Gene Summary

Name:
DEAH (Asp-Glu-Ala-His) box polypeptide 35
Synonyms:
1200009D07Rik,  Ddx35

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Dhx35tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Legacy Phenotype Associated Images

View all 120 images

Human diseases caused by Dhx35 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dhx35 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... ORPHA:2516
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Short nose, Prominent n... ORPHA:401935
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Microc... OMIM:601355
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Pa... OMIM:618164
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hemivertebrae, Double outlet right ventricle, ... OMIM:220210
Holoprosencephaly 5
Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diab... OMIM:609637
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Kypho... OMIM:609029
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Truncus arteriosus, Stillbirth OMIM:274210
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Depressed nasal bridge, Double... ORPHA:3426
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Ventricular septal defect, Depressed nasal bridge, Double outlet right ven... OMIM:618316
Microform Holoprosencephaly
Maternal diabetes, Midnasal stenosis, Holoprosencephaly, Short nose, Cyclopia, Iris coloboma, Tet... ORPHA:280200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Short nose, Pulmonic stenosis, Transposition of the gre... OMIM:617877
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Sparse hair, Hypogonadotropic hypogonadism, Alopecia, Absent eyebrow, ... OMIM:147770
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Megalencephaly, Thick corpus callosum, Kyphosis, Pachyg... OMIM:603387
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching, Microcephaly OMIM:107500
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Patent ductus a... OMIM:179613
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect, Holoprosencephaly, Absent septum pellucidum, Coloboma, Sc... OMIM:601357
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Retinal coloboma, Abnormality of the optic disc, Iris ... ORPHA:508498
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Convex nasal ridge, Laterally extended eyebrow, Perimembranous ventricular... OMIM:618804
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, W... ORPHA:1908
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Omphalocele, Tri... OMIM:264480
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Goiter, Situs inversus totalis, Chronic rhinitis, Right aortic arch, Hypothyroidism OMIM:617577
Distal Monosomy 13Q
Optic atrophy, Anencephaly, Holoprosencephaly, Abnormal form of the vertebral bodies, Primary adr... ORPHA:1590
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Agenesis of corpus callosum, Kyphoscoliosis, Paten... ORPHA:96170
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Truncus arteriosus, Highly arched eyebrow OMIM:611867
Scimitar Syndrome
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Patent... ORPHA:185
Microphthalmia, Syndromic 9
Pulmonary artery atresia, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus,... OMIM:601186
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Vertebral fusion, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:618845
Holoprosencephaly
Omphalocele, Abnormal form of the vertebral bodies, Iris coloboma, Aplasia/Hypoplasia involving t... ORPHA:2162
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Hemivertebrae, Abnormal vertebral morphology, Holoprosencephaly, Paten... ORPHA:77298
10Q22.3Q23.3 Microdeletion Syndrome
Depressed nasal bridge, Atrioventricular canal defect, Breast aplasia, Tricuspid valve prolapse, ... ORPHA:276413
Ring Chromosome 21 Syndrome
Diabetes insipidus, Holoprosencephaly, Abnormal heart morphology, Thoracic hemivertebrae, Fused t... ORPHA:1445
Stankiewicz-Isidor Syndrome
Prominent nose, Ventricular septal defect, Pineal cyst, Truncus arteriosus, Abnormality of the op... OMIM:617516
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Holoprosencephaly, Platyspondyly, Patent ductus arteriosus, Kyphosis, Atr... ORPHA:93274
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Partial agenesis of the corpus callosum, Ventricular septal defect, Trun... OMIM:617478
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Posterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short nose... ORPHA:268261
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Long nose, Abnormal heart morphology, Perimembranous ventricular sept... ORPHA:363444
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Butterfly vertebrae, Aplasia of the nose, Septo-optic dysplasia, Colpo... OMIM:301043
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Persistent left superior vena cava, Double outlet right ventricle, Wide na... ORPHA:3304
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly, Periventricular leukom... OMIM:619170
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Wide nasal ... ORPHA:2008
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Omphalocele, Mitral valve prolapse, Hirsutism, ... ORPHA:371428
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Maternal dia... ORPHA:860
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Asplenia, Situs inversus totalis, Stillbirth, Pu... OMIM:615415
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Trans... OMIM:253800
