Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
forkhead box J1
Synonyms:
FKHL-13,  Hfh4,  HFH-4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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.

Phenotype associated images not available

Human diseases caused by Foxj1 mutations

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

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

The table below shows human diseases associated to Foxj1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699

The table below shows human diseases predicted to be associated to Foxj1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 40
Abnormal heart morphology, Situs inversus totalis OMIM:618300
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, En... OMIM:615382
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus OMIM:619607
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy OMIM:613873
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent outer dynein arms, Absent inner dynein arms, Infertility OMIM:613193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:615937
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... OMIM:253700
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Alobar holoprosencephaly, Hydrocepha... OMIM:609637
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Hydrocephalus, Cerebral cortical atrophy, Subcortical cerebral atr... ORPHA:2703
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Ciliary Dyskinesia, Primary, 38
Absent inner and outer dynein arms, Situs inversus totalis, Infertility, Dextrocardia OMIM:618063
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormal morphology of female internal gen... ORPHA:1926
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Situs inversus totalis, Heterotaxy, Absent inner dynein a... OMIM:613807
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Ventricular septal defect, Basal ganglia necrosis, Intra... ORPHA:79243
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular hypert... OMIM:604169
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis OMIM:612518
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Ventricular septal defect, Hypoplasia of the corpus callosum, Cry... OMIM:616816
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Hydrocepha... OMIM:604213
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Micropenis, Polymicrogyria, Bilateral cryptorchidism OMIM:300982
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis OMIM:612444
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Asymmetric septal hypertrophy OMIM:613838
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Hydrocephalus, Cortical dysplasia, Microce... OMIM:618709
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Infertility, Situs inversus totalis, Absent inner and outer dynein arms, Nasal poly... OMIM:606763
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis OMIM:617577
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis OMIM:614679
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis OMIM:617092
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Situs inversus totalis OMIM:615067
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Dilation of lateral ventricles, Hypoplasia of the c... OMIM:619420
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... OMIM:600348
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Pulmonic s... OMIM:615415
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis OMIM:615451
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Situs inversus totalis, Nasal polyposis, Abnormal axonemal organizat... OMIM:613808
Diencephalic Syndrome
Cachexia, Decreased body weight, Hydrocephalus, Long penis ORPHA:1672
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Situs inversus totalis, Absent inner and outer dynein arms, ... OMIM:614935
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Situs inversus totalis, Absent outer dynein arms, Nasal polyposis OMIM:616037
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... OMIM:616749
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Situs inversus totalis, Absent inner and outer dynein arms, ... OMIM:615444
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis OMIM:615505
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short statu... ORPHA:1908
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Urethral atresia, Transposition of the great arteries, ... OMIM:314390
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C... OMIM:607341
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Ataxia, Atrial ... OMIM:249270
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Astrocytosis, Megalencephaly, Ventriculomegaly OMIM:611087
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Dilation of lateral ventricles, Spina bifida occulta, Agenesis of corp... OMIM:618736
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Abnormal heart morphology, Ventr... ORPHA:2185
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Short stature, Situs inversus totalis, Spina bifida occulta OMIM:613686
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyo... OMIM:608751
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature ORPHA:2574
Alg2-Cdg
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:79326
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis OMIM:613095
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular hypertrophy OMIM:265400
Mental Retardation, Autosomal Dominant 48
Hypospadias, Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia... OMIM:617751
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly, Cerebral atrophy OMIM:300884
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... OMIM:619040
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Intrauterine growth retardation, Transposition of the gre... ORPHA:1913
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Classic Multiminicore Myopathy
Increased muscle lipid content, Mitral valve prolapse, Weakness of facial musculature, Right vent... ORPHA:324604
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
1Q21.1 Microduplication Syndrome
Hypospadias, Failure to thrive, Attention deficit hyperactivity disorder, Tetralogy of Fallot, Hy... ORPHA:250994
Microphthalmia-Brain Atrophy Syndrome
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Slc35A2-Cdg
Dandy-Walker malformation, Intrauterine growth retardation, Short stature, Abnormal heart morphol... ORPHA:356961
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly OMIM:619048
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Gonadal dysgenesis, male, Double outlet right ventricle, ... OMIM:231060
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Vascular dilatation, Ventriculomegaly OMIM:602200
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cyst... OMIM:600721
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Absent outer dynein arms, Male infertility, ... OMIM:244400
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Growth delay, Short stature, Hypoplastic hippocampus, Dilatio... ORPHA:208447
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Intrauterine growth retardation, Simplified gyral pattern, Prim... ORPHA:284417
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Short stature, Leukoencephalopathy, Abnormal cerebral white matter morphology, ... ORPHA:178469
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine gro... OMIM:612863
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Colpocephaly, Dextrotransposition of the great ... OMIM:618619
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis, Cerebral atrophy, Cerebral cortex with spongiform changes, Hyperintensity ... ORPHA:204
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Growth delay, Short stature, Attention deficit hyperactivity disorder, Hyperactivit... OMIM:614294
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, ... OMIM:267010
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Ventricular septal defect, Severe postnatal growth retardation, Dilate... ORPHA:3078
Cach Syndrome
Intrauterine growth retardation, Growth delay, Dysgyria, Premature ovarian insufficiency, Cerebra... ORPHA:135
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Short stature, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism,... ORPHA:2183
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy OMIM:614654
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Glutamine Deficiency, Congenital
Neonatal death, Subependymal cysts, Decreased CSF glutamine concentration, Dilation of lateral ve... OMIM:610015
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Microcephaly OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... OMIM:613156
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Obesity, ... ORPHA:141333
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Short stature, Midshaft hypospadias, Patent ductus arteriosus, Anterior hypopituita... ORPHA:2863
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Intrauterine growth retardation, Rectovag... ORPHA:1780
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Astrocytosis, Abnormal cerebral white... ORPHA:100070
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Dextrocardia
Abnormal pulmonary situs morphology, Meckel diverticulum, Abnormal lung lobation, Situs inversus ... ORPHA:1666
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Christianson Syndrome
Dystonia, Cachexia, Ventriculomegaly, Truncal ataxia, Gait ataxia ORPHA:85278
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Hypogonadism, Micropenis, Obesity OMIM:615994
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build, Ataxia OMIM:613662
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Kleeblattschaedel
Hydrocephalus OMIM:148800
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Gait disturbance, Hydrocephalus, Lethargy ORPHA:26
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Pulmonic stenosis OMIM:609008
Ciliary Dyskinesia, Primary, 11
Short stature, Ciliary dyskinesia, Abnormal ciliary motility, Abnormal central microtubular pair ... OMIM:612649
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Growth delay, Microcephaly, Hydrocele testis ORPHA:85290
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Intrauterine growth retardation, Abnormal corpus callosum morpho... ORPHA:565624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Transposition of the... OMIM:253800
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:614261
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Abnormal cilia... OMIM:610852
Thoracoabdominal Syndrome
Hypospadias, Ectopia cordis, Anencephaly, Patent ductus arteriosus, Transposition of the great ar... OMIM:313850
Renpenning Syndrome
Hypospadias, Cachexia, Growth delay, Heterotaxy, Severe short stature, Decreased testicular size ORPHA:3242
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613154
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Postnatal growth retard... OMIM:616145
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Craniofacial Dyssynostosis
Short stature, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of the corpus callosum, Umbili... ORPHA:1516
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Patent ductus arteriosus ORPHA:2978
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Short stature, Ventriculomegaly ORPHA:1933
Xfe Progeroid Syndrome
Cachexia, Severe short stature, Ventriculomegaly OMIM:610965
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Normal pressure hydroceph... ORPHA:300570
Agnathia-Otocephaly Complex
Situs inversus totalis OMIM:202650
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Hypospadias, Abnormal aortic morphology, Intrauterine growth retarda... ORPHA:251071
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Ventricular septal defect, Abnormal penis morphology, Intrauterine gro... ORPHA:2461
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:613404
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Growth delay, Abnormal latera... ORPHA:488635
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Meacham Syndrome
Hydrometrocolpos, Ventricular septal defect, Conotruncal defect, Abnormal vagina morphology, Hypo... ORPHA:3097
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... OMIM:618606
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Patent fora... OMIM:618914
Mosaic Trisomy 9
Dandy-Walker malformation, Dextrocardia, Ventricular septal defect, Intrauterine growth retardati... ORPHA:99776
Meacham Syndrome
Bicuspid aortic valve, Neonatal death, Patent ductus arteriosus, Septate vagina, Blind vagina, Co... OMIM:608978
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Dysmetria, Ataxia, Gait ataxia OMIM:618093
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Growth delay, Urethral stenosis, Displacement... ORPHA:1727
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... OMIM:608758
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Splenomegaly, Pulmonic stenosis, Right atrial enlargement, Patent ... OMIM:616028
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Small basal ganglia, Atrophy/Degenerati... ORPHA:225154
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Cerebral calcification, CSF lymphocytic pleiocytosis, Ventriculo... OMIM:610333
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Pettigrew Syndrome
Dandy-Walker malformation, Cerebral calcification, Ventriculomegaly, Hydrocephalus, Abnormality o... OMIM:304340
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Short ... OMIM:612650
Fried Syndrome
Hydrocephalus, Cerebral calcification ORPHA:85335
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventricular septal defect, Short stature, Patent ductus arteriosus, Ventriculomegaly... OMIM:218350
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Carpenter Syndrome 1
Ventricular septal defect, Short stature, External genital hypoplasia, Patent ductus arteriosus, ... OMIM:201000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the ... OMIM:617877
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Polymicrogyria, Hydrocephalus, Abnormal cardiac septum... ORPHA:83473
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy OMIM:613623
Mcdonough Syndrome
Cryptorchidism, Cachexia, Short stature ORPHA:2471
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Achondroplasia
Rhizomelia, Hydrocephalus, Megalencephaly, Neonatal short-limb short stature OMIM:100800
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis, Abnormal cerebral white matter morphology ORPHA:275864
Congenital Toxoplasmosis
Intrauterine growth retardation, Cardiomegaly, Ventriculomegaly, Hydrocephalus, Cerebral calcific... ORPHA:858
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Nasal polyposis, Ciliary dyskinesia, Immotile cilia OMIM:242680
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Arthrogryposis mu... OMIM:208085
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Temple Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Truncal obesity, Hydro... OMIM:616222
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy OMIM:600333
Lissencephaly 5
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... OMIM:615191
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus, Microcephaly OMIM:619470
Malan Overgrowth Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:420179
Ellis Van Creveld Syndrome
Hypospadias, Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Abnormal m... ORPHA:289
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney OMIM:602088
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Joubert Syndrome
Ataxia, Situs inversus totalis, Gait disturbance, Hydrocephalus ORPHA:475
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Ventriculomegaly, Cavum septum pellucidum, Hydrocephal... OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Restrictive cardiomyopathy, Car... ORPHA:85451
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria ORPHA:352682
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis OMIM:600795
Central Precocious Puberty
Hypothalamic hamartoma, Proportionate short stature, Increased circulating gonadotropin level, Is... ORPHA:759
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy OMIM:205400
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Gliosis, Lewy bodies, Dilation of lateral ventricles, Cerebral cortical ... OMIM:607485
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... ORPHA:397951
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral white matter hypoplasia, Intrauterine growth retardation, Dilated fourth ventricle, Leuk... ORPHA:572798
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... OMIM:220220
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Riboflavin Transporter Deficiency
Hypogonadism, Ataxia, Cachexia ORPHA:97229
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hypospadias, Ventricular septal defect, Intrauterine growth retardatio... OMIM:220210
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... ORPHA:488627
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Dystonia, Abnormal aortic valve morphology, Abnormal heart morphology, Failure to t... ORPHA:261197
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Distal Monosomy 10Q
Short stature, Patent ductus arteriosus, Cavum septum pellucidum, Atrial septal defect, Postnatal... ORPHA:96148
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dandy-Walker malformation, Dilated third ventricle, Hypospadias, Short stature, Colp... ORPHA:397715
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Abnormal heart morphology, Micropenis, Hydrocephalus, Anterior hypopituit... OMIM:241800
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Dandy-Walker malformation, Intrauterine growth retardation, Micropenis... OMIM:248700
Johanson-Blizzard Syndrome
Hypospadias, Dextrocardia, Abnormal vagina morphology, Intrauterine growth retardation, Short sta... ORPHA:2315
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Astrocytosis, Increased CSF protein, Diffuse spongifo... ORPHA:282166
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Right ventricular hypertrophy, Cardiomegaly, Proximal mu... ORPHA:268
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Umbilical hernia, Abnormal heart morphology, Ventriculomegaly, Hydrocephalus, Crypto... OMIM:175700
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Abnormal corpus call... ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Ventriculomegaly, Hyperactivity, Progressive cerebellar atax... ORPHA:248111
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of ... ORPHA:272
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Ventriculomegaly, Hy... OMIM:225790
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... OMIM:619302
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Left ventricular hyper... OMIM:615355
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Intrauterine growth retardation, Cachexia OMIM:616801
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Failure to thrive in infancy, Intrauterine growth retard... ORPHA:813
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... ORPHA:99095
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Intrauterine growth retardation, Rectovaginal fistula, Transposition o... OMIM:227255
Aicardi-Goutieres Syndrome 9
Pericarditis, Pericardial effusion, Intrauterine growth retardation, Cerebral calcification, Diff... OMIM:619487
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Cog5-Cdg
Intrauterine growth retardation, Short stature, Cerebral white matter atrophy, Micropenis, Diffus... ORPHA:263487
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:304100
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... ORPHA:2148
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskin... OMIM:242670
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Bicuspid pulmonary va... ORPHA:1686
Cardiofaciocutaneous Syndrome 4
Short stature, Abnormal aortic valve morphology, Abnormal ventricular septum morphology, Pulmonic... OMIM:615280
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Ververi-Brady Syndrome
Transposition of the great arteries, Short stature, Intrauterine growth retardation, Microcephaly OMIM:617982
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
19Q13.11 Microdeletion Syndrome
Hypospadias, Ventricular septal defect, Cachexia, Intrauterine growth retardation, Bifid scrotum,... ORPHA:217346
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Neu-Laxova Syndrome 1
Short umbilical cord, Dandy-Walker malformation, Ventricular septal defect, Hydranencephaly, Chor... OMIM:256520
Temple Syndrome
Small for gestational age, Short stature, Postnatal growth retardation, Hydrocephalus, Obesity, C... ORPHA:254516
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... ORPHA:1528
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Hypoplasi... OMIM:618577
Pagod Syndrome
Meningocele, Abnormal morphology of female internal genitalia, Short stature, Situs inversus tota... ORPHA:991
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Abnormal preputium morphology, Primary ... ORPHA:293725
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale OMIM:616789
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Increased C... ORPHA:298
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Growth delay, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:179613
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Patent ductus arteriosus, Abnormality of the septum pellucidum, Micropenis, Hydrocep... ORPHA:171839
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Hypospadias, Ventricular septal defect, Left superior vena cava draining... ORPHA:464738
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Intrauterine growth retardatio... OMIM:611134
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Decreased testicular size, Ventriculomegaly, Micropenis, ... OMIM:615287
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Dilation of lateral ventricles, Partial agenesis of the corpus callosum,... OMIM:617296
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine g... OMIM:612938
Aicardi Syndrome
Dilated third ventricle, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Chor... OMIM:304050
Congenital Aortic Valve Stenosis
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... ORPHA:3093
Ring Chromosome 10 Syndrome
Cachexia, Intrauterine growth retardation ORPHA:1438
Joubert Syndrome With Ocular Defect
Dextrocardia, Agenesis of corpus callosum, Hydrocephalus, Polymicrogyria ORPHA:220493
Mosaic Trisomy 1
Ventricular septal defect, Agenesis of corpus callosum, Coarctation of aorta, Micropenis, Polymic... ORPHA:1692
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Failure to thrive in infancy, Cachexia, Short stature, Ataxia ORPHA:702
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Pulmoni... ORPHA:3426
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Mend Syndrome
Dandy-Walker malformation, Short stature, Hyperactivity, Hydrocephalus, Cryptorchidism, Aortic va... OMIM:300960
Pulmonary Blastoma
Weight loss ORPHA:64741
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Ventricular septal defect, Peripheral pulmonary artery stenosis, Short s... OMIM:619575
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Microcephaly OMIM:619278
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short stature ORPHA:1389
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Abdominal situs invers... OMIM:270100
Whipple Disease
Myocarditis, Cachexia, Pericarditis, Erectile dysfunction, Ataxia, Hydrocephalus ORPHA:3452
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Cardiomegaly, Lethargy ORPHA:42
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Short stature, Abnormality of the male genitalia, Double outlet right ventricle, Pa... OMIM:614886
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Triploidy
Meningocele, Hypospadias, Intrauterine growth retardation, Holoprosencephaly, Ambiguous genitalia... ORPHA:3376
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompactio... OMIM:619167
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Megalencephaly, Thick corpus callosum, Pachygyria, Atri... OMIM:603387
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Prominent superficial veins, Agenesis of corpus c... OMIM:612940
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Short stature, Hyperactivity, Ataxia ORPHA:52503
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... ORPHA:98915
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis, Hydrocephalus, Cryptorchidism ORPHA:2701
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Thanatophoric Dysplasia Type 2
Short stature, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defec... ORPHA:93274
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... ORPHA:2822
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Abnormal left ventricular outflow tract morpholog... ORPHA:216694
Kohlschutter-Tonz Syndrome-Like
Ventricular septal defect, Intrauterine growth retardation, Ventriculomegaly, Dilation of lateral... OMIM:619229
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, Double outlet ... OMIM:306955
Thanatophoric Dysplasia
Intrauterine growth retardation, Disproportionate short-limb short stature, Patent ductus arterio... ORPHA:2655
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Short stature, Colpocephaly,... OMIM:309801
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Mental Retardation, Buenos Aires Type
Hypospadias, Partial agenesis of the corpus callosum, Atrial septal defect, Hydrocephalus, Microc... OMIM:249630
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Dextrocardia, Abnormal heart morphology, Micropenis, Tetralogy of Fall... ORPHA:96092
3C Syndrome
Dandy-Walker malformation, Hypospadias, Ventricular septal defect, Hypoplasia of penis, Short sta... ORPHA:7
Nasu-Hakola Disease
Cerebral calcification, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2770
Williams-Beuren Region Duplication Syndrome
Short stature, Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Decreas... OMIM:609757
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Atrioventricular canal defect, Coarctation of aorta, Interhypothalamic Adhesion, Mi... OMIM:618929
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Short stature, Hypogonadism, Hyperactivity, Broad-based gait, Obesity, Hypoplasia of pe... ORPHA:85293
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Short Rib-Polydactyly Syndrome
Hypospadias, Intrauterine growth retardation, Situs inversus totalis, Abnormal heart morphology, ... ORPHA:1505
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Cachexia, Arm dystonia, Axial dystonia, Oromandibular dystonia, Retrocollis, Ataxia, In... ORPHA:300605
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Primary Pulmonary Hypoplasia
Dextrocardia, Secundum atrial septal defect, Intrauterine growth retardation, Failure to thrive ORPHA:2257
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Hydrocephalus, Ventriculomegaly ORPHA:163961
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary art... ORPHA:3400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Ventricular septal defect, Growth delay, Holoprosencephaly, Patent ductus arteriosus... ORPHA:77298
Bresek Syndrome
Intrauterine growth retardation, Growth delay, Neonatal death, Hydrocephalus, Cryptorchidism, Dec... ORPHA:85284
Aredyld Syndrome
Cachexia, Intrauterine growth retardation, Short stature ORPHA:1133
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Weaver Syndrome
Absent septum pellucidum, Dilation of lateral ventricles, Cryptorchidism, Umbilical hernia, Hydro... OMIM:277590
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hydrocephalus, Cerebral atrophy OMIM:269920
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Ataxia, Truncal ataxia, Abnormal ... ORPHA:320391
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Abnormal cerebral white matter morphology OMIM:600991
Bainbridge-Ropers Syndrome
Intrauterine growth retardation, Growth delay, Dilation of lateral ventricles, Cryptorchidism, Hy... OMIM:615485
Rett Syndrome
Dystonia, Cachexia, Short stature, Truncal ataxia, Gait ataxia, Gait apraxia OMIM:312750
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive, Intrauterine growth retardation, Short stature ORPHA:371364
Tetrasomy 12P
Cachexia, Short stature ORPHA:884
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Huntington Disease-Like 2
Dystonia, Gait disturbance, Weight loss ORPHA:98934
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Coarctation of aorta, P... OMIM:300514
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular dilatation, Left ... ORPHA:563
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Hydrocephalus OMIM:236640
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Intellectual Developmental Disorder, X-Linked 30
Short stature, Hydrocephalus, Microcephaly OMIM:300558
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Short stature, Abnormal heart morphology, Hypogonadotropic hypog... ORPHA:177907
Idiopathic Pulmonary Arterial Hypertension
Right ventricular hypertrophy ORPHA:275766
Poland Syndrome
Dextrocardia OMIM:173800
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis OMIM:307000
Trisomy 18
Ventricular septal defect, Cachexia, Intrauterine growth retardation, Anencephaly, Abnormal morph... ORPHA:3380
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Disproportionate short-limb short stature, Ventriculomegaly, Small pituitary gland, ... OMIM:619479
Optic Pathway Glioma
Hydrocephalus, Growth delay, Precocious puberty ORPHA:2086
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... OMIM:600001
Flynn-Aird Syndrome
Ataxia, Cachexia ORPHA:2047
1Q44 Microdeletion Syndrome
Growth delay, Short stature, Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum morphology,... ORPHA:238769
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Short stature, Ventriculomegaly OMIM:109120
Tuberculosis
Weight loss ORPHA:3389
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Adrenocorticotropic hormone deficiency, Macroorchidism, p... ORPHA:91348
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cachexia OMIM:618186
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Ventricular septal defect, Intrauterine growth retardation, Growth de... OMIM:614576
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Intrauterine growth retardation, Hydrocephalus, Abnormal c... ORPHA:2075
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Ventriculomegaly OMIM:616362
Meckel Syndrome
Dandy-Walker malformation, True hermaphroditism, Anencephaly, Lobar holoprosencephaly, Urethral a... ORPHA:564
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Attention deficit hyperactivi... ORPHA:8
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Immotile cilia OMIM:618801
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly OMIM:615219
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus, Growth delay OMIM:612301
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal aortic morphology, Cleft palate, Truncus arteriosus, Abnormal lung ... ORPHA:2516
Distal Trisomy 5Q
Hypospadias, Dextrocardia, Ventricular septal defect, Short stature, Cryptorchidism ORPHA:96097
Krabbe Disease
Hydrocephalus, Increased CSF protein, Diffuse cerebral atrophy OMIM:245200
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Double aortic arch, P... OMIM:618780
Emanuel Syndrome
Dandy-Walker malformation, Ventricular septal defect, Truncus arteriosus, Intrauterine growth ret... ORPHA:96170
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus OMIM:601794
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal cardiac septum morphology ORPHA:93941
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis, Increased CSF protein, Cerebral cortical neurodegeneration OMIM:203700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Intrauterine growth retardation, Short stature, Colpocephaly, Absent s... OMIM:609053
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... ORPHA:2255
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Hydrocephalus, Short stature ORPHA:220295
Ring Chromosome 7 Syndrome
Hypospadias, Severe intrauterine growth retardation, Short stature, Holoprosencephaly, Situs inve... ORPHA:1449
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ventricle, Cardio... ORPHA:370959
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subva... OMIM:613001
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Chiari Malformation Type Ii
Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Halperin-Birk Syndrome