Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxj1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... ORPHA:244
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Abdominal situs inversus 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
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, 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, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... 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
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy 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
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Infertility, Atrioventricular canal defect, Unbalanced atrioventricular canal def... OMIM:618300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophi... OMIM:615248
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, Hypertrophic c... OMIM:615382
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent inner dynein arms, Absent outer dynein arms, Infertility OMIM:613193
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Short stature, Reduced sperm motility, Abnormal central microtubular pair morphol... OMIM:612650
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Infertility OMIM:618063
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Heterotaxy, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal o... OMIM:613807
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis OMIM:612518
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Diabetic Embryopathy
Hydrocephalus, Micropenis, Tetralogy of Fallot, Ventricular septal defect, Abnormal morphology of... ORPHA:1926
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility, Absent outer dynein arms OMIM:612444
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia OMIM:615067
Ciliary Dyskinesia, Primary, 2
Infertility, Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Nasal poly... OMIM:606763
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis OMIM:617092
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis OMIM:615451
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight, Long penis ORPHA:1672
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Situs inversus totalis, Dextrocardia, Absent inner and outer... OMIM:615444
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, ... OMIM:615415
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Gliosis, Increased CSF lactate, Cerebellar... ORPHA:79243
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia, Situs in... OMIM:613808
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... ORPHA:1908
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Atrial Fibrillation, Familial, 10
Left ventricular hypertrophy, Right ventricular dilatation, Left atrial enlargement OMIM:614022
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Isomerism, Transposition of the g... OMIM:314390
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Atrial septal defect, Short stature, Ventricular septal defect, Situs inversus totalis, C... OMIM:249270
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... ORPHA:244
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Absent outer dynein arms, Nasal polyposis OMIM:616037
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Lissencephaly 4
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:614019
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elbow ... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left atrial enlar... OMIM:608751
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms, Nasal polyposis OMIM:614935
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Dynein arm defect of respiratory motile cilia OMIM:615505
Moynahan Syndrome
Cachexia, Short stature, Hypogonadism ORPHA:2574
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Short stature, Spina bifida occulta, Situs inversus totalis, Dextrocardia OMIM:613686
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis OMIM:615504
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613873
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Ventricular septal defect, Lateral... ORPHA:3078
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology ORPHA:2185
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis OMIM:619608
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:303350
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613838
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Tetralogy of Fallot ORPHA:250994
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Ventriculomegaly, Astrocytosis OMIM:611087
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatomegaly OMIM:619048
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Genitopalatocardiac Syndrome
Double outlet right ventricle, Gonadal dysgenesis, male, Hypospadias, Ventricular septal defect, ... OMIM:231060
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Male infertility, Absent outer dynein arms, ... OMIM:244400
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Growth delay ORPHA:85290
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, S... OMIM:267010
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Mitral valve prolapse, Azoospermia,... ORPHA:2183
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy OMIM:614654
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Increased CSF lactate, Cachexia, Gait ataxia, Weight loss OMIM:612075
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Aortic aneurysm, Cryptorchidism, Frontal encephalocele ORPHA:261102
Thoracoabdominal Syndrome
Hydrocephalus, Hypospadias, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition ... OMIM:313850
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormal lung lobation, Si... ORPHA:1666
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogo... ORPHA:141333
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Fetal Trimethadione Syndrome
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Ambiguous geni... ORPHA:1913
Slc35A2-Cdg
Precocious puberty, Short stature, Tetralogy of Fallot, Lateral ventricle dilatation, Intrauterin... ORPHA:356961
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Mitral valve prolapse, Situs inversus totalis OMIM:609008
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Failure to thrive, Hydrocephalus, Lethargy ORPHA:26
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Cryptorchidism, Bicornuate uterus, Holopr... OMIM:264480
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Kleeblattschaedel
Hydrocephalus OMIM:148800
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Abnormal ciliary motility, Ciliary dyskinesia, Abs... OMIM:610852
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Midshaft hypospadias, Short stature ORPHA:2863
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Bardet-Biedl Syndrome 17
Micropenis, Situs inversus totalis, Dextrocardia, Hypogonadism, Obesity OMIM:615994
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Left Isomerism, Double inlet right ventricle, Atrial septal defect... OMIM:619702
Meacham Syndrome
Blind vagina, Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Tet... OMIM:608978
Renpenning Syndrome
Severe short stature, Heterotaxy, Cachexia, Hypospadias, Decreased testicular size, Growth delay ORPHA:3242
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia, Ventriculomegaly, Short stature ORPHA:1933
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Christianson Syndrome
Cachexia, Truncal ataxia, Gait ataxia, Ventriculomegaly ORPHA:85278
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Ciliary dyskinesia, Im... OMIM:612649
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Intrauterine growth retardation ORPHA:284417
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus, Pyloric stenosis ORPHA:2978
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Growth delay, Short stature ORPHA:208447
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... OMIM:253800
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Cach Syndrome
Lateral ventricle dilatation, Growth delay, Intrauterine growth retardation, Gonadal dysgenesis ORPHA:135
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Umbilical hernia, Postnatal growth retardation, Cryptorc... OMIM:616145
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ataxia OMIM:613662
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventric... OMIM:608758
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture OMIM:616733
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis OMIM:608647
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation ORPHA:488635
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... ORPHA:3097
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy OMIM:613623
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Nasal polyposis, Immotile cilia OMIM:242680
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive cardiomyopathy, Left vent... ORPHA:85451
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Joubert Syndrome
Hydrocephalus, Ataxia, Situs inversus totalis, Gait disturbance, Encephalocele ORPHA:475
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Hypertrophi... OMIM:615418
Mcdonough Syndrome
Cachexia, Cryptorchidism, Short stature ORPHA:2471
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation, Short stature ORPHA:178469
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Temple Syndrome
Intrauterine growth retardation, Hydrocephalus, Small for gestational age, Short stature, Truncal... OMIM:616222
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agenesis of co... OMIM:225790
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Distal Monosomy 10Q
Atrial septal defect, Short stature, Spina bifida occulta, Lateral ventricle dilatation, Patent d... ORPHA:96148
Spinocerebellar Ataxia 48
Cachexia, Ataxia, Gait ataxia, Dysmetria OMIM:618093
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Peri... OMIM:617877
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Hypoplastic female external genitalia, Endocardial fib... ORPHA:99776
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia, Short stature ORPHA:1516
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Adams-Oliver Syndrome 5
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... OMIM:616028
Ellis Van Creveld Syndrome
Failure to thrive, Neonatal short-limb short stature, Atrial septal defect, Atrioventricular cana... ORPHA:289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Choreoathetosis OMIM:221950
Marden-Walker Syndrome
Failure to thrive, Hydrocephalus, Severe short stature, Abnormal penis morphology, Hypospadias, A... ORPHA:2461
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Cryptorchidism, Increased CSF lactate, Intrauterine growth retardation ORPHA:565624
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Pallister-Hall-Like Syndrome
Hydrocephalus, Glioma, Micropenis, Occipital encephalocele, Abnormal heart morphology OMIM:241800
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Pulmonary artery stenosis, Atrioventr... ORPHA:251071
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy OMIM:205400
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney OMIM:602088
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Short stature, Colpocephaly, Hypospadias, Dilated third ventricle, Rhi... ORPHA:397715
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Riboflavin Transporter Deficiency
Cachexia, Ataxia, Hypogonadism ORPHA:97229
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Hepatomegaly OMIM:613095
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, V... OMIM:218350
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hy... OMIM:613404
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly, Intrauterine growth ret... ORPHA:572798
Carpenter Syndrome 1
Precocious puberty, Atrial septal defect, External genital hypoplasia, Short stature, Pulmonic st... OMIM:201000
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Failure to thrive in infancy, C... ORPHA:858
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Increased CSF protein, Astrocytosis ORPHA:204
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatat... ORPHA:457279
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy OMIM:616801
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Abnormal cardiac septum morphology, Failure to thrive, Hypoplasia of ... ORPHA:2315
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
22Q11.2 Duplication Syndrome
Growth delay, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral st... ORPHA:1727
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Marden-Walker Syndrome
Micropenis, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Intrauterine... OMIM:248700
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly, Macroorchidism OMIM:300886
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida ORPHA:2437
Fried Syndrome
Hydrocephalus ORPHA:85335
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Meningocele ORPHA:1759
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Short stature, Abno... ORPHA:813
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Skeletal myopathy, Distal amyotrophy, Noncompaction cardiomyopathy,... ORPHA:3208
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Hypospadias, Ventriculomegaly, Umbilical hernia, Cryptorchidism, Agenesis of corpu... OMIM:175700
Cog5-Cdg
Short stature, Micropenis, Lateral ventricle dilatation, Cryptorchidism, Intrauterine growth reta... ORPHA:263487
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Postnatal growth retardati... ORPHA:300570
Facial Dysmorphism With Multiple Malformations
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arterie... OMIM:227255
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic bronchitis, Hepatocellular carcinoma, Gastric varix, Bronchiectasis OMIM:613490
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
19Q13.11 Microdeletion Syndrome
Failure to thrive, Bifid scrotum, Hypospadias, Cachexia, Ventricular septal defect, Growth delay,... ORPHA:217346
Craniotelencephalic Dysplasia
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Joubert Syndrome With Ocular Defect
Dextrocardia, Hydrocephalus, Agenesis of corpus callosum, Encephalocele ORPHA:220493
Central Precocious Puberty
Hydrocephalus, Premature thelarche, Increased body weight, Isosexual precocious puberty, Proporti... ORPHA:759
Cardiomyopathy, Familial Hypertrophic, 11
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial septal defect, Subaortic ventri... OMIM:612098
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... OMIM:220210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Ventriculomegaly, Decreased testicular size, Occipital en... OMIM:615287
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly ORPHA:488627
Temple Syndrome
Hydrocephalus, Precocious puberty, Postnatal growth retardation, Small for gestational age, Short... ORPHA:254516
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Mosaic Trisomy 1
Micropenis, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Lateral ve... ORPHA:1692
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Patent ductus arteriosus, Vascula... OMIM:220220
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... OMIM:208085
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... OMIM:615474
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:83473
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Short stature, Patent ductus arteriosus, ... ORPHA:93274
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Pagod Syndrome
Hypoplastic left heart, Short stature, Agonadism, Abnormal morphology of female internal genitali... ORPHA:991
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Choreoat... ORPHA:261197
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly OMIM:610333
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Increased CSF protein, W... ORPHA:298
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale OMIM:616789
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Hydrocephalus, Aortic valve stenosis OMIM:615599
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryp... ORPHA:544488
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism, Agenesis ... OMIM:618577
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Dilated third ventricle, Left s... ORPHA:464738
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Gait disturbance, Dilated cardiomyopathy, Ventriculomegaly, Intrauterine growth re... ORPHA:272
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Congenital Aortic Valve Stenosis
Aortic valve calcification, Aortic valve stenosis, Aortic valve atresia, Left ventricular hypertr... ORPHA:3093
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia ORPHA:380
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Gait ataxia, Ventriculomeg... ORPHA:248111
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction OMIM:163800
Inherited Creutzfeldt-Jakob Disease
Stroke-like episode, Increased CSF protein, Astrocytosis ORPHA:282166
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Ring Chromosome 10 Syndrome
Cachexia, Intrauterine growth retardation ORPHA:1438
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Cachexia, Gait disturbance, Choreoathetosis, Failure to thrive in infancy ORPHA:702
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short stature ORPHA:1389
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Choroid plexus cyst, Bifid uterus, Short umbilical cord, Hydrane... OMIM:256520
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Ventriculomegaly OMIM:602501
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia, Cardiomegaly, Lethargy ORPHA:42
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Whipple Disease
Hydrocephalus, Ataxia, Cachexia, Myocarditis, Erectile dysfunction, Pericarditis ORPHA:3452
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Pulmonary Blastoma
Weight loss ORPHA:64741
Mend Syndrome
Hydrocephalus, Aortic valve stenosis, Short stature, Cryptorchidism, Dandy-Walker malformation OMIM:300960
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tetralogy o... ORPHA:3426
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Primary Pulmonary Hypoplasia
Dextrocardia, Failure to thrive, Secundum atrial septal defect, Intrauterine growth retardation ORPHA:2257
Ververi-Brady Syndrome
Intrauterine growth retardation, Transposition of the great arteries, Short stature OMIM:617982
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature, Pulmonic stenosis, Cryptorchidism, Hypertrophic cardiomyopathy ORPHA:2701
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... ORPHA:98915
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:619167
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Meningocele, Encepha... OMIM:611134
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Growth delay, Atrial septal defect, Pulmonic stenosis, Tetralogy o... OMIM:179613
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy OMIM:178600
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Intrauterine growth retardation, Severe failure to thrive, Short stature ORPHA:371364
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Hydrocephalus, Atrial septal defect, Patent ductus art... ORPHA:2655
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Micropenis, Hypospadias, Patent ductus arteriosus, Umbilical hernia, Cryptorchidism ORPHA:171839
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... ORPHA:7
Prader-Willi Syndrome Due To Translocation
External genital hypoplasia, Short stature, Hypogonadotropic hypogonadism, Lateral ventricle dila... ORPHA:177907
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... ORPHA:3400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Ventricular septal defect, Pa... ORPHA:77298
Aredyld Syndrome
Cachexia, Intrauterine growth retardation, Short stature ORPHA:1133
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cryptorchid... OMIM:612938
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Hypospadias, Hydrocephalus, Atrial septal defect OMIM:249630
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Micropenis, Tetralogy of Fallot, Dextrocardia, Cryptorchidism, Agenesis of co... ORPHA:96092
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Micropenis, Atrioventricular canal defect, Coarctation of aorta, Dextrocardia, Cryptorchidism, Ag... OMIM:618929
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Tetrasomy 12P
Cachexia, Short stature ORPHA:884
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Disproportionate short-limb short stature, Hypospadias, Situs inversus ... ORPHA:1505
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hyposp... ORPHA:3376
Knobloch Syndrome
Patent ductus arteriosus, Dextrocardia, Hydrocephalus, Occipital encephalocele ORPHA:1571
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Short stature, Patent ductus arteriosus, Ventriculomegaly, Cryptorchidism OMIM:609757
Flynn-Aird Syndrome
Cachexia, Ataxia ORPHA:2047
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Infertility, Ataxia, Reduced sperm motility, Truncal ataxia, Difficulty walking... ORPHA:320391
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hypoplasia of penis, Short stature, Cachexia, Decreased testicular size, Hypogo... ORPHA:85293
Bresek Syndrome
Hydrocephalus, Neonatal death, Decreased testicular size, Growth delay, Cryptorchidism, Intrauter... ORPHA:85284
Trisomy 18
Atrial septal defect, Holoprosencephaly, Short stature, Cachexia, Anencephaly, Abnormal morpholog... ORPHA:3380
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Dilation of Virchow-Robin ... OMIM:619955
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Ventriculomegaly, Premature ovarian insufficiency OMIM:610965
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Myocarditis, Dilated cardiomyopathy, Left atrial enlargement, Abnor... ORPHA:563
Hydrocephalus With Associated Malformations
Hydrocephalus, Intrauterine growth retardation OMIM:236640
Rett Syndrome
Short stature, Gait apraxia, Cachexia, Truncal ataxia, Gait ataxia OMIM:312750
Idiopathic Pulmonary Arterial Hypertension
Right ventricular hypertrophy ORPHA:275766
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Optic Pathway Glioma
Growth delay, Hydrocephalus, Precocious puberty ORPHA:2086
Tuberculosis
Weight loss ORPHA:3389
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... ORPHA:2306
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Halperin-Birk Syndrome
Intrauterine growth retardation, Ventriculomegaly, Perimembranous ventricular septal defect, Semi... OMIM:618651
Poland Syndrome
Dextrocardia OMIM:173800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:109120
Meckel Syndrome
Hydrocephalus, Urethral atresia, Cryptorchidism, Male pseudohermaphroditism, Anencephaly, Situs i... ORPHA:564
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Immotile cilia OMIM:618801
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Short stature, Ventricular septal defect, Dextrocardia, Coron... OMIM:614294
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Abdominal situs inversus OMIM:618699
1Q44 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Short stature, Ventriculomegaly, Growth delay,... ORPHA:238769
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy OMIM:207950
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis OMIM:619698
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature OMIM:300558
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... ORPHA:2184
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Enlarged kidney, Situs i... OMIM:208540
X-Linked Creatine Transporter Deficiency
Athetosis, Cachexia, Ataxia, Short stature ORPHA:52503
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus, Cryptorchidism, Hypogonadism OMIM:601794
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cardiomegaly OMIM:269920
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Cleft palate, Abnormal lung lobation, Abnormal aortic morphology, Truncus ar... ORPHA:2516
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... OMIM:618780
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Fanconi Anemia, Complementation Group B
Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Coarctation of aorta, Ventricular sept... OMIM:300514
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Hydrocephalus, Ataxia, Short stature ORPHA:220295
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, Short stature OMIM:619995
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Cachexia ORPHA:93941
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation ORPHA:1914
Joubert Syndrome 14
Growth delay, Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Ovarian neoplasm, Testicular neoplasm ORPHA:83469
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Distal Trisomy 5Q
Short stature, Hypospadias, Ventricular septal defect, Dextrocardia, Cryptorchidism ORPHA:96097
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Hypoplasia of the uterus, Atrial septal defect, Micropenis, Short stature... OMIM:309801
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Hydrocephalus, Ventriculomegaly, Short stature OMIM:615630
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormal fallopian tube morphology, Cryptorchidism, ... ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Short stature, Colpocephaly, Ventriculomegaly, Intrauterine growth retardation OMIM:619833
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Short stature, Abnormality of... OMIM:614886
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Hydrocephalus, Impotence, Ovarian cyst, Oligospermia, Abnormality of the... ORPHA:91348
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Dilated fourth ventricle, Agenesis of corpus callosum, Ventriculomegaly, Occipital... ORPHA:370959
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Oligospermia, Primary amenor... ORPHA:52901
Wolman Disease
Cachexia, Growth delay ORPHA:75233
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hydrocephalus, Ventriculomegaly, Postnatal growth retardation, Intrauterine gr... ORPHA:2169
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Ring Chromosome 7 Syndrome
Hydrocele testis, Severe intrauterine growth retardation, Holoprosencephaly, Short stature, Hypos... ORPHA:1449
Aortic Aneurysm, Familial Thoracic 9
High palate, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Abnormal aortic morphology ORPHA:3405
Cardiac-Urogenital Syndrome
Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral cryptorchidism, Tetral... OMIM:618280
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Emanuel Syndrome
Failure to thrive, Hydrocephalus, Infertility, Atrial septal defect, Aortic valve stenosis, Micro... ORPHA:96170
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Atrial septal defect, Short stature, Ventricular septal defect, ... OMIM:609053
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Dural Sinus Malformation
Hydrocephalus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal ... ORPHA:97339
Isolated Congenital Hypoglossia/Aglos