbilical hernia ORPHA:1516
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperactivit... OMIM:616809
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Hypomagnesemia, Seizures, And Mental Retardation 2
Ventriculomegaly, Self-biting, Hyperactivity OMIM:618314
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Hydrocephalus OMIM:100800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Inguinal hernia, Anxiety, Dandy-Walker malformation, Hydrocephalus, Attention defi... ORPHA:459061
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hernia, Hydrocephalus OMIM:602501
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Temple Syndrome
Cryptorchidism, Precocious puberty, Hydrocephalus ORPHA:254516
Mental Retardation, Buenos Aires Type
Hypospadias, Spastic gait, Hydrocephalus OMIM:249630
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus, Umbilical hernia ORPHA:2181
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventriculomegaly, Hydrocephalus, Hypospadias OMIM:218350
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Omphalocele, Meningocele, Hypoplasia of p... ORPHA:3376
6P22 Microdeletion Syndrome
Hernia, Hydrocephalus ORPHA:251046
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Joubert Syndrome 14
Ataxia, Irritability, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Arnold-Chiari Malformation Type Ii
Difficulty walking, Ventriculomegaly, Aqueductal stenosis, Emotional lability, Meningocele, Ataxi... ORPHA:1136
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus OMIM:236690
13Q12.3 Microdeletion Syndrome
Self-mutilation, Cryptorchidism, Camptodactyly, Congenital diaphragmatic hernia, Hyperactivity ORPHA:412035
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Limb dystonia, Hyperactivity, Reduced... ORPHA:363400
Genitopalatocardiac Syndrome
Cryptorchidism, Gonadal dysgenesis, male, Male pseudohermaphroditism, Congenital diaphragmatic he... ORPHA:2075
Pallister-Hall-Like Syndrome
Micropenis, Hydrocephalus OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Irritability, Premature ovarian insufficiency, Aggressive behavior ORPHA:391307
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Hyperactivity OMIM:300624
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Hydrocephalus With Associated Malformations
Omphalocele, Hydrocephalus OMIM:236640
Cri-Du-Chat Syndrome
Self-mutilation, Cryptorchidism, Aggressive behavior, Difficulty walking, Inguinal hernia, Anxiet... OMIM:123450
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Gait disturbance, Hydrocephalus ORPHA:588
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Flexion contracture, Hydrocephalus OMIM:310400
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Chromosome 17P13.1 Deletion Syndrome
Elbow flexion contracture, Hydrocephalus, Knee flexion contracture OMIM:613776
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Hydrocephalus OMIM:600991
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Cryptorchidism, Ambiguous genitalia, Microphallus, Sex reversal, Holoprosencephaly, Ventriculomeg... OMIM:612651
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Camptodactyly of finger, Ventriculomegaly, Scrotal hypoplasi... ORPHA:261344
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Flexion contracture, Ataxia, Emotional lability, Unsteady gait, Impul... ORPHA:35069
Bresek Syndrome
Cryptorchidism, Decreased testicular size, Hydrocephalus ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 65
Attention deficit hyperactivity disorder, Ataxia, Aggressive behavior, Noncommunicating hydroceph... OMIM:619320
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus ORPHA:377
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Cryptorchidism, Spinal dysraphism, Micropenis, ... ORPHA:1926
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Umbilical hernia, Inguinal hernia, Hypospadias, Hydrocephalus OMIM:601499
Mental Retardation, Autosomal Dominant 36
Inability to walk, Ventriculomegaly, Hydrocephalus OMIM:616362
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Communicating hydrocephalus ORPHA:1237
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Holoprosencephaly, Hypoplasia of penis, Hypospadias, Hydrocephalus ORPHA:77298
Lissencephaly 5
Hydrocephalus OMIM:615191