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Optic disc pallor, Ventricular hypertrophy, Short nose, Wide intermamillar... OMIM:300887
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Holoprosencephaly, Anteverted nares, Cryptorchidism, Vertebral segmentati... OMIM:612530
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Velocardiofacial Syndrome
Interrupted aortic arch, Pulmonary artery atresia, Ventricular septal defect, Underdeveloped nasa... OMIM:192430
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Wide nose, Cleft ala nasi, Sparse pubic ... ORPHA:3044
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Ventricular septal defect, Vascular ring, Depressed nasal bridge, Broad nasal tip, P... OMIM:601927
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Wide nasal bridge, Vascular dilatation, Cerebral atrophy, Ant... OMIM:616430
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Optic atrophy, Hypoplastic nipples, Sparse hair, Hemiverteb... OMIM:308300
Distal Monosomy 7Q36
Optic atrophy, Holoprosencephaly, Short neck, Wide intermamillary distance, Bulbous nose, Cryptor... ORPHA:1636
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Pallister-Hall Syndrome
Ventricular septal defect, Depressed nasal bridge, Hemivertebrae, Hypothalamic hamartoma, Holopro... OMIM:146510
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Abnormality of the hairline, Double outlet right ventricle, Wide nasal bridge, Pa... OMIM:614886
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Hypertrichosis, Wide nose, Fused cervical vertebrae, Muscular ventricular se... OMIM:619227
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Pancreatic hypoplasia, Um... OMIM:600001
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Holoprosencephaly, Situs inversus totalis, Aplasia/Hypoplasia ... ORPHA:990
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Short nose, Transposition of the great arterie... ORPHA:1913
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Wide nose, Transpositi... ORPHA:1727
Benign Schwannoma
Abnormality of the breast, Abnormal cranial nerve morphology, Vestibular Schwannoma, Abnormal par... ORPHA:252164
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Depressed nasal bridge, Hemivertebrae, Kyphoscoliosis, Short nose, Per... OMIM:301040
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Hypogonadotropic hypogonadism, Total anosm... ORPHA:2326
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge, Chorioretinal coloboma,... ORPHA:284169
Triploidy
Meningocele, Omphalocele, Holoprosencephaly, Iris coloboma, Aplasia/Hypoplasia of the corpus call... ORPHA:3376
3C Syndrome
Aplasia/Hypoplasia of the nipples, Short nose, Iris coloboma, Adrenal hypoplasia, Hydrocephalus, ... ORPHA:7
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Microcephaly, Aplasia/Hypopl... ORPHA:2570
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia of the nose, Holoprosencephaly, Iris coloboma, Absent gallbladder, Tetralogy... ORPHA:3186
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Hypoplasia of the thymus, Patent ductus arteriosus, Splenome... ORPHA:567
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Holoprosencephaly, Short nose, Atrial septal d... ORPHA:261236
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Highly arched eyebrow, Truncus arteriosus, ... ORPHA:261330
Alg12-Cdg
Inverted nipples, Biventricular hypertrophy, Decreased serum insulin-like growth factor 1, Chroni... ORPHA:79324
Monosomy 18P
Holoprosencephaly, Kyphoscoliosis, Alopecia, Wide nasal bridge, Wide intermamillary distance, Hyp... ORPHA:1598
Halperin-Birk Syndrome
Optic atrophy, Umbilical hernia, Colpocephaly, Perimembranous ventricular septal defect, Long eye... OMIM:618651
Phaver Syndrome
Ventricular septal defect, Butterfly vertebrae, Depressed nasal bridge, Myelomeningocele, Abnorma... ORPHA:2876
Barber-Say Syndrome
Hypoplastic nipples, Breast aplasia, Wide nasal bridge, Bulbous nose, Generalized hirsutism, Spar... ORPHA:1231
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Broad nasal tip, Depressed nasal bridge, Hemivertebrae, Low anterior hairline... OMIM:618223
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Ventricular septal defect, Depressed nasal bridge, Sparse lateral eyebrow,... ORPHA:261120
Ulnar-Mammary Syndrome
Ventricular septal defect, Hypoplastic nipples, Breast aplasia, Cryptorchidism, Absent axillary h... ORPHA:3138
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Short nose, Wide nasal bridge, Abnormal cardiac septum morpholog... OMIM:615583
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Charge Syndrome
Omphalocele, Arrhinencephaly, Dysplastic tricuspid valve, Retinal coloboma, Patent ductus arterio... OMIM:214800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short neck, Short nose, Abnormal vertebral morphology ORPHA:2015
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Holoprosencephaly, Decreased response to growth hormone stimulation test, Cycl... OMIM:147250
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Absence of secondary sex characteristics, Increased circulating go... ORPHA:755
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Lobar holoprosencephaly, Hemivertebrae, Short nose, Wide nasal bridge, Ver... OMIM:614701
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Abnormal sacrum morphology, Transposition ... ORPHA:1926
17Q21.31 Microduplication Syndrome
Short nose, Thick eyebrow, Generalized hirsutism, Anteverted nares, Delayed puberty, Microcephaly... ORPHA:217340
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cardiac septum morphology ORPHA:2370
Acalvaria
Holoprosencephaly, Omphalocele, Spina bifida, Hydrocephalus ORPHA:945
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Primary Ciliary Dyskinesia
Asplenia, Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, ... ORPHA:244
Scalp-Ear-Nipple Syndrome
Fine hair, Depressed nasal bridge, Abnormal hair morphology, Aplasia/Hypoplasia of the nipples, S... OMIM:181270
Digeorge Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Umbilical hernia, Parathy... OMIM:188400
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge, Hypoplasia of the corpus callosum, Scoliosis, Inguinal hernia, M... OMIM:618379
Holoprosencephaly 2
Aplasia of the nose, Diabetes insipidus, Holoprosencephaly, Single ventricle, Proboscis, Anterior... OMIM:157170
Holoprosencephaly 11
Holoprosencephaly, Thick eyebrow, Polysplenia, Agenesis of corpus callosum, Microcephaly, Synophrys OMIM:614226
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Cranial nerve compression, Fused cervical vertebrae, Abnormality... ORPHA:268882
Alg3-Cdg
Inverted nipples, Coarctation of the descending aortic arch, Neural tube defect, Cerebral white m... ORPHA:79321
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Patent ductus arteriosus, Bulbous nose, Polymicrogyria, Anteverted nares, Umbilical h... OMIM:618454
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Jacobsen Syndrome
Optic atrophy, Ventricular septal defect, Depressed nasal bridge, Chorioretinal coloboma, Annular... OMIM:147791
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Butterfly vertebrae, Agenesis of corpus callosum, Hirsutism, Double ou... OMIM:301056
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly OMIM:306990
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Charge Syndrome
Patent ductus arteriosus, Iris coloboma, Anterior hypopituitarism, Choanal atresia, Anosmia, Inte... ORPHA:138
Monosomy 18Q
Patent ductus arteriosus, Bulbous nose, Hydrocephalus, Aortic valve stenosis, Left aortic arch wi... ORPHA:1600
Holoprosencephaly, Recurrent Infections, And Monocytosis
Inverted nipples, Holoprosencephaly, Cryptorchidism, Agenesis of corpus callosum, Microcephaly OMIM:610680
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Absent gallbladder, Polym... OMIM:156810
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Short nose, Cervical vertebral dysplasia,... ORPHA:79345
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Dry hair, Low anterior hairline, Wide nasal bridge, Hypothyroidism, M... OMIM:618569
Lambotte Syndrome
Ventricular septal defect, Convex nasal ridge, Semilobar holoprosencephaly, Microcephaly OMIM:245552
Even-Plus Syndrome
Depressed nasal ridge, Highly arched eyebrow, Dysplastic corpus callosum, Coronal cleft vertebrae... OMIM:616854
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Highly arched eyebrow, Chorioretinal coloboma, Short nose, Wide nasal brid... OMIM:243310
Short-Rib Thoracic Dysplasia 12
Omphalocele, Ventricular septal defect, Hypoplastic nipples, Anencephaly, Holoprosencephaly, Neon... OMIM:269860
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Short nos... ORPHA:251071
Fryns Syndrome
Omphalocele, Abnormal aortic arch morphology, Abnormal aortic morphology, Aganglionic megacolon, ... ORPHA:2059
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Slow-growing hair, An... ORPHA:238468
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Abnormal coronary artery morphology, Coarctation o... ORPHA:980
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Short columella, Short nose, Patent ductus arteriosus, Abnormality of the... ORPHA:171839
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Low hanging colu... ORPHA:163956
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Short nose, Iris coloboma, Wide a... ORPHA:2143
Non-Distal Trisomy 10Q
Convex nasal ridge, Depressed nasal bridge, Short nose, Cryptorchidism, Scoliosis, Microcephaly ORPHA:1695
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Depressed nasal bridge, Wide nasal bridge, Wi... OMIM:616920
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... ORPHA:99095
Hadziselimovic Syndrome
Ventricular septal defect, Low anterior hairline, Ventricular hypertrophy, Prominent nasal bridge... OMIM:612946
Trisomy 18
Omphalocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Short nose, Cyclopia, Iri... ORPHA:3380
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Anterior pituitary hypoplasia, Abnormality of secondary sexual hair, De... ORPHA:95494
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Ventricular septal defect, Depressed nasal bridge, Wide nose, Short nose, Patent d... OMIM:613457
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Depressed nasal bridge, Beaking of vertebra... OMIM:618961
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Convex nasal ridge, Prominent nasal bridge, Overriding aorta, Ar... ORPHA:1110
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Thyroid hypoplasia, Mitral atresia, Short nose, Subvalvular aortic stenosis, Hepatospl... OMIM:619503
Bullous Lichen Planus
Breast aplasia ORPHA:33408
Phace Syndrome
Ectopic thyroid, Lens coloboma, Abnormal heart morphology, Aortic root aneurysm, Coarctation of a... ORPHA:42775
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Optic atrophy, Bilateral cryptorchidism, Hypothyroidism, Bilateral basal ... ORPHA:66634
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonary artery... OMIM:208530
Agnathia-Otocephaly Complex
Holoprosencephaly, Situs inversus totalis, Agenesis of corpus callosum OMIM:202650
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Coarctation of aorta, ... ORPHA:280195
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Pierpont Syndrome
Broad nasal tip, Hypoplastic areola, Wide nose, Short nose, Wide intermamillary distance, Cryptor... OMIM:602342
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Colpocephaly, Short nose... OMIM:618619
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Conotruncal defect, Agenesis of corpus callosum, Coarctation of aorta, Sho... ORPHA:96147
Steinfeld Syndrome
Abnormality of the vertebral column, Aplasia of the nose, Retinal coloboma, Abnormal vertebral mo... OMIM:184705
Burn-Mckeown Syndrome
Bilateral choanal atresia, Short nose, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... ORPHA:1200
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet rig... OMIM:306955
Gapo Syndrome
Optic atrophy, Sparse eyelashes, Depressed nasal bridge, Hypoplastic nipples, Sparse hair, Alopec... OMIM:230740
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... OMIM:619371
Proteus Syndrome
Spinal canal stenosis, Depressed nasal bridge, Kyphoscoliosis, Lymphangioma, Splenomegaly, Venous... OMIM:176920
Moebius Syndrome
Breast aplasia, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Facial palsy ORPHA:570
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormality of the anterior pituitary, Posteri... ORPHA:75389
Congenital Disorder Of Glycosylation, Type Il
Inverted nipples, Depressed nasal bridge, Pericardial effusion, Short nose, Kyphosis, Wide interm... OMIM:608776
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Breast aplasia OMIM:612242
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macroorchidism OMIM:300706
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Prominent nose, Depressed nasal bridge, Hypertrichosis, Wide nasal br... OMIM:300968
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Lo... OMIM:218000
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Mungan Syndrome
Perimembranous ventricular septal defect, Abnormality of the autonomic nervous system, Pulmonic s... OMIM:611376
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Highly arched eyebrow, Narrow nose, Aplasia/Hypoplasia of ... ORPHA:261311
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma OMIM:107550
Femoral-Facial Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Maternal diabetes, Truncus arteriosus, Hemi... OMIM:134780
Pallister-Hall Syndrome
Abnormal prolactin level, Arrhinencephaly, Thyroid hypoplasia, Short nose, Recurrent upper and lo... ORPHA:672
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Patent duct... ORPHA:95430
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Abnormal intervertebral disk morphology, Short nose, Sparse scalp ha... ORPHA:2701
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Cryptorchidism, Decreased testicular size, Agenesis of corpus callosum OMIM:615433
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of the vertebral column, Tetralogy of Fallot, Agenesis of corpus callosum, Abnormal v... OMIM:250620
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Long eyelashes, Wide nasal bridge, Hydrocephalus, Anteverted nares, Cryptorchidism, H... OMIM:618577
Peho-Like Syndrome
Optic atrophy, Short nose, Pachygyria, Progressive microcephaly, Hypoplasia of the corpus callosu... OMIM:617507
Warburg Micro Syndrome 3
Optic atrophy, Hypertrichosis, Low anterior hairline, Kyphoscoliosis, Short nose, Wide intermamil... OMIM:614222
Smith-Lemli-Opitz Syndrome
Gastroschisis, Abnormal form of the vertebral bodies, Patent ductus arteriosus, Iris coloboma, Ap... ORPHA:818
8P23.1 Duplication Syndrome
Highly arched eyebrow, Ventricular septal defect, Adrenal insufficiency, Wide nose, Pulmonic sten... ORPHA:251076
Adenylosuccinate Lyase Deficiency
Anteverted nares, Hypointensity of cerebral white matter on MRI, Short nose, Microcephaly ORPHA:46
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Short nose, Prominent nasal bridge, Patent duct... OMIM:613870
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Thyroid hypoplasia, Holoprosencephaly, Abnormality of the hypothalamus-pituitary axi... ORPHA:2166
Miller-Dieker Syndrome
Omphalocele, Short nose, Lissencephaly, Sacral dimple, Anteverted nares, Hypoplasia of the corpus... ORPHA:531
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short columella, Vertebral cl... OMIM:155050
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... OMIM:270100
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Ventricular septal defect, Broad nasal tip, Mitral valv... OMIM:249420
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology ORPHA:90153
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Highly arched eyebrow, Kyphoscoliosis, Short nose, Long eyelashes, Wid... OMIM:615803
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ventricular septal defect, Right ventricular hypertrophy, Wide nose, Short nose, P... OMIM:614261
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Holoprosencephaly 7
Omphalocele, Short nose, Iris coloboma, Flat nasal alae, Depressed nasal tip, Panhypopituitarism,... OMIM:610828
Jaberi-Elahi Syndrome
Optic atrophy, Sparse eyelashes, Depressed nasal bridge, Short nose, Sparse eyebrow, Kyphosis, Sc... OMIM:617988
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
49,Xxxxy Syndrome
Depressed nasal ridge, Arrhinencephaly, Gynecomastia, Depressed nasal bridge, Type II diabetes me... ORPHA:96264
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Kyphosis, Thick eyebrow, Microcephaly, Synophrys OMIM:617061
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid atresia, Tricuspid stenosis, Abnormal heart morphology, Multip... ORPHA:391641
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Abnormal aortic morphology, Holoprosencephaly, Wide nose, Coarctation of a... ORPHA:1052
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Kyphosis, Distichiasis, Scoliosis, Delayed puberty, Microcephaly ORPHA:2598
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Kyphosis, Thick hair, Thick eyebrow, Low posterior hairline, Scoliosis, Synophrys ORPHA:2429
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares, Short neck, Microcephaly ORPHA:1832
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Dysplastic sacrum, Wide nose, Short nose, Cardiomegaly, Severe platyspond... OMIM:613320
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Agenesis of corpus callosum, Wide nasal bridge, Patent ductus arteriosus... ORPHA:250989
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hypothalamic hamartoma, Abnormal heart morphology, Short nose, Hydrocepha... OMIM:241800
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Narrow nose, Long nose, Short nose, Coarctation of aorta, Atrial septa... OMIM:617602
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Depressed nasal bridge, Lobar holoprosencephaly ORPHA:2117
Acromicric Dysplasia
Short nose, Long eyelashes, Decreased nerve conduction velocity, Abnormal eyebrow morphology, Ovo... ORPHA:969
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary hypoplasia, Hydrocepha... OMIM:619534
Chromosome 16P13.3 Duplication Syndrome
Short nose, Ventricular septal defect, Atrial septal defect, Bulbous nose OMIM:613458
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Optic atrophy, Pericarditis, Mediastinal lymphadeno... ORPHA:397
17P13.3 Microduplication Syndrome
Wide nose, Short nose, Short neck, Hypoplasia of the corpus callosum, Inguinal hernia ORPHA:217385
Microphthalmia, Syndromic 2
Adrenal insufficiency, Patent ductus arteriosus, Iris coloboma, Remnants of the hyaloid vascular ... OMIM:300166
Frontonasal Dysplasia 1
Broad nasal tip, Short columella, Wide nasal bridge, Bifid nose, Pericallosal lipoma, Tetralogy o... OMIM:136760
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level OMIM:125700
Dyrk1A-Related Intellectual Disability Syndrome
Narrow nasal tip, Ventricular septal defect, Optic disc pallor, Prominent nasal bridge, Patent du... ORPHA:464306
Lowry-Maclean Syndrome
Convex nasal ridge, Atrioventricular canal defect, Coarctation of aorta, Short nose, Short nasal ... ORPHA:2409
Rhiny
Anteverted nares, Short nose, Inguinal hernia OMIM:180360
Muscle-Eye-Brain Disease
Meningocele, Optic atrophy, Holoprosencephaly, Hydrocephalus ORPHA:588
Limb-Mammary Syndrome
Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilateral breast hypoplasia,... ORPHA:69085
8Q24.3 Microdeletion Syndrome
Branchial cyst, Truncus arteriosus, Retinal coloboma, Patent ductus arteriosus, Anteverted nares,... ORPHA:508488
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Prominent nasal tip, Ventricular septal defect, Pineal cyst, Depressed nasal bridge, Sparse later... ORPHA:513456
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Holoprosencephaly, Hypergonad... ORPHA:250999
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Short nose, Slender nose, Cryptorchidis... OMIM:615419
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Depressed nasal ridge, Hypopigmentation of hair, Short nose ORPHA:1355
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Short columella, Patchy distortion of vertebrae, S... ORPHA:1248
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Low posteri... OMIM:617506
Mental Retardation, X-Linked 91
Low posterior hairline, Short nose OMIM:300577
Hypoplastic Left Heart Syndrome
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... ORPHA:2248
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Scoliosis OMIM:618218
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Synophrys, Coarctation o... ORPHA:261494
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Depressed nasal bridge, Short nose, Long eyelashes, Patent du... ORPHA:1272
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Ventricular septal defect, Aganglionic megacolon, Depressed nasa... OMIM:270400
Codas Syndrome
Ventricular septal defect, Depressed nasal bridge, Coronal cleft vertebrae, Short nose, Abnormal ... ORPHA:1458
Proboscis Lateralis
Ventricular septal defect, Chorioretinal coloboma, Holoprosencephaly, Optic nerve hypoplasia, Cyc... ORPHA:141099
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Partial agenesis... OMIM:222448
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Omphalocele, Dysplastic tricuspid valve, Neonatal death, Patent ductus art... OMIM:265380
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Abnormality of the spleen, Arrhinencephaly, Truncus arteriosus, Absen... ORPHA:2538
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Retinal coloboma, Patent ductus arteriosus... ORPHA:2328
De Barsy Syndrome
Ventricular septal defect, Umbilical hernia, Persistent left superior vena cava, Kyphoscoliosis, ... ORPHA:2962
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Porencephalic cyst, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Short nose, Wide nasal bridge, Cardiomyopathy, Frontal cortical... OMIM:618437
Hypertelorism And Tetralogy Of Fallot
Depressed nasal bridge, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with a... OMIM:239711
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Short nose, Scoliosis OMIM:617183
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Cyclopia, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Isolated Exencephaly
Maternal diabetes, Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Anter... ORPHA:563612
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Ventricular septal defect, Sparse eyelashes, Optic atrop... OMIM:234050
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Spinal canal stenosis, Decreased response to grow... OMIM:618624
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Short nose, Abnormal... ORPHA:457279
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Optic atrophy, Facial hirsutism, Short nose, Wide nasal bridge, Low ... OMIM:619383
Distal Tetrasomy 15Q
Abnormal heart morphology, Patent ductus arteriosus, Kyphosis, Atrial septal defect, Hydrocephalu... ORPHA:314588
Holoprosencephaly 3
Depressed nasal bridge, Holoprosencephaly, Short columella, Proboscis, Abnormality of the nose, C... OMIM:142945
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Transposition of the great arteries, Bulbous nose, Cryptorchidism, Colobo... OMIM:616789
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Progressive microcephaly, Short nose, Depressed nasal bridge ORPHA:438178
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Underdeveloped nasal alae, Pancreatic hypoplasia, Perimembranous ventricular septal defect, Coars... ORPHA:83617
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Depressed nasal bridge, Low anterior hairline, Abnormal heart morpholo... ORPHA:369891
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, Optic atrophy, Depressed nasal bridge, Polysplenia, Paten... OMIM:201000
Odontochondrodysplasia
Depressed nasal bridge, Short nose, Platyspondyly, Patent ductus arteriosus, Scoliosis ORPHA:166272
Simpson-Golabi-Behmel Syndrome, Type 2
Wide nose, Short nose, Recurrent upper respiratory tract infections, Anteverted nares, Short neck... OMIM:300209
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614069
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Hirsutism, Tortuous cerebral arter... OMIM:619472
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Prominent eyelashes, Short nose, Wide nasal bridge, Prominent nasal b... OMIM:619179
Coffin-Siris Syndrome
Hirsutism, Prominent eyelashes, Short nose, Papillary thyroid carcinoma, Patent ductus arteriosus... ORPHA:1465
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Short neck, Hepatosplenomegaly ORPHA:221054
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Depressed nasal bridge, Short nose... OMIM:145420
Ring Chromosome 12 Syndrome
Hirsutism, Dystrophic toenail, Hypothyroidism, Cryptorchidism, Secundum atrial septal defect, Bre... ORPHA:1439
Arachnoid Cyst
Holoprosencephaly, Sciatica, Abnormality of the endocrine system, Cranial nerve compression, Post... ORPHA:2356
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Short nose, Abnormal cerebral white matter morphology, Anteverted nares, ... OMIM:613443
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Depressed nasal bridge, Myelomeningocele, Punctate vertebral calcifications, Short... ORPHA:1914
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Optic disc pallor, Lobar holoprosencephaly, Sacrococcygeal pilon... ORPHA:468631
Ear-Patella-Short Stature Syndrome
Breast aplasia, Cryptorchidism, Microcephaly ORPHA:2554
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Short nose, Cardiomyopathy, Patent ductus arteriosus, Wide anterior fonta... OMIM:217980
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Cerebral white matter atrophy, Short nose, Secondary microcephaly, Scoliosis OMIM:615042
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Inguinal hernia, Abnormal hair whorl, Hydrocephalus, Anteverted nares, Hy... ORPHA:457284
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Neoplasm of the thymus, Increased circulati... ORPHA:97289
Stickler Syndrome Type 1
Short nose, Mitral valve prolapse, Platyspondyly, Abnormality of vertebral epiphysis morphology ORPHA:90653
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Wide nasal bridge, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callos... OMIM:612651
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Highly arched eyebrow, Ventricular septal defect, Narrow nose, Hirsutism, Low anterior hairline, ... OMIM:301044
Jacobsen Syndrome
Ventricular septal defect, Agenesis of corpus callosum, Annular pancreas, Coarctation of aorta, A... ORPHA:2308
Marshall-Smith Syndrome
Omphalocele, Cerebral atrophy, Depressed nasal bridge, Umbilical hernia, Short nose, Patent ductu... OMIM:602535
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Omphalocele, Dysplastic corpus callosum, Streak ovary, Colpocephaly, H... OMIM:618820
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Hemivertebrae, Cervical C2/C3 vertebral f... ORPHA:1780
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Short nose, Short neck, Inguinal hernia OMIM:613544
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Hemivertebrae, Short nose, Wide nasal bridge, Transposition of the gre... OMIM:227255
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Depressed nasal bridge, Wafer-thin platyspondyly, Sparse hair, Ventricular hypertrophy, Short nos... OMIM:602613
Ring Chromosome 8 Syndrome
Anteverted nares, Low posterior hairline, Short nose ORPHA:1450
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Sparse eyelashes, Short nose, Patent ductus arteriosus, Low posterior hairline, Sparse and thin e... OMIM:213980
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Depressed nasal bridge, Short nose, Coarctation of aorta, Subvalvular ... OMIM:614114
Robinow Syndrome, Autosomal Dominant 3
Pulmonary artery atresia, Omphalocele, Ventricular septal defect, Depressed nasal bridge, Short n... OMIM:616894
Intellectual Disability-Strabismus Syndrome
Prominent nose, Highly arched eyebrow, Depressed nasal bridge, Decreased serum insulin-like growt... ORPHA:363528
Craniofrontonasal Syndrome
Widow's peak, Hypoplastic nasal tip, Umbilical hernia, Wide nasal bridge, Unilateral breast hypop... OMIM:304110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Inverted nipples, Depressed nasal bridge, Restrictive cardiomyopathy, Short nose, Patent ductus a... OMIM:615398
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Depressed nasal ridge, Abnormality of secondary sexual hair, Decreased ... ORPHA:90695
Pituicytoma
Galactorrhea, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Hy... ORPHA:251623
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Kyphoscoliosis, Short nose, Sacral dimple, Anteverted nares, Cryptorchidi... OMIM:616331
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly, Hypoplastic vertebral bodies ORPHA:2163
Craniodigital-Intellectual Disability Syndrome
Short nose, Long eyelashes, Abnormal hair pattern, Thick hair, Narrow nasal bridge, Thick eyebrow... ORPHA:1514
Distal Trisomy 18Q
Short nose, Progressive intervertebral space narrowing, Prominent nasal bridge, Abnormal hair pat... ORPHA:1716
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Depressed nasal bridge, Short nose, Abnormal form of the vertebral bodies,... ORPHA:1327
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
C Syndrome
Omphalocele, Ventricular septal defect, Short nose, Wide nasal bridge, Patent ductus arteriosus, ... OMIM:211750
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Patent ductus arteriosus, Iris coloboma, Optic... ORPHA:52055
Cardiac Diverticulum
Bicuspid aortic valve, Omphalocele, Tricuspid stenosis, Abnormal coronary artery origin, Mitral s... ORPHA:1686
Ververi-Brady Syndrome
Prominent nose, Broad nasal tip, Wide nose, Transposition of the great arteries, Bulbous nose, Sc... OMIM:617982
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Retinal coloboma, Holoprosencephaly, Patent ductus arteriosus, Aplasia... OMIM:615948
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Depressed nasal bridge, Low anterior hairline, Optic nerve hypoplasia, Sho... OMIM:618828
Ohdo Syndrome
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Sparse and thin eyebrow,... OMIM:249620
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia,... ORPHA:496790
Iniencephaly
Omphalocele, Anencephaly, Myelomeningocele, Holoprosencephaly, Gastroschisis, Lissencephaly, Spin... ORPHA:63259
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Depressed nasal bridge, Holo... OMIM:610829
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Pancreatic hypoplasia, Congenital hypothyroid... ORPHA:2255
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hypoplastic nipples, Hepatosplenomegaly, Anteverted nares, Pulmonary artery stenosis... ORPHA:96334
Scalp-Ear-Nipple Syndrome
Breast aplasia, Aplasia/Hypoplasia of the nipples, Sparse hair, Type I diabetes mellitus ORPHA:2036
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... ORPHA:91355
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Cerebral calcification, Abnormal eyelash mor... ORPHA:2396
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Sparse hair, Low anterior hairline, Kyphoscoliosis, Short nose, Wide nose, Primary mic... ORPHA:391408
Microphthalmia, Syndromic 3
Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Hypothalamic ham... OMIM:206900
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Optic disc pallor, Depressed nasal bridge, Sparse hair, Short nose, Co... OMIM:244450
Becker Nevus Syndrome
Scoliosis, Unilateral breast hypoplasia, Hemivertebrae OMIM:604919
Waardenburg Syndrome Type 1
Meningocele, Underdeveloped nasal alae, Aganglionic megacolon, Abnormal hair morphology, White ha... ORPHA:894
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Omphalocele, Broad nasal tip, Short nose, Long eyelashes, Wide nasal bridg... OMIM:618529
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypoplasia of the corpus callosum, Short nose, Optic atrophy, Microcephaly ORPHA:1495
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Sparse and thin eyebrow, Primary gonadal insufficiency, Breast hypoplasia, Abs... ORPHA:2232
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose, Long eyelashes, Progressive microcephaly, Hypoplasia of the c... OMIM:617802
Achondrogenesis
Umbilical hernia, Short nose, Anteverted nares, Short neck, Inguinal hernia ORPHA:932
9q subtelomeric deletion syndrome
Abnormal heart morphology, Short nose, Anteverted nares, Microcephaly, Synophrys DECIPHER:52
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Short nose, Cerebral atrophy, Patent foramen ovale, Inguinal hernia OMIM:615539
Perlman Syndrome
Abnormal pancreas morphology, Short nose, Wide nasal bridge, Hyperinsulinemia, Anteverted nares, ... ORPHA:2849
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Abnormal heart morphology, Short nose, Prominent nasolabial fold, Recurrent uppe... ORPHA:391372
Schimke Immunoosseous Dysplasia
Fine hair, Depressed nasal bridge, Coarse hair, Platyspondyly, Ovoid vertebral bodies, Arterioscl... OMIM:242900
Trisomy 20P
Abnormal form of the vertebral bodies, Short nose, Anteverted nares, Low posterior hairline, Vert... ORPHA:261318
Desmosterolosis
Abnormal cortical gyration, Depressed nasal bridge, Short nose, Patent ductus arteriosus, Abnorma... ORPHA:35107
Rubinstein-Taybi Syndrome 1
Hirsutism, Patent ductus arteriosus, Abnormality of the nasal septum, Low hanging columella, Colo... OMIM:180849
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Depressed nasal bridge, Short nose, Long eyelashes, Breast hypoplasia, Cerebral atrophy, Cryptorc... OMIM:601353
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Abnormal heart morphology, Abnormality of the lymphatic system, Epistaxis,... ORPHA:137667
Distal Monosomy 10Q
Widow's peak, Prominent nose, Facial diplegia, Short nose, Wide nasal bridge, Patent ductus arter... ORPHA:96148
Micro Syndrome
Optic atrophy, Retinal coloboma, Short nose, Wide nasal bridge, Kyphosis, Delayed puberty, Pachyg... ORPHA:2510
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... ORPHA:392
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Short nose, Cardiomegaly, Platyspondyly, ... OMIM:616897
Femoral-Facial Syndrome
Maternal diabetes, Abnormal sacrum morphology, Short nose, Aplasia/Hypoplasia of the corpus callo... ORPHA:1988
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Venous insufficiency, Cerebral calcification, Scoliosis, Arter... ORPHA:624
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent ductus arteriosus, Tetral... OMIM:601005
Wolcott-Rallison Syndrome
Central hypothyroidism, Double outlet right ventricle, Atrial septal defect, Hypothyroidism, Neon... ORPHA:1667
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Depressed nasal bridge, Short nose, Hypogonadism, Short nasa... OMIM:302950
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Ventricular septal defect, Increased circulating gonadotropin level, Atrial sep... OMIM:301030
Robinow Syndrome
Ventricular septal defect, Broad nasal tip, Tricuspid atresia, Depressed nasal bridge, Hemiverteb... ORPHA:97360
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Ventricular septal defect, Short nose, Recurrent upper respiratory tract infection... ORPHA:3078
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Broad nasal tip, Decreased serum insulin-... ORPHA:1596
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Atrial septal defect, Anteverted nares, Precocious puberty, Microcephaly OMIM:619356
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Vascular ring, Abnormality of the curvature of ... ORPHA:353281
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Hypogonadotropic hypogonadism, Sparse pubic hair, Decreased serum estradiol, ... ORPHA:52901
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal aortic morphology, Depressed nasal bridge, Umbilical hernia, ... ORPHA:1507
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Sparse eyebrow, Pulmonic stenosis, Curly hair, C... OMIM:616559
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Abnormal vertebral morphology, Nail dystrophy, Sho... ORPHA:99688
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Aortic dissection, Peripheral axonal neuropathy, Mitral valve prolapse, ... ORPHA:1900
Parkes Weber Syndrome
Arteriovenous fistula, Abnormal lymphatic vessel morphology, Spinal arteriovenous malformation, B... ORPHA:90307
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Depressed nasal bridge, Congenital hypothyroidism, Short nose, Diabetes me... OMIM:614613
Spondyloepiphyseal Dysplasia, Nishimura Type
Depressed nasal bridge, Short nose, Platyspondyly, Ovoid vertebral bodies, Wide anterior fontanel... ORPHA:163649
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Anencephaly, Polysplenia, Absent gallbladder, Atrial sept... ORPHA:1335
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Abnormal cerebral cortex morphology, Short nose, Hydrocephalus, Thick nas... ORPHA:163961
Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Iris coloboma, Anteverted nares, Aortic valve stenosis, Congenital kyphoscoliosis, De... ORPHA:536471
Ruvalcaba Syndrome
Convex nasal ridge, Short nose, Kyphosis, Microcephaly, Delayed puberty, Generalized hirsutism, C... ORPHA:3121
Chops Syndrome
Optic atrophy, Short nose, Long eyelashes, Patent ductus arteriosus, Thick hair, Thick eyebrow, A... OMIM:616368
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Beaking of vertebral bodies, Kyphoscoliosis, Short nose, Platyspondyly, P... ORPHA:457395
Ring Chromosome 7 Syndrome
Highly arched eyebrow, Narrow naris, Low anterior hairline, Holoprosencephaly, Situs inversus tot... ORPHA:1449
Slc35A2-Cdg
Inverted nipples, Abnormal heart morphology, Cerebral white matter atrophy, Cortical dysplasia, P... ORPHA:356961
Cardiofaciocutaneous Syndrome 1
Short nose, Splