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Gene: Dnai1 MGI:1916172

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Ciliary dyskin... OMIM:244400
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Abnormal inferior vena cava morphology, Abnormal heart morphology, P... ORPHA:244

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Situs inversus totalis, Atrioventricular canal def... OMIM:618300
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Cardi... OMIM:620642
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615451
Heterotaxy, Visceral, 2, Autosomal
Abdominal situs inversus, Situs inversus totalis, Transposition of the great arteries, Atrioventr... OMIM:605376
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Chronic sinusitis, Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Abnormal axonemal organization of respiratory motile cilia,... OMIM:611884
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent outer dynein arms, Recurrent bronchitis, Ciliary dyskinesia, Recur... OMIM:613193
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:608644
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, ... OMIM:615482
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614874
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615504
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Absent outer dynein arms, Respiratory insufficiency due to defective cili... OMIM:616037
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615505
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Immotile cilia... OMIM:615481
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Dynein arm defect of respiratory motile... OMIM:614679
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Situs inversus totalis, Recurrent sinusitis, Abnormal respiratory motile cili... OMIM:612518
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Abnormal axonemal organization of respiratory motile cilia, A... OMIM:613807
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615500
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614935
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Ciliary dyskinesia, Abnormal ciliary motility, Chronic rhinitis, Bronchie... OMIM:614017
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615444
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia, Imm... OMIM:616481
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Atelectasis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory in... OMIM:615872
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Nasal congestion, Recurrent sinusitis, Bronchiectasis, Recurrent respirat... OMIM:300991
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Chronic rhinitis, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, A... OMIM:617092
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Nasal polyposis, Sinusitis, Immotile ci... OMIM:606763
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre... OMIM:618699
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Rhinitis, Immotile cilia, Bronchiectasis, Chronic sinusitis OMIM:618063
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Pneumonia, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Bro... OMIM:612444
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:608647
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Bronchiectasis,... OMIM:620197
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Ciliary dyskinesia, Abnormal central microtubular pair morphology of resp... OMIM:612650
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Ciliary dyski... OMIM:613808
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia ORPHA:66630
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Patent ductus arteriosus, Double inlet lef... OMIM:270100
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Absent outer dynein arms, Respiratory insufficiency due to defective cili... OMIM:615067
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Chronic rhinitis, Bronchiectasis OMIM:617577
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hypoglossia With Situs Inversus
Situs inversus totalis, Micrognathia, Polysplenia, Asplenia OMIM:612776
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Ciliary dyskin... OMIM:244400
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Abnormal inferior vena cava morphology, Abnormal heart morphology, P... ORPHA:244
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Heterotaxy OMIM:618781
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Porencephaly
Ventriculomegaly ORPHA:2940
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism, ... OMIM:306955
Mirror Movements 3
Situs inversus totalis OMIM:616059
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Nephronophthisis 16
Situs inversus totalis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:615382
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Micrognathia, Ventricular septal defe... OMIM:619123
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Situs inversus totalis, Oligozoospermia, Recurrent sinusitis, Bronchiectasi... OMIM:620438
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Ectopia of the ... OMIM:613751
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinu... OMIM:610852
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality ... ORPHA:1666
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Mandibular prognathia, Pulmonic stenosis, Mitral va... OMIM:609008
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Hy... OMIM:615415
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Recurrent sinusitis, Abnormal central microtubular pair morphology of respira... OMIM:612649
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morpho... OMIM:215520
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial se... OMIM:249270
Familial Visceral Myopathy
Anteverted nares, Micrognathia, Prominent nasal bridge, Abdominal situs inversus ORPHA:2604
Colonic Atresia
Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Pulmonary artery ... ORPHA:1908
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte... ORPHA:185
Progressive Non-Infectious Anterior Vertebral Fusion
Micrognathia, Depressed nasal bridge, Wide nasal bridge, Abdominal situs inversus ORPHA:2062
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Microcephaly 19, Primary, Autosomal Recessive
Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation OMIM:617800
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:617912
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Polys... OMIM:619608
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, T... ORPHA:1330
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... ORPHA:3097
Agnathia-Otocephaly Complex
Situs inversus totalis, Wide nose, Mandibular aplasia, Micrognathia, Secundum atrial septal defec... OMIM:202650
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Hydr... OMIM:314390
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, Depressed nasal tip, Micrognathia, Patent ductus arterio... ORPHA:2863
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Isomerism, Patent ductus arteriosus, Dextrocardia, Ventricular septal defec... OMIM:619657
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Absent central microtubular pair morphology of res... OMIM:617091
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly ORPHA:329228
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Situs inversus totalis, Nasal congestion OMIM:615434
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Ciliary dyskines... OMIM:616726
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Aplasia of posterior communicating ar... OMIM:613686
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:619436
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Abnormal aortic arch morpholog... ORPHA:860
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Hallermann-Streiff Syndrome
Supernumerary tooth, Underdeveloped nasal alae, Short ribs, Choanal atresia, Micrognathia, Natal ... ORPHA:2108
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Absent nares, Mandibular aplasia, Aplasia/Hypoplasia involving the nose ORPHA:990
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Patent foramen ovale, Hypoplastic spleen, Microretrognathia, Atrial septal defect, Wid... ORPHA:89844
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, C... OMIM:208540
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Meckel Syndrome, Type 7
Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat... OMIM:267010
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Bilateral lung agenesis, Hy... OMIM:601186
Meacham Syndrome
Congenital alveolar dysplasia, Bicuspid aortic valve, Stillbirth, Transposition of the great arte... OMIM:608978
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta... ORPHA:3426
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Enlarged sylvian cistern ORPHA:1084
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly OMIM:615763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly ORPHA:2732
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Chronic bronchitis, Absent inner dynein arms, Coiled sperm flagella OMIM:620356
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi... ORPHA:922
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Immotile cilia, Chronic rhinitis OMIM:618801
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Taper... OMIM:618433
Spastic Paraplegia 88, Autosomal Dominant
Ventriculomegaly OMIM:620106
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Micrognathia, Anteverted nares ORPHA:2015
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Hyposmia, Anosmia, Short fourth metatarsal OMIM:615994
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Ventriculomegaly, Astrocytosis OMIM:611087
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein concentration, Gliosis ORPHA:204
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Malar flattening, Short nose ORPHA:217340
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly ORPHA:1568
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hepatic cysts OMIM:613095
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly ORPHA:171703
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of ... OMIM:220210
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return OMIM:106700
Renpenning Syndrome
Heterotaxy, Mandibular prognathia, Broad columella, Malar flattening, Prominent nose ORPHA:3242
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Atrial septal defect, Abnormality of the gallbladder, Short hallux, Abn... ORPHA:280
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
14Q11.2 Microdeletion Syndrome
Short nose, Micrognathia, Patent ductus arteriosus, Ventricular septal defect, Depressed nasal br... ORPHA:261120
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly OMIM:618677
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Missing ribs ORPHA:1759
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the 1st metacarpal, Pulmonic stenosis, Upper limb pho... OMIM:142900
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Macrodo... OMIM:618067
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Primary Pulmonary Hypoplasia
Pneumothorax, Patellar hypoplasia, Dextrocardia, Micrognathia, Secundum atrial septal defect, Pul... ORPHA:2257
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... ORPHA:1200
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Anteverted nares, Mandibular aplasia, Depressed nasal ridge, Micrognathia ORPHA:1832
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Retinitis Pigmentosa 6
Recurrent respiratory infections, Immotile cilia OMIM:312612
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly OMIM:618383
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Concave nasal ridge, Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly OMIM:613402
Masa Syndrome
Ventriculomegaly ORPHA:2466
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Dextrocardia, Carious teeth, Microg... ORPHA:96097
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Lissencephaly 1
Ventriculomegaly OMIM:607432
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, Thrombocytopenia,... OMIM:185070
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Recurrent respiratory infections, Patent foramen ovale, Pulmonary artery ... OMIM:618316
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm,... OMIM:132900
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly ORPHA:1261
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Maxillonasal Dysplasia, Binder Type
Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co... OMIM:155050
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Short nose, Short foot, Small hand OMIM:300577
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Bowen-Conradi Syndrome
Ventriculomegaly ORPHA:1270
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Prominent na... ORPHA:401935
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Coarctation of aorta, Holoprosence... OMIM:264480
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal... OMIM:601612
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic morphology, Pulmonary artery ... ORPHA:991
Ellis Van Creveld Syndrome
Acute leukemia, Situs inversus totalis, Atrioventricular canal defect, Emphysema, Dextrocardia, D... ORPHA:289
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:3207
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections OMIM:253300
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly OMIM:618730
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Hy... ORPHA:2306
Rhiny
Short nose, Anteverted nares OMIM:180360
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Poland Syndrome
Unilateral oligodactyly, Short ribs, Dextrocardia OMIM:173800
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Depressed nasal ridge, Hypoplasia... ORPHA:1248
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Anemia, Dextrocardia, Delayed eruption of teeth, Exocrin... ORPHA:2315
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly OMIM:619323
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly OMIM:613925
Weiss-Kruszka Syndrome
Short nose, Prominent nasal tip, Abnormal heart morphology ORPHA:502430
Non-Distal Duplication 10Q
Convex nasal ridge, Short nose, Micrognathia, Depressed nasal bridge ORPHA:1695
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly OMIM:616486
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Fetal Trimethadione Syndrome
Short nose, Transposition of the great arteries, Micrognathia, Tetralogy of Fallot, Atrial septal... ORPHA:1913
Cardiac-Urogenital Syndrome
Atrial septal defect, Mesocardia, Patent ductus arteriosus, Dextrocardia, Accessory spleen, Inter... OMIM:618280
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Acrocephalopolydactyly
Short nose, Limb undergrowth, Hepatosplenomegaly, Depressed nasal ridge ORPHA:221054
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip, Malar flattening OMIM:613670
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Dextrocardia, Anteverted nares, Micrognathia, Abnormal heart morphology, Tetralogy ... ORPHA:96092
Leukoencephalopathy With Vanishing White Matter 4
Ventriculomegaly OMIM:620314
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly ORPHA:1980
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Global Developmental Delay With Or Without Impaired Intellectual Development
Pulmonary sequestration, Lateral ventricle dilatation, Patent ductus arteriosus, Atrial septal de... OMIM:618330
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal liver lobulation, Dextrocardia, Abnormal heart valve morphology,... ORPHA:99776
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Aortic aneurysm, Patent foramen ovale, Abnormal heart morphology, Persiste... ORPHA:477817
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Pulmonary hypo... ORPHA:2437
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Ventriculomegaly, Increased CSF protein concentration OMIM:611722
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Skraban-Deardorff Syndrome
Ventriculomegaly, Right aortic arch, Ventricular septal defect OMIM:617616
Isolated Cleft Lip
Situs inversus totalis, Supernumerary maxillary incisor ORPHA:199302
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein concentration ORPHA:282166
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Recurrent respiratory infections ORPHA:1882
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly OMIM:617613
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Patent ductus arteriosus, Atri... OMIM:614846
Grange Syndrome
Short palm, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Fried Syndrome
Hydrocephalus ORPHA:85335
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Vascular ring, Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:603387
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Coronary artery atherosclerosis, Abnormal mitral valve morphology, Arterial stenosis, Cer... ORPHA:1192
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Ventricular hypertrophy, Choanal atresia, Pulmonic stenosis, Coarctation of aorta, Ab... ORPHA:284169
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Catel-Manzke Syndrome
Ventriculomegaly, Atrial septal defect, Ventricular septal defect ORPHA:1388
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Meckel Syndrome
Situs inversus totalis, Accessory spleen, Depressed nasal ridge, Asplenia, Micrognathia, Congenit... ORPHA:564
Perlman Syndrome
Retrognathia, Short nose, Hepatomegaly, Abnormal pancreas morphology, Anteverted nares, Micrognat... ORPHA:2849
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta, Atrioventricular canal defect, Dextrocardia, Depressed nasal bridge OMIM:618929
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Coarctation of aorta, Ventri... ORPHA:2876
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Teebi Hypertelorism Syndrome 1
Short nose, Aortic root aneurysm, Anteverted nares, Micrognathia, Natal tooth, Pulmonary hypoplas... OMIM:145420
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Renpenning Syndrome 1
Situs inversus totalis, Low hanging columella, Mandibular prognathia, Micrognathia, Tetralogy of ... OMIM:309500
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Abnormal aortic morphology, Tetralogy of Fall... ORPHA:1926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Short nose, B lymphocytopenia, Anteverted nares, Recurrent upper respiratory tract ... OMIM:614069
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Odontochondrodysplasia
Retrognathia, Short nose, Delayed eruption of teeth, Micromelia, Short palm, Dentinogenesis imper... ORPHA:166272
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Ventricular septal defect, Short nose OMIM:618506
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly OMIM:300209
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Pulmonic stenosis, Peripheral arterial stenosis OMIM:185500
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Neonatal death OMIM:615524
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Patent ductus arteriosus OMIM:614886
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hydrocephalus, Ven... ORPHA:2461
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia, Anemia ORPHA:2598
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Atrial Septal Defect 4
Atrial septal defect, Coarctation of aorta, Patent foramen ovale OMIM:611363
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly OMIM:616570
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Micrognathia, Short distal phalanx of ... OMIM:619356
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology ORPHA:2370
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia, Recurrent pneumonia ORPHA:1495
Ring Chromosome 7 Syndrome
Situs inversus totalis, Short nose, Anteverted nares, Mandibular prognathia, Prominent nasal brid... ORPHA:1449
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly OMIM:616540
Marden-Walker Syndrome
Anteverted nares, Micrognathia, Pulmonary hypoplasia, Dextrocardia OMIM:248700
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Dilated fourth ventricle, Coarctation of aorta, Abnormal... ORPHA:261183
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Ventriculomegaly, Alveolar capillary dysplasia... OMIM:265380
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfor... OMIM:619895
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Pulmonary hypopl... OMIM:313850
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Ventriculomegaly, Atri... ORPHA:261197
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Dandy-Walker Malformation With Postaxial Polydactyly
Vascular dilatation, Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Dilated fou... OMIM:220220
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
8P23.1 Microdeletion Syndrome
Short nose, Transposition of the great arteries, Atrioventricular canal defect, Abnormal aortic m... ORPHA:251071
Craniofacial-Deafness-Hand Syndrome
Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hypoplasia of the maxil... ORPHA:1529
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Retrognathia, Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation... ORPHA:91387
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly OMIM:608716
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, T lymphocytopenia, Bronchiectasis, Sinusitis, Micrognathia, Malar f... OMIM:242860
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Anteverted nares, Short palm, Micrognathia, Malar flattening, Patent ductus arteriosu... ORPHA:171839
Macdermot-Winter Syndrome
Ventriculomegaly OMIM:247990
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Lowry-Maclean Syndrome
Retrognathia, Short nose, Atrioventricular canal defect, Talon cusp, Abnormality of the abdominal... ORPHA:2409
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Anemia, Vascular dilatation, V... ORPHA:3287
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegaly, Atri... ORPHA:93274
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Mirage Syndrome
Anemia, Patent ductus arteriosus, Aspiration pneumonia, Hypoplastic spleen, Leukopenia, Thrombocy... OMIM:617053
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Diets-Jongmans Syndrome
Heterotaxy, Low hanging columella, Broad nasal tip, Ventricular septal defect, Interrupted inferi... OMIM:618846
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Abnormal aortic morphology, Tetra... ORPHA:1166
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Mitral valve prolapse, Azoospermia ORPHA:2183
Alg3-Cdg
Neural tube defect, Coarctation of the descending aortic arch, Dandy-Walker malformation, Cardiom... ORPHA:79321
Absence Of The Pulmonary Artery
Pulmonary edema, Recurrent respiratory infections, Right aortic arch, Truncus arteriosus, Abnorma... ORPHA:980
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Carpenter Syndrome 2
Situs inversus totalis, Retrognathia, Transposition of the great arteries, Atrial septal defect, ... OMIM:614976
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Pulmonic stenosis, Double outlet right ventricle, Ventriculomegaly, Ven... OMIM:301056
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Achondrogenesis Type 1A
Short nose, Anteverted nares, Micromelia, Short palm, Micrognathia, Short foot, Aplasia/Hypoplasi... ORPHA:93299
Prolidase Deficiency
Short nose, Hepatomegaly, Anemia, Prolonged neonatal jaundice, Micrognathia, Recurrent pneumonia,... OMIM:170100
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Achondrogenesis
Short nose, Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs ORPHA:932
Acromicric Dysplasia
Short nose, Anteverted nares, Short metacarpal, Short palm, Bulbous nose, Small hand ORPHA:969
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventr... OMIM:616652
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Coarctation of aorta, Ventricular septal defect, Recurrent respiratory infections OMIM:620210
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly ORPHA:85179
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus, Patent ductu... ORPHA:2184
Achondrogenesis Type 1B
Short nose, Anteverted nares, Micromelia, Micrognathia, Short foot, Aplasia/Hypoplasia of the lungs ORPHA:93298
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Right aortic arch,... ORPHA:95430
Foxp1 Syndrome
Retrognathia, Short nose, Mandibular prognathia, Abnormal heart morphology, Broad nasal tip, Recu... ORPHA:391372
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Ventricular septal defect OMIM:602501
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, Double outlet right ventricle... ORPHA:371428
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Pierpont Syndrome
Short finger, Short nose, Wide nose, Short palm, Short toe, Malar flattening, Broad nasal tip, Sh... OMIM:602342
Distal Triplication 15Q
Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology, Pul... ORPHA:314588
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Congenital Disorder Of Glycosylation, Type Iiy
Ventriculomegaly OMIM:620200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Prominent nasal bridge, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:613870
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Short 1st meta... ORPHA:93328
Craniosynostosis, Herrmann-Opitz Type
Short nose, Micromelia, Micrognathia, Malar flattening, Convex nasal ridge, Aplasia/Hypoplasia of... ORPHA:2145
Noonan Syndrome 12
Ventriculomegaly, Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Patent ... OMIM:277380
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Anteverted nares, Short ribs, Limb undergrowth, Patent ductus arteriosus, Depressed n... OMIM:618961
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Recurrent respiratory infections, Microretrognathia ORPHA:1389
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol... ORPHA:1458
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Mandibular prognathia ORPHA:2429
Verheij Syndrome
Retrognathia, Short nose, Anteverted nares, Truncus arteriosus, Broad nasal tip, Short 5th finger... OMIM:615583
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Aortic Arch Interruption
Bicuspid aortic valve, Transposition of the great arteries, Aortic valve atresia, Aortopulmonary ... ORPHA:2299
Fryns Syndrome
Abnormal aortic arch morphology, Dandy-Walker malformation, Abnormal aortic morphology, Pulmonary... ORPHA:2059
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele OMIM:620511
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly OMIM:300699
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Spina bi... ORPHA:1120
Joubert Syndrome With Ocular Defect
Hydrocephalus, Dextrocardia, Encephalocele ORPHA:220493
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Coronary artery fistula, Ventricular septal defect, Polysplenia,... OMIM:614294
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Depressed nasal ridge... ORPHA:2831
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly OMIM:613151
Harel-Yoon Syndrome
Short nose, Mandibular prognathia, Micrognathia, Hypertrophic cardiomyopathy OMIM:617183
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Micrognathia, Patent ductus arteriosus ORPHA:2547
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Stillbirth, Abnormal heart morphology OMIM:276950
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip, Prominence of the premaxilla OMIM:137550
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Vascular dilatation, Wide nose, Anteverted nares, Short ribs, Micromelia, Cardiomegal... OMIM:613320
3C Syndrome
Atrial septal defect, Short nose, Atrioventricular canal defect, Abnormal tricuspid valve morphol... ORPHA:7
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Thanatophoric Dysplasia
Hydrocephalus, Pulmonary hypoplasia, Patent ductus arteriosus, Ventriculomegaly, Atrial septal de... ORPHA:2655
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Anteverted nares, Short ribs, Pleural effusion, Hypertrophic cardiomyopathy, Microgna... OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Wide nasal bridge, Short nose OMIM:618577
Catel-Manzke Syndrome
Dextrocardia, Low insertion of columella, Short metacarpal, Micrognathia, Short humerus, Short to... OMIM:616145
Intellectual Developmental Disorder, X-Linked 111
Ventriculomegaly OMIM:301107
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Congenital Toxoplasmosis
Cardiomegaly, Ventriculomegaly, Hydrocephalus ORPHA:858
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased CSF lactate, Ventriculomegaly, Abnormal CSF pyruvate family amino acid concentration ORPHA:255182
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Sweeney-Cox Syndrome
Low hanging columella, Short clavicles, Patent foramen ovale, Choanal atresia, Asplenia, Microgna... OMIM:617746
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neuronal Intranuclear Inclusion Disease
Ventriculomegaly, CSF pleocytosis, Increased CSF protein concentration OMIM:603472
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Arteria lusoria, Hypoplasia of right ventricle, Left aortic arch with ce... OMIM:212093
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Short nose OMIM:617991
Pallister-Hall-Like Syndrome
Short nose, Short ribs, Micromelia, Micrognathia, Pulmonary hypoplasia, Depressed nasal bridge OMIM:241800
Craniodigital-Intellectual Disability Syndrome
Short nose, Micrognathia, Narrow nasal bridge ORPHA:1514
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Lateral ventricle dilatation OMIM:616816
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
16P12.1P12.3 Triplication Syndrome
Retrognathia, Short nose, Abnormal tricuspid valve morphology, Abnormal heart morphology, Malar f... ORPHA:485405
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Micrognathia, Microretrognathia, Ventricular septal defect OMIM:617201
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Hemimegalencephaly
Ventriculomegaly, Gliosis ORPHA:99802
Joubert Syndrome 31
Ventriculomegaly OMIM:617761
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Micrognathia, Prominent nasal bridge, Broad nasal tip OMIM:613544
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Short metacarpal, Micrognathia, Short toe, Limb undergrowth, Wide nasal bridge, Short... OMIM:614078
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Retrognathia, Atrial septal defect, Anemia, Patent ductus arteriosus, Vascular dilatation, Stroke... ORPHA:2637
Brain Small Vessel Disease 2
Ventriculomegaly OMIM:614483
Poikiloderma With Neutropenia
Retrognathia, Short nose, Underdeveloped nasal alae, Recurrent bronchopulmonary infections, Cario... OMIM:604173
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus, Abnormal pericardium morphology, Pulmonary hypoplasia,... ORPHA:1335
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly OMIM:618251
Ataxia-Deafness-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:1188
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Short nose, Short distal phalanx of toe, Vertebral hypoplasia, Nasal conges... ORPHA:79345
Distal Duplication 18Q
Short nose, Anteverted nares, Choanal atresia, Carious teeth, Micrognathia, Prominent nasal bridge ORPHA:1716
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Trisomy 5P
Ventriculomegaly ORPHA:1742
Autosomal Recessive Spastic Paraplegia Type 53
Ventriculomegaly ORPHA:319199
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge OMIM:613604
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic stenosis, Carious teeth ORPHA:2701
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased CSF lactate, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly ORPHA:2172
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Ventricular septal defect, Neonatal death OMIM:613730
Developmental And Epileptic Encephalopathy 9
Ventriculomegaly OMIM:300088
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pai... OMIM:617877
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Hepatomegaly, Recurrent respiratory infections, Narrow nasal bridge, Low hanging colu... OMIM:619383
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Dextrocardia, Patent ductus arteriosus ORPHA:1571
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Ventriculomegaly OMIM:617977
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Mitral valve prolapse ORPHA:90653
Fibrochondrogenesis 2
Short nose, Anteverted nares, Short ribs, Micrognathia, Malar flattening OMIM:614524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Short nose, Micrognathia, Slender nose OMIM:615419
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Neurooculorenal Syndrome
Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Hydrocephalus, Pa... OMIM:620305
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Repeated pneumothoraces, Aortic root aneurysm, Carious teeth, Coarctation ... OMIM:617602
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly OMIM:612951
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Cardiomyopathy, Prolonged neonatal jaundice, Wide nasal bridge OMIM:618437
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Epistaxis, Coombs-positive hemolytic anemia, Diffuse alv... OMIM:614034
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Hydrocephalus, Coarctation of aorta, Patent ductus arteriosus, Ventriculo... OMIM:300514
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent viral upper respiratory tract infections OMIM:616898
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Patent ductus arteri... OMIM:241310
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Abnormal astrocyte morphology, Gliosis ORPHA:168486
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Short nose, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Ventricul... OMIM:617061
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Diamond-Blackfan Anemia 8
Short nose, Macrocytic anemia, Increased mean corpuscular volume, Wide nasal bridge, Neutropenia OMIM:612563
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
Baker-Gordon Syndrome
Short nose, Prominent nasal tip OMIM:618218
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacarpal, Malar fl... OMIM:614613
Tetrasomy 9P
Amelogenesis imperfecta, Jaundice, Dextrocardia, Biliary atresia, Juxtaductal coarctation of the ... ORPHA:3310
3-Hydroxyisobutyric Aciduria
Ventriculomegaly ORPHA:939
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cardiomyopathy OMIM:613155
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Accessory spleen, Interrupted aortic arch, Anteverted nares,... OMIM:164280
Clark-Baraitser Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella OMIM:617752
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Mandibular prognathia, Patent foramen ovale, Abnormal heart morphology, Ventricular s... ORPHA:369891
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Autosomal Recessive Omodysplasia
Short nose, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Mesomelia, Depressed nasal br... ORPHA:93329
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Ventriculomegaly OMIM:616531
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Atrial septal ... OMIM:611134
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge ORPHA:2835
Baraitser-Winter Syndrome 1
Retrognathia, Short nose, Anteverted nares, Aortic valve stenosis, Patent ductus arteriosus, Bicu... OMIM:243310
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Micrognathia, Short nose, Depressed nasal bridge OMIM:614744
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Patent foramen ovale, Colpocephaly, Patent... OMIM:301043
Timothy Syndrome
Pneumonia, Bronchitis, Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardi... OMIM:601005
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Vascular dilatation OMIM:219730
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis ORPHA:820
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Anteverted nares, Mandibular prognathia, Short toe, Short distal phalanx of finger, D... ORPHA:1327
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Even-Plus Syndrome
Short nose, Patent foramen ovale, Bifid nasal tip, Depressed nasal ridge, Atrial septal defect OMIM:616854
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Ascending tubular aorta aneu... ORPHA:3092
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Abnormal heart morphology, Tetralogy of Fallot, Mitral stenosis, Pulmona... ORPHA:2847
Microcephaly 27, Primary, Autosomal Dominant
Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation OMIM:619180
Glutamine Deficiency, Congenital
Short nose, Anteverted nares, Micromelia, Recurrent respiratory infections, Wide nasal bridge, De... OMIM:610015
17P13.3 Microduplication Syndrome
Short nose, Wide nose ORPHA:217385
Emanuel Syndrome
Recurrent respiratory infections, Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, P... OMIM:609029
Oxoglutarate Dehydrogenase Deficiency
Ventriculomegaly OMIM:203740
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, Short nose, Recurrent lower respiratory tract infections, Limb undergrowth, Patent ... OMIM:618005
Giant Cell Arteritis
Recurrent pharyngitis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular se... ORPHA:397
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Anosmia, Short distal phalanx of finger, Depressed nasal bridge OMIM:302950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Short nose, Rhizomelia, Bulbous nose, Micrognathia, Coarctation of aorta,... OMIM:614114
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Mitral stenosis, Tetralogy of Fallot, Patent... ORPHA:163956
Edinburgh Malformation Syndrome
Anteverted nares, Micrognathia, Choanal atresia, Short nose ORPHA:1895
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Pde4D Haploinsufficiency Syndrome
Short nose, Short metatarsal, Upper limb undergrowth, Abnormal dental enamel morphology, Mandibul... ORPHA:439822
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Bicuspid aortic valve, Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary... OMIM:618164
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hydrocephalus OMIM:269920
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Dandy-Walker malformation, Ventricular septal defect OMIM:616920
Arterial Calcification, Generalized, Of Infancy, 1
Renal artery stenosis, Generalized arterial calcification, Carotid artery calcification, Arterial... OMIM:208000
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Patent foramen ovale, Hypoplasia of the maxilla, Right ventricular hypertr... OMIM:614261
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Micrognathia OMIM:615042
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Short nose, Anteverted nares, Aspiration pneumonia, Micrognathia, Recurrent pneumonia, Abnormal h... ORPHA:314655
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
C Syndrome
Short nose, Hepatomegaly, Anteverted nares, Short metacarpal, Micromelia, Micrognathia, Limb unde... OMIM:211750
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Abnormal heart morphology, Recurrent pneumonia, Patent ductus arteriosus, B... ORPHA:500159
Ohdo Syndrome
Short nose, Anteverted nares, Hypoplasia of teeth, Micrognathia, Wide nasal bridge, Depressed nas... OMIM:249620
Gaucher Disease, Perinatal Lethal
Retrognathia, Short nose, Hepatomegaly, Anemia, Anteverted nares, Micrognathia, Pulmonary hypopla... OMIM:608013
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Hypomandibular Faciocranial Dysostosis
Short nose, Recurrent respiratory infections, Anteverted nares, Maxillozygomatic hypoplasia, Choa... ORPHA:1790
Fg Syndrome 5
Short nose, Anteverted nares, Depressed nasal bridge OMIM:300581
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Gliosis, Abnormal CSF pyruvate family amino acid concentration, Basal gang... ORPHA:79243
Miller-Dieker Syndrome
Short nose, Anteverted nares ORPHA:531
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of Virchow-Robin spaces, Hy... ORPHA:261311
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, Co... OMIM:600987
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Mandibular prognathia, Micrognathia, Hypertrophic cardiomyopathy ORPHA:496790
Distal Deletion 15Q
Abnormal aortic arch morphology, Coarctation of aorta, Double outlet right ventricle with doubly ... ORPHA:1596
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventriculomegaly, Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Teebi Hypertelorism Syndrome 2
Short nose, Broad nasal tip, Depressed nasal bridge, Delayed eruption of teeth OMIM:619736
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Nephronophthisis 18
Hydrocephalus OMIM:615862
Blomstrand Lethal Chondrodysplasia
Short nose, Rhizomelia, Anteverted nares, Short ribs, Short metacarpal, Micrognathia, Mesomelia, ... ORPHA:50945
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Abnormal B cell morphology, Depressed nasal bridge OMIM:616910
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity,... ORPHA:699
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect ORPHA:79113
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Ventriculomegaly OMIM:611555
Restrictive Dermopathy
Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Temporomandi... ORPHA:1662
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Shortening of all distal phalanges of the fingers, Broad nasal tip, Atrial septal def... OMIM:614749
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Abnormal heart morphology OMIM:175700
Microphthalmia, Syndromic 2
Supernumerary tooth, Atrial septal defect, Dextrocardia, Hypoplastic aortic arch, Delayed eruptio... OMIM:300166
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Myocarditis, Short nose, Abnormal zygomatic bone morphology, ... ORPHA:3342
Congenital Disorder Of Glycosylation, Type Il
Short nose, Hepatomegaly, Pericardial effusion, Splenomegaly, Atrial septal defect, Depressed nas... OMIM:608776
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Ventricular septal defect, Patent duct... ORPHA:392
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Dandy-Walker malformation, Patent foramen ovale, H... OMIM:617506
Vitamin K Antagonist Embryofetopathy
Short nose, Anteverted nares, Choanal atresia, Short distal phalanx of finger, Depressed nasal br... ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Recurrent pneumonia, Lateral ventricle dilatation, Patent ductus arteri... OMIM:617751
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Patent foramen ovale, Tetralogy of Fallot, Patent ductu... OMIM:612582
Johanson-Blizzard Syndrome
Situs inversus totalis, Hypoplasia of the primary teeth, Intrahepatic cholestasis, Hepatomegaly, ... OMIM:243800
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Abnormal nasal bridge morphology, Aortic aneurysm, Micrognathia, Cerebral hemorrhag... ORPHA:536545
Desmosterolosis
Abnormality of the nose, Retrognathia, Short nose, Micromelia, Micrognathia, Splenomegaly, Patent... ORPHA:35107
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Recurrent lower respiratory tract infections, Micrognathia, Natal tooth, Depressed na... OMIM:617802
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio... OMIM:610338
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Stillbirth OMIM:215045
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intra... ORPHA:136
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Patent ductus arteriosus, ... OMIM:612938
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Shortening of all distal phalanges of the fingers, Short nose, Broad nasal tip, Wide nasal bridge OMIM:615716
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, Respiratory tract infection, Wide nasal bridge OMIM:218000
Opsismodysplasia
Short nose, Hepatomegaly, Hypoplastic vertebral bodies, Splenomegaly, Recurrent respiratory infec... ORPHA:2746
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Ventricular septal defect OMIM:615630
Acrodysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Short metatarsal, Delayed eruption ... ORPHA:950
Prune Belly Syndrome
Recurrent respiratory infections, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal de... ORPHA:2970
Pterygium Colli, Isolated
Short nose OMIM:177990
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Dextrotransposition of the great arteries, Left ventricular hypertr... OMIM:618619
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Autosomal Recessive Primary Microcephaly
Ventriculomegaly ORPHA:2512
Macrocephaly/Autism Syndrome
Short nose, Hepatomegaly, Dilation of Virchow-Robin spaces, Splenomegaly, Lymphopenia, Depressed ... OMIM:605309
Chromosome 19Q13.11 Deletion Syndrome, Distal
Retrognathia, Short nose, Anteverted nares, Carious teeth, Micrognathia, Wide nasal bridge, Under... OMIM:613026
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Intellectual Developmental Disorder, X-Linked 21
Short nose, Mandibular prognathia OMIM:300143
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Prolonged neonatal jaundice, Prominent nasal bridge, Bulbous nose, Depressed nasal br... OMIM:618828
Kleefstra Syndrome
Short nose, Advanced eruption of teeth, Delayed eruption of teeth, Anteverted nares, Mandibular p... ORPHA:261494
Orofaciodigital Syndrome Xv
Ventriculomegaly OMIM:617127
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Micrognathia, Ventricular septal defect, Recurrent upper respiratory tract infections ORPHA:3078
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly OMIM:618008
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Noonan Syndrome 8
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ... OMIM:615355
Thanatophoric Dysplasia Type 1
Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Aplasia/Hypoplas... ORPHA:1860
Kohlschutter-Tonz Syndrome
Ventriculomegaly OMIM:226750
Microphthalmia With Limb Anomalies
Retrognathia, Fibular hypoplasia, Short nose, Flared nostrils, Finger aplasia, Foot oligodactyly,... OMIM:206920
Robinow Syndrome, Autosomal Recessive 2
Short nose, Anteverted nares, Micrognathia, Mesomelia, Broad nasal tip, Bicuspid aortic valve, Wi... OMIM:618529
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Ventricular septal defect, Periph... OMIM:613001
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus ORPHA:77298
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Hepatic steatosis, Depressed nasal bridge ORPHA:210548
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Coach Syndrome 2
Hydrocephalus OMIM:619111
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Emanuel Syndrome
Recurrent respiratory infections, Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, P... ORPHA:96170
Linear Verrucous Nevus Syndrome
Astrocytoma, Ventriculomegaly, Dandy-Walker malformation ORPHA:2611
Hemangioblastoma
Hydrocephalus ORPHA:252054
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly ORPHA:206559
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Gliosis OMIM:612936
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Anteverted nares, Cardiomyopathy, Short palm, Micrognathia, Patent ductus arteriosus,... OMIM:217980
Meckel Syndrome, Type 8
Pericardial effusion, Short nose, Depressed nasal ridge OMIM:613885
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge OMIM:618774
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Ventricular sept... OMIM:614576
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Choanal atresia, Micrognathia, Malar flattening, Atrial septal defe... OMIM:610536
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Ventricular septal defect, Patent duct... ORPHA:290
Lissencephaly, X-Linked, 2
Ventriculomegaly, Gliosis OMIM:300215
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Increased CSF protein concentration, Gliosis OMIM:203700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Depressed nasal ridge, Short palm, Micrognathia, Short foot ORPHA:163966
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology ORPHA:1923
Arachnoiditis
Hydrocephalus ORPHA:137817
X-Linked Intellectual Disability, Cantagrel Type
Ventriculomegaly ORPHA:85277
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Cadds
Short nose, Micrognathia, Cholestasis, Cholangitis ORPHA:369942
Al-Raqad Syndrome
Short nose, Atrial septal defect OMIM:616459
Intellectual Disability-Strabismus Syndrome
Short nose, Narrow nasal ridge, Micrognathia, Patent ductus arteriosus, Prominent nose, Atrial se... ORPHA:363528
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Bulbous nose, Wide nasal bridge OMIM:620292
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ventriculomegaly OMIM:618273
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Hepatomegaly, Dental malocclusion, Micrognathia, Recurrent respiratory infections ORPHA:329178
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, 11 pairs of ribs, Hypoplasia of the calcaneus, Depressed nasal ridge, Dis... OMIM:300863
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Dysplastic pulmonary valve, Hydrocephalus, Mitral... OMIM:612863
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Keutel Syndrome
Pulmonary artery stenosis, Recurrent sinusitis, Ventricular septal defect, Recurrent respiratory ... ORPHA:85202
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Hyperplasia of the p... OMIM:614753
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Atrial septal defect, Tricuspid atresia, Abnormal aortic valve morphology... ORPHA:567
De Barsy Syndrome
Hypoplastic aortic arch, Prominent veins on trunk, Recurrent sinopulmonary infections, Patent duc... ORPHA:2962
Coffin-Siris Syndrome
Short nose, Wide nasal base, Patent ductus arteriosus, Delayed eruption of teeth, Anteverted nare... ORPHA:1465
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Short nose, Intrahepatic cholestasis, Anteverted nares... OMIM:607330
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Short nose, Hepatomegaly, Rhizomelia, Convex nasal ... ORPHA:79328
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Recurrent respiratory infections, Small hand OMIM:618618
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Missing ribs, Choanal s... OMIM:619859
Chops Syndrome
Short nose, Anteverted nares, Patent foramen ovale, Ventricular septal defect, Aspiration pneumon... OMIM:616368
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Hemiatrophy of upper limb, Anteverted nares, Micrognathia, Depressed nasal bridge ORPHA:163649
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Phace Association
Vascular dilatation, Aortic aneurysm, Dandy-Walker malformation, Coarctation of aorta, Arterial s... OMIM:606519
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Leukodystrophy, Hypomyelinating, 24
Ventriculomegaly OMIM:619851
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:2083
Diaphanospondylodysostosis
Short nose, Abnormal liver lobulation, Missing ribs, Depressed nasal ridge, Micrognathia, Pulmona... OMIM:608022
Dermotrichic Syndrome
Short nose, Anemia, Depressed nasal bridge ORPHA:99688
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Ventriculomegaly OMIM:300858
Donnai-Barrow Syndrome
Short nose, Ventricular septal defect, Depressed nasal bridge ORPHA:2143
Robinow Syndrome, Autosomal Dominant 3
Short nose, Anteverted nares, Patent foramen ovale, Pulmonary artery atresia, Ventricular septal ... OMIM:616894
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Anteverted nares, Aspiration pneumonia, Intraventricular hemorrhage, Wide nasal bridg... OMIM:616430
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Pfeiffer Syndrome
Short nose, Shortening of all middle phalanges of the fingers, Mandibular prognathia, Short middl... OMIM:101600
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Anteverted nares, Patent foramen ovale, Bulbous nose, Micrognathia, Coarctation of ao... OMIM:618454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ... OMIM:253800
Atelis Syndrome 1
Bronchiectasis, Atrial septal defect, Ventricular septal defect OMIM:620184
Robinow Syndrome
Mesomelic arm shortening, Acromesomelia, Pulmonic stenosis, Mesomelia, Abnormal heart morphology,... ORPHA:97360
Smith-Magenis Syndrome
Short nose, Anteverted nares, Mandibular prognathia, Micrognathia, Depressed nasal bridge, Wide n... ORPHA:819
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis ORPHA:258
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Increased CSF lactate, Ventriculomegaly OMIM:619059
Lambotte Syndrome
Semilobar holoprosencephaly, Ventricular septal defect OMIM:245552
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Wide nose, Anteverted nares, Hypoplasia of teeth, Micrognathia ORPHA:391408
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Desmosterolosis
Short nose, Rhizomelia, Anteverted nares, Total anomalous pulmonary venous return, Micrognathia, ... OMIM:602398
Joubert Syndrome 9
Ventriculomegaly, Encephalocele OMIM:612285
Omodysplasia 1
Short nose, Fibular hypoplasia, Rhizomelia, Ventricular septal defect, Pulmonary artery stenosis,... OMIM:258315
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Abnormal heart morphology, Microretrognathia, Bulbous nose, Wide nasal bridge OMIM:618571
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Retrognathia, Short nose, Hypoplasia of teeth, Micrognathia, Wide nasal bridge OMIM:620250
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Monosomy 18Q
Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, Hydrocephalus, Absence of t... ORPHA:1600
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Intracranial hemorrhage, Ve... OMIM:614424
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v... OMIM:618494
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Abnormal cerebral arte... ORPHA:90065
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short nose, Jaundice, Anteverted nares, Prolonged neonatal jaundice, Malar flattening, Concave na... OMIM:613038
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Fetal Alcohol Syndrome
Atrial septal defect, Micrognathia, Anteverted nares, Short nose ORPHA:1915
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect, Lateral ventricle dilatation OMIM:619995
Trigonocephaly 1
Short nose, Wide nasal bridge OMIM:190440
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Short nose, Bulbous nose, Malar flattening OMIM:616420
Premature Aging Syndrome, Penttinen Type
Retrognathia, Short nose, Delayed eruption of teeth, Hypoplasia of the maxilla, Short palm, Micro... OMIM:601812
Microcephalic Primordial Dwarfism, Toriello Type
Ventriculomegaly ORPHA:2643
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Mandibular prognathia, Abnormal heart morphology, Short toe, Malar flattening, Broad ... OMIM:239300
Temple Syndrome
Hydrocephalus ORPHA:254516
Trisomy 12P
Short nose, Micrognathia, Wide nasal bridge, Malar flattening ORPHA:1699
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect, Holoprosencephaly OMIM:601357
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Anteverted nares, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, C... ORPHA:96147
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg... OMIM:615219
Fibrochondrogenesis 1
Short nose, Fibular hypoplasia, Rhizomelia, Anteverted nares, Patent foramen ovale, Posterior ver... OMIM:228520
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Gliosis OMIM:300957
Non-Distal Duplication 13Q
Short nose, Micrognathia ORPHA:1702
Frank-Ter Haar Syndrome
Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v... OMIM:249420
Alkuraya-Kucinskas Syndrome
Short nose, Anteverted nares, Pleural effusion, Pericardial effusion, Micrognathia, Depressed nas... OMIM:617822
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Short nose, Wide ... OMIM:608779
Trisomy 8P
Abnormal lung lobation, Retrognathia, Annular pancreas, Short nose, Abnormal left ventricle morph... ORPHA:264450
Bartsocas-Papas Syndrome
Short nose, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent thumb, U... ORPHA:1234
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Chylothorax, Arteriovenous fistula, Hydrocephalus, Peripheral arterio... ORPHA:137667
Adams-Oliver Syndrome
Arteriovenous malformation, Encephalocele, Hydrocephalus, Pulmonary artery atresia, Tetralogy of ... ORPHA:974
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Pulmonary artery stenosis, Tetralogy of Fallot, Double outle... OMIM:280000
Joubert Syndrome 30
Ventriculomegaly, Dandy-Walker malformation OMIM:617622
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Marshall Syndrome
Short nose, Anteverted nares, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Micrognathi... ORPHA:560
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long nose, Short nose, Delayed eruption of teeth, Low hanging columella, Anteverted nares, Underd... OMIM:615866
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus OMIM:618223
Femoral-Facial Syndrome
Short nose, Aplasia/Hypoplasia of the tibia, Micrognathia, Short femur ORPHA:1988
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Hydrocephalus, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:250989
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Gaucher Disease, Type Iiic
Calcification of the aorta, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Aortic va... OMIM:231005
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele ORPHA:370959
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Short nose, Anteverted nares, Hypoplasia of teeth, Ventricular septal defect OMIM:234050
X-Linked Lissencephaly With Abnormal Genitalia
Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:452
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Short clavicles, Narrow nasal ridge, Hypoplasia of teeth, Micrognathia, Prominent sup... OMIM:608612
Frontofacionasal Dysplasia
Short nose, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depress... ORPHA:1791
Tetrasomy 5P
Short nose, Short hallux, Anteverted nares, Micrognathia, Pulmonary hypoplasia, Recurrent respira... ORPHA:3309
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia, Short distal phalanx of finger, Hypoplasia of t... ORPHA:1295
Trisomy 1Q
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:261344
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Atri... OMIM:619769
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Anteverted nares, Short palm, Microretrognathia, Bulbous nose, Absent nasa... ORPHA:261211
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Desbuquois Dysplasia 1
Short nose, Short metatarsal, Concave nasal ridge, Malar flattening, Microretrognathia, Short fem... OMIM:251450
Peho Syndrome
Retrognathia, Short nose OMIM:260565
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Tetrasomy 12P
Anteverted nares, Short nose, Delayed eruption of teeth ORPHA:884
Prader-Willi Syndrome Due To Translocation
Retrognathia, Short nose, Underdeveloped nasolabial fold, Narrow nasal bridge, Anteverted nares, ... ORPHA:177907
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Anteverted nares, Tetralogy of Fallot, Short femoral neck, Enamel agenesis, Wide nasa... OMIM:614701
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Abnormal mitochondrial shape, Patent foramen ovale, Increased CSF lactat... ORPHA:17
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventriculomegaly, Atrial sep... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Short nose, Mandibular prognathia, Depressed nasal ridge, Short palm, Micrognathia,... OMIM:156200
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Short nose, Anteverted nares, Restrictive cardiomyopathy, Patent ductus a... OMIM:615398
Microform Holoprosencephaly
Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Tetralogy ... ORPHA:280200
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Cardiomegaly, Abnormal hea... ORPHA:363705
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly, Abnormal cardiac septum morphology ORPHA:3376
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge OMIM:122880
Congenital Sialidosis Type 2
Hydrocephalus, Abnormal heart morphology, Respiratory tract infection, Cherry red spot of the macula ORPHA:93400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Ventriculomegaly, Gliosis, Increased CSF lactate OMIM:604377
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Short nose, Hepatomegaly, Decreased proportion of CD8-positive T cells, Aplasia/hypopl... ORPHA:508533
Poland Syndrome
Acute leukemia, Dextrocardia, Aplasia/Hypoplasia of the thumb, Short ribs, Absent hand, Missing r... ORPHA:2911
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
Long-Olsen-Distelmaier Syndrome
Subependymal cysts, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricu... OMIM:620609
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:615668
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary... ORPHA:141127
Bainbridge-Ropers Syndrome
Retrognathia, Short nose, Anteverted nares, Micrognathia, Broad nasal tip, Malar flattening, Choa... OMIM:615485
Dysbetalipoproteinemia
Hepatomegaly, Type IV atherosclerotic lesion, Premature coronary artery atherosclerosis, Acute pa... ORPHA:412
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Patent foramen ovale, Recurrent pneumonia, Prominent nasal bridge, Wide nasal bridge OMIM:619179
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly ORPHA:2158
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Atelectasis, Repeated pneumothoraces, Aortic root aneurysm, Anteverted nares, Ascendi... ORPHA:536467
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Short nose, Bulbous nose, Depressed nasal bridge OMIM:614105
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Mandibular prognathia, Bulbous nose, Depressed nasal bridge ORPHA:261144
Hec Syndrome
Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis ORPHA:2119
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis ORPHA:309854
Smith-Kingsmore Syndrome
Short nose, Short proximal phalanx of finger, Rhizomelia, Thrombocytopenia, Short distal phalanx ... OMIM:616638
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short nose, Anteverted nares, Micrognathia, Pulmonary hypoplasia, Patent ductus arteriosus, Short... OMIM:614080
Achondrogenesis, Type Ia
Hypoplasia of the radius, Hypoplastic sacrum, Short nose, Severe limb shortening, Short clavicles... OMIM:200600
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:139466
Distal Deletion 10Q
Short nose, Short metatarsal, Micrognathia, Prominent nasal bridge, Patent ductus arteriosus, Pro... ORPHA:96148
Acrocephalopolydactylous Dysplasia
Short nose, Hepatomegaly, Extrapulmonary lobar sequestration, Micromelia, Pulmonary hypoplasia, H... OMIM:200995
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Hypoplasia of ... OMIM:613603
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Ventricul... OMIM:618870
Seckel Syndrome 9
Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventriculomegaly, Atrial septal de... OMIM:616777
Toluene Embryopathy
Short nose, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1920
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Primum atrial septal defect, Recurrent pneumonia, Right ve... ORPHA:1329
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect OMIM:614815
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Abnormal cardiac septum morphology ORPHA:238769
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Lateral Meningocele Syndrome
Meningocele, Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Bicuspid aortic valve, Ven... OMIM:130720
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Ventriculomegaly OMIM:615760
Otopalatodigital Syndrome Type 2
Fibular aplasia, Short nose, Short hallux, Abnormal heart valve morphology, Hypoplastic frontal s... ORPHA:90652
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hydrocephalus, Intracranial hemorrhage, Patent ductus arteriosus, Atrial... ORPHA:163979
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Abnormal dental enamel morphology, ... ORPHA:3258
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Mandibular prognathia OMIM:618087
Ogden Syndrome
Left atrial enlargement, Bifid nasal tip, Cardiomegaly, Bicuspid aortic valve, Perimembranous ven... OMIM:300855
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p... OMIM:610978
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus, Patent ductus arteriosus ORPHA:261290
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Atrial septal defect, Hydrocephalus ORPHA:459061
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... ORPHA:329224
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Wide nose, Anteverted nares, Pulmonic stenosis, Short sternum, Micrognathia, Depresse... OMIM:257300
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Short nose, Short hallux, Absent frontal sinuses, Short 3rd metacarpal, Mal... OMIM:311300
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Short-Rib Thoracic Dysplasia 12
Atelectasis, Anencephaly, Hydrocephalus, Patent foramen ovale, Neonatal death, Pulmonary hypoplas... OMIM:269860
Baller-Gerold Syndrome
Short nose, Aplasia/Hypoplasia of the thumb, Narrow nasal bridge, Aplasia/Hypoplasia of the patel... ORPHA:1225
Noonan Syndrome 3
Short nose, Juvenile myelomonocytic leukemia, Tricuspid valve prolapse, Anteverted nares, Patent ... OMIM:609942
Beck-Fahrner Syndrome
Cardiomegaly, Ventriculomegaly, Ventricular septal defect, Extra-axial cerebrospinal fluid accumu... OMIM:618798
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Kaufman Oculocerebrofacial Syndrome
Short nose, Anteverted nares, Carious teeth, Micrognathia, Coarctation of aorta, Atrial septal de... OMIM:244450
20Q11.2 Microduplication Syndrome
Retrognathia, Short nose, Abnormal nasal bridge morphology, Anteverted nares, Short palm, Wide na... ORPHA:363659
Aarskog-Scott Syndrome
Short nose, Anteverted nares, Hypoplasia of the maxilla, Short palm, Hypoplasia of the odontoid p... OMIM:305400
Combined Oxidative Phosphorylation Deficiency 14
Basal ganglia gliosis, Ventriculomegaly, Gliosis, Increased CSF lactate OMIM:614946
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Communicatin... ORPHA:1780
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Crouzon Syndrome
Hydrocephalus ORPHA:207
Autosomal Recessive Robinow Syndrome
Supernumerary tooth, Atrial septal defect, Short nose, Abnormal tricuspid valve morphology, Antev... ORPHA:1507
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short nose, Malar flattening OMIM:601853
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Dandy-Walker malformation, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Vent... OMIM:220500
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno... ORPHA:2396
Cockayne Syndrome Type 3
Astrocytosis ORPHA:90324
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Wide nose, Abnormal heart valve morphology, Temporomandibula... ORPHA:217085
Acrofacial Dysostosis, Catania Type
Short nose, Carious teeth, Short palm, Microretrognathia, Hypoplasia of the zygomatic bone, Small... ORPHA:1786
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Recurrent respiratory infe... OMIM:618950
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal tricuspid valve morphology, Wide nose, Abnormal heart valve morphology, Te... ORPHA:580
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Abnormal heart morphology, Pulmonary hypoplasia, Encephalocele ORPHA:1865
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619909
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, 11 pairs of ribs, Low hanging columella, Short clavicles, Short... OMIM:136140
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Recurrent pneumonia OMIM:616651
Oculodentodigital Dysplasia
Abnormality of the nose, Short nose, Short hallux, Narrow nasal bridge, Abnormal dental enamel mo... ORPHA:2710
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Patent foramen ovale, Micrognathia, Mesomelia, Patent ductus arteriosus, Ventricular ... OMIM:613457
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Short nose, Patent ductus arteriosus, Anteverted nares, Choa... OMIM:602535
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Advanced eruption of teeth, Broad columella, Depressed nasal bridge OMIM:617865
Donnai-Barrow Syndrome
Short nose, Short sternum, Broad nasal tip, Malar flattening, Ventricular septal defect, Depresse... OMIM:222448
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Waardenburg Syndrome Type 1
Short nose, Mandibular prognathia, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Meier-Gorlin Syndrome 6
Short nose, Emphysema, Anteverted nares, Underdeveloped nasal alae, Depressed nasal ridge, Short ... OMIM:616835
Musculocontractural Ehlers-Danlos Syndrome
Pneumothorax, Short nose, Abnormal heart valve morphology, Abnormal heart morphology, Abnormal me... ORPHA:2953
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Marshall-Smith Syndrome
Retrognathia, Short nose, Anteverted nares, Choanal atresia ORPHA:561
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Robinow Syndrome, Autosomal Dominant 2
Short nose, Calvarial osteosclerosis, Anteverted nares, Micrognathia, Mesomelia, Short distal pha... OMIM:616331
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Vascular dilatation, Restrictive cardiomyopathy, Mitral valve pr... ORPHA:758
Arthrogryposis, Distal, Type 2A
Short nose, Mandibular prognathia, Malar flattening, Recurrent respiratory infections, Wide nasal... OMIM:193700
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Neonatal Lupus Erythematosus
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short nose, Anteverted nares, Prominent veins on trunk, Carious teeth, Broad nasal tip, Malar fla... ORPHA:357074
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Short nose, Wide nose, Micrognathia, Prominent nasal bridge, Convex nasal ridge, Dental malocclus... ORPHA:251028
Temple Syndrome
Hydrocephalus OMIM:616222
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Wide nose, Abnormal heart valve morphology, Temporomandibula... ORPHA:217093
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Constricting Bands, Congenital
Abnormal lung lobation, Ectopia cordis, Encephalocele OMIM:217100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Miller-Dieker Lissencephaly Syndrome
Short nose, Delayed eruption of teeth, Anteverted nares, Micrognathia, Abnormal heart morphology,... OMIM:247200
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis OMIM:618021
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose, Eruption failure, Aplasia of the 1st metacarpal, Short palm, Micrognathia, Partial ab... ORPHA:476126
Ruvalcaba Syndrome
Short nose, Short metacarpal, Micromelia, Convex nasal ridge, Small hand ORPHA:3121
Woods Syndrome
Ventricular septal defect OMIM:615236
Toriello-Carey Syndrome
Short nose, Cardiomyopathy, Pulmonic stenosis, Micrognathia, Coarctation of aorta, Tetralogy of F... ORPHA:3338
Gapo Syndrome
Short nose, Hepatomegaly, Anteverted nares, Eruption failure, Prominent scalp veins, Micrognathia... OMIM:230740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Hepatomegaly, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae... OMIM:619005
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Short nose, Epistaxis, Cerebral hemorrhage OMIM:277450
Raine Syndrome
Short nose, Mandibular prognathia, Choanal atresia, Micromelia, Enamel hypoplasia, Micrognathia, ... OMIM:259775
Temtamy Preaxial Brachydactyly Syndrome
Short nose, Short hallux, Talon cusp, Hypoplasia of the maxilla, Short palm, Micrognathia, Short ... ORPHA:363417
Geleophysic Dysplasia 2
Short nose, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Short palm, Mitral stenosis,... OMIM:614185
Osteoglophonic Dysplasia
Short nose, Rhizomelia, Short metatarsal, Delayed eruption of teeth, Anteverted nares, Eruption f... OMIM:166250
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Bulbous nose, Depressed nasal bridge OMIM:618430
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Jacobsen Syndrome
Atrial septal defect, Annular pancreas, Short nose, Anteverted nares, Missing ribs, Micrognathia,... OMIM:147791
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Short nose, Hypochromic microcytic anem... OMIM:301040
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Short nose, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic stenosi... OMIM:115150
Pontocerebellar Hypoplasia, Type 2E
Short nose, Micrognathia, Wide nose OMIM:615851
Trisomy 13
Abnormal lung lobation, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:3378
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Kawasaki Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Vasculitis, Ascen... ORPHA:2331
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge OMIM:614732
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Agenesis of ... ORPHA:364577
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Carotid artery stenosis, Prominent sup... OMIM:618000
Ogden Syndrome
Pulmonary artery stenosis, Ventriculomegaly, Ventricular septal defect ORPHA:276432
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Accelerated atherosclerosis, Coronary artery steno... ORPHA:31150
Pfeiffer Syndrome Type 1
Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Short palm, Short foot, Depressed nasa... ORPHA:93258
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:615879
Fg Syndrome Type 1
Hydrocephalus, Coarctation of aorta, Mitral valve prolapse, Ventriculomegaly, Atrial septal defect ORPHA:93932
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Short nose, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Bone... ORPHA:505248
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Congenital hepatic fibrosis, Underdeveloped nasal alae ORPHA:2031
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short nose, Anteverted nares, Micrognathia, Patent ductus arteriosus, Recurrent respiratory infec... ORPHA:2282
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarc... OMIM:616564
Van Esch-O'Driscoll Syndrome
Retrognathia, Pulmonary valve atresia, Short nose, Pulmonary artery stenosis, Short middle phalan... OMIM:301030
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Kagami-Ogata Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Patent ductus arteriosus, Atrial septal defect, Ventricu... OMIM:608149
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Hypoplastic aortic arch, Spina bifida occu... ORPHA:508488
Meckel Syndrome, Type 1
Vascular dilatation, Accessory spleen, Asplenia, Bile duct proliferation, Micrognathia, Natal too... OMIM:249000
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Anteverted nares, Thrombocytopenia, Malar flattening, Dilatation of the cerebral artery OMIM:612394
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Recurrent respiratory infec... OMIM:619575
Atelosteogenesis, Type I
Fibular aplasia, Short finger, Short nose, Rhizomelia, 11 pairs of ribs, Short metatarsal, Verteb... OMIM:108720
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Pallister-Hall Syndrome
Abnormal lung lobation, Short 4th metacarpal, Short nose, Anteverted nares, Choanal atresia, Pred... OMIM:146510
Jacobsen Syndrome
Short nose, Annular pancreas, Anteverted nares, Missing ribs, Aortic valve stenosis, Bone marrow ... ORPHA:2308
Muenke Syndrome
Hydrocephalus ORPHA:53271
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Bresek Syndrome
Hydrocephalus ORPHA:85284
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Opsismodysplasia
Short nose, Rhizomelia, Anteverted nares, Short metacarpal, Short palm, Hypoplastic vertebral bod... OMIM:258480
Bannayan-Riley-Ruvalcaba Syndrome
Short nose, Arteriovenous malformation, Wide nose, Aortic aneurysm, Anteverted nares, Micrognathi... ORPHA:109
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Neonatal death, Tetralogy of Fallot, Complete atrioventricular canal defect OMIM:617925
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Narrow nasal bridge ORPHA:544503
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short nose, Carpal bone hypoplasia, Patent foramen ovale, Short metacarpal, Short fourth metatars... ORPHA:457395
Tetrasomy 18P
Short nose ORPHA:3307
Floating-Harbor Syndrome
Long nose, Mesocardia, 11 pairs of ribs, Narrow nasal bridge, Low hanging columella, Short clavic... ORPHA:2044
Down Syndrome
Short nose, Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic system, Depress... ORPHA:870
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Abnormal heart morphology OMIM:601499
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, A... OMIM:601808
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Pseudoxanthoma Elasticum, Forme Fruste
Premature occlusive vascular stenosis, Arteriosclerosis, Cerebral hemorrhage, Medial calcificatio... OMIM:177850
Oculodentodigital Dysplasia
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Underdeveloped nasal al... OMIM:164200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Coronary artery atherosclerosis, Acute hepatic steatosis, Chole... ORPHA:209902
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the ulna, Aplasia/hypoplasia of the femur, Hypoplasia of the radius, Fibular hypopl... OMIM:609945
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Khan-Khan-Katsanis Syndrome
Short nose, Anemia, Patent foramen ovale, Bilateral superior vena cava with no bridging vein, Mic... OMIM:618460
Craniofacioskeletal Syndrome
Interrupted aortic arch, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:617452
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Short nose, Hepatomegaly, Pleural effusion, Micrognathia, Pulmonary hypoplasia, Wid... OMIM:620369
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Lathosterolosis
Anisopoikilocytosis, Short nose, Intrahepatic cholestasis, Hepatomegaly, Anteverted nares, Microg... ORPHA:46059
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Coronary artery atherosclerosis, Episodic hemo... OMIM:210250
Rere-Related Neurodevelopmental Syndrome
Ventriculomegaly, Abnormal heart morphology, Ventricular septal defect ORPHA:494344
Limb Body Wall Complex
Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele... ORPHA:2369
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Shortening of all distal phalanges of the fingers, Broad nasal tip, Atrial septal def... OMIM:614207
Ritscher-Schinzel Syndrome 2
Dandy-Walker malformation, Pulmonary artery hypoplasia, Patent ductus arteriosus, Atrial septal d... OMIM:300963
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal... OMIM:620066
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Mosaic Trisomy 16
Single coronary artery origin, Abnormal lung morphology, Coarctation of aorta, Abnormal heart mor... ORPHA:1708
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Stroke, Arteriosclerosis of small cerebral arteries, Transient ischemic attack, Lacunar stroke, C... OMIM:600142
Genitopalatocardiac Syndrome
Hydrocephalus, Abnormal cardiac septum morphology ORPHA:2075
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia OMIM:617022
Intellectual Developmental Disorder, X-Linked 98
Long nose, Short nose, Anteverted nares, Mandibular prognathia, Underdeveloped nasal alae, Promin... OMIM:300912
Micro Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Short nose ORPHA:2510
Stuve-Wiedemann Syndrome 1
Short nose, Wide nasal base, Low hanging columella, Anteverted nares, Carious teeth, Micrognathia... OMIM:601559
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Pulmonary artery atresia, Colpocephaly, Patent ductus arteriosus, Ventricul... OMIM:620113
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death, Pulmonary hypoplasia OMIM:187600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Histiocytoid cardiomyopathy, Colpocephaly, Overriding aorta, Atrial septal defect,... OMIM:309801
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose, Wide nasal bridge ORPHA:2557
Carpenter Syndrome 1
Transposition of the great arteries, Spina bifida occulta, Pulmonic stenosis, Tetralogy of Fallot... OMIM:201000
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Ventricular septal defect, Pulmonary hypoplasia, Holoprosencephaly OMIM:612530
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Hydrocephalus, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomyopathy, Pe... OMIM:261740
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Degcags Syndrome
Retrognathia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital ... OMIM:619488
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Schneckenbecken Dysplasia
Short nose, Short ribs, Limb undergrowth, Malar flattening, Hypoplastic scapulae OMIM:269250
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Short nose, 11 pairs of ribs, Short fifth metatarsal, Short thir... OMIM:134780
Antley-Bixler Syndrome
Anteverted nares, Hypoplasia of the zygomatic bone, Choanal atresia, Short nose ORPHA:83
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Short nose, Anteverted nares, Malar flattening OMIM:219200
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse OMIM:616914
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Annular pancreas, Short nose, Delayed eruption of teeth, Mandibular prognath... OMIM:268400
Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Abnormality of the temporomandibular joint, Short clavicles, Ascending tubular aorta ... ORPHA:536471
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cardiomegaly, Aortic root aneurysm, Hydrocephalus, Patent foramen ovale, Mitral valve prolapse, L... OMIM:245600
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventriculomegaly, Atrial septal defect, Ventricular septal defect ORPHA:505237
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Carpal bone hypoplasia, Short metacarpal, Short fourth metatarsal, Malar flattening, ... OMIM:616723
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short nose, Proportionate shortening of all digits, Aortic root aneurysm, Anteverted nares, Paten... ORPHA:280633
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Coarctation of aorta, Ventricular septal defect ORPHA:268249
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Short nose, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, De... ORPHA:1812
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Retinal arterial tortuosity, Hydranencephaly, Hydrocephalus, Patent foramen ovale, P... OMIM:620371
Acrocardiofacial Syndrome
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... ORPHA:2008
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Hypopla... OMIM:619503
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Chromosome 16P13.3 Duplication Syndrome
Short nose, Wide nose, Anteverted nares, Micrognathia, Short toe, Short thumb, Tetralogy of Fallo... OMIM:613458
Pfeiffer Syndrome Type 2
Short nose, Short hallux, Choanal atresia, Malar flattening, Short foot, Depressed nasal bridge, ... ORPHA:93259
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... OMIM:600460
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Short nose, Depressed nasal ridge ORPHA:1912
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal... ORPHA:457279
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Charge Syndrome
Right aortic arch, Pulmonary artery atresia, Dysplastic tricuspid valve, Pulmonic stenosis, Secun... OMIM:214800
Cornelia De Lange Syndrome 6
Short nose, Atrioventricular canal defect, Anteverted nares, Pulmonary artery atresia, Short palm... OMIM:620568
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr... OMIM:121050
Marshall Syndrome
Short nose, Absent frontal sinuses, Anteverted nares, Micrognathia, Malar flattening, Macrodontia... OMIM:154780
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele, Pulmonary hypoplasia, Ventriculomegaly, Atrial... OMIM:616546
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Patent ductus arteriosus, Ventriculomegaly, Atrial septa... OMIM:620024
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo... OMIM:115470
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... ORPHA:71493
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Micrognathia, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge OMIM:300749
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Abnormal heart valve morphology, Recurrent pneumonia OMIM:309900
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arte... OMIM:612562
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defec... ORPHA:435638
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short nose, Wide nose, Anteverted nares, Hypoplasia of the maxilla, Micrognathia, Recurrent sinus... OMIM:213980
Holoprosencephaly
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Dandy-Walker malformation, Abn... ORPHA:2162
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Peho Syndrome
Anteverted nares, Recurrent respiratory infections, Malar flattening, Short nose ORPHA:2836
Trisomy 10P
Abnormality of the nose, Retrognathia, Short nose, Anteverted nares, Micrognathia, Abnormal heart... ORPHA:171929
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Anencephaly, Dandy-Walker malformation, Severe hydrocephalus,... OMIM:236680
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Proteus-Like Syndrome
Hydrocephalus, Bronchogenic cyst, Communicating hydrocephalus, Venous insufficiency ORPHA:2969
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Whipple Disease
Myocarditis, Pericarditis, Hydrocephalus, Pleuritis ORPHA:3452
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Pulmonar... ORPHA:96334
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Spina bifida occulta, Patent foramen ovale, Recurrent u... OMIM:180849
Warburg Micro Syndrome 3
Short nose, Micrognathia OMIM:614222
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Colpocephaly OMIM:609053
Mucopolysaccharidosis Type 1
Abnormal aortic valve morphology, Hydrocephalus, Abnormal heart valve morphology, Hypertrophic ca... ORPHA:579
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Mandibular prognathia, Underdeveloped nasal alae, Micrognathia, Hypoplasia of the odo... OMIM:616007
3Q29 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:65286
Tetraamelia Syndrome 1
Single naris, Choanal atresia, Asplenia, Micrognathia, Tetraamelia, Pulmonary hypoplasia, Periphe... OMIM:273395
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Vascular tortuosity, Prominent superficial veins OMIM:612940
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse OMIM:619980
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Complete atrioventricular ... OMIM:617063
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Dandy-Walker malformation, Ventricular septal defect OMIM:616901
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Pontocerebellar Hypoplasia, Type 10
Short nose, Low hanging columella, Bulbous nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:615803
Neurocutaneous Melanocytosis
Ventriculomegaly, Dandy-Walker malformation, Meningocele ORPHA:2481
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Right aortic arch, Abnormal heart morphology OMIM:301111
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent left superior vena cava, Pericardial effusion, Ventricular septal defect, Hypertrophic... OMIM:618775
Schinzel-Giedion Midface Retraction Syndrome
Short nose, Anteverted nares, Hypoplasia of first ribs, Splenopancreatic fusion, Short distal pha... OMIM:269150
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Abnormal heart valve morphology, Cardiomyopathy, Recurrent upper respiratory tract... OMIM:253220
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Vacuolated lymphocytes, Renal artery... ORPHA:565612
Fontaine Progeroid Syndrome
Pneumothorax, Retrognathia, Bicuspid aortic valve, Short nose, Aortic aneurysm, Mandibular progna... OMIM:612289
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose ORPHA:1185
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pneumonia, Patent ductus art... OMIM:300472
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature arteriosclerosis, Premature coronary artery atherosclerosis... ORPHA:391665
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle ORPHA:500055
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Mitral valve prolapse, Patent ductus arteriosus OMIM:104350
Gillespie Syndrome
Ventriculomegaly OMIM:206700
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Atrial septal defect, Patent ductus arteriosus OMIM:618162
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Atrial septal defect, Ventricular septal defect, Depressed nasal br... ORPHA:261236
Cardiofaciocutaneous Syndrome
Atrial septal defect, Short nose, Abnormal heart valve morphology, Anteverted nares, Hypertrophic... ORPHA:1340
Robinow Syndrome, Autosomal Recessive 1
Hypoplasia of the radius, Retrognathia, Hypoplastic sacrum, Mesomelic arm shortening, Short nose,... OMIM:268310
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Ventriculomegaly, Ventricular septal def... OMIM:235255
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta, Pulmonary hypoplasia, Lateral ventricle dilatatio... ORPHA:1692
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri... OMIM:157800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Short nose, Rhizomelia, Anteverted nares, Mandibular prognathia, Mesomelia, Malar flattening, Bul... OMIM:271510
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormal cardiac septum ... ORPHA:2166
Specc1L-Related Hypertelorism Syndrome
Short nose, Advanced eruption of teeth, Short toe, Tetralogy of Fallot, Prominent nasal bridge, P... ORPHA:1519
Coccidioidomycosis
Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Pleural empyema, Increased CSF protein c... ORPHA:228123
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Malar flattening, Depressed nasal bridge OMIM:618590
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly OMIM:619074
Gm1 Gangliosidosis
Cardiomyopathy, Aspiration pneumonia, Abnormal heart morphology, Cherry red spot of the macula, P... ORPHA:354
Recombinant 8 Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... ORPHA:96167
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Ctcf-Related Neurodevelopmental Disorder
Short nose, Recurrent lower respiratory tract infections, Anteverted nares, Prolonged neonatal ja... ORPHA:363611
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Atrial septal defect, Ventricular septal defect, Ventriculomegaly OMIM:616449
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Ventricular hypertrophy, Pulmonic stenosis, Patent ductus arteriosus, Bicus... OMIM:620654
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Aplasia/Hypoplasia of the clavicles, Micrognathia, Short distal phalanx of finger, Co... ORPHA:90154
Microlissencephaly-Micromelia Syndrome
Short nose, 11 pairs of ribs, Micromelia ORPHA:50810
Au-Kline Syndrome
Retrognathia, Short nose, Aortic root aneurysm, Bifid nasal tip, Prominent nasal bridge, Wide nas... OMIM:616580
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Hypoplastic aortic arch ORPHA:457284
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Pulmonic stenosis, Aortic valve stenosis, Coarctatio... ORPHA:353281
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Ventriculomegaly, Atrial septal def... OMIM:117550
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Adams-Oliver Syndrome 1
Encephalocele, Pulmonary artery stenosis, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of ... OMIM:100300
Lymphedema-Distichiasis Syndrome
Chylothorax, Tetralogy of Fallot, Patent ductus arteriosus, Varicose veins, Ventricular septal de... OMIM:153400
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect OMIM:611174
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang... OMIM:235510
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly ORPHA:289483
Geleophysic Dysplasia 1
Short nose, Hepatomegaly, Anteverted nares, Tricuspid stenosis, Aortic valve stenosis, Short palm... OMIM:231050
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Fibular hypoplasia, Aortic root aneurysm, Anteverted nares, Patent foramen ovale, Asp... ORPHA:444077
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Chronic active hepatitis, Cholelithiasis, Asplenia OMIM:240300
Menkes Disease
Abnormal carotid artery morphology, Vascular dilatation, Venous insufficiency, Prolonged neonatal... ORPHA:565
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Fanconi Anemia, Complementation Group W
Ventriculomegaly OMIM:617784
19P13.13 Microdeletion Syndrome
Anteverted nares, Short nose, Malar flattening, Depressed nasal bridge ORPHA:357001
Opitz Gbbb Syndrome
Aortic root aneurysm, Dandy-Walker malformation, Patent foramen ovale, Coarctation of aorta, Abno... ORPHA:2745
Simpson-Golabi-Behmel Syndrome
Short nose, Hepatomegaly, Short 2nd finger, Anteverted nares, Mandibular prognathia, Cardiomyopat... ORPHA:373
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylopericardium, Chyloth... ORPHA:538
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:2519
Pfeiffer Syndrome Type 3
Short nose, Short hallux, Choanal atresia, Short foot, Depressed nasal bridge, Small hand ORPHA:93260
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Short nose, Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous r... OMIM:301044
Hurler Syndrome
Hydrocephalus, Abnormal heart valve morphology, Cardiomyopathy, Recurrent respiratory infections,... ORPHA:93473
Hurler Syndrome
Hydrocephalus, Recurrent respiratory infections, Cardiomyopathy, Endocardial fibroelastosis OMIM:607014
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Nicolaides-Baraitser Syndrome
Short nose, Wide nasal base, Short metatarsal, Narrow nasal bridge, Low hanging columella, Anteve... OMIM:601358
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib... OMIM:620519
Carey-Fineman-Ziter Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:1358
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ventriculomegaly, Gliosis OMIM:618222
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Simpson-Golabi-Behmel Syndrome, Type 1
Short ribs, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Short distal phalanx of finger, Shor... OMIM:312870
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Anomalous origin of right coronary artery from the pulmo... OMIM:616462
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Atrial septal defect OMIM:207410
Zttk Syndrome
Short nose, Hypoplasia of the maxilla, Unilateral lung agenesis, Patent ductus arteriosus, Absent... OMIM:617140
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose ORPHA:2983
Grange Syndrome
Carotid artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis OMIM:602531
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... ORPHA:84
7Q11.23 Microduplication Syndrome
Aortic aneurysm, Hydrocephalus, Aortic valve stenosis, Patent ductus arteriosus, Ventriculomegaly... ORPHA:96121
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa... OMIM:605275
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly OMIM:618052
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Koolen-De Vries Syndrome
Aortic root aneurysm, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Ventric... OMIM:610443
Nablus Mask-Like Facial Syndrome
Retrognathia, Short nose, Short hallux, Anteverted nares, Hypoplasia of the maxilla, Wide nasal b... OMIM:608156
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Spina bifi... ORPHA:52
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Ventriculomegaly ORPHA:228308
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Charge Syndrome
Aqueductal stenosis, Abnormal aortic valve morphology, Interrupted aortic arch, Dandy-Walker malf... ORPHA:138
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Leopard Syndrome 1
Spina bifida occulta, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Subv... OMIM:151100
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... OMIM:618748
Orofaciodigital Syndrome Type 4
Retrognathia, Short nose, Bilateral lung agenesis, Wide nose, Choanal atresia, Depressed nasal ri... ORPHA:2753
Pyruvate Carboxylase Deficiency
Decreased CSF glutamine concentration, Subependymal cysts, Increased CSF glutamate concentration,... ORPHA:3008
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventriculomegaly, Ventricular septal defect OMIM:101200
Sponastrime Dysplasia
Short nose, Rhizomelia, Wide nose, Obtuse angle of mandible, Anteverted nares, Mandibular prognat... ORPHA:93357
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Aplasia/Hypoplasia of the lungs ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Histiocytoid Cardiomyopathy
Pulmonary edema, Hydrocephalus, Stroke-like episode, Cardiomegaly, Ventricular septal defect ORPHA:137675
Adenylosuccinase Deficiency
Anteverted nares, Short nose OMIM:103050
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:208085
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose OMIM:613735
Trisomy 20P
Anteverted nares, Micrognathia, Short nose ORPHA:261318
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Abnormal subclavian artery morphology, Pneumonia, Recurren... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Abnormal subclavian artery morphology, Pneumonia, Recurren... ORPHA:353277
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Short lower limbs, Micrognathia, Arterial stenosis, Patent ductus art... ORPHA:1556
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Pneumonia, Dilated cardiomyopat... ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Pericardial effusion, Micrognathia, Mitral valve ... ORPHA:536532
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype... OMIM:615474
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic dissection, Recurrent pneumonia... ORPHA:1900
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilation of Virchow-R... OMIM:300998
1P31P32 Microdeletion Syndrome
Ventriculomegaly ORPHA:401986
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hydrocephalus, Aspiration pneumonia, Abnormal mitral valve morp... ORPHA:581
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent... OMIM:158170
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Patent foramen oval... ORPHA:209905
Acrocallosal Syndrome
Short nose, Pulmonary valve defects, Mandibular prognathia, Persistence of primary teeth, Hypopla... OMIM:200990
Noonan Syndrome 4
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:610733
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Hydrocephalus, Aplasia/Hypoplasia of the lungs ORPHA:3301
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage ORPHA:447788
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Basel-Vanagaite-Smirin-Yosef Syndrome
Left superior vena cava draining to coronary sinus, Dilated third ventricle, Recurrent pneumonia,... ORPHA:464738
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Azoospermia, Ventriculome... ORPHA:2072
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly OMIM:617903
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Aplasia of the ulna, Fibular aplasia,... ORPHA:2879
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Crouzon Syndrome
Hydrocephalus OMIM:123500
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia, A... OMIM:620025
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Mitral valve prolapse, Aortic aneurysm OMIM:182212
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
H Syndrome
Recurrent pharyngitis, Azoospermia, Hydrocephalus, Bronchiectasis, Varicose veins ORPHA:168569
Achondroplasia
Hydrocephalus ORPHA:15
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Ventricular septal defect, Colpocephaly ORPHA:261250
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Advanced eruption of teeth, Short nose, Anteverted nares, Carious teeth, Sh... OMIM:615873
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:244300
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Aortic aneurysm, Hydrocephalus, Ventriculomegaly, Cardiomyopath... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Aortic aneurysm, Hydrocephalus, Ventriculomegaly, Cardiomyopath... ORPHA:363958
Okamoto Syndrome
Short nose, Abnormal left ventricle morphology, Anteverted nares, Primum atrial septal defect, Un... ORPHA:2729
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Pleural effusion, Abnormal heart... ORPHA:453499
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Tetralogy of Fallot OMIM:174300
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Ayme-Gripp Syndrome
Short nose, Mandibular prognathia, Pericarditis, Malar flattening, Craniofacial asymmetry, Wide n... OMIM:601088
Williams Syndrome
Abnormal carotid artery morphology, Pulmonic stenosis, Mitral valve prolapse, Abnormal cerebral v... ORPHA:904
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Schinzel-Giedion Syndrome
Retrognathia, Annular pancreas, Short nose, Delayed eruption of teeth, Short distal phalanx of fi... ORPHA:798
Dend Syndrome
Short nose, Anteverted nares, Elevated hemoglobin A1c ORPHA:79134
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Pulmonic stenosis, Mitral valve prolapse, Patent ductus arteri... OMIM:602782
Digeorge Syndrome
Right aortic arch with mirror image branching, Atelectasis, Interrupted aortic arch, Truncus arte... OMIM:188400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventriculomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Peters Plus Syndrome
Short columella, Short nose, Rhizomelia, Anteverted nares, Abnormal pulmonary vein morphology, Bi... ORPHA:709
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Bartsocas-Papas Syndrome 1
Short nose, Patent foramen ovale, Short metacarpal, Hypoplasia of the maxilla, Micrognathia, Limb... OMIM:263650
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H... ORPHA:2473
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Pseudoaminopterin Syndrome
Short 4th metacarpal, Patent foramen ovale, Asplenia, Micrognathia, Prominent nasal bridge, Short... ORPHA:221120
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Trisomy 18
Short nose, Choanal atresia, Microretrognathia, Atrial septal defect, Ventricular septal defect ORPHA:3380
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular se... OMIM:154400
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Coarctation of aorta, Ventricular septal defect, Dilated cardiomyopathy OMIM:614921
Distal Deletion 9P
Short nose, Wide nasal bridge ORPHA:1642
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Congenital Syphilis
Myocarditis, Pneumonia, CSF pleocytosis, Hydrocephalus ORPHA:499009
Neurodegeneration And Seizures Due To Copper Transport Defect
Increased CSF lactate, Ventriculomegaly, Decreased CSF copper concentration OMIM:620306
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Short nose, Short ribs, Short metacarpal, Depressed nasal ridge, Micromelia, Short ... OMIM:271665
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventriculomegaly, Right aortic arch, Ventricular septal defect ORPHA:513456
Neu-Laxova Syndrome 1
Stillbirth, Transposition of the great arteries, Hydranencephaly, Dandy-Walker malformation, Pate... OMIM:256520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Spin... ORPHA:508498
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventricular ... OMIM:300373
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Cardiomyopathy, Mitral stenosis, Recurrent upper respiratory ... OMIM:253200
Doors Syndrome
Double outlet right ventricle, Dandy-Walker malformation, Spina bifida occulta, Aspiration pneumonia ORPHA:79500
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
X Small Rings
Aortic root aneurysm, Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect ORPHA:96201
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida, Astrocytoma, Optic nerve glioma OMIM:162200
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Trichothiodystrophy 1, Photosensitive
Retrognathia, Short nose OMIM:601675
Coffin-Siris Syndrome 4
Dandy-Walker malformation, Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent du... OMIM:614609
Atypical Werner Syndrome
Premature arteriosclerosis, Convex nasal ridge, Coronary artery atherosclerosis, Aortic valve cal... ORPHA:79474
Stickler Syndrome
Short nose, Advanced eruption of teeth, Abnormal dental enamel morphology, Anteverted nares, Depr... ORPHA:828
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Peroxisome Biogenesis Disorder 1A (Zellweger)
Subependymal cysts, Ventricular septal defect, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:214100
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Spina bifida, Patent ductus arteriosus, Ventricular sep... ORPHA:2092
Hajdu-Cheney Syndrome
Hydrocephalus, Aortic valve stenosis, Mitral stenosis, Patent ductus arteriosus, Recurrent respir... ORPHA:955
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis, Double aortic arch OMIM:230900
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Short nose, Micrognathia OMIM:617527
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Anteverted nares, Prominent nasal bridge, Trismus, Dental malocclusion, Short foot OMIM:227330
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Plaa-Associated Neurodevelopmental Disorder
Short nose, Micrognathia ORPHA:521426
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis, Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619512
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Anteverted nares, Micrognathia, Prominent nasal bridge, Short foot ORPHA:1974
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Cardiomyopathy ORPHA:157
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial septal defect, Ve... OMIM:615582
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Holoprosencephaly 7
Short nose, Midline defect of the nose, Hypoplastic nasal septum, Depressed nasal tip, Flat nasal... OMIM:610828
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Co... OMIM:270400
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly, Coarctation of aorta, Abnormal cardiac septum morphology ORPHA:2322
Deeah Syndrome
Retrognathia, Short nose, Hepatomegaly, Prominent nasal tip, Decreased hemoglobin concentration, ... OMIM:619004
Aymé-Gripp Syndrome
Hydrocephalus, Pericardial effusion, Pericarditis, Patent ductus arteriosus, Ventriculomegaly ORPHA:1272
Acromesomelic Dysplasia 1
Hypoplasia of the radius, Short nose, Short metatarsal, Short metacarpal, Short toe, Acromesomelia OMIM:602875
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Esophageal Atresia
Bronchitis, Coarctation of aorta, Tetralogy of Fallot, Pulmonary hypoplasia, Recurrent respirator... ORPHA:1199
Autosomal Dominant Robinow Syndrome
Supernumerary tooth, Retrognathia, Short nose, Wide nose, Anteverted nares, Micromelia, Short pal... ORPHA:3107
Cerebellar-Facial-Dental Syndrome
Ventriculomegaly, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, Supernumerary tooth, Retrognathia, Short nose, Underdeveloped nasal alae, Aortic v... ORPHA:268261
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Short nose, Emphysema, Transient ischemic attack, Hypoplasia of the maxilla, Abn... ORPHA:500150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Stroke, Abnormal heart morphology, Dilated cardiomyopathy, Subdural hemorrhage ORPHA:79282
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Aortic aneurysm, Truncus arteriosus, Atrial septal defect, Vent... ORPHA:261330
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Muscular ventricular septal defect, Hydrocephalus, Patent foramen ovale, Coarctation ... OMIM:210710
Syndromic Diarrhea
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicuspid aortic valve, ... ORPHA:84064
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anteverted nares, Short nose, Anemia, Depressed nasal bridge ORPHA:2719
Costello Syndrome
Pneumothorax, Lymphangiectasis, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mi... OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu... OMIM:236670
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Short nose, Rhizomelia, Delayed eruption of teeth, Anteverted nares, Short middle p... OMIM:180700
Warburg Micro Syndrome 2
Short nose, Prominent nasal bridge OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic aneurysm, Aortic root aneurysm, Hydrocephalus, Arterial d... ORPHA:666
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Fraser Syndrome 3
Abnormal lung lobation, Stillbirth, Hydrocephalus OMIM:617667
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Retrognathia, Short nose, Short metatarsal, Anteverted nares, Short metacarpal, Broad nasal tip, ... OMIM:617157
Mgat2-Cdg
Recurrent upper and lower respiratory tract infections, Abnormal heart morphology, Ventricular se... ORPHA:79329
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage, Neoplasm of the lung ORPHA:616
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Recurrent respiratory infections, Ventricular septal de... OMIM:243150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Long nose, Short nose, Anteverted nares, Bulbous nose, Carious teeth, Broad nasal t... OMIM:619522
Cerebellofaciodental Syndrome
Ventriculomegaly, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Microphthalmia/Coloboma 12
Ventriculomegaly OMIM:120200
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Tricuspid valve prolapse, Ventricular septal defect, Patent ductus arteriosus ORPHA:261337
Frontofacionasal Dysplasia
Short nose, Midline defect of the nose, Hypoplasia of the frontal bone, Bifid nose, Malar flatten... OMIM:229400
Full Nf2-Related Schwannomatosis
Hydrocephalus, Ependymoma, Glioma, Astrocytoma, Myelopathy ORPHA:637
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric... OMIM:610759
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal lung lobation, Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy,... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect OMIM:620454
Orofaciodigital Syndrome I
Hydrocephalus, Abnormal heart morphology, Vascular dilatation, Myelomeningocele OMIM:311200
Gaucher Disease
Abnormal pulmonary interstitial morphology, Hydrocephalus, Abnormal heart valve morphology, Mitra... ORPHA:355
Spondylocarpotarsal Synostosis Syndrome
Short nose, Anteverted nares, Short metacarpal, Enamel hypoplasia, Hypoplasia of the odontoid pro... OMIM:272460
Opitz-Kaveggia Syndrome
Hydrocephalus, Abnormal heart morphology OMIM:305450
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Myxomatous mitral valve degeneration, Atrial septal defect, Short ... OMIM:194050
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Abnormal heart morphology, Patent ductus arteriosus OMIM:227646
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
White-Kernohan Syndrome
Retrognathia, Short nose, Anteverted nares, Underdeveloped nasal alae, Depressed nasal bridge OMIM:619426
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Short nose, Malar flattening, Depressed nasal bridge OMIM:601353
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pneumothorax, Short nose, Tricuspid valve prolapse, Mitral valve prolapse, Microretrognathia, Atr... OMIM:601776
Monosomy 9P
Short nose, Anteverted nares, Choanal atresia, Micrognathia, Malar flattening, Depressed nasal br... ORPHA:261112
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Combined Oxidative Phosphorylation Deficiency 15
Increased CSF lactate, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Hajdu-Cheney Syndrome
Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus OMIM:102500
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Cerebrofaciothoracic Dysplasia
Short nose, Wide nose ORPHA:1394
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Depressed nasal bridg... OMIM:305100
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Right aortic arch, Coarctation of aorta, Tetralogy of Fal... OMIM:164210
Mend Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Abnormal heart morphology, Hydrocephalus ORPHA:401973
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus, Spina bifida OMIM:109400
Vascular Ehlers-Danlos Syndrome
Pneumothorax, Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Narrow nasal bridg... ORPHA:286
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short nose, Jaundice, Aortic aneurysm, Anteverted nares, Depressed nasal tip, Dilatation of the c... OMIM:619475
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Patent ductus arteriosus OMIM:277600
Monosomy 9Q22.3
Cardiac fibroma, Short nose, Delayed eruption of teeth ORPHA:77301
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Arteriosclerosis ORPHA:220295
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Abnormal aortic valve morphology, Mitral valve prolapse, Communicating hydrocep... ORPHA:2462
Aspartylglucosaminuria
Short nose, Hepatomegaly, Mandibular prognathia, Carious teeth, Splenomegaly, Recurrent respirato... ORPHA:93
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Recurrent respiratory infections, Hydrocephalus, Abnormal pulmonary va... ORPHA:667
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Communicating hydrocephalus OMIM:616084
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Vascular dilatation, Spina bifida occulta OMIM:607323
Diamond-Blackfan Anemia 10
Ventricular septal defect, Patent ductus arteriosus OMIM:613309
Achondroplasia
Hydrocephalus, Pulmonary hypoplasia OMIM:100800
Witteveen-Kolk Syndrome
Short nose, Wide nose, Anteverted nares, Underdeveloped nasal alae, Flared nostrils, Short palm, ... OMIM:613406
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Short nose, Atrial septal defect, Prominent nasal tip ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Ventricular septal defect OMIM:619306
Codas Syndrome
Ventriculomegaly, Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Pallister-Hall Syndrome
Abnormal lung lobation, Short 4th metacarpal, Short nose, Atrioventricular canal defect, Antevert... ORPHA:672
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Lateral ventricle dilatation OMIM:263520
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Kabuki Syndrome 1
Hydrocephalus, Coarctation of aorta, Recurrent aspiration pneumonia, Lateral ventricle dilatation... OMIM:147920
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Short nose, Short metacarpal, Choanal atresia, Shortening of all distal phalanges of the fingers,... ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Short nose, Recurrent bronchitis, Mandibular prognathia, Prominent nasal tip, Recurrent pneumonia... OMIM:620330
Sturge-Weber Syndrome
Hydrocephalus, Stroke, Abnormal cerebral vascular morphology ORPHA:3205
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Holoprosencephaly 9
Agenesis of incisor, Short nose, Single naris, Choanal atresia, Hypoplasia of the maxilla, Broad ... OMIM:610829
Peroxisome Biogenesis Disorder 4B
Short nose, Hepatomegaly OMIM:614863
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept... OMIM:619268
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Ventricular septal defect ORPHA:1393
Wiedemann-Steiner Syndrome
Short nose, Aplasia/Hypoplasia of the ribs, Rhizomelia, Wide nasal bridge ORPHA:319182
Toriello-Lacassie-Droste Syndrome
Short palm, Short nose, Anteverted nares ORPHA:3339
Menke-Hennekam Syndrome 1
Short nose, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Depressed nasal rid... OMIM:618332
Holoprosencephaly 3
Ventriculomegaly, Holoprosencephaly OMIM:142945
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Micrognathia, Broad nasal tip, Bulbous nose, Short foot, Depressed nasal bridge, Smal... OMIM:309590
Coffin-Lowry Syndrome
Short nose, Wide nose, Anteverted nares, Mandibular prognathia, Thick nasal alae, Short metacarpa... OMIM:303600
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Alagille Syndrome 1
Stroke, Renal artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect, V... OMIM:118450
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Gorlin Syndrome
Cardiac fibroma, Hydrocephalus ORPHA:377
Weill-Marchesani Syndrome 2
Pulmonic stenosis, Aortic valve stenosis, Ascending aortic dissection, Patent ductus arteriosus, ... OMIM:608328
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Yunis-Varon Syndrome
Hydrocephalus, Cardiomyopathy, Renal artery stenosis, Tetralogy of Fallot, Cardiomegaly, Atrial s... ORPHA:3472
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Spina bifida, Coarctation of aorta, Tetralogy of Fallot, Patent du... OMIM:274000
Phosphoribosylpyrophosphate Synthetase Superactivity
Convex nasal ridge, Short nose, Depressed nasal bridge OMIM:300661
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge, Pleural effusion, Spontaneous pneumothorax, Recurrent pancreatiti... OMIM:606721
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Pulmonary hypoplasia, Holoprosencephaly, P... ORPHA:818
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal hea... ORPHA:363700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:464311
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Spina bifida occulta, Patent ductus arteriosus OMIM:257920
Stromme Syndrome
Hydrocephalus OMIM:243605
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Spina bifida occulta, Aortic aneurysm OMIM:150250
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Convex nasal ridge, Bicuspid aortic valve, Delayed eruption of teeth, Abnormal pulmonary valve mo... ORPHA:261552
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Delayed eruption of teeth, Abnormal pulmonary valve morphology, Low hangin... ORPHA:261537
Cornelia De Lange Syndrome
Short nose, Delayed eruption of teeth, Anteverted nares, Choanal atresia, Micromelia, Micrognathi... ORPHA:199
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aortic aneurysm, Subependymal nodules, Respiratory tract infection, Noncommu... ORPHA:805
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Campomelic Dysplasia
Recurrent lower respiratory tract infections, Hydrocephalus, Spina bifida, Abnormal heart morphol... OMIM:114290
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Hydrocephalus, Hypertrophic cardiomyopathy, Mitral valve prolapse, Dila... ORPHA:2556
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:222470
Mowat-Wilson Syndrome
Delayed eruption of teeth, Low hanging columella, Mandibular prognathia, Prominent nasal tip, Asp... ORPHA:2152
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Ventriculomegaly, Ventricular septal defect OMIM:619418
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Patent ductus arteriosus OMIM:106260
Mend Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:464306
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Patent ductus a... OMIM:135500
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Fryns Syndrome
Stillbirth, Chylothorax, Dandy-Walker malformation, Pulmonary hypoplasia, Atrial septal defect, V... OMIM:229850
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Keutel Syndrome
Emphysema, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular sept... OMIM:245150
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Fraser Syndrome 1
Encephalocele, Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Pulmonary hypoplasia OMIM:219000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Spina bifida, Tetralogy of Fallot, ... OMIM:192350
Cryptococcosis
Nodular pattern on pulmonary HRCT, Pneumonia, Pleural effusion, Hydrocephalus ORPHA:1546
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:616975
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose OMIM:252160
Penile Agenesis
Short nose, Bilateral lung agenesis, Pulmonary hypoplasia, Atrial septal defect, Ventricular sept... ORPHA:49
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia ORPHA:93924
Myhre Syndrome
Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Patent ductus arteriosus, Atri... OMIM:139210
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Recurrent respiratory infections, Patent ductus arteriosus, Atrial... ORPHA:3047
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose veins,... ORPHA:500095
Pallister-Killian Syndrome
Aortic valve stenosis, Rhizomelia, Anteverted nares, Short palm, Patent ductus arteriosus, Depres... OMIM:601803
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Hardikar Syndrome
Patent ductus arteriosus, Patent foramen ovale, Pulmonary artery stenosis, Coarctation of aorta, ... OMIM:301068
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... ORPHA:276280
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Micrognathia, Short nose OMIM:618820
Diamond-Blackfan Anemia
Coarctation of aorta, Abnormal heart morphology, Atrial septal defect, Ventricular septal defect,... ORPHA:124
Craniopharyngioma
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Eisenmenger Syndrome
Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Abnormal he... ORPHA:97214
Diamond-Blackfan Anemia 1
Spina bifida occulta, Tricuspid stenosis, Coarctation of aorta, Atrial septal defect, Ventricular... OMIM:105650
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:96191
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
1P36 Deletion Syndrome
Abnormal heart valve morphology, Aortic arch aneurysm, Tetralogy of Fallot, Patent ductus arterio... ORPHA:1606
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
C Syndrome
Short nose, Anteverted nares, Micromelia, Micrognathia, Depressed nasal bridge ORPHA:1308
Townes-Brocks Syndrome 1
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly, Atrial septal defect, Ventricular septal d... OMIM:107480
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus, Spina bifida, Dilatation of the sinus of Valsalva, Atrial septal defect OMIM:304120
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent ductus arteriosus, Patent foramen ovale, Ebstein anoma... ORPHA:466791
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation, Prominent scalp veins, Secundum atrial septal defect, P... OMIM:264090
Noonan Syndrome 1
Chylothorax, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Patent ductus ... OMIM:163950
Microphthalmia, Syndromic 3
Ventricular septal defect, Patent ductus arteriosus OMIM:206900
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:194190
Orofaciodigital Syndrome Type 14
Dandy-Walker malformation, Dilated third ventricle, Dilated fourth ventricle, Patent ductus arter... ORPHA:434179
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Holoprosencephaly OMIM:613884
Mowat-Wilson Syndrome
Pulmonary artery stenosis, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus... OMIM:235730
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Anomalous origin of left subclavian artery, Aspiration pneumonia, Pulmonic ... ORPHA:438213
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Short nose, Hepatic steatosis, Leukocytosis OMIM:619321
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve ORPHA:1724
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Dandy-Walker malformation, Holoprosencephaly, Patent ductus arteriosus, ... OMIM:615948
Combined Immunodeficiency-Enteropathy Spectrum
Congenital pulmonary airway malformation, Ventricular septal defect ORPHA:436252
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilatation of the ven... ORPHA:459070
Microphthalmia With Limb Anomalies
Hydrocephalus, Venous insufficiency ORPHA:1106
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Pulmonary hypoplasia OMIM:208150
Proboscis Lateralis
Ventriculomegaly, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus ORPHA:141099
Peters-Plus Syndrome
Hydrocephalus, Pulmonic stenosis, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defec... OMIM:261540
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Cockayne Syndrome A
Persistent left superior vena cava, Ventriculomegaly, Normal pressure hydrocephalus OMIM:216400
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent foramen ovale, Communicating hydrocephalus, Mild fetal ventriculomegaly, Patent ductus art... OMIM:619841
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Bicuspid aort... ORPHA:99413
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Bicuspid aort... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Bicuspid aort... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Bicuspid aort... ORPHA:881
Neurofibromatosis Type 1
Hydrocephalus, Astrocytoma, Optic nerve glioma ORPHA:636
Coffin-Siris Syndrome 12
Patent foramen ovale, Tetralogy of Fallot, Noncommunicating hydrocephalus OMIM:619325
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
Roberts-Sc Phocomelia Syndrome
Stillbirth, Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Atrial septal defect,... OMIM:268300
Meningioma
Hydrocephalus, Cerebral hemorrhage ORPHA:2495
Hyperoxaluria, Primary, Type I
Peripheral arterial stenosis OMIM:259900
Cerebrocostomandibular Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:117650
Baller-Gerold Syndrome
Hydrocephalus, Abnormal heart morphology, Spina bifida occulta OMIM:218600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Liver Disease, Severe Congenital
Left atrial enlargement, Pulmonary edema, Pneumonia, Patent foramen ovale, Dilatation of the vent... OMIM:619991
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dysplastic pulmonary valve, Prominent scalp veins, Pulmonic stenosis, Congenital m... ORPHA:3455
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida ORPHA:322
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Colpocephaly OMIM:606170
Focal Dermal Hypoplasia
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Sotos Syndrome
Small cell lung carcinoma, Aortic aneurysm, Abnormal heart morphology, Pulmonary bleb, Patent duc... ORPHA:821
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Dilation of Virchow-Robin spaces, Hydrocephalus, Cerebral hemorrhage, Retinal ar... OMIM:175780

Histopathology

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

There is no histopathology data for Dnai1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnai1.

No publications found that use IMPC mice or data for Dnai1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Dnai1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dnai1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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