Focal Facial Dermal Dysplasia Type Iv
Scarring, Hydrocephalus ORPHA:398189
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Lethargy, Ataxia, Progressive cerebellar ataxia, Irritability, Cerebellar ataxia associated with ... ORPHA:616
Cryptorchidism, Arrhinencephaly, Anencephaly, Abnormal fallopian tube morphology, Hydrocephalus ORPHA:2189
Floating-Harbor Syndrome
Cryptorchidism, Aggressive behavior, Epididymal cyst, Impulsivity, Anxiety, Congenital posterior ... ORPHA:2044
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis OMIM:307000
Metatropic Dysplasia
Camptodactyly of finger, Hydrocephalus ORPHA:2635
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Ventriculomegaly, Gait disturbance, Inguinal h... ORPHA:1812
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
7Q11.23 Microduplication Syndrome
Cryptorchidism, Aggressive behavior, Ventriculomegaly, Self-injurious behavior, Aplasia/Hypoplasi... ORPHA:96121
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Subcutaneous lipoma, Hydrocephalus, Multiple central nervous system lipomas, Lipo... OMIM:613001
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Tenorio Syndrome
Anxiety, Gait disturbance, Ventriculomegaly, Hydrocephalus OMIM:616260
Smith-Magenis Syndrome
Head-banging, Ventriculomegaly, Self-mutilation, Hyperactivity OMIM:182290
16P12.1P12.3 Triplication Syndrome
Skin-picking, Bilateral cryptorchidism, Nail-biting, Anxiety, Hyperactivity, Attention deficit hy... ORPHA:485405
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
Oculocerebrocutaneous Syndrome
Cryptorchidism, Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Dandy-Walker ma... ORPHA:1647
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Umbilical hernia, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Unsteady gait, Hydrocephalus OMIM:617542
19P13.12 Microdeletion Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Ventriculomegaly, Self-injurious behavior, Hy... ORPHA:254346
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Depression, Inguinal hernia, Anxiety, Hydrocephalus, Attention deficit hyperactiv... ORPHA:250989
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Gait ataxia, Microphallus, Scrotal hypoplasia, Hyperactivity, Micropenis OMIM:300486
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Emanuel Syndrome
Cryptorchidism, Ventriculomegaly, Inguinal hernia, Multiple joint contractures, Congenital diaphr... ORPHA:96170
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele, Hydrocephalus ORPHA:2736
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
19P13.3 Microduplication Syndrome
Self-injurious behavior, Unilateral cryptorchidism, Irritability, Hyperactivity, Precocious puberty ORPHA:447980
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Aggressive behavior, Camptodactyly, Ataxia, Umbilical hernia, Hyperactivity, Arth... ORPHA:369891
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Umbilical hernia, Inguinal hernia, Congenital posterior urethral... OMIM:136140
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Ventriculomegaly, Scrotal hypoplasia, Camptodactyly, Micropen... OMIM:617822
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Fg Syndrome Type 1
Cryptorchidism, Progressive flexion contractures, Ventriculomegaly, Umbilical hernia, Inguinal he... ORPHA:93932
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cryptorchidism, Hypospadias OMIM:614613
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Ventriculomegaly, Abnormality of the uterus, Hydrocephalus, Ataxia ORPHA:59315
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly, Abnormal internal genitalia OMIM:612284
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Ataxia OMIM:207950
Aase-Smith Syndrome I
Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:147800
3C Syndrome
Ventriculomegaly, Inguinal hernia, Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker ... ORPHA:7
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Aggressive behavior, Inguinal hernia, Hyperactivity, Decreased testicula... ORPHA:85293
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Spina bifida, Camptodactyly of finger, Hydranencephaly, Waddling gait, Hydro... ORPHA:2839
Von Hippel-Lindau Disease
Anxiety, Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Hydrocephalus ORPHA:1946
