Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dynein axonemal intermediate chain 1
Synonyms:
1110066F04Rik,  Dnaic1,  b2b1526Clo

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 Dnai1 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 Dnai1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dnai1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurr... OMIM:615482
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
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, 30
Situs inversus totalis, Bronchiectasis, Nasal congestion, Ciliary dyskinesia, Absent outer dynein... OMIM:616037
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... OMIM:613807
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Dextrocardia, Double outlet right ... OMIM:605376
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respir... OMIM:615505
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Dextrocardia, Chronic sinusitis, Abno... OMIM:614679
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis, Abnormal resp... OMIM:612518
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615500
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... OMIM:614874
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dy... OMIM:613193
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... OMIM:300991
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent out... OMIM:614017
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... OMIM:612444
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Productiv... OMIM:618699
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:614935
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Enlarged sylvian cistern OMIM:615752
Right Atrial Isomerism
Abdominal situs ambiguus, Right atrial isomerism, Single ventricle, Situs inversus totalis, Ventr... OMIM:208530
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal po... OMIM:613808
Hypoglossia With Situs Inversus
Situs inversus totalis, Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia, Mi... OMIM:612776
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:615444
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusit... OMIM:617092
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Dextrocardia, ... OMIM:618063
Ciliary Dyskinesia, Primary, 40
Cough, Situs inversus totalis, Rhinitis, Abnormal heart morphology OMIM:618300
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle,... ORPHA:244
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... OMIM:618254
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Respiratory distress, Ventricular septal defect, Mitral a... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Ectopia of the spleen, Ri... OMIM:613751
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Anosmia, Pneumonia, ... OMIM:244400
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... ORPHA:1666
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosi... OMIM:615382
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Porencephaly
Ventriculomegaly ORPHA:2940
Spondylocostal Dysostosis 4, Autosomal Recessive
Restrictive ventilatory defect, Situs inversus totalis, Unilateral vertebral artery hypoplasia, D... OMIM:613686
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Pulmonic... OMIM:615415
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Laryngeal hypoplasia, Tracheoma... OMIM:202650
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... OMIM:619123
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mandibular prognathia, Pulmonic stenosis, Aortic root aneurysm, Persisten... OMIM:609008
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect... OMIM:215520
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Sinusitis, Abnormal re... OMIM:242680
Familial Visceral Myopathy
Micrognathia, Prominent nasal bridge, Abdominal situs inversus, Anteverted nares ORPHA:2604
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Progressive Non-Infectious Anterior Vertebral Fusion
Micrognathia, Abdominal situs inversus, Wide nasal bridge, Depressed nasal bridge ORPHA:2062
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respiratory infections, Rhinit... OMIM:615504
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Depressed nasal tip, Patent ductus arteriosus, Wide nasal bridge, Dext... ORPHA:2863
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Prominent nose OMIM:221950
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Aplasia/Hypoplasia involving th... ORPHA:990
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... OMIM:608647
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Exertional dyspnea, Coarc... ORPHA:1330
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly OMIM:615763
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent respiratory infections, Abnormal... OMIM:612650
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3426
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly ORPHA:329228
Hallermann-Streiff Syndrome
Convex nasal ridge, Underdeveloped nasal alae, Abdominal situs inversus, Choanal atresia, Natal t... ORPHA:2108
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Abno... ORPHA:2257
Microcephaly 19, Primary, Autosomal Recessive
Ventriculomegaly OMIM:617800
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Dextrocardia, Situs inversus totalis OMIM:613095
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Respiratory distress, Microretrognathia, Wide nasal bridge, Patent foramen ... ORPHA:89844
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia, Nasal polyposis, Immotile c... OMIM:242670
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Dyspnea, Short nose, Respiratory distress, Respiratory failure, Depressed nas... ORPHA:1832
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Enlarged sylvian cistern ORPHA:1084
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly OMIM:618383
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose ORPHA:2015
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Spermatogenic Failure 38
Absent sperm flagella, Abnormal sperm head morphology, Oligospermia, Abnormal axonemal organizati... OMIM:618433
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Ventriculomegaly, Patent ductus arteriosus, Pulmonic stenosis, Double ... OMIM:618164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Respiratory insufficiency, Hepatomegaly, Dextrocardia, Missi... ORPHA:1759
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Situs inversus totalis, Respiratory insufficiency OMIM:602088
Familial Nasal Acilia
Bronchiectasis, Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Abn... ORPHA:922
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
17Q21.31 Microduplication Syndrome
Micrognathia, Anteverted nares, Short nose, Malar flattening ORPHA:217340
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly ORPHA:2732
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly ORPHA:1568
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Exertional dyspnea, Patent ductus ... ORPHA:229
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Hydrocephalus, Transposition... OMIM:314390
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Patent ductus arteriosus, Pulm... OMIM:179613
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly ORPHA:171703
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein, Gliosis ORPHA:204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Joubert Syndrome
Apnea, Situs inversus totalis, Anteverted nares, Episodic tachypnea, Abnormal pattern of respirat... ORPHA:475
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Ventriculomegaly OMIM:611087
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis OMIM:600333
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 39
Increased CSF lactate, Ventriculomegaly OMIM:618397
14Q11.2 Microdeletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, Micrognathia, Depressed nasal br... ORPHA:261120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum morphology, Pro... ORPHA:1200
Renpenning Syndrome
Mandibular prognathia, Heterotaxy, Broad columella, Malar flattening, Prominent nose ORPHA:3242
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Neonatal death, Bilateral lung agenesis, Coarctation ... OMIM:601612
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Vascular dilatation, Wide nasal bridge, Anteverted nares, Depressed nasal bridge OMIM:616430
Wolf-Hirschhorn Syndrome
Short hallux, Atrial septal defect, Abnormal heart valve morphology, Abdominal situs inversus, Wi... ORPHA:280
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly OMIM:618677
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Distal Trisomy 5Q
Carious teeth, Hypoplasia of the radius, Short nose, Ventricular septal defect, Aplasia/Hypoplasi... ORPHA:96097
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Retinitis Pigmentosa 6
Recurrent respiratory infections, Immotile cilia OMIM:312612
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Masa Syndrome
Ventriculomegaly ORPHA:2466
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Abnormal heart morphology, Disproportionate shortening of the tibia, Hepa... ORPHA:1505
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Depressed nasal... OMIM:155050
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Short foot OMIM:300577
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly OMIM:613402
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Overriding aorta, Micrognathia OMIM:616145
Lissencephaly 1
Ventriculomegaly OMIM:607432
Xylosidase Deficiency
Ventriculomegaly OMIM:278900
Bowen-Conradi Syndrome
Ventriculomegaly ORPHA:1270
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morp... ORPHA:83473
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Atrial septal defect, Situs inversus totalis, Ventricular septal defec... ORPHA:289
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly OMIM:616540
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly OMIM:613925
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl... ORPHA:991
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
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
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Rhiny
Anteverted nares, Short nose OMIM:180360
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly ORPHA:1261
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:3207
Intellectual Developmental Disorder, X-Linked 103
Ventriculomegaly OMIM:300982
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Concave nasal ridge, Peripheral arterial stenosis OMIM:124950
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Poland Syndrome
Dextrocardia, Unilateral oligodactyly, Short ribs OMIM:173800
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Laryngeal Abductor Paralysis
Congenital laryngeal stridor OMIM:308850
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Abnormal pattern of respiration... ORPHA:3287
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly OMIM:616486
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Colpocephaly ORPHA:2185
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Wide nasal bridge, Dextrocardia... ORPHA:96092
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly OMIM:618730
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly ORPHA:1980
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased CSF lactate, Ventricular septal defect OMIM:616277
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Cardiac-Urogenital Syndrome
Scimitar anomaly, Accessory spleen, Atrial septal defect, Ventricular septal defect, Dysplastic t... OMIM:618280
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Double outlet right ventricle,... OMIM:614886
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Vascular dilatation, Wide nasal bridge, Dilated fourth ventricle, Aorti... OMIM:220220
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ventriculomegaly OMIM:617862
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Exocrine pancreatic insufficiency, Underdeveloped nasal alae, Short no... ORPHA:2315
Non-Distal Trisomy 10Q
Convex nasal ridge, Micrognathia, Short nose, Depressed nasal bridge ORPHA:1695
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Pulmonary arterial hypertension, Tetra... OMIM:300887
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis ORPHA:225154
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Respiratory distress, Micromelia, Patent ductus arteriosus... ORPHA:166272
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Tetralogy of Fallot, Micrognathia, T... ORPHA:1913
Fetal Minoxidil Syndrome
Depressed nasal bridge, Ventricular septal defect ORPHA:1918
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognathia, Abnormality of the... ORPHA:1248
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly OMIM:619323
Acrocephalopolydactyly
Hepatosplenomegaly, Short nose, Limb undergrowth, Depressed nasal ridge ORPHA:221054
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Short toe, Malar flatt... OMIM:613458
Pallister-Hall-Like Syndrome
Short nose, Abnormal heart morphology, Micromelia, Short ribs, Pulmonary hypoplasia, Micrognathia... OMIM:241800
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly OMIM:617613
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Dextrocardia, Pulmonary hypoplasia, Spina bifida occulta, Myelomenin... ORPHA:2437
Mosaic Trisomy 9
Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Ventriculomegaly OMIM:617977
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Asthma, Aortic dissection, Micrognathia, Prominent nasa... OMIM:130090
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Choanal stenosis, Patent ductus arteriosus, Micrognathia, Malar flattening,... OMIM:241310
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
Combined Oxidative Phosphorylation Deficiency 15
Increased CSF lactate, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect OMIM:601355
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Recurrent respiratory infections ORPHA:1882
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Epilepsy, Early-Onset, Vitamin B6-Dependent
Ventriculomegaly OMIM:617290
Mental Retardation With Language Impairment And With Or Without Autistic Features
Retrognathia, Malar flattening, Short nose, Broad nasal tip OMIM:613670
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Isolated Cleft Lip
Supernumerary maxillary incisor, Situs inversus totalis ORPHA:199302
Catel-Manzke Syndrome
Ventriculomegaly, Atrial septal defect, Ventricular septal defect ORPHA:1388
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... OMIM:601927
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Short metacarpal, Short foot, Wide nasal bridge, Short toe, Micrognathia OMIM:614078
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein ORPHA:282166
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Transposition of the ... ORPHA:1727
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Pituitary Hormone Deficiency, Combined, 1
Short nose, Malar flattening, Prolonged neonatal jaundice, Jaundice, Anteverted nares, Depressed ... OMIM:613038
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Micromelia, Vascular dilatation, Short ribs, Cardiomegaly, Pulmonary arterial hyperte... OMIM:613320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Patent ductus arteriosus, Limb undergrowth, Short ribs, Neonatal respiratory distress... OMIM:618961
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventriculomegaly, Ventricular septal defect ORPHA:2515
Perlman Syndrome
Short nose, Wide nasal bridge, Hepatomegaly, Abnormal pancreas morphology, Retrognathia, Microgna... ORPHA:2849
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Comm... ORPHA:2184
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta, Depressed nasal bridge OMIM:618929
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Pancreatic cysts, Pancreatic fibrosis, Cystic liver dis... ORPHA:564
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Pancytopenia, Peripheral arterial stenosis, Leukopenia, Anemia OMIM:167850
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Coffin-Siris Syndrome 10
Anteverted nares, Laryngomalacia, Ventricular septal defect OMIM:618506
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Depressed nasal bridge, Dandy-Walker malformation, Ventricular septal defect OMIM:616901
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Narrow naris, Patent ductus arteriosus, Aplasia of ... OMIM:614976
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnormality of the pulm... ORPHA:1926
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Short palm, Ventricular septal defect ORPHA:79094
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Coronary artery atherosclerosis, Cerebral artery atherosclerosi... ORPHA:1192
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Hydrocephalus, Ventricular septal defect OMIM:603387
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly OMIM:608716
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Patent ductus arteriosus, Prom... OMIM:618974
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Short nose, Anemia ORPHA:2598
Fried Syndrome
Hydrocephalus ORPHA:85335
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Abnormal anatomic location of the heart, Dextr... ORPHA:2461
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Patent ductus arteriosus, Cardiomegaly, Patent ... OMIM:601005
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Short distal phalanx of toe, Respiratory failure requiring assisted venti... ORPHA:79345
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Depressed nasal bridge, Hydrocephalus, Ventricular septal defect OMIM:602501
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Renpenning Syndrome 1
Atrial septal defect, Situs inversus totalis, Bulbous nose, Ventricular septal defect, Mandibular... OMIM:309500
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly OMIM:225755
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Hydrocephalus, Trans... OMIM:313850
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly ORPHA:85179
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:1166
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose ORPHA:2370
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dilated fourth ventri... ORPHA:261183
Macdermot-Winter Syndrome
Ventriculomegaly OMIM:247990
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly ORPHA:2158
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Short columella, Patent ductus arteriosus, Laryngomalacia, Malar flattening, Microgna... ORPHA:171839
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... ORPHA:1110
Lissencephaly 3
Ventriculomegaly OMIM:611603
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Double outlet right vent... ORPHA:2209
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Exertional dyspnea, Patent ductus ... ORPHA:91387
Thanatophoric Dysplasia Type 2
Atrial septal defect, Holoprosencephaly, Ventriculomegaly, Patent ductus arteriosus, Aplasia/Hypo... ORPHA:93274
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Short nose OMIM:617061
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia, Anteverted nares, Dandy-Walker malformation OMIM:248700
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Ventriculomegaly, Dandy-Walker malformation ORPHA:262767
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Gliosis OMIM:612936
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, P... ORPHA:210122
Gabriele-De Vries Syndrome
Ventriculomegaly OMIM:617557
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Prolidase Deficiency
Recurrent pneumonia, Short nose, Concave nasal ridge, Thrombocytopenia, Prolonged neonatal jaundi... OMIM:170100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Short nose, Recurrent pneumonia ORPHA:1495
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Malar flattening, Shor... ORPHA:93328
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly OMIM:230600
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Short nasal bridge... ORPHA:2409
Achondrogenesis Type 1A
Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Micrognathia, Anteverted nares, Short pa... ORPHA:93299
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Short nose, Bronchiectasis, Pneumonia, Malar flattening, Reduced natural kille... OMIM:242860
Acromicric Dysplasia
Short nose, Bulbous nose, Small hand, Short metacarpal, Anteverted nares, Short palm ORPHA:969
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Ventricular septal defe... ORPHA:1458
Joubert Syndrome With Ocular Defect
Dextrocardia, Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:220493
Achondrogenesis
Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Anteverted nares, Micromelia ORPHA:932
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly OMIM:618228
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Micrognath... OMIM:613457
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Obstructive sleep apnea, Short nose, Short 5th metacarpal, Pulmonic stenosis, Perimembranous vent... OMIM:617877
Baker-Gordon Syndrome
Sleep apnea, Short nose, Prominent nasal tip OMIM:618218
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Achondrogenesis Type 1B
Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Micrognathia, Anteverted nares, Micromelia ORPHA:93298
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventriculomegaly, Abnormal aortic valve morpholo... ORPHA:261197
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Patent ductus arterios... OMIM:613870
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Thanatophoric Dysplasia
Atrial septal defect, Ventriculomegaly, Patent ductus arteriosus, Pulmonary hypoplasia, Hydroceph... ORPHA:2655
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose,... ORPHA:1529
Robinow Syndrome, Autosomal Recessive 2
Short nose, Mesomelia, Wide nasal bridge, Bicuspid aortic valve, Broad nasal tip, Micrognathia, A... OMIM:618529
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Ventriculomegaly, Aqueductal stenosis OMIM:600907
Fryns Syndrome
Abnormal aortic arch morphology, Ventriculomegaly, Abnormal aortic morphology, Wide nasal bridge,... ORPHA:2059
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Broad nasal ... OMIM:618846
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Azoospermia, Hydrocephalus ORPHA:2183
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormality of the pharynx, Ventricular septal defect ORPHA:3469
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Patent ductus arteriosus, Short nose ORPHA:2547
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Episodic tachypnea, Thick nasal alae, Apneic episodes in infancy, Retrognathia, Micro... ORPHA:163961
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Recurrent upper respiratory tract infections, Abnormal hea... ORPHA:391372
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Spondyloepiphyseal Dysplasia, Nishimura Type
Inspiratory stridor, Small hand, Recurrent respiratory infections, Short nose OMIM:618618
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Short nose, Hypertrophic cardiomyopathy OMIM:617183
Mirage Syndrome
Lymphopenia, Patent ductus arteriosus, Thrombocytopenia, Aspiration pneumonia, Anemia, Leukopenia... OMIM:617053
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
3C Syndrome
Atrial septal defect, Short nose, Hydrocephalus, Ventricular septal defect, Abnormal mitral valve... ORPHA:7
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Rhizomelia, Mandibular prognathia, Short humerus, Short metacarpal, Depressed nasal r... ORPHA:2831
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Micrognathia, Short nose, Respiratory distress OMIM:615042
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Ventriculomegaly, Pulmonic stenosis, Double outlet right ventricle, Pu... OMIM:301056
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Gliosis OMIM:614946
Ring Chromosome 7 Syndrome
Short 5th finger, Narrow naris, Situs inversus totalis, Short nose, Anteverted nares, Mandibular ... ORPHA:1449
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Abnormal heart morphology DECIPHER:52
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Laryngeal hypoplasia, Short palm, Abnormality of the larynx, Pa... OMIM:217980
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Hemimegalencephaly
Ventriculomegaly, Gliosis ORPHA:99802
Teebi Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Natal tooth, Wide nasal bridge, Smal... OMIM:145420
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Macrocephaly/Autism Syndrome
Short nose, Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge OMIM:605309
Craniofacial Dyssynostosis
Patent ductus arteriosus, Hydrocephalus, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1516
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Pierpont Syndrome
Short toe, Short nose, Broad nasal tip, Short finger, Short palm, Short foot, Malar flattening, W... OMIM:602342
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Atrial septal defect, Short nose, Ventricular septal defect, Coarctation of aorta,... OMIM:617602
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Skraban-Deardorff Syndrome
Ventriculomegaly OMIM:617616
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly OMIM:617090
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly OMIM:613151
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Gliosis, Abnormal astrocyte morphology ORPHA:168486
Fibrochondrogenesis 2
Short nose, Short ribs, Malar flattening, Micrognathia, Anteverted nares OMIM:614524
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... OMIM:301043
Distal Tetrasomy 15Q
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Hypoplastic aortic arc... ORPHA:314588
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Aplasia/Hypoplasia of the lungs, Micrognathia, Malar flattening, ... ORPHA:2145
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Mental Retardation, Autosomal Dominant 20
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Proteus Syndrome
Venous malformation, Mandibular hyperostosis, Splenomegaly, Lymphangioma, Facial hyperostosis, De... OMIM:176920
Neuronal Intranuclear Inclusion Disease
Increased CSF protein, Ventriculomegaly, CSF pleocytosis OMIM:603472
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Short finger, Pneumonia, Anteverted nar... OMIM:300209
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Respiratory insufficiency, Micrognathia, Anteverted nares ORPHA:1895
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Alveolar capillary dysplasia, Pulm... OMIM:265380
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, Anteverted nares, Dandy-Wa... OMIM:616920
Congenital Disorder Of Glycosylation, Type Il
Short nose, Pericardial effusion, Hepatomegaly, Abnormal cardiac septum morphology, Hepatosplenom... OMIM:608776
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, Ventriculomegaly, Coarctat... ORPHA:1120
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Dandy-Walker malformation ORPHA:217
Achondroplasia
Hydrocephalus OMIM:100800
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Short nose, Respiratory distress, Abnormal heart morphology, Aspiration p... ORPHA:314655
Chung-Jansen Syndrome
Micrognathia, Anteverted nares, Short nose OMIM:617991
Kohlschutter-Tonz Syndrome
Ventriculomegaly OMIM:226750
Noonan Syndrome 12
Ventriculomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... OMIM:192430
Robinow Syndrome, Autosomal Dominant 2
Short nose, Mesomelia, Short distal phalanx of finger, Dental malocclusion, Micrognathia, Antever... OMIM:616331
Joubert Syndrome 31
Ventriculomegaly OMIM:617761
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Ventricular septal defect OMIM:272440
Ataxia-Deafness-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:1188
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Knobloch Syndrome
Dextrocardia, Patent ductus arteriosus, Hydrocephalus, Depressed nasal bridge ORPHA:1571
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly OMIM:617669
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Short nose ORPHA:1389
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect OMIM:218350
Glutamine Deficiency, Congenital
Apnea, Short nose, Micromelia, Wide nasal bridge, Neonatal respiratory distress, Anteverted nares... OMIM:610015
Trisomy 5P
Ventriculomegaly ORPHA:1742
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly OMIM:616034
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Patent ductus arteriosus, Shor... OMIM:618454
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly ORPHA:2172
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly OMIM:618251
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... OMIM:208540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Increased CSF protein, Gliosis OMIM:203700
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ventriculomegaly OMIM:618273
Distal Trisomy 18Q
Carious teeth, Short nose, Anteverted nares, Choanal atresia, Micrognathia, Prominent nasal bridge ORPHA:1716
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Short nose, Pulmonic stenosis, Anteverted nares, Hypertrophic cardiomyopathy ORPHA:2701
Developmental And Epileptic Encephalopathy 70
Ventriculomegaly OMIM:618298
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Coarctation of aorta, Tra... ORPHA:1923
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Prominence of the premaxilla, Short nose, Broad nasal tip, Anteverted nares OMIM:137550
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Righ... OMIM:614261
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio... OMIM:608149
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Underdeveloped nasal alae, Micromelia, Patent ductus arteriosus, Recurrent ... ORPHA:2637
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Pu... ORPHA:1335