Gene Summary

Name:
dynein, axonemal, heavy chain 5
Synonyms:
Mdnah5,  b2b1154Clo,  b2b1134Clo,  b2b1537Clo,  b2b1565Clo,  Dnahc5,  b2b3491Clo

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Dnah5tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased blood urea nitrogen level Dnah5tm1b(KOMP)Wtsi HET Early adult 8.30×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

10 Images

Human diseases caused by Dnah5 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 Dnah5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dnah5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Abdominal situs ambiguus, Ventr... OMIM:208530
Azotemia, Familial
Azotemia OMIM:109160
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Dextrocardia, Double outlet right ... OMIM:605376
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections OMIM:215520
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurr... OMIM:615482
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615067
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Pulmonary insufficiency, Cilia... OMIM:614017
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... OMIM:618254
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... OMIM:616037
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... OMIM:300991
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... OMIM:612444
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respir... OMIM:615505
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Abnormal heart morphology OMIM:618300
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615500
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... OMIM:614679
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double... ORPHA:244
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Recurrent sinusitis, Situs inversus totalis, Chronic sinusitis OMIM:612518
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... OMIM:615382
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... OMIM:613807
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dy... OMIM:613193
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent respirat... OMIM:610852
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:614935
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Bronchiectasis OMIM:616481
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Dextrocardia, ... OMIM:618063
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Cholestasis, Hepatic fibrosis, Hepatomega... OMIM:615415
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal po... OMIM:613808
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:615444
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusit... OMIM:617092
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... ORPHA:1666
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior... ORPHA:185
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hypoplastic left heart OMIM:236110
Spermatogenic Failure 38
Absent sperm flagella, Abnormal sperm head morphology, Oligospermia, Abnormal axonemal organizati... OMIM:618433
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyr... ORPHA:171703
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Leukodystrophy, Hypomyelinating, 14
Dystonia, Growth delay, Cerebral atrophy, Respiratory insufficiency, Hearing impairment, Cerebell... OMIM:617899
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Pneumonia, Sinusitis... OMIM:244400
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Abno... ORPHA:2257
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Decreased nasal nitric oxide, Bronchiectasis, Atelectasis OMIM:615872
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Cerebral atrophy, Diffuse s... OMIM:613925
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Respiratory insufficiency, Absence of ... OMIM:602088
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Recurrent urinary tract infections, Dextrocardia, Polycyst... OMIM:613095
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Aglossia, Laryngeal hypoplasia,... OMIM:202650
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pu... OMIM:268500
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, P... ORPHA:210122
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Familial Nasal Acilia
Bronchiectasis, Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Abn... ORPHA:922
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Restrictive ventilatory defect, Situs inver... OMIM:613686
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Hyperactivity, M... OMIM:613402
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... OMIM:619123
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Short statur... OMIM:616192
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Depressed nasal tip, Pa... ORPHA:2863
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal resp... OMIM:612649
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Cerebella... OMIM:617862
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Wide... ORPHA:2184
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Nasal polyposis, Abnormal respiratory motile cilium morphology, Sinusitis OMIM:242680
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic... ORPHA:1727
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Persistent left superior vena ca... OMIM:609008
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Respiratory insufficiency, Renal... OMIM:228940
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Micrognathia, Prominent nose OMIM:221950
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Hydrocephalus,... OMIM:314390
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... ORPHA:1913
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... OMIM:618021
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent respiratory ... OMIM:612650
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Pulmonary fibrosis, Secundum atrial... OMIM:611926
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Megalencephaly, Autosomal Dominant
Macrocephaly, Megalencephaly, Hydrocephalus OMIM:155350
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Wide nasal b... ORPHA:1908
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic s... OMIM:618699
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Respiratory distress, Hypoplasia of the corpus callosum, Mandibular prognathia... OMIM:618006
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnormality of the panc... ORPHA:1926
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus OMIM:615938
Seckel Syndrome 9
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia,... OMIM:616777
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebral white... OMIM:618730
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Pierre Robin Syndrome
Cor pulmonale, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palat... OMIM:261800
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Intestinal malro... ORPHA:3426
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal... OMIM:612946
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... OMIM:208540
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Bardet-Biedl Syndrome 16
Renal insufficiency, Respiratory distress, Renal dysplasia, Renal cyst, Renal agenesis, Abnormali... OMIM:615993
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Recurren... OMIM:616726
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Microglossia, Hypoplasia of pen... ORPHA:990
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Vesi... OMIM:614261
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Diamond-Blackfan Anemia 7
Esophagitis, Ventricular septal defect, Secundum atrial septal defect, Choanal atresia, Neutropen... OMIM:612562
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Macrocephaly, ... OMIM:618709
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly, Intestinal malrotation... OMIM:156810
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Increased muscle lipid content, Microretrognathia, Congenital mus... ORPHA:324604
Pulmonary Hypertension, Primary, 1
Dyspnea, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Increased pul... OMIM:178600
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation OMIM:614023
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Ataxia, Respiratory insufficiency, Wide nasal bridge, Cerebellar atrophy... OMIM:610127
Developmental And Epileptic Encephalopathy 76
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Periv... OMIM:618468
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Ventriculomegaly, Patent ductus arteriosus, Pulmonic stenosis, Neonata... OMIM:618164
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve... ORPHA:99776
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Arteriosclerosis, Atherosclerosis, Vasculitis, Total... ORPHA:494424
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... OMIM:615937
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus, Ataxia OMIM:203450
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment OMIM:117210
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Spastic Paraplegia 32, Autosomal Recessive
Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic gait, Cerebellar... OMIM:611252
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Cat Eye Syndrome
Abnormal heart morphology, Micrognathia, Intestinal malrotation, Absent radius, Anal atresia, Cle... OMIM:115470
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Sinusitis, Immotile cilia, Chronic rh... OMIM:242670
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, High-frequency hearing impairment, Atelectasis, Chronic sinusitis, Otitis m... OMIM:300455
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent sinusitis, Neonatal resp... OMIM:617091
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Hearing impairment, Cerebellar atrophy, Waddling gait, Short stature, Microcephaly OMIM:619090
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Respiratory... ORPHA:1759
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis OMIM:618801
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Alveolar c... OMIM:265380
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Uni... OMIM:618845
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
White Forelock With Malformations
Bronchomalacia, Prominent veins on trunk, Atrial septal defect OMIM:277740
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defect, Dysplastic t... OMIM:618280
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Microcephaly, Cerebellar atrophy, Sensorineural hearing impairment, Brain atrophy OMIM:618741
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Respiratory failure, ... OMIM:253300
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:265450
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Central apnea, Cerebellar atrop... ORPHA:320385
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium OMIM:619143
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... OMIM:611726
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Microcephaly OMIM:614322
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Dyspnea, Respiratory distress, Short nose, Posteriorly rotated ears, Respirat... ORPHA:1832
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary... OMIM:616866
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Short nose, Macrotia, Growth delay, Cerebellar atrophy, Short stature, Progres... ORPHA:438178
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Secundum atrial septal defect, Anemia OMIM:223350
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Abnormal pons morphology, Cerebellar corti... ORPHA:171622
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Bulbous nose, Patent foramen ovale, Transposition of the great arteries, Depressed ... OMIM:616789
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Obstructive sleep apnea, Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect,... OMIM:617877
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalaci... OMIM:615889
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly OMIM:618276
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Gastroesophageal reflux, Patent ductus arteriosus, Right ventricular hypertrophy, Pulmonary arter... OMIM:613623
Aminoacylase 1 Deficiency
Cerebral atrophy, Wide nasal bridge, Cerebellar atrophy, Sensorineural hearing impairment, Hypera... OMIM:609924
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Respiratory insuffici... OMIM:610333
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Patent ductus arteriosus, Pulm... OMIM:179613
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, High, narrow palate, Antev... OMIM:616920
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Microphallus, Abnormal heart morphology, Trismus, Abnormal tracheobronchial morphology, Micrognat... OMIM:218450
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal paranasal sinus morphology, Abnormal periventricular white matter morphology, ... ORPHA:306741
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Cerebral calcification, Hydrocephalus, Ataxia ORPHA:99966
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Fragile X Syndrome
Mandibular prognathia, Chronic otitis media, Cerebral cortical atrophy, Protruding ear, Sinusitis... ORPHA:908
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly OMIM:608278
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Nescav Syndrome
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Microcephaly OMIM:614255
Intellectual Developmental Disorder, Autosomal Recessive 72
Prominent nose, Secundum atrial septal defect, Broad nasal tip OMIM:618665
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Respiratory insufficiency, Pulmonic ... ORPHA:1461
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Hydroceph... ORPHA:1600
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Hypoplastic left heart OMIM:617661
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Multicystic kidn... ORPHA:991
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... ORPHA:2255
Febrile Infection-Related Epilepsy Syndrome
Cough, Lethargy, Sinusitis ORPHA:163703
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellar vermis, Macr... OMIM:300864
Keutel Syndrome
Short hallux, Recurrent bronchitis, Ventricular septal defect, Emphysema, Peripheral pulmonary ar... OMIM:245150
Pancreatic And Cerebellar Agenesis
Apnea, Secundum atrial septal defect, Death in infancy, Pancreatic hypoplasia, Anemia OMIM:609069
Monosomy 13Q34
Hepatic steatosis, Epistaxis, Pulmonic stenosis, Broad nasal tip, Prominent nasal bridge, Common ... ORPHA:96168
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Mild hearing impairment, Cerebral cortical atrophy, Hearin... OMIM:611390
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Spinocerebellar Ataxia Type 31
Hearing impairment, Gait ataxia, Cerebellar atrophy ORPHA:217012
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Jaw swelling, Ventriculomegaly, Gait ataxia, Cerebellar atrophy OMIM:619323
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glossoptosis, Overri... OMIM:616145
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Gait disturbance, Macrocephaly, Normal pressure hydrocephalus OMIM:611808
Dystonia 23
Axial dystonia, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Torticollis, Cerebel... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Pulmonary arterial hypertension, ... ORPHA:99105
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, C... ORPHA:168486
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia, Wide nasal bridge OMIM:618302
Pontocerebellar Hypoplasia, Type 6
Apnea, Increased CSF lactate, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar atrophy, Atroph... OMIM:611523
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Abnormal renal corticomedullary differentiation, Pulmo... OMIM:616733
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Anomalous pulmonary venous return, Respiratory insufficiency, Abnormalit... ORPHA:2311
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis OMIM:312863
14Q11.2 Microdeletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, High palate, Micrognathia, Depre... ORPHA:261120
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Dyspnea, Left ventricular hypertrophy, Cardiomyopathy OMIM:613873
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo... OMIM:612692
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Cerebellar hypoplasia, Cerebellar a... ORPHA:488635
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Microcep... OMIM:618973
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Hepatomegaly, Jaundice, Glossoptosis, Elevated circu... OMIM:614876
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Macrocephaly, Microcephaly, Agenesis of corpus ca... OMIM:303350
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Ventriculomegaly, Left ventricular hyper... OMIM:618619
Desmosterolosis
Anomalous pulmonary venous return, Short nose, Micromelia, Abnormality of the nose, Patent ductus... ORPHA:35107
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220200
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Respiratory insufficiency, Pelvic kidney, Congenital ... OMIM:601186
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... OMIM:600348
Cleft Lip With Or Without Cleft Palate
Hearing impairment, Recurrent otitis media, Chronic sinusitis ORPHA:1991
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... OMIM:614886
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum morphology, Pro... ORPHA:1200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Unsteady gait, Spastic gait, Scissor gait ORPHA:101010
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Rhizomelia, Camptodactyly, High palate, Wide nasal bridge, Cleft palate, Sma... OMIM:611209
8P23.1 Duplication Syndrome
Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Wide nose ORPHA:251076
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Renal tubular acidosis, Pulmonic stenosis, Ren... OMIM:610205
Methylmalonic Acidemia With Homocystinuria
Skin rash, Lethargy, Gait disturbance, Microcephaly, Hydrocephalus ORPHA:26
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ventriculomegaly, Abnormal cerebral white matter morphology, Ataxia, Brady... ORPHA:248111
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, Increased urine succi... OMIM:619048
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... ORPHA:2703
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Respiratory insuffic... ORPHA:1166
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose, Cleft palate ORPHA:2015
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... OMIM:192430
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic ar... ORPHA:163979
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Micrognathia... OMIM:208085
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Difficulty walking, Progressive gait ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, C... ORPHA:284332
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Left ventricular hypertrophy OMIM:616974
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Fried Syndrome
Macrotia, Gait disturbance, Hearing impairment, Abnormal cerebellum morphology, Cerebral calcific... ORPHA:85335
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Hydroc... OMIM:313850
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Abnormal respiratory system physiology, Biventricular hypertroph... ORPHA:101028
17Q21.31 Microduplication Syndrome
Short nose, Malar flattening, High palate, Micrognathia, Anteverted nares ORPHA:217340
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Respiratory distress, Increased CSF lactate, Neuronal loss in basal gangli... OMIM:604377
Thomas Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Wheezing, Anomalous origin of left pulmo... ORPHA:141127
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Absent pubertal growth spurt, Neurodegeneration, Hearing impairment, Cerebellar atro... ORPHA:438134
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, High palate, Centrally nucleated skeletal musc... ORPHA:169186
Complete Atrioventricular Septal Defect
Wheezing, Tachypnea, Elevated pulmonary artery pressure, Complete atrioventricular canal defect, ... ORPHA:1329
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Multicystic kidney dysplasia ORPHA:2111
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge OMIM:270460
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Abnormal cardiac septum morphology, Renal cyst OMIM:615583
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect, Anemia OMIM:617408
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Short stature, Simplified gyral pattern, Intrauterine growt... OMIM:616171
Joubert Syndrome
Apnea, Situs inversus totalis, Anteverted nares, Episodic tachypnea, Aganglionic megacolon, Abnor... ORPHA:475
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Limb dysmetria, Diffuse cerebellar atrophy, Gait disturbance,... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Ataxia OMIM:600143
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
B4Galt1-Cdg
Macrocephaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Micrognathia... ORPHA:718
Renpenning Syndrome
Mandibular prognathia, High, narrow palate, Cleft palate, Anal atresia, Skeletal muscle atrophy, ... ORPHA:3242
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Peho-Like Syndrome
Pachygyria, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cere... OMIM:617507
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Mandibular prognathia, Left ventricu... OMIM:619040
Thakker-Donnai Syndrome
Communicating hydrocephalus, Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal ... ORPHA:1780
Desmosterolosis
Arthrogryposis multiplex congenita, Short nose, Micrognathia, Rhizomelia, Patent ductus arteriosu... OMIM:602398
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Hypoplastic left heart, Ventricular sept... OMIM:142900
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Bifid uvula, Secundum atrial septal defect, Ventriculomegaly, Hypertrophic cardiomyopathy OMIM:619121
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophi... OMIM:615248
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Difficulty walking, Cerebellar cyst, Ventriculomegaly, Abnormal cerebral white matter... ORPHA:370980
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... OMIM:300712
Spinocerebellar Ataxia Type 38
Difficulty walking, Cerebellar atrophy, Gait ataxia ORPHA:423296
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Cerebellar atrophy, Ataxia OMIM:616494
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia OMIM:614294
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Spinocerebellar Ataxia 37
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615945
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Ventriculomegaly, Cerebral atrophy, Ataxia, Cerebellar atrophy, Micr... OMIM:617804
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arteriosus, Pulmonic ... OMIM:201000
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Achondroplasia
Conductive hearing impairment, Rhizomelia, Recurrent otitis media, Megalencephaly, Upper airway o... OMIM:100800
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Cerebellar at... OMIM:224050
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, High palate, Transposition of the great arteries, Promi... OMIM:617982
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent respiratory infections, Chronic sinusitis OMIM:613502
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Ventriculomegaly, Posteriorly rotated ears, Small cerebral cortex, A... ORPHA:2185
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Immunodeficiency 32B
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Anteverted nares, Hydrocephalus OMIM:300884
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Secundum atrial septal defect, Pulmonic stenosis, Bifid uvula, Depresse... OMIM:615802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... OMIM:613156
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Coarctation of aorta, Persistent left superior vena cava, Celia... OMIM:136140
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Myopathy, Cardiomyo... OMIM:617713
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency, Brain atrophy, Cerebellar atrophy, ... OMIM:618226
Pallister-Hall-Like Syndrome
Short nose, Abnormal heart morphology, Micromelia, Short ribs, Pulmonary hypoplasia, Microglossia... OMIM:241800
Meckel Syndrome, Type 1
Accessory spleen, Coarctation of aorta, Abnormality of the larynx, Malformation of the hepatic du... OMIM:249000
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Truncal ataxia, Aplasia of the inferior half ... OMIM:610185
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Brain atrophy, Hydranencephaly, Macrocephaly, Hydrocephalus,... OMIM:617967
Cardiomyopathy, Familial Hypertrophic, 8
Exertional dyspnea, Restrictive cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Le... OMIM:608751
Idiopathic Pulmonary Arterial Hypertension
Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Right ventr... ORPHA:275766
Pettigrew Syndrome
High-frequency hearing impairment, Gait ataxia, Ventriculomegaly, Mandibular prognathia, Abnormal... OMIM:304340
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Synaptic Congenital Myasthenic Syndromes