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Aggressive behavior, Scrotal hypoplasia, Hyperactivity, Micropenis, Broad-based gait OMIM:609625
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Ventriculomegaly, Gait disturbance, Hyperactivity, Hypospadias ORPHA:457485
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydrocephalus OMIM:314390
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia, Hypospadias, Hydrocep... ORPHA:2409
Glass Syndrome
Aggressive behavior, Camptodactyly, Inguinal hernia, Happy demeanor, Hyperactivity, Broad-based gait OMIM:612313
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Hyperactivity, Hypospadias ORPHA:363686
Thoracoabdominal Syndrome
Ventral hernia, Omphalocele, Anencephaly, Congenital diaphragmatic hernia, Hypospadias, Hydroceph... OMIM:313850
Alexander Disease
Hydrocephalus, Depression, Self-injurious behavior, Gait disturbance, Aqueductal stenosis, Emotio... ORPHA:58
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Aggressive behavior, Bifid scrotum, Camptodactyly, Penoscrotal transposition, Ane... OMIM:619148
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Aggressive behavior, Congenital finger flexion contractures, Gait disturbance, Ac... ORPHA:363528
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Proteus-Like Syndrome
Shagreen patch, Subcutaneous lipoma, Hydrocephalus, Polycystic ovaries, Communicating hydrocephalus ORPHA:2969
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Ataxia OMIM:618476
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Shawl scrotum, Hypospadias, Decreas... OMIM:617053
Hec Syndrome
Vaginal hydrocele, Communicating hydrocephalus ORPHA:2119
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Joubert Syndrome 2
Hypoplastic male external genitalia, Enlarged fossa interpeduncularis, Hydrocephalus, Ataxia OMIM:608091
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Hydrocephalus, Chordee, Hypoplasia of the uterus, Congenital diaphragmatic hernia, Hyp... OMIM:309801
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormality of the male genitalia OMIM:614886
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hydrocephalus ORPHA:2180
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Omphalocele, Hydrocephalus, Congenital diaphrag... ORPHA:1834
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligospermia, Isosexual precocious puberty, Macroorchidism, postpubertal, Hydroceph... ORPHA:91348
Coach Syndrome 2
Hydrocephalus OMIM:619111
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Inguinal hernia, Femoral hern... ORPHA:3412
Distal Tetrasomy 15Q
Hydrocele testis, Camptodactyly, Flexion contracture, Hernia, Hydrocephalus, Dandy-Walker malform... ORPHA:314588
Pseudotrisomy 13 Syndrome
Cryptorchidism, Holoprosencephaly, Omphalocele, Bicornuate uterus, Micropenis, Hydrocephalus OMIM:264480
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Cousin Syndrome
Ambiguous genitalia, male, Camptodactyly, Hydranencephaly, Wrist flexion contracture, Joint contr... OMIM:260660
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Fused labia minora, Camptodactyly, Flexion contracture, Hypoplastic labia majora, Vaginal atresia... OMIM:207410
H Syndrome
Azoospermia, Camptodactyly, Lipodystrophy, Hernia, Decreased testicular size, Hypogonadism, Micro... ORPHA:168569
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Flexion contracture, Emotional lability, Low frustration tolerance, Hyperact... OMIM:309520
Nephronophthisis 18
Hydrocephalus OMIM:615862
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Trisomy 17P
Urethral valve, Flexion contracture, Urethral stenosis, Hypoplasia of penis, Hydrocephalus ORPHA:261290
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Epididymal cyst, Bicornuate uterus, Hypospadias, Atretic vas deferens OMIM:137920
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventriculomegaly, Hypogonadism, Micropenis, Hydrocephalus OMIM:300514
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Bifid scrotum, Prominent scrotal raphe, Umbilical hernia, Hydrocephalus ORPHA:1555
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Corneal scarring, Hyperactivity, Emotional lability OMIM:256800
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Lethargy, Hydrocephalus ORPHA:2169
Walker-Warburg Syndrome
Cryptorchidism, Ventriculomegaly, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Generalized lipody... OMIM:616914
Congenital Sialidosis Type 2
Umbilical hernia, Ataxia, Inguinal hernia, Dysmetria, Hydrocephalus ORPHA:93400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Oeis Complex
Cryptorchidism, Bifid uterus, Absent scrotum, Ambiguous genitalia, male, Ambiguous genitalia, fem... OMIM:258040
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Prominent scrotal raphe, Ventriculomegaly, Hypoplastic labia majora, Hydrocephalus OMIM:123790
Crouzon Disease
Hydrocephalus ORPHA:207
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Inguinal hernia, Hyperactivity, Aplasia of the uterus, Aplasia o... ORPHA:457284
Whipple Disease
Hydrocephalus, Ataxia, Depression ORPHA:3452
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Normal pressure hydrocephalus, Spastic ataxia, Emotional lability, T... ORPHA:300570
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Opitz-Kaveggia Syndrome
Cryptorchidism, Camptodactyly, Umbilical hernia, Inguinal hernia, Multiple joint contractures, Jo... OMIM:305450
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Popov-Chang syndrome
Self-injurious behavior, Hydrocephalus OMIM:618428
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus, Ataxia OMIM:272200
Lhermitte-Duclos Disease
Ataxia, Hydrocephalus, Ovarian neoplasm ORPHA:65285
Pentalogy Of Cantrell
Omphalocele, Anencephaly, Congenital diaphragmatic hernia, Hypospadias, Hydrocephalus ORPHA:1335
Mend Syndrome
Cryptorchidism, Aggressive behavior, Hyperactivity, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Griscelli Syndrome
Hydrocephalus, Ataxia ORPHA:381
Czeizel-Losonci Syndrome
Spina bifida, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Spina bifid... ORPHA:2437
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Stankiewicz-Isidor Syndrome
Cryptorchidism, Hypospadias, Hyperactivity, Shawl scrotum, Micropenis OMIM:617516
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Mucopolysaccharidosis Type 3
Disinhibition, Aggressive behavior, Hypersexuality, Ventriculomegaly, Gait disturbance, Flexion c... ORPHA:581
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Smith-Lemli-Opitz Syndrome
Self-mutilation, Ambiguous genitalia, Cryptorchidism, Aggressive behavior, Bifid scrotum, Holopro... OMIM:270400
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus OMIM:614083
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Arthrogryposis multiplex congenita, Ambiguous genitalia, male, Ventriculomegaly, Joint contractur... OMIM:602398
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Ventriculomegaly, Hydrocephalus OMIM:614576
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Omphalocele, Umbilical hernia, Hypoplasia... ORPHA:2166
Cerebral Visual Impairment
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:447788
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ventriculomegaly, Ataxia, Limb dystonia, Athetosis, Subependymal nodules, Communicating... ORPHA:25
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Ventriculomegaly, Hypospadias, Micropenis, Hy... OMIM:257300
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Gait disturbance, Ventriculomegaly, Ataxia, Hydrocephalus ORPHA:395
Hydrocephalus ORPHA:252054
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia, Hydrocephalus ORPHA:3301
Semilobar Holoprosencephaly
Inability to walk, Lethargy, Depression, Apathy, Flexion contracture, Neural tube defect, Irritab... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Lethargy, Depression, Apathy, Flexion contracture, Neural tube defect, Irritab... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Lethargy, Depression, Apathy, Flexion contracture, Neural tube defect, Irritab... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Lethargy, Depression, Apathy, Flexion contracture, Neural tube defect, Irritab... ORPHA:93924
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Knee flexion contracture OMIM:603387
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Enlarged fossa interpeduncularis, Ataxia, Hyperactivity, Oc... OMIM:213300
Hydrocephaly-Low Insertion Umbilicus Syndrome
Hernia of the abdominal wall, Communicating hydrocephalus ORPHA:2184
Joubert Syndrome With Renal Defect
Gait disturbance, Hydrocephalus, Ataxia ORPHA:220497
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Flexion contracture, Hydrocephalus ORPHA:1865
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Peho Syndrome
Ventriculomegaly, Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture ORPHA:2836
Joubert Syndrome
Gait disturbance, Hydrocephalus, Ataxia ORPHA:475
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Hydrocephalus OMIM:615249
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hy... ORPHA:139396
Muenke Syndrome
Hydrocephalus ORPHA:53271
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Monosomy 9Q22.3
Ventriculomegaly, Umbilical hernia, Hyperactivity, Ovarian fibroma, Hydrocephalus ORPHA:77301
Jacobsen Syndrome
Cryptorchidism, Holoprosencephaly, Flexion contracture, Clitoral hypoplasia, Hypospadias, Labial ... OMIM:147791
Tuberous Sclerosis Complex
Shagreen patch, Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, H... ORPHA:805
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia OMIM:616546
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:611134
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Hydrocephalus ORPHA:137817
Seckel Syndrome 1
Enamel hypoplasia, Cryptorchidism, Hypospadias, Hyperactivity, Clitoral hypertrophy, Elbow flexio... OMIM:210600
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Spinal dysraphism, Omphaloce... ORPHA:63259
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia, Inguinal hernia, Joint... OMIM:182212
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, Hydrocephalus OMIM:616294
Joubert Syndrome With Ocular Defect
Gait disturbance, Hydrocephalus, Ataxia ORPHA:220493
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Koolen-De Vries Syndrome
Cryptorchidism, Ventriculomegaly, Impulsivity, Anxiety, Hyperactivity, Conspicuously happy dispos... OMIM:610443
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Ataxia ORPHA:2318
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Oligospermia, Abnormal ovarian morphology, Increased size of... ORPHA:95699
Atypical scarring of skin, Panniculitis, CSF lymphocytic pleiocytosis, Abnormal sperm morphology,... ORPHA:228123
Mucopolysaccharidosis, Type Vii
Inguinal hernia, Flexion contracture, Hydrocephalus, Umbilical hernia OMIM:253220
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Hurler Syndrome
Flexion contracture, Umbilical hernia, Inguinal hernia, Hernia, Hydrocephalus OMIM:607014
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Flexion contracture, Hydrocephalus, Umbilical hernia OMIM:309900
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Wa... ORPHA:722
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal dental enamel morphology, Abnormal penis morphology, Femoral hernia, Ext... ORPHA:2658
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Hydrocephalus ORPHA:763
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ataxia ORPHA:2720
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Abnormal penis morphology, Hypospadi... ORPHA:2461
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Cryptorchidism, Dystonia, Holoprosencephaly, Spinal dysraphism, Omphalocele, Congenital diaphragm... ORPHA:2162
22Q11.2 Deletion Syndrome
Cryptorchidism, Spina bifida, Abnormality of the uterus, Bipolar affective disorder, Abnormal den... ORPHA:567
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Anencephaly, Lobar holoprosencephaly, Male... ORPHA:564
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypergonadotropic hypogonadism, Micropenis, Hydrocephalus, Attention deficit hype... OMIM:227646
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Exstrophy-Epispadias Complex
Cryptorchidism, Spina bifida, Bifid uterus, Bifid scrotum, Penoscrotal transposition, Omphalocele... ORPHA:322
Dubowitz Syndrome
Cryptorchidism, Abnormality of female external genitalia, Spina bifida occulta, Hypospadias, Hydr... ORPHA:235
Ambiguous genitalia, Ventriculomegaly, Hydrocephalus ORPHA:35107
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Ventriculomegaly, Gait disturbance, Multiple joint contractures, Anxiety, Hyperac... ORPHA:464306
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Ventriculomegaly, Congenital contracture, Hypoplastic male external genitalia, Hy... OMIM:236670
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Spina bifida, Inappropriate laughter, Ventriculomegaly, Anxiety, Testicular neopl... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Spina bifida, Inappropriate laughter, Ventriculomegaly, Anxiety, Testicular neopl... ORPHA:363958
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:101800
Hyperphosphatasia With Mental Retardation Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
Apert Syndrome
Cryptorchidism, Ventriculomegaly, Vaginal atresia, Hydrocephalus OMIM:101200
Citrullinemia Type Ii
Lethargy, Irritability, Aggressive behavior, Hyperactivity ORPHA:247585
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Hurler Syndrome
Camptodactyly of finger, Hernia, Hydrocephalus, Depression ORPHA:93473
Aymé-Gripp Syndrome
Cryptorchidism, Ventriculomegaly, Camptodactyly, Inguinal hernia, Congenital diaphragmatic hernia... ORPHA:1272
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Omphalocele, Hypospadias, Myelomeningocele, Hydrocephalus ORPHA:90652
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Cryptorchidism, Amelogenesis imperfecta, Hernia, Hyperactivity OMIM:617052
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hyperactivity OMIM:618505
Fanconi Anemia
Cryptorchidism, Spina bifida, Abnormality of the uterus, Azoospermia, Absent testis, Hydrocephalu... ORPHA:84
Campomelic Dysplasia
Sex reversal, Hydrocephalus OMIM:114290
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Omphalocele, Hydrocephalus, Hypospadias OMIM:304120
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Hydrocephalus, Joint contracture of the hand OMIM:224400
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Holoprosencephaly, Omphalocele, Anencephaly, Inguinal hernia, Hydrocephalus OMIM:269860
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Cockayne Syndrome A
Cryptorchidism, Normal pressure hydrocephalus, Atypical scarring of skin, Gait disturbance, Ataxi... OMIM:216400
Apert Syndrome
Ventriculomegaly, Hydrocephalus, Ovarian neoplasm ORPHA:87
Kabuki Syndrome
Cryptorchidism, Ventriculomegaly, Congenital diaphragmatic hernia, Hypoplasia of penis, Hypospadi... ORPHA:2322
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Gait disturbance, Flexion contracture, Bilateral cryptorchidism, Hip contracture, Hypogonadism, H... ORPHA:3042
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Ambiguous genitalia, male, Omphalocele, Anencephaly, E... OMIM:249000
Tetrasomy 5P
Lipoma of corpus callosum, Hydrocephalus ORPHA:3309
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Truncal ataxia, Long penis, Flexion contracture, Reduced subcutaneous adipose tis... OMIM:264090
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Camptodactyly, Umbilical hernia, Spina bifida occulta, Hyperactivity, Joint contr... OMIM:235510
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Inguinal hernia, Congenital diaphragmatic hernia, H... ORPHA:468678
Microphthalmia With Linear Skin Defects Syndrome
Ambiguous genitalia, Abnormal dental enamel morphology, Abnormal testis morphology, Abnormal peni... ORPHA:2556
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Hydrocephalus, Umbilical hernia OMIM:253200
Thakker-Donnai Syndrome
Rectovaginal fistula, Communicating hydrocephalus, Congenital diaphragmatic hernia ORPHA:1780
Hajdu-Cheney Syndrome
Cryptorchidism, Umbilical hernia, Inguinal hernia, Hypospadias, Hydrocephalus OMIM:102500
Shprintzen-Goldberg Syndrome
Cryptorchidism, Camptodactyly of finger, Ventriculomegaly, Umbilical hernia, Inguinal hernia, Com... ORPHA:2462
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Camptodactyly of finger, Camptodactyly of toe, Hydrocephalus, Attention deficit h... ORPHA:261337
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Trisomy 8P
Cryptorchidism, Multiple joint contractures, Hernia, Micropenis, Hydrocephalus, Dandy-Walker malf... ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow flexion contracture, Hydrocephalus, Knee flexion contracture OMIM:618162
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Spastic gait, Irritability, Hyperactivity OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity