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
Situs inversus totalis, Atrial situs ambiguous, Hydrocephalus, Nasal polyposis, Abnormal heart mo... 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
Mirror Movements 3
Situs inversus totalis OMIM:616059
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Glycogen Storage Disease 0, Muscle
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... OMIM:611556
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Mitral valve prolapse, Myofiber disarray, Left ventricular hypertrophy OMIM:614676
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Total anomalous pulmonary venous re... OMIM:614779
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... OMIM:612158
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Left Isomerism, Congenitally corrected transposition of the great arterie... OMIM:618300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Dilated cardiomyopathy, Left ventric... OMIM:615248
Nephronophthisis 16
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Aortic valve stenosis, Hypertrophic c... OMIM:615382
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent outer dynein arms, Absent inner dynein arms, Infertility OMIM:613193
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Reduced sperm motility, Immotile sperm, Short stature, Abnormal central m... OMIM:612650
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Immotile sperm, Abdominal situs ambiguus, Absent outer dynein arms, Absen... OMIM:614874
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Immotile sper... OMIM:613807
Band Heterotopia
Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus OMIM:600348
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... ORPHA:206546
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis OMIM:612518
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Infertility OMIM:618063
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Atrial septal defect, Short stature, Lateral ventricle dilatation, Pat... OMIM:618330
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Diabetic Embryopathy
Spinal dysraphism, Cryptorchidism, Abnormal morphology of female internal genitalia, Micropenis, ... ORPHA:1926
Distal Duplication 14Q
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus ORPHA:1705
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... ORPHA:353
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Absent outer dynein arms, Male infertility OMIM:612444
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation OMIM:300982
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Nasal polyposis, Infertility, Absent inner and outer dynein... OMIM:606763
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Nasal polyposis, Short sperm flagella, Coiled sperm flagella, Male infert... OMIM:620197
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal... OMIM:208530
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... OMIM:618433
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Infertility, Absent respiratory ciliary axoneme radial spokes OMIM:616481
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Absent outer dynein arms, Reduced sperm motility, Infertility OMIM:615500
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Chudley-Mccullough Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Abdominal situs ambiguus OMIM:617092
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis OMIM:615451
Diencephalic Syndrome
Long penis, Decreased body weight, Cachexia, Hydrocephalus ORPHA:1672
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Double outlet ri... OMIM:605376
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Nasal polyposis, Infertility, Reduced sperm motility, Absen... OMIM:615444
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... OMIM:108900
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis OMIM:615481
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Ventricular septal defect, Abnormal CSF pyruvate family ... ORPHA:79243
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplasia of right ventricle, Atrial septal defect, Total ... OMIM:616749
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... ORPHA:1908
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... OMIM:613808
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Atrioventricular canal defect, Neonatal death, Persistent left super... OMIM:314390
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Hepatomegaly, Atrial septal defect OMIM:619881
Primary Ciliary Dyskinesia
Situs inversus totalis, Atrial situs ambiguous, Hydrocephalus, Nasal polyposis, Abnormal heart mo... ORPHA:244
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cryptorchidism, Ataxia, Atrial septal defect, Ventricular septal defect, ... OMIM:249270
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Short stature, Growth delay OMIM:614019
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Cardiomyopathy, Triceps... ORPHA:86812
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Nasal polyposis, Ventricular septal defect, Absent outer dy... OMIM:616037
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms, Nasal polyposis OMIM:614935
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Dynein arm defect of respiratory motile cilia OMIM:615505
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... OMIM:619040
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Moynahan Syndrome
Cachexia, Short stature, Hypogonadism ORPHA:2574
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613697
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Hypertrophic c... OMIM:608751
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis OMIM:615504
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Lateral ventricle d... OMIM:617751
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Myocardial fibrosis, Left ventricular hypertrophy OMIM:613873
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
1Q21.1 Microduplication Syndrome
Cryptorchidism, Tetralogy of Fallot, Hydrocephalus, Hypospadias ORPHA:250994
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Weakness of facial musculature, Muscle fiber atrophy, Right ventricu... ORPHA:324604
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Short stature, Hydrocephalus OMIM:303350
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Ventriculomegaly, Astrocytosis, Atrial septal defect OMIM:611087
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle dilatation, Agenesis of corpus... OMIM:618736
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy OMIM:619048
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... OMIM:306955
Loeffler Endocarditis
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... ORPHA:75566
Alexander Disease Type I
Failure to thrive, Cachexia, Ataxia, Hydrocephalus ORPHA:363717
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Nasal polyposis, Communicating hydrocephalus, Absent outer dynein arms, M... OMIM:244400
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613838
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Weiss-Kruszka Syndrome
Colpocephaly, Left ventricular hypertrophy, Ventricular septal defect, Dextrotransposition of the... OMIM:618619
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Congenital Disorder Of Glycosylation, Type Iid
Dandy-Walker malformation, Hydrocephalus OMIM:607091
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Azoospermia, Mitral valve prolapse,... ORPHA:2183
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Lateral ventricle dilatation OMIM:607596
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... ORPHA:860
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Abnormal heart morphology, Hydrocephalus ORPHA:2185
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Hepatomegaly, Aortic valve stenosis, ... OMIM:615415
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Hypospadias, Transposition ... OMIM:313850
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Short stature, Lateral ventricle dilatation, Ventricul... OMIM:619995
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Gait ataxia, Increased CSF lactate, Weight loss OMIM:612075
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation, Hydrocephalus OMIM:602200
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Hydrocephalus, Myelomeningocele, Unilateral vertebral arter... OMIM:613686
Craniosynostosis 6
Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle dilatation, Agenesis of corpus... OMIM:616602
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Right ventricular hypertrophy, ... OMIM:267010
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Partial agenesis of the corpus ca... OMIM:619517
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Cryptorchidism, Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus ORPHA:261102
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Pulmonic stenosis OMIM:609008
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormality of abdominal s... ORPHA:1666
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Lateral ventricle dilatation, Ventriculomegaly, Extra-axial cerebrospinal fl... OMIM:618291
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Lateral ventricle dilatation OMIM:221770
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Hydrocephalus, Atrial septal defect, Intr... OMIM:612863
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Intrau... ORPHA:1913
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive, Hydrocephalus ORPHA:26
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Right ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:444013
Thakker-Donnai Syndrome
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Intrauterine growth ... ORPHA:1780
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Biemond Syndrome Type 2
Delayed puberty, Hypogonadism, Hydrocephalus, Obesity, Short stature, Hypogonadotropic hypogonadi... ORPHA:141333
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Holoprosencephaly, Dilated... OMIM:253800
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Severe postnatal growth retardation, Lateral ventricle dilatation, Dil... ORPHA:3078
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium... OMIM:610852
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Dextrocardia, Micropenis, Coarctation of aorta, Hydrocephalus, Ven... OMIM:264480
Renpenning Syndrome
Decreased testicular size, Severe short stature, Cachexia, Heterotaxy, Growth delay, Hypospadias ORPHA:3242
Meacham Syndrome
Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atrial septal defect, Tetra... OMIM:608978
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Short stature, Ataxia, Ventriculomegaly ORPHA:1933
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Faci... OMIM:613156
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Left Isomerism, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, ... OMIM:619702
16P13.11 Microduplication Syndrome
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Kleeblattschaedel
Hydrocephalus OMIM:148800
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Midshaft hypospadias, Short stature ORPHA:2863
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Immotil... OMIM:612649
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation, Neonatal... OMIM:610015
Heterotaxy, Visceral, 4, Autosomal
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... OMIM:613751
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Micropenis, Hypogonadism, Obesity OMIM:615994
Christianson Syndrome
Gait ataxia, Cachexia, Truncal ataxia, Ventriculomegaly ORPHA:85278
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Growth delay OMIM:615716
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... ORPHA:555874
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus, Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Atrial septal defect OMIM:608629
Bilateral Generalized Polymicrogyria
Short stature, Lateral ventricle dilatation, Growth delay ORPHA:208447
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:284417
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:601494
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation, Hydrocele testis ORPHA:85290
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic lef... ORPHA:3097
Partial Atrioventricular Septal Defect
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomalous pulmonary venous r... ORPHA:1330
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ... OMIM:608758
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Camptodactyly, Left atrial enlargement, Left ventricular hypertrophy, Cardi... OMIM:300280
Cach Syndrome
Gonadal dysgenesis, Intrauterine growth retardation, Lateral ventricle dilatation, Growth delay ORPHA:135
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis OMIM:608647
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy OMIM:616733
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus OMIM:614219
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Abnormal heart v... ORPHA:169186
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Mcdonough Syndrome
Cachexia, Cryptorchidism, Short stature ORPHA:2471
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Spinocerebellar Ataxia 48
Gait ataxia, Cachexia, Ataxia, Dysmetria OMIM:618093
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... ORPHA:85451
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney OMIM:602088
Joubert Syndrome
Situs inversus totalis, Encephalocele, Gait disturbance, Ataxia, Hydrocephalus ORPHA:475
Slc35A2-Cdg
Tetralogy of Fallot, Intrauterine growth retardation, Short stature, Lateral ventricle dilatation... ORPHA:356961
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect OMIM:614261
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... OMIM:606217
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Hepatomegaly OMIM:613095
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Growth delay ORPHA:488635
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis, Short stature, Lateral ventricle dilatation, Gliosis OMIM:619847
Aortic Aneurysm, Familial Thoracic 8
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... OMIM:615436
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right ventricular hypertrophy, Right atrial enlargement, Patent foramen ovale,... OMIM:616028
Aortic Aneurysm, Familial Thoracic 6
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... OMIM:611788
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Congenitally corrected transpositio... OMIM:617205
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:619302
Mosaic Trisomy 9
Cryptorchidism, Dextrocardia, Spina bifida, Ventricular septal defect, Atrial septal defect, Dand... ORPHA:99776
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Short stature, Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Ellis Van Creveld Syndrome
Situs inversus totalis, Cryptorchidism, Dextrocardia, Abnormal morphology of female internal geni... ORPHA:289
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Lateral ventricle dilatation OMIM:618914
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect, Pulmo... ORPHA:251071
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Short stature, Spina bifida occulta,... OMIM:617877
Marden-Walker Syndrome
Situs inversus totalis, Dextrocardia, Severe short stature, Hydrocephalus, Ventricular septal def... ORPHA:2461
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Right ventricul... OMIM:612949
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Lateral ventricle dilatation, Ventriculomegal... OMIM:617397
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Intrauterine growth retardation, Cachexia OMIM:616801
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Hypogonadism ORPHA:97229
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Intrauterine growth retardation, Ventriculomegaly, C... ORPHA:858
Carpenter Syndrome 1
Cryptorchidism, External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Umb... OMIM:201000
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... ORPHA:3208
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Hepatomegaly, Ventricular sept... OMIM:613404
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... ORPHA:229
Congenital Gerbode Defect
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Abnormal tricuspid valve le... ORPHA:99095
Atrial Septal Defect 2
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... OMIM:607941
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis, Increased CSF protein concentration ORPHA:204
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Intrauterine growth retardation, Short stature,... ORPHA:2315
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Broad-based gait OMIM:618067
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Short stature, Ventriculomegaly, Patent... OMIM:218350
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... OMIM:619657
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Right ventricular hypertroph... ORPHA:268
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Interrupted aortic arch, ... ORPHA:1727
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Umbilical hernia, Abnormal heart morphology, Ventriculomegaly, Age... OMIM:175700
Conotruncal Heart Malformations
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... OMIM:217095
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Silver-Russell Syndrome
Decreased testicular size, Cryptorchidism, Precocious puberty, Obesity, Failure to thrive in infa... ORPHA:813
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Lateral ventricle dilatation OMIM:618606
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Left ventricular hypertrophy ORPHA:217607
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Chronic bronchitis, Panacinar emphysema, Bronchiectasis, Gastric varix OMIM:613490
Marden-Walker Syndrome
Cryptorchidism, Dextrocardia, Micropenis, Intrauterine growth retardation, Postnatal growth retar... OMIM:248700
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Patent foramen ovale, Lateral ventricle dilatation, Atrial septal defect OMIM:620075
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Hydrocephalus OMIM:300886
Fried Syndrome
Hydrocephalus ORPHA:85335
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus, Obesity, Isosexual precocious puberty, Increased body weight, Proportionate short ... ORPHA:759
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:83473
Noonan Syndrome 8
Pulmonic stenosis, Atrial septal defect, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Tangier Disease
Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Hepatomegaly, Splenomegaly OMIM:205400
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum, Hydrocephalus ORPHA:1528
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Intrauterine growth retardation, Cachexia, Failure to ... ORPHA:217346
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia, Agenesis of corpus callosum, Hydrocephalus ORPHA:220493
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Ciliary dyskinesia, Immotile cilia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Respiratory insufficiency due to... OMIM:615067
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Temple Syndrome
Small for gestational age, Cryptorchidism, Hydrocephalus, Obesity, Short stature, Postnatal growt... ORPHA:254516
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal heart morphology, Ventriculomegaly, Failure to thriv... ORPHA:261197
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventricular septal bulge, At... OMIM:612098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Cardiac Diverticulum
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:1686
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septa... OMIM:220210
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Patent foramen ov... OMIM:208085
Thanatophoric Dysplasia Type 2
Encephalocele, Atrial septal defect, Hydrocephalus, Holoprosencephaly, Short stature, Ventriculom... ORPHA:93274
Pagod Syndrome
Situs inversus totalis, Encephalocele, Abnormal morphology of female internal genitalia, Ambiguou... ORPHA:991
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Patent ductus arteriosus, Vascul... OMIM:220220
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated... OMIM:613154
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Left ventricular hypertrophy, Rhizomelia, Intrauterine growth retardation, Short ... OMIM:611209
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Agenesis ... OMIM:618577
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Congenital Muscular Dystrophy, Fukuyama Type
Gait disturbance, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, Dilated cardi... ORPHA:272
Mitochondrial Neurogastrointestinal Encephalomyopathy
Increased CSF protein concentration, Cachexia, Hypergonadotropic hypogonadism, Hypogonadotropic h... ORPHA:298
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Hydrocephalus OMIM:610333
Neu-Laxova Syndrome 1
Short umbilical cord, Cryptorchidism, Hydranencephaly, Spina bifida, Ventricular septal defect, D... OMIM:256520
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis, Hydrocephalus OMIM:615599
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... ORPHA:216694
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Distal Deletion 10Q
Atrial septal defect, Short stature, Lateral ventricle dilatation, Spina bifida occulta, Patent d... ORPHA:96148
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Ventriculomegaly, Bradykinesia, Gait ataxia, Broad-based g... ORPHA:248111
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Lethargy, Cachexia, Ataxia ORPHA:42
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:565624
Inherited Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Astrocytosis, Stroke-like episode ORPHA:282166
Congenital Aortic Valve Stenosis
Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Aortic valve atresia, Aortic... ORPHA:3093
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Meningocele, Rhizomelic leg shortening, Occipital encephalocele, Short stature, Lat... ORPHA:397715
Temple Syndrome
Decreased testicular size, Cryptorchidism, Small for gestational age, Overweight, Hydrocephalus, ... OMIM:616222
Noonan Syndrome 14
Cryptorchidism, Pulmonic stenosis, Short stature, Lateral ventricle dilatation, Hypertrophic card... OMIM:619745
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Pelizaeus-Merzbacher Disease
Gait disturbance, Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Choreoathetosis ORPHA:702
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short stature ORPHA:1389
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Pulmonary Blastoma
Weight loss ORPHA:64741
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Ventriculomegaly, Hydrocephalus OMIM:602501
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Short stature, Ataxia, Hydrocephalus OMIM:618174
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Intrauterine growth retardation, Lateral ventricle dilatation, Ventriculomegaly, ... ORPHA:572798
Pallister-Hall-Like Syndrome
Micropenis, Glioma, Hydrocephalus, Occipital encephalocele, Short stature OMIM:241800
Scimitar Syndrome
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left superior vena cava d... ORPHA:185
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Whipple Disease
Myocarditis, Ataxia, Hydrocephalus, Cachexia, Erectile dysfunction, Pericarditis ORPHA:3452
Cln3 Disease
Left ventricular hypertrophy ORPHA:228346
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle dil... ORPHA:457279
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum ORPHA:250972
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Cog5-Cdg
Cryptorchidism, Micropenis, Intrauterine growth retardation, Short stature, Lateral ventricle dil... ORPHA:263487
Ververi-Brady Syndrome
Intrauterine growth retardation, Short stature, Transposition of the great arteries OMIM:617982
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Left ventricular noncompaction, Hepatomegaly, Patent foramen ovale,... OMIM:619167
Truncus Arteriosus
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... ORPHA:3384
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hetero... ORPHA:3426
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Intrauterine growth retardation, Failure to thrive ORPHA:2257
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... OMIM:611134
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Postnatal growth retardation, Partial agenesis of the corpus callos... ORPHA:300570
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Right ... ORPHA:98915
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Hydrocephalus, Short stature, Peripheral pulmonary artery stenosis, La... OMIM:619575
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Lateral ventricle dilatation OMIM:607485
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Intrauterine growth retardation, Short stature, Severe failure to thrive ORPHA:371364
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:617713
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Pulmonic stenosis, Hydrocephalus, Short stature, Hypertrophic cardiomyopathy ORPHA:2701
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Hepatomegaly, Primum atrial septal defect, Complete atriovent... ORPHA:1329
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of ... OMIM:179613
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries, Aortic root aneurysm, Cerebra... OMIM:619910
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Heterotaxy, Visceral, 5, Autosomal
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Ventri... OMIM:270100
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Aredyld Syndrome
Cachexia, Intrauterine growth retardation, Short stature ORPHA:1133
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic... ORPHA:3400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum ORPHA:488627
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Patent foramen ovale, Biventricular hypertrophy, Ventricular septal... OMIM:615474
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Intrauterine growth retardation, Ventr... OMIM:225790
Triploidy
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine ... ORPHA:3376
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hydrocephalus, Umbilical hernia, Patent ductus arteriosus, Hypospadias ORPHA:171839
Aicardi-Goutieres Syndrome 9
Micropenis, Left ventricular hypertrophy, Intrauterine growth retardation, Lateral ventricle dila... OMIM:619487
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Hypoplasia of penis,... ORPHA:77298
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Ventricular septal defect, Hydrocephalus, Umbilical hernia, Intrauterine growth r... OMIM:612938
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta, Micropenis, Ventricular septal defect, Lateral ve... ORPHA:1692
3C Syndrome
Hypoplastic left heart, Pulmonic stenosis, Hydrocephalus, Ventricular septal defect, Atrial septa... ORPHA:7
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Cryptorchidism, Gait disturbance, Hydrocephalus, Short stature, Ventri... OMIM:609757
Thanatophoric Dysplasia
Atrial septal defect, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, Dispropor... ORPHA:2655
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Dextrocardia, Micropenis, Tetralogy of Fallot, Dandy-Walker malformation, Abnorma... ORPHA:96092
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Urogenital sinus anomaly, Intrauterine growth retardation, Abnormal heart... ORPHA:1505
Flynn-Aird Syndrome
Cachexia, Ataxia ORPHA:2047
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Cryptorchidism, Micropenis, Coarctation of aorta, Atrioventricular canal defect, Ag... OMIM:618929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus OMIM:613155
Weaver Syndrome
Cryptorchidism, Umbilical hernia, Lateral ventricle dilatation, Ventriculomegaly, Patent ductus a... OMIM:277590
Tetrasomy 12P
Cachexia, Short stature ORPHA:884
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation ORPHA:2148
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Bilateral cryptorchidism, Dilation of V... ORPHA:544488
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:617349
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Severe short stature, Cachexia, Failure to thrive, Ventriculomegaly OMIM:610965
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Abnormal heart morphology, Hydrocephalus OMIM:276950
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Small for gestational age, Dextrocardia, Atrial septal defect, Short stature, Failure to thrive, ... OMIM:277380
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Hypogonadism, Short stature, Cachexia, Hypoplasia of penis, Broad-base... ORPHA:85293
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Atrial septal defect, Left superior vena cava draining to coronary sin... ORPHA:464738
Ring Chromosome 7 Syndrome
Situs inversus totalis, Hypogonadism, Severe intrauterine growth retardation, Short stature, Holo... ORPHA:1449
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death OMIM:618186
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele ORPHA:1914
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Ataxia, Dif... ORPHA:320391
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Lateral ventric... OMIM:300952
Trisomy 18
Cryptorchidism, Abnormal morphology of female internal genitalia, Spina bifida, Ventricular septa... ORPHA:3380
Gabriele-De Vries Syndrome
Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation, Aortopulmonary col... OMIM:617557
Kohlschutter-Tonz Syndrome-Like
Ventriculomegaly, Intrauterine growth retardation, Lateral ventricle dilatation, Ventricular sept... OMIM:619229
Peripartum Cardiomyopathy
Myocarditis, Left atrial enlargement, Left ventricular hypertrophy, Abnormal cardiac atrium morph... ORPHA:563
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... ORPHA:99050
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Knobloch Syndrome
Dextrocardia, Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Neonat... ORPHA:85284
Rett Syndrome
Cachexia, Short stature, Gait apraxia, Gait ataxia, Truncal ataxia OMIM:312750
Tuberculosis
Weight loss ORPHA:3389
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dilatation, Abnormal preputium morp... ORPHA:293725
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Absent inner and outer dynein arms OMIM:618801
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum OMIM:207950
Optic Pathway Glioma
Growth delay, Hydrocephalus, Precocious puberty ORPHA:2086
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
X-Linked Creatine Transporter Deficiency
Cachexia, Short stature, Ataxia, Athetosis ORPHA:52503
Aicardi Syndrome
Partial agenesis of the corpus callosum, Spina bifida, Lateral ventricle dilatation, Postnatal gr... OMIM:304050
Mantle Cell Lymphoma
Weight loss ORPHA:52416
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Decreased testicular size, Cryptorchidism, Nonprogressive cerebella... OMIM:610198
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Poland Syndrome
Dextrocardia OMIM:173800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... ORPHA:2184
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Short s... OMIM:614294
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Short stature, Hydrocephalus OMIM:109120
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hydrocephalus OMIM:269920
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, Tetralogy of Fallot, Atrial septal defect, Short stature, Lateral ve... OMIM:619869
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Cachexia, Testicular neoplasm, Weight loss ORPHA:83469
1Q44 Microdeletion Syndrome
Hydrocephalus, Short stature, Ventriculomegaly, Growth delay, Abnormal cardiac septum morphology,... ORPHA:238769
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Double aortic arch, Aortopulmon... OMIM:618780
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hepatomegaly, Aortic valve stenosi... OMIM:208540
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Bainbridge-Ropers Syndrome
Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation, Growth delay, Prec... OMIM:615485
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Meckel Syndrome
Situs inversus totalis, Encephalocele, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Lobar ... ORPHA:564
Bronchogenic Cyst
Atelectasis, Abnormal pleura morphology, Dysphagia, Bronchogenic cyst, Pulmonary cyst, Abnormal s... ORPHA:2357
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Cardiac-Urogenital Syndrome