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Gene: Foxj1 MGI:1347474

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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
Ventriculomegaly, Abnormal atrial arrangement, Atrial situs ambiguous, Nasal polyposis, Situs inv... 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
Hydrocephalus, Ventriculomegaly OMIM:236600
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... 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
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... OMIM:614779
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Azoospermia, Infertility, Atrio... OMIM:618300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Nephronophthisis 16
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... OMIM:615382
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent inner dynein arms, Infertility, Absent outer dynein arms OMIM:613193
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Ciliary Dyskinesia, Primary, 12
Short stature, Situs inversus totalis, Abnormal central microtubular pair morphology of respirato... OMIM:612650
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... OMIM:614874
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... OMIM:613807
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... 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
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis OMIM:300982
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Infertility, Dextrocardia, Absent inner and outer dynein arms OMIM:618063
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Short stature, Hypospadias, Patent ductus arteriosus, Lateral ventricl... OMIM:618330
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormal morphology of female internal ... ORPHA:1926
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Infert... OMIM:606763
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Absent outer dynein arms, Male infertility OMIM:612444
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Situs inversus totalis, Coiled sperm flagella, Short sperm fla... OMIM:620197
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Infertility OMIM:616481
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Ataxia, Situs inversus totalis, Cryptorchidism, Cardiom... OMIM:249270
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Abdominal situs ambiguus OMIM:617092
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis OMIM:615451
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... OMIM:605376
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Diencephalic Syndrome
Hydrocephalus, Long penis, Cachexia, Decreased body weight ORPHA:1672
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Infert... OMIM:615444
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis OMIM:615481
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Partial agenesis of the corpus callosum, Cerebellar gliosis, Increased... ORPHA:79243
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Martsolf Syndrome 2
Lateral ventricle dilatation, Short stature, Hypogonadotropic hypogonadism OMIM:619420
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Situs inversus totalis, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Neonatal death, Atri... OMIM:314390
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal atrial arrangement, Atrial situs ambiguous, Nasal polyposis, Situs inv... ORPHA:244
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement OMIM:614022
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Lissencephaly 4
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:614019
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... OMIM:616037
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias ORPHA:250994
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Nasal polyposis, Male infertility, Absent inner and outer dynein arms OMIM:614935
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Dynein arm defect of respiratory motile cilia OMIM:615505
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... OMIM:608751
Moynahan Syndrome
Hypogonadism, Short stature, Cachexia ORPHA:2574
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis OMIM:615504
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Patent d... OMIM:617751
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... ORPHA:324604
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Ventriculomegaly, Astrocytosis OMIM:611087
Masa Syndrome
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
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, Ventricular hypertrophy, Hepatomegaly OMIM:619048
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Alexander Disease Type I
Hydrocephalus, Failure to thrive, Ataxia, Cachexia ORPHA:363717
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Nasal polyposis, Situs inversus totalis, Absent ou... OMIM:244400
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Right aortic arch, Transposition of the great arteries, G... OMIM:231060
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Basal ganglia gliosis OMIM:607596
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Colp... OMIM:618619
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Short stature, Dextrocardia ORPHA:2863
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Renpenning Syndrome
Severe short stature, Hypospadias, Cachexia, Growth delay, Heterotaxy, Decreased testicular size ORPHA:3242
Thoracoabdominal Syndrome
Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great art... OMIM:313850
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Increased CSF lactate, Gait ataxia, Failure to thrive OMIM:612075
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ventricular septal defect, Short stature, Dextrotransposition of th... OMIM:619995
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615415
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Short stature,... OMIM:613686
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic valve stenosis, Right ve... OMIM:267010
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Mitral valve prolapse, Azo... ORPHA:2183
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... OMIM:619517
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Situs inversus totalis, Abnormal lung lobation, Abno... ORPHA:1666
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Gliosis OMIM:221770
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, ... OMIM:618291
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypospadias, Transposition of the great arteries,... ORPHA:1913
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... OMIM:253800
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Cryp... ORPHA:3097
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Growth delay ORPHA:85290
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Methylmalonic Acidemia With Homocystinuria
Lethargy, Hydrocephalus, Failure to thrive, Gait disturbance ORPHA:26
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th... ORPHA:1780
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morpho... OMIM:610852
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Severe postnatal growth retardation, Lateral... ORPHA:3078
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right... OMIM:612863
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism, ... ORPHA:141333
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus... OMIM:619702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... OMIM:613156
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia, Short stature, Ventriculomegaly ORPHA:1933
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Neonatal death, Atrial septal defect, Sept... OMIM:608978
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Kleeblattschaedel
Hydrocephalus OMIM:148800
Christianson Syndrome
Cachexia, Truncal ataxia, Ventriculomegaly, Gait ataxia ORPHA:85278
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Ciliary dyskinesia, Short stature, Abnormal central microtubular pair morphology ... OMIM:612649
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation OMIM:615716
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:284417
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Obesity, Hypogonadism, Micropenis OMIM:615994
Bilateral Generalized Polymicrogyria
Growth delay, Lateral ventricle dilatation, Short stature ORPHA:208447
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Hydrocephalus, Precocious puberty in males, Optic ne... ORPHA:649929
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Joubert Syndrome 3
Atrial septal defect, Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation OMIM:600721
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... OMIM:608758
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis OMIM:608647
Cach Syndrome
Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Gonadal dysgenesis ORPHA:135
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Ellis Van Creveld Syndrome
Failure to thrive, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypo... ORPHA:289
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Cryptorchidism, Lateral ventricle dilatation, Gliosis, Micropenis OMIM:619847
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Spinocerebellar Ataxia 48
Cachexia, Ataxia, Dysmetria, Gait ataxia OMIM:618093
8P23.1 Microdeletion Syndrome
Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, ... ORPHA:251071
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Ventricular septal defect, Dextrocardia, Cryptorchidism, Atrial septal defect OMIM:618067
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney OMIM:602088
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Joubert Syndrome
Encephalocele, Ataxia, Situs inversus totalis, Hydrocephalus, Gait disturbance ORPHA:475
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Slc35A2-Cdg
Short stature, Precocious puberty, Abnormal heart morphology, Lateral ventricle dilatation, Intra... ORPHA:356961
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:619302
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus, ... OMIM:218350
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatomegaly, Dextrocardia OMIM:613095
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Mosaic Trisomy 9
Ventriculomegaly, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Spina bifida, Abn... ORPHA:99776
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology ORPHA:488635
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Silver-Russell Syndrome
Abnormality of male external genitalia, Short stature, Hypospadias, Cachexia, Failure to thrive i... ORPHA:813
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... OMIM:617205
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Patent foramen ovale, Right ventricula... OMIM:616028
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Carpenter Syndrome 1
Ventricular septal defect, Short stature, External genital hypoplasia, Precocious puberty, Crypto... OMIM:201000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Short stature ORPHA:1516
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Ventricular septal defect, Dextrocardia, Hypospa... ORPHA:2461
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Perimembranous ventricular septal defect, Transposition of the great arteries, Pul... OMIM:617877
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Lateral ventricle d... OMIM:617397
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... ORPHA:3208
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Intrauterine growth reta... OMIM:248700
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Ventricular septal defect, Hypospadias, Cachexia, Cryptorchidism, Growth delay, In... ORPHA:217346
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Congenital Toxoplasmosis
Failure to thrive in infancy, Cardiomegaly, Hydrocephalus, Intrauterine growth retardation, Ventr... ORPHA:858
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Ataxia ORPHA:97229
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Temple Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Hydroceph... ORPHA:254516
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy... OMIM:613404
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Meningocele, Abnormal morphol... ORPHA:991
Sporadic Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Gliosis, Astrocytosis ORPHA:204
Johanson-Blizzard Syndrome
Hypoplasia of penis, Failure to thrive, Short stature, Dextrocardia, Hypospadias, Abnormal vagina... ORPHA:2315
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Agenesis... OMIM:175700
22Q11.2 Duplication Syndrome
Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Short stature, Patent ductus a... OMIM:619657
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale OMIM:620075
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Fried Syndrome
Hydrocephalus ORPHA:85335
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema, Bronchiectasis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypoplastic female external genitalia... OMIM:618577
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Noonan Syndrome 8
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615355
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy OMIM:205400
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... OMIM:616034
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Dextrocardia ORPHA:220493
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Nasal polyposis, Ciliary dyskinesia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent ou... OMIM:615067
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Temple Syndrome
Short stature, Small for gestational age, Precocious puberty, Cryptorchidism, Hydrocephalus, Over... OMIM:616222
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Lateral ven... OMIM:611209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Obesity, Abnormal heart morphology, Choreoathetosis, Abnormal aortic valve morpholo... ORPHA:261197
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Intrauterine growth retardation, Increased CSF lactate ORPHA:565624
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Hypoplastic... OMIM:220210
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal... OMIM:613154
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Atrial ... ORPHA:93274
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... OMIM:220220
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Noonan Syndrome 14
Short stature, Cryptorchidism, Mitral valve prolapse, Lateral ventricle dilatation, Pulmonic sten... OMIM:619745
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Neurooculorenal Syndrome
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydro... OMIM:620305
Neu-Laxova Syndrome 1
Ventriculomegaly, Ventricular septal defect, Spina bifida, Bifid uterus, Patent foramen ovale, Pa... OMIM:256520
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Gait disturbance, Intrauterine growth retardation, Ventric... ORPHA:272
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Increased C... ORPHA:298
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Distal Deletion 10Q
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Lateral ventricle dilatati... ORPHA:96148
Juvenile Huntington Disease
Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Weight loss, ... ORPHA:248111
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Short stature, Hypospadias, Rhizomelic leg shortening,... ORPHA:397715
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Cachexia, Cardiomegaly ORPHA:42
Congenital Aortic Valve Stenosis
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... ORPHA:3093
Inherited Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Astrocytosis, Stroke-like episode ORPHA:282166
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Cog5-Cdg
Short stature, Cryptorchidism, Lateral ventricle dilatation, Intrauterine growth retardation, Mic... ORPHA:263487
Pelizaeus-Merzbacher Disease
Short stature, Ataxia, Cachexia, Failure to thrive in infancy, Choreoathetosis, Gait disturbance ORPHA:702
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Pulmonary Blastoma
Weight loss ORPHA:64741
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Short stature, Ataxia OMIM:618174
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Cln3 Disease
Left ventricular hypertrophy ORPHA:228346
Williams-Beuren Region Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Hydrocephalus, Gait disturbance, Failur... OMIM:609757
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:602501
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, Intrauterine growth retar... ORPHA:572798
Pallister-Hall-Like Syndrome
Occipital encephalocele, Glioma, Short stature, Hydrocephalus, Micropenis OMIM:241800
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus... OMIM:179613
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
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
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Intrauterine growth retardation, Failure to thrive, Dextrocardia ORPHA:2257
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph... OMIM:619167
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Heterotaxy, Hypoplastic left heart, Pul... ORPHA:3426
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Cryptorchidism, Coarctation of aorta, Micropenis, Atrioventricular canal defect, Ag... OMIM:618929
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteri... ORPHA:77298
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle di... ORPHA:457279
Whipple Disease
Pericarditis, Ataxia, Cachexia, Myocarditis, Hydrocephalus, Erectile dysfunction ORPHA:3452
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia ORPHA:371364
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Partial agenesis of the corpus callosum, Normal pressure hydrocepha... ORPHA:300570
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Ataxia, Hypospadias, Postnatal growth retardation, Cryptorchidism, ... OMIM:610198
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Umbilical hernia, Intrauterine growth r... OMIM:612938
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Micropenis, Tetralog... ORPHA:96092
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral v... ORPHA:544488
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Cryptorchidism, Lateral ventricle dilatation, Intrauterine gr... OMIM:617557
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Micropenis ORPHA:171839
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac se... ORPHA:3376
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Short stature, Hydrocephalus, Lateral ventricle dilatation, Dilated th... OMIM:619575
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Agene... OMIM:225790
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Aredyld Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:1133
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Cachexia, Cryptorchidism, Anencephaly, Gr... ORPHA:3380
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Testicular neoplasm, Ovarian neoplasm ORPHA:83469
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hypoplasia of penis, Short stature, Cachexia, Obesity, Hypogonadism, Decreased ... ORPHA:85293
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Short stature, Cryptorchidism, Growth delay, Coronary ar... OMIM:614294
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aicardi-Goutieres Syndrome 9
Pericarditis, Pericardial effusion, Lateral ventricle dilatation, Left ventricular hypertrophy, I... OMIM:619487
3C Syndrome
Ventriculomegaly, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morpholog... ORPHA:7
Mosaic Trisomy 1
Ventricular septal defect, Coarctation of aorta, Lateral ventricle dilatation, Pulmonary artery a... ORPHA:1692
Ring Chromosome 7 Syndrome
Short stature, Hypospadias, Situs inversus totalis, Hydrocele testis, Hypogonadism, Severe intrau... ORPHA:1449
Thanatophoric Dysplasia
Hydrocephalus, Patent ductus arteriosus, Disproportionate short-limb short stature, Atrial septal... ORPHA:2655
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Weaver Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Umbilic... OMIM:277590
Flynn-Aird Syndrome
Ataxia, Cachexia ORPHA:2047
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology OMIM:276950
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus OMIM:613155
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Lateral ventricle dilatation, Male urethral meatus stenos... ORPHA:464738
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Short stature, Dextrocardia, Small for gestational age, Atrial septal defect, Lethargy, Failure t... OMIM:277380
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Distal Duplication 5Q
Hypospadias, Ventricular septal defect, Dextrocardia, Short stature, Cryptorchidism ORPHA:96097
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Lateral ventricle dilatation, Ventricular septal defect, Ventric... OMIM:619229
Xfe Progeroid Syndrome
Severe short stature, Premature ovarian insufficiency, Cachexia, Failure to thrive, Ventriculomegaly OMIM:610965
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Agenesis of co... OMIM:300952
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Meckel Syndrome
Encephalocele, True hermaphroditism, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Male ... ORPHA:564
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
Knobloch Syndrome
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Tuberculosis
Weight loss ORPHA:3389
Rett Syndrome
Short stature, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia OMIM:312750
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Optic Pathway Glioma
Growth delay, Hydrocephalus, Precocious puberty ORPHA:2086
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
X-Linked Creatine Transporter Deficiency
Athetosis, Cachexia, Short stature, Ataxia ORPHA:52503
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Absent inner and outer dynein arms OMIM:618801
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Reduced sperm motility, Infertility, Difficulty walking, Truncal ataxia... ORPHA:320391
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Growth delay, Lateral ventricle dilatation, Intrauterine grow... OMIM:615485
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Aicardi Syndrome
Spina bifida, Postnatal growth retardation, Precocious puberty, Partial agenesis of the corpus ca... OMIM:304050
Poland Syndrome
Dextrocardia OMIM:173800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cardiomegaly OMIM:269920
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Situs inversus totalis, Splenomegaly, Atrial septal defect, Aortic valve stenosis, ... OMIM:208540
1Q44 Microdeletion Syndrome
Short stature, Hydrocephalus, Growth delay, Abnormal cardiac septum morphology, Agenesis of corpu... ORPHA:238769
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Short stature, Patent ductus arteriosus, Double inlet left ventricle, L... OMIM:619869
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosi... OMIM:613001
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Hydrocephalus, Short stature, Ataxia ORPHA:220295
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Cachexia ORPHA:93941
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Atrial septal defect, Intrauter... OMIM:614846
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal aortic morphology, Truncus ar... ORPHA:2516
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ... ORPHA:2357
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp OMIM:619698
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hydrocephalu... OMIM:300514
Idiopathic Pulmonary Arterial Hypertension
Right ventricular hypertrophy ORPHA:275766
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Hydrocephalus, Patent ductus arteriosus, Abn... ORPHA:2306
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Agenesis of cor... ORPHA:370959
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature OMIM:300558
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, P... OMIM:609029
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Short stature, Ventricular septal defect, Ventriculomegaly OMIM:615630
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Abnormality of the male genitalia, Hydrocephalus, Patent ductus arteriosus, Growth... OMIM:614886
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Abnormal cardiac septum m... ORPHA:2075
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, F... ORPHA:2169
Prader-Willi Syndrome Due To Translocation
Short stature, Hypogonadotropic hypogonadism, External genital hypoplasia, Patent ductus arterios... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... OMIM:615219
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Atrial septal defect, Ventriculomegaly OMIM:603387
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Agenesis of corpu... ORPHA:2189
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Abnormal aortic morphology, Intestinal atresia ORPHA:3405
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology ORPHA:1166
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... OMIM:619955
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Patent foramen ovale, Partial agenesis of the corpus callosum, Hydroce... OMIM:210710
Aortic Aneurysm, Familial Thoracic 9
High palate, Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Cryptorchidism, Hydrocephalus, M... ORPHA:96170
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... ORPHA:97339
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Halperin-Birk Syndrome
Colpocephaly, Perimembranous ventricular septal defect, Umbilical hernia, Intrauterine growth ret... OMIM:618651
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Disproportionate short-limb short stature, Micropenis,... OMIM:619479
Trisomy 1Q
Small scrotum, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus... ORPHA:261344
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Ascending aorta hypoplasia, Abnormal lung morph... ORPHA:141127
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Short stature, Postnatal growth retardation, Partial agenesis of the c... OMIM:620113
Idiopathic Achalasia
Weight loss ORPHA:930
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia OMIM:601499
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking ORPHA:300605
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrophy, Lower limb muscl... ORPHA:746
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta ORPHA:1923
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Hypospadias, Ovotestis, Hydrocephalus... OMIM:309801
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale, Hydrocephalus, Patent ductus arteriosus, Atrial ... OMIM:612582
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... ORPHA:308552
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Erythrokeratodermia Variabilis
Abnormal testis morphology, Short stature, Weight loss ORPHA:317
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... ORPHA:230851
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Broad-based gait, Cachexia, Aortic valve calcification, Hydrocephalus... ORPHA:2072
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Ataxia, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Failure to t... OMIM:619833
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... ORPHA:2255
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Ambiguous genitalia, Short stature, Hypospadias, Small for gesta... OMIM:257300
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Hydroceph... ORPHA:1335
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy ORPHA:320
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Weight loss ORPHA:30925
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Hydrocephalus, Disproportionate short-trunk short stature, Gait distur... OMIM:613330
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Gr... OMIM:614424
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Weight loss, Cardiomegaly ORPHA:85447
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... OMIM:616564
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Growth delay, Atrial septal d... OMIM:614576
Helsmoortel-Van Der Aa Syndrome
Short stature, Cryptorchidism, Mitral valve prolapse, Abnormal heart morphology, Lateral ventricl... OMIM:615873
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Vascular dilatation OMIM:219730
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Hydrocele testis, Transposition of the grea... OMIM:280000
Kabuki Syndrome 1
Ventricular septal defect, Short stature, Premature thelarche, Postnatal growth retardation, Cryp... OMIM:147920
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Agenesis of corpus cal... ORPHA:459061
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation OMIM:300863
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Bradykinesia, Weight loss, Gait disturbance, Ventriculomegaly ORPHA:157941
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia ORPHA:1876
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Short stature, Overweight, Cryptorchidism, Hydrocephalus, Hypogonadism, Gait d... ORPHA:500055
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy ORPHA:90065
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Distal Triplication 15Q
Abnormal external genitalia, Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Ab... ORPHA:314588
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defec... OMIM:263520
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Postnatal growth r... OMIM:192350
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short stature, Short umbilical cord OMIM:618367
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis ORPHA:163596
Fabry Disease
Left ventricular hypertrophy, Ventricular septal hypertrophy OMIM:301500
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Trisomy 17P
Hypoplasia of penis, Short stature, Patent ductus arteriosus, Hydrocephalus, Growth delay, Hypopl... ORPHA:261290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Lateral ventricle dilatation, Gliosis, Atrial septal defect, Micropenis OMIM:300868
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Hypospadias, Phimosis, Situs inversus totalis, Atrial s... OMIM:309500
Desmosterolosis
Rhizomelia, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Hydrocephalus, Amb... OMIM:602398
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Agenesis of corpus callosum, Colpocephaly, Atrial septa... OMIM:609053
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Hydrocephalus, Coarctation of aorta, Growth delay, Intraut... ORPHA:2409
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Tetrasomy 9P
Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Abnormal cardiac sept... ORPHA:3310
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly OMIM:619148
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Cor triatriatum, Ventricular septal defect, Dextrocardia, Short stature, Situs... OMIM:619534
Infantile Krabbe Disease
Failure to thrive, Increased CSF protein concentration, Cachexia ORPHA:206436
Monosomy 18Q
Astrocytoma, Absence of the pulmonary valve, Short stature, Secundum atrial septal defect, Left a... ORPHA:1600
Mirage Syndrome
Hypergonadotropic hypogonadism, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Microp... OMIM:617053
47,Xyy Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism, Micrope... ORPHA:8
Carpenter Syndrome 2
Dextrocardia, Bilateral cryptorchidism, Situs inversus totalis, Cryptorchidism, Obesity, Transpos... OMIM:614976
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Proximal muscle weakness in lower limbs, Atrial septal defect, Flexion cont... ORPHA:280633
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Johanson-Blizzard Syndrome
Ventricular septal defect, Short stature, Hypospadias, Septate vagina, Situs inversus totalis, Cr... OMIM:243800
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Hemangioblastoma
Hydrocephalus ORPHA:252054
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Partia... OMIM:265380
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cryptorc... OMIM:616145
Thanatophoric Dysplasia Type 1
Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Lethal short-limbed short stature,... ORPHA:1860
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent foramen ovale, Right v... OMIM:613177
Huntington Disease
Inability to walk, Weight loss, Bradykinesia, Gait disturbance, Gait imbalance, Difficulty walkin... ORPHA:399
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus ar... OMIM:130720
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal external... OMIM:607872
Nephronophthisis 18
Hydrocephalus OMIM:615862
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Arteriovenous malformation, Ventriculomegaly ORPHA:60040
Griscelli Syndrome
Encephalocele, Hydrocephalus, Short stature ORPHA:381
Desmosterolosis
Severe short stature, Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return,... ORPHA:35107
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Abnormal heart morphology ORPHA:1865
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation ORPHA:163966
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Subdural hemorrhage, Astrocytosis, Cardiomyopathy, Aortic root... ORPHA:90324
Huntington Disease-Like 2
Bradykinesia, Weight loss OMIM:606438
Fg Syndrome Type 1
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Coarctation of ... ORPHA:93932
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Arteriovenous malformation, Pu... ORPHA:974
Diets-Jongmans Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Heterotaxy, Umbilical hernia OMIM:618846
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Short stature, Hypospadias, Septate vagina, Cryptorchidi... OMIM:300166
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydroceph... ORPHA:2839
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ... ORPHA:254892
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia ORPHA:1237
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum m... ORPHA:250989
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral stenosis, Age... OMIM:617260
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Micropenis, Pulmonic steno... OMIM:301056
Primary Myelofibrosis
Cachexia ORPHA:824
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... OMIM:312870
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, M... OMIM:619951
Alkuraya-Kucinskas Syndrome
Small scrotum, Pericardial effusion, Hydrocephalus, Micropenis, Dandy-Walker malformation, Ventri... OMIM:617822
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Cryptorchidism, Muscular v... OMIM:619503
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum, Prominent superficia... OMIM:612940
Progressive Non-Fluent Aphasia
Stroke, Astrocytosis ORPHA:100070
Restrictive Dermopathy
Hypospadias, Dextrocardia, Large placenta, Patent ductus arteriosus, Ascending tubular aorta aneu... ORPHA:1662
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Bicuspid aortic valve OMIM:617168
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... ORPHA:466791
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Small for gestational age, Cryptorchidism, Hydr... OMIM:101800
Schwartz-Jampel Syndrome
Short stature, Cachexia, Umbilical hernia, Gait disturbance, Decreased body weight, Testicular to... ORPHA:800
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly ORPHA:31150
Mucolipidosis Type Ii
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Knee flexion co... ORPHA:576
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Intrauterine growth retardation, Lateral ventricle dilatation, Vesicovagina... OMIM:300896
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... OMIM:187600
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus... ORPHA:899
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Congenital Sialidosis Type 2
Cherry red spot of the macula, Umbilical hernia, Hydrocephalus, Abnormal heart morphology ORPHA:93400
Crouzon Syndrome
Hydrocephalus ORPHA:207
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Mucopolysaccharidosis, Type Ii
Severe short stature, Abnormal heart valve morphology, Short stature, Hydrocephalus, Umbilical he... OMIM:309900
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature OMIM:224400
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, Ventriculomegaly ORPHA:261250
Arachnoiditis
Hydrocephalus ORPHA:137817
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature OMIM:616294
Juvenile Polyposis Of Infancy
Short stature, Cachexia, Abnormal heart morphology, Freckled genitalia, Atrial septal defect ORPHA:79076
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Astrocytosis ORPHA:258
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Loeys-Dietz Syndrome 4
Broad uvula, Eosinophilic infiltration of the esophagus, Arterial tortuosity, High, narrow palate... OMIM:614816
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia, Uterine neoplasm ORPHA:109
Chronic Hiccup
Weight loss ORPHA:396
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Scalp-Ear-Nipple Syndrome
Cardiac myxoma, Lateral ventricle dilatation, Short stature OMIM:181270
Multiple Sulfatase Deficiency
Hydrocephalus, Short stature, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Short stature, Cachexia ORPHA:1969
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Weight loss, Severe short-limb dwarfism, Atrial septal defect, Hypertrophic cardiomyo... ORPHA:1842
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Irregular menstr... OMIM:616482
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Atrial Septal Defect, Ostium Primum Type
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement, Right atrial... ORPHA:99106
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Agenesis of corpus... OMIM:301043
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia ORPHA:3301
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... OMIM:175050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Cardiomegaly, Weight loss, Cardiomyopathy, Infertility, Erectile d... ORPHA:465508
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holop... OMIM:147791
Fanconi Anemia
Abnormality of the uterus, Atrial septal defect, Short stature, Hypospadias, Spina bifida, Crypto... ORPHA:84
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Hypogonadism, Delayed puberty, Hypertrophic cardiomyopathy, Slen... ORPHA:1328
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora OMIM:207410
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Mitral valve prolapse OMIM:104350
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphol... ORPHA:3412
Neonatal Lupus Erythematosus
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal cardiac ... ORPHA:2166
Proteus-Like Syndrome
Communicating hydrocephalus, Venous insufficiency, Hydrocephalus, Polycystic ovaries ORPHA:2969
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... ORPHA:365
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Transient ischemic attack, Proportionate short stature, Dysplastic ... ORPHA:500150
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
Mucopolysaccharidosis, Type Vii
Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal growth retardatio... OMIM:253220
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Holoprosencephaly, Micro... OMIM:612651
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Vasculitis, Disproportionate short-trunk sh... ORPHA:1855
Isaacs Syndrome
Weight loss ORPHA:84142
Gracile Bone Dysplasia
Hydrocephalus, Failure to thrive, Short stature, Micropenis OMIM:602361
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Cockayne Syndrome
Severe short stature, Ataxia, Cachexia, Postnatal growth retardation, Cryptorchidism, Inability t... ORPHA:191
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Short stature ORPHA:1834
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Anenceph... OMIM:269860
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss ORPHA:178029
Microsporidiosis
Cachexia, Myocarditis, Abnormal endometrium morphology, Endocarditis, Weight loss, Abnormal fallo... ORPHA:2552
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... OMIM:231005
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Micropenis, Ventriculome... OMIM:616546
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Patent foramen ovale, Facial palsy, Right ventricular hypertrophy OMIM:620186
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Abn... ORPHA:2059
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Muenke Syndrome
Hydrocephalus ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Wa... OMIM:614643
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia, Short stature ORPHA:2268
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Astrocytosis ORPHA:309854
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Hypospadias, Parachute mitral valve, Cryptorchidism, Patent ductus art... OMIM:618316
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect, Left ventricular hypertrophy OMIM:242840
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Dysplastic corpus callosum, Cryptorchidism, Uterus didelphys, Colpocep... OMIM:618820
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Abnormal internal genitalia, Anencephaly OMIM:612284
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Prominent scrotal raphe, Cryptorchidism, Hydrocephalus, Umbilical hernia ORPHA:1555
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Cerebrooculonasal Syndrome
Encephalocele, Postnatal growth retardation, Hydrocephalus, Hypoplastic male external genitalia, ... OMIM:605627
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Abnormal aortic va... ORPHA:3287
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Increased CSF protein concentration, Gliosis, Astrocytosis OMIM:203700
H Syndrome
Short stature, Hydrocephalus, Varicose veins, Azoospermia, Hypogonadism, Delayed puberty, Micrope... ORPHA:168569
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse, Aortic root aneurysm, Intrau... OMIM:616914
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature, Subdural hemorrhage, Umb... ORPHA:536545
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Bronchitis, Pyloric ... ORPHA:1199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... ORPHA:96121
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Agenesis of corpus c... ORPHA:228308
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia of the uterus, Agenesis of... ORPHA:457284
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Hydrocephalus, Abnormal he... ORPHA:137667
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Rhizomelic arm shorte... OMIM:101200
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... ORPHA:3304
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia ORPHA:15
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Neurofibromatosis, Type I
Astrocytoma, Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Renal artery stenos... OMIM:162200
Holocarboxylase Synthetase Deficiency
Growth delay, Lethargy, Ataxia, Weight loss ORPHA:79242
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Hydrocephalus, Gait disturbance, Lethargy, Failure to thrive, Ventriculomegaly ORPHA:395
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Cryptorchidism, H... OMIM:236670
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia OMIM:608091
Opitz-Kaveggia Syndrome
Short stature, Hypospadias, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalu... OMIM:305450
Aymé-Gripp Syndrome
Pericarditis, Short stature, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydr... ORPHA:1272
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Patent ductus arteriosus, Ovarian cyst, Stroke, Umbilical hernia, Ve... OMIM:618188
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... ORPHA:163979
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Age... OMIM:123790
Hurler Syndrome
Short stature, Hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis, Umbilical hernia OMIM:607014
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Craniopharyngioma
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Hydroce... ORPHA:54595
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Tetrasomy 5P
Postnatal growth retardation, Hydrocephalus ORPHA:3309
Monosomy 9Q22.3
Ovarian fibroma, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Ventriculomegaly ORPHA:77301
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Gm1 Gangliosidosis
Ventricular septal defect, Short stature, Ataxia, Unsteady gait, Abnormal heart morphology, Weigh... ORPHA:354
Multiple Sulfatase Deficiency
Hydrocephalus, Short stature ORPHA:585
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Short stature, Colpocephaly, Bilateral superior v... OMIM:618460
Fabry Disease
Abnormal endocardium morphology, Abnormal aortic valve morphology, Left ventricular hypertrophy, ... ORPHA:324
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Cousin Syndrome
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous... OMIM:260660
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Poland Syndrome
Encephalocele, Hypospadias, Dextrocardia, Cryptorchidism, Atrial septal defect, Spina bifida occulta ORPHA:2911
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplasia, Coarctatio... OMIM:601186
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Rhizomelia, Hydrocephalus, Patent ductus arteriosus OMIM:618162
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Celiac Disease, Susceptibility To, 1
Short stature, Ataxia, Postnatal growth retardation, Weight loss, Infertility, Delayed puberty, F... OMIM:212750
Cardiofaciocutaneous Syndrome
Short stature, Abnormal heart valve morphology, Failure to thrive in infancy, Cryptorchidism, Hyd... ORPHA:1340
Fanconi Anemia, Complementation Group D2
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocep... OMIM:227646
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Hypospadias, Myelomeningocele, Hydrocephalus, Abn... ORPHA:90652
Trisomy 8P
Dandy-Walker malformation, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, A... ORPHA:264450
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:2162
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Short stature, Hydrocephalus, Abnormal aortic valve morphology, ... ORPHA:579
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... ORPHA:330015
Kallmann Syndrome-Heart Disease Syndrome
Short stature, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the p... ORPHA:2326
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Holoprosencephaly, Atrial ... OMIM:270400
Oeis Complex
Bifid uterus, Cryptorchidism, Myelomeningocele, Ambiguous genitalia, female, Hydrocephalus, Episp... OMIM:258040
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology... ORPHA:261537
Orofaciodigital Syndrome I
Short stature, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Ovarian cyst, Agenesis... OMIM:311200
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Hurler Syndrome
Abnormal heart valve morphology, Short stature, Hydrocephalus, Growth delay, Cardiomyopathy, Endo... ORPHA:93473
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carci... OMIM:109400
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, F... ORPHA:401973
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Umbilical hernia, Aortic aneurysm OMIM:182212
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Abnormal lung lobation... ORPHA:2538
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Osteopetrosis, Autosomal Recessive 5
Short stature, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly OMIM:259720
Kabuki Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalu... ORPHA:2322
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta ORPHA:268249
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... OMIM:609192
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Growth delay, Ab... ORPHA:3464
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Leyd... ORPHA:361
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology, Growth delay, Intrauter... ORPHA:79282
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Hypospadias, Cryptorchidism, Colpocephaly, Atrial septal defect, Intra... OMIM:614866
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Dilated ... ORPHA:2556
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular neoplasm, Postnatal gr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular neoplasm, Postnatal gr... ORPHA:363958
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Atrial septal defect, Left ventricular hypertrophy, Patent foramen ovale OMIM:613610
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Fraser Syndrome 3
Hydrocephalus, Stillbirth, Small scrotum, Hypoplasia of penis OMIM:617667
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Mitral valve prolapse, Abnormal aortic valve morphol... ORPHA:2462
Hydrolethalus Syndrome 1
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Ane... OMIM:236680
Mucopolysaccharidosis, Type Vi
Short stature, Hydrocephalus, Disproportionate short-trunk short stature, Cervical myelopathy, Ca... OMIM:253200
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Ventriculomegaly, Subependymal nodules ORPHA:25
Dubowitz Syndrome
Short stature, Hypospadias, Abnormality of female external genitalia, Postnatal growth retardatio... ORPHA:235
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Webbed penis, Micropenis, Agenesis of corpus callosum, Shor... ORPHA:261552
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Abnormality of the uterus, Atrial septal defect, Short stature, ... ORPHA:567
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Flexion contracture, Left ventricular hypertrophy, Pate... OMIM:619127
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss ORPHA:216866
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Marfan Syndrome
Mitral valve calcification, Cachexia, Meningocele, Mitral valve prolapse, Slender build ORPHA:558
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Peters Plus Syndrome
Short stature, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephal... ORPHA:709
Wilson Disease
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Difficulty walking, Failu... ORPHA:905
Perry Syndrome
Bradykinesia, Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm ORPHA:2221
Marshall-Smith Syndrome
Ventricular septal defect, Short stature, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus... OMIM:602535
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the co... OMIM:619512
Hajdu-Cheney Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus, ... OMIM:102500
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Partial anomalous pulmonary venous return, Bicuspid aortic valve, Right ventric... OMIM:150230
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Short stature, Partial agenesis of the corpus callosum, Patent ductus ... OMIM:300373
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus OMIM:620351
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricular septal defect, Coro... OMIM:619472
Pleural Mesothelioma
Weight loss ORPHA:50251
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Nijmegen Breakage Syndrome
Short stature, Cachexia ORPHA:647
Polymyositis
Pericarditis, Dilated cardiomyopathy, Weight loss, Gait disturbance, Abnormal mitral valve morpho... ORPHA:732
Follicular Lymphoma
Weight loss ORPHA:545
Polyarteritis Nodosa
Cardiomyopathy, Pericarditis, Weight loss ORPHA:767
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, Abnormality of the male genitalia, CSF ... ORPHA:228123
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Hypospadias, Cryptorchidism, Colpocephaly, Penile hypospadias OMIM:620083
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy, Growth delay OMIM:616084
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Full Nf2-Related Schwannomatosis
Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma ORPHA:637
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Intrauterine growth ret... OMIM:619321
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Failure to thrive, Dandy-Wal... OMIM:300960
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Patent ductus arteriosus, Abnorma... ORPHA:1708
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale ORPHA:96149
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Short stature, Aqueductal stenosis, Hydrocephalus, Patent ductus arter... OMIM:154400
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Cryptorchidism, Hydrocephalus, Stillbirth, Short umbilical cord, Small... OMIM:208150
Cockayne Syndrome A
Short stature, Ataxia, Cryptorchidism, Irregular menstruation, Severe postnatal growth retardatio... OMIM:216400
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Stroke-like episode, Polycystic ovaries, ... ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Choreoacanthocytosis
Lateral ventricle dilatation, Dilated cardiomyopathy ORPHA:2388
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
15Q Overgrowth Syndrome
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... ORPHA:314585
Cardiofaciocutaneous Syndrome 1
Short stature, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:115150
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Sturge-Weber Syndrome
Hydrocephalus, Stroke, Abnormal cerebral vascular morphology ORPHA:3205
Fontaine Progeroid Syndrome
Atrial septal defect, Failure to thrive, Small scrotum, Bicuspid aortic valve, Short stature, Sma... OMIM:612289
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Postnatal growth retardation, Short stature ORPHA:168577
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydroceph... ORPHA:261337
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Hydrocephalus, Short stature OMIM:616007
Alexander Disease
Ataxia, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Gait disturbance, Failure to thrive ORPHA:58
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Weight loss OMIM:617321
Fanconi Anemia, Complementation Group L
Hydrocephalus, Growth delay, Aplasia of the uterus, Intrauterine growth retardation, Micropenis OMIM:614083
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocephalus, Epispadias, Cystocele, ... ORPHA:322
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Postnatal growth retardation, Hydrocephalus, Mitral valve prolapse, Asc... ORPHA:536467
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia asso... ORPHA:616
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Cryptorchidism, Colpocephaly, Chordee, Patent foramen ovale ORPHA:477993
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Abnormal pericardium morphology, Myocarditis, Endocarditis, Weight loss, Gait di... ORPHA:183
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cardiomegaly, Postnatal growth retardation... ORPHA:3472
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Short stature, Hypospadias, Small for gestational age, Precocious pube... OMIM:194190
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Short stature, Hypogonadotropic hypogonadism, Abnormal external genitalia, Ab... ORPHA:90794
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Cystic Echinococcosis
Ovarian cyst, Weight loss, Abnormality of the testis size, Abnormal heart morphology ORPHA:400
Mohr Syndrome
Hydrocephalus, Short stature OMIM:252100
Proteus Syndrome
Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Long penis, Ovarian neoplasm, Sirenom... ORPHA:744
Pfapa Syndrome
Weight loss ORPHA:42642
Mast Cell Sarcoma
Weight loss ORPHA:66661
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Crypto... ORPHA:2658
Stickler Syndrome
Slender build, Short stature, Cachexia, Mitral valve prolapse ORPHA:828
Norrie Disease
Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to thrive, Delayed puberty ORPHA:649
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Hypertr... ORPHA:505248
Hajdu-Cheney Syndrome
Ventricular septal defect, Short stature, Hypospadias, Patent ductus arteriosus, Hydrocephalus, A... ORPHA:955
Mucopolysaccharidosis Type 3
Cardiomegaly, Hydrocephalus, Umbilical hernia, Abnormal aortic valve morphology, Abnormal mitral ... ORPHA:581
Holt-Oram Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return ORPHA:392
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Holoprosencephaly 9
Short stature, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosen... OMIM:610829
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st... ORPHA:353277
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Patent ductus arteriosus, ... ORPHA:980
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Abnormal aortic... ORPHA:1052
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss ORPHA:411703
Peters-Plus Syndrome
Hypoplasia of the vagina, Ventricular septal defect, Rhizomelia, Hypospadias, Postnatal growth re... OMIM:261540
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Left ventricular hypertrophy, Hypert... OMIM:220111
Cockayne Syndrome B
Severe short stature, Ataxia, Small for gestational age, Postnatal growth retardation, Cryptorchi... OMIM:133540
Perry Syndrome
Weight loss ORPHA:178509
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Sho... ORPHA:355
Rhabdoid Tumor
Weight loss ORPHA:69077
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... ORPHA:91347
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morph... OMIM:219000
Focal Myositis
Weight loss ORPHA:48918
Gerstmann-Straussler Disease
Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia OMIM:137440
Solitary Fibrous Tumor
Vaginal neoplasm, Weight loss, Prostate cancer, Abnormal prostate morphology, Uterine neoplasm ORPHA:2126
Peripheral Primitive Neuroectodermal Tumor
Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neoplasm of the scrotum, Uterine... ORPHA:370348
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Floating-Harbor Syndrome
Broad-based gait, Short stature, Hypospadias, Small for gestational age, Precocious puberty, Cryp... ORPHA:2044
Raine Syndrome
Neonatal death, Hydrocephalus, Short stature OMIM:259775
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Agenes... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Agenes... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Agenes... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Agenes... ORPHA:220386
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Broad-based gait, Failure to thrive, Ventricular septal defect, Bicuspid aortic va... OMIM:619475
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Immunodeficiency 27A
Weight loss OMIM:209950
Osteogenesis Imperfecta
Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorrhage, Hydrocephalus, N... ORPHA:666
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia, Chylopericardium, Pulmonary lymp... ORPHA:538
Familial Colorectal Cancer Type X
Weight loss, Ovarian neoplasm, Gait disturbance, Cardiac diverticulum, Uterine neoplasm ORPHA:440437
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Al Amyloidosis
Abnormal cardiac ventricle morphology, Abnormal heart morphology, Autonomic erectile dysfunction,... ORPHA:85443
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, Myocardial cal... ORPHA:75565
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Camptodactyly of finger, Pulmonic stenosis, Abnormal heart morphology ORPHA:284984
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Hydrocephalus, Failure to thrive OMIM:277400
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele ORPHA:71273
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Coarctation of aorta, Mitr... ORPHA:371428
2Q37 Microdeletion Syndrome
Pyloric stenosis, Abnormal aortic morphology ORPHA:1001
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Lynch Syndrome
Ovarian neoplasm, Weight loss, Gait disturbance, Cardiac diverticulum ORPHA:144
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Weight loss, Abnormal heart morphology, Intrauterine growth retardation, Failure to thrive ORPHA:99885
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss ORPHA:95427
Neurofibromatosis Type 1
Astrocytoma, Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Arterial stenosis,... ORPHA:636
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Sex rever... OMIM:114290
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Patent foramen ovale, Short stature ORPHA:221120
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Constricting Bands, Congenital
Encephalocele, Ectopia cordis OMIM:217100
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Weight loss ORPHA:330001
Otopalatodigital Syndrome, Type Ii
Short stature, Hypospadias, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydroceph... OMIM:304120
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... ORPHA:363700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Absent pulmonary artery, Cleft palate, Coarctation of aorta, Tetralogy ... OMIM:600460
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus, Short stature ORPHA:1106
Thymic Carcinoma
Weight loss ORPHA:99868
Kaposi Sarcoma
Weight loss ORPHA:33276
Costello Syndrome
Ventricular septal defect, Short stature, Hydrocephalus, Mitral valve prolapse, Pulmonic stenosis... OMIM:218040
Leishmaniasis
Weight loss ORPHA:507
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hypospadias, Enlarged labia minora, Postnatal growth retardation, Cryp... OMIM:268300
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Weight loss ORPHA:188
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Gait disturbance ORPHA:3042
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Camptod... OMIM:613795
Osteosarcoma
Weight loss ORPHA:668
Poems Syndrome
Pericardial effusion, Hypogonadism, Erectile dysfunction, Weight loss ORPHA:2905
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Hydrocephalus, Growth delay, Abnormal pulmonary valve morphology ORPHA:667
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dilated cardiomyopathy, Dysmetria, Gait ataxia, Mitral valve prolapse, ... OMIM:607459
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Hypospadias, Weight loss, Micropenis, Hypertrophic cardiomyopathy OMIM:613673
Chronic Beryllium Disease
Weight loss ORPHA:133
Primary Intestinal Lymphangiectasia
Pericardial effusion, Growth delay, Weight loss ORPHA:90362
Floating-Harbor Syndrome
Short stature, Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Atrial septal... OMIM:136140
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Fatal Familial Insomnia
Ataxia, Weight loss OMIM:600072
Baller-Gerold Syndrome
Severe short stature, Short stature, Hydrocephalus, Abnormal heart morphology, Perineal fistula, ... OMIM:218600
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Erdheim-Chester Disease
Ataxia, Abnormal pericardium morphology, Hypogonadotropic hypogonadism, Weight loss, Abnormal aor... ORPHA:35687
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Dysphagia, Recurrent bronchitis, Aortic ... ORPHA:63
Genitopatellar Syndrome
Small scrotum, Ventricular septal defect, Enlarged labia minora, Cryptorchidism, Colpocephaly, La... OMIM:606170
Bullous Pemphigoid
Weight loss ORPHA:703
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Felty Syndrome
Pericarditis, Weight loss ORPHA:47612
Cap Polyposis
Weight loss ORPHA:160148
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Liposarcoma
Weight loss ORPHA:69078
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Late-Onset Isolated Acth Deficiency
Lethargy, Failure to thrive, Premature ovarian insufficiency, Weight loss ORPHA:199299
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypospadias, Small for gestational age, Secundum atrial septal defect, Cryptorchid... OMIM:264090
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Gait ataxia, Difficulty walking, Micropen... ORPHA:457359
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Double outlet r... ORPHA:163956
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus... OMIM:619841
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Meningioma
Hypogonadotropic hypogonadism, Ataxia, Hydrocephalus, Obesity, Impotence, Difficulty walking, Ame... ORPHA:2495
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Dilated cardiomyopathy, Ataxia, Weight loss ORPHA:20
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypogonadotropic hypogonadism, Ataxia, Hypospadias, Cryptorchidism, Congenital mal... ORPHA:3455
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Weight loss ORPHA:100080
Acute Promyelocytic Leukemia
Metrorrhagia, Weight loss ORPHA:520
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne... ORPHA:1018
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Increased body weight, Weight loss ORPHA:1501
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Shuffling gait, Akinesia, Weight loss ORPHA:411602
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... OMIM:616652
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Maternal Phenylketonuria
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Hypoplastic left hear... ORPHA:2209
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Weight loss ORPHA:37
6Q Terminal Deletion Syndrome
Colpocephaly, Hypospadias, Phimosis ORPHA:75857
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Abnormal pericardium morphology, Weight loss ORPHA:679
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Weight loss ORPHA:97287
Focal Dermal Hypoplasia
Short stature, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypop... OMIM:305600
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal giant-cell astrocytoma, Cardiac rhabdomyoma, Pulmona... ORPHA:805
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele ORPHA:49041
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Weight loss ORPHA:67
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
African Trypanosomiasis
Pericarditis, Akinesia, Abnormality of the menstrual cycle, Myocarditis, Myelopathy, Weight loss,... ORPHA:3385
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Growth delay, Short stature ORPHA:1667
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Weight loss ORPHA:100082
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocep... ORPHA:573278
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Charge Syndrome
External genital hypoplasia, Secundum atrial septal defect, Holoprosencephaly, Atrial septal defe... OMIM:214800
Nephroblastoma
Weight loss ORPHA:654
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Weight loss ORPHA:139402
Oromandibular Dystonia
Weight loss ORPHA:93958
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, W... ORPHA:781
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... ORPHA:2298
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Pemphigus Vulgaris
Weight loss ORPHA:704
Beta-Ketothiolase Deficiency
Ataxia, Weight loss ORPHA:134
Ménétrier Disease
Weight loss ORPHA:2494
Addison Disease
Primary testicular failure, Premature ovarian insufficiency, Decreased female libido, Weight loss... ORPHA:85138
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Umbilical hernia ORPHA:309282
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Abnormal vagina morphology, Weight loss ORPHA:537
Behçet Disease
Pericarditis, Ataxia, Orchitis, Endocarditis, Weight loss, Gait disturbance, Abnormal myocardium ... ORPHA:117
Thymoma
Prostate neoplasm, Weight loss ORPHA:99867
Rheumatoid Arthritis
Weight loss OMIM:180300
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Down Syndrome
Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Pulmonary arter... OMIM:190685
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Decreased fertility, Weight loss, Gonadal calcification, Testicular m... ORPHA:60025
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Simple Cryoglobulinemia
Pericarditis, Weight loss, Abnormal heart morphology ORPHA:91139
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Stevens-Johnson Syndrome
Abnormal myocardium morphology, Dyspareunia, Weight loss ORPHA:36426
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Riddle Syndrome
Gait disturbance, Short stature, Ataxia, Weight loss ORPHA:420741
Refractory Celiac Disease
Weight loss ORPHA:398063
Coffin-Siris Syndrome 12
Short stature, Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus, Tetralogy of Fallot, ... OMIM:619325
Acute Adrenal Insufficiency
Weight loss, Failure to thrive, Decreased female libido, Delayed puberty ORPHA:95409
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Oculopharyngodistal Myopathy 1
Ataxia, Dilated cardiomyopathy, Weight loss, Difficulty walking, Hypertrophic cardiomyopathy OMIM:164310
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Brucellosis
Pericarditis, Small for gestational age, Orchitis, Myocarditis, Epididymitis, Endocarditis, Weigh... ORPHA:1304
Alveolar Echinococcosis
Ataxia, Abnormal pericardium morphology, Weight loss ORPHA:284
Pneumocystosis
Weight loss ORPHA:723
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Hermansky-Pudlak Syndrome
Cardiomyopathy, Menometrorrhagia, Weight loss ORPHA:79430
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... OMIM:164210
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Bifid tongue, Ectopic anus, Abnormal aortic morphology, Tetralo... ORPHA:1507
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Weight loss OMIM:615846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Cystinosis, Nephropathic
Male infertility, Short stature, Failure to thrive in infancy, Weight loss, Growth delay, Delayed... OMIM:219800
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Female hypogonadism, Delaye... ORPHA:740
Juvenile Dermatomyositis
Cardiomyopathy, Pericarditis, Weight loss ORPHA:93672
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Weight loss ORPHA:100075
Immunodeficiency 31C
Growth delay, Weight loss, Short stature, Delayed puberty OMIM:614162
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outlet r... OMIM:618223
Budd-Chiari Syndrome
Weight loss ORPHA:131
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, At... OMIM:249420
Postinfectious Vasculitis
Orchitis, Cardiomyopathy, Bacterial endocarditis, Weight loss ORPHA:48435
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Granulomatosis With Polyangiitis
Nasal mucosa vasculitis, Weight loss OMIM:608710
Rat-Bite Fever
Myocarditis, Pericarditis, Endocarditis, Weight loss ORPHA:31205
Castleman Disease
Restrictive cardiomyopathy, Weight loss ORPHA:160
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Cor pulmonale, Abnormal heart morphology ORPHA:2020
Parathyroid Carcinoma
Uterine leiomyoma, Testicular neoplasm, Weight loss ORPHA:143
Familial Pancreatic Carcinoma
Ovarian carcinoma, Weight loss ORPHA:1333
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Polycythemia Vera
Weight loss ORPHA:729
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Klatskin Tumor
Weight loss ORPHA:99978
Granulomatosis With Polyangiitis
Pericarditis, Prostatitis, Weight loss ORPHA:900
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Weight loss ORPHA:100078
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Igg4-Related Kidney Disease
Abnormal lung morphology, Interstitial pneumonitis, Abnormal aortic morphology, Arteritis, Sialad... ORPHA:449395
Reactive Arthritis
Pericarditis, Weight loss ORPHA:29207
Doors Syndrome
Sirenomelia, Ambiguous genitalia, Double outlet right ventricle, Spina bifida occulta, Dandy-Walk... ORPHA:79500
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Recurrent upper respiratory tract infections, Peripheral arterial stenosis, Abnorma... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Recurrent upper respiratory tract infections, Peripheral arterial stenosis, Abnorma... ORPHA:217093
Caroli Disease
Weight loss ORPHA:53035
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Multiple Endocrine Neoplasia Type 1
Weight loss, Impotence, Lethargy, Decreased male libido, Amenorrhea ORPHA:652
Nocardiosis
Pericarditis, Abnormal heart valve morphology, Endocarditis, Weight loss ORPHA:31204
Familial Thrombocytosis
Weight loss ORPHA:71493
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Dermatomyositis
Myocarditis, Pericarditis, Weight loss ORPHA:221
Kikuchi-Fujimoto Disease
Myocarditis, Ataxia, Weight loss ORPHA:50918
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal cerebrospinal fluid morphology, Abnormal reproductive ... ORPHA:797
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Anoperineal fistula, Weight loss OMIM:301074
Multiple Myeloma
Weight loss ORPHA:29073
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Secondary amenorrhea, Weight loss, Truncal obesity, Abdominal obesity, Pro... ORPHA:99889
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Pancreatoblastoma
Weight loss ORPHA:677
Tropical Pancreatitis
Weight loss ORPHA:103918
Ppoma
Weight loss ORPHA:97278
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Weight loss OMIM:181000
Malt Lymphoma
Weight loss ORPHA:52417
Somatostatinoma
Weight loss ORPHA:97283
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Glucagonoma
Weight loss ORPHA:97280
Chronic Graft Versus Host Disease
Weight loss, Abnormal vagina morphology, Phimosis ORPHA:99921
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Weight loss OMIM:619381
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxj1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxj1.

No publications found that use IMPC mice or data for Foxj1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Foxj1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Foxj1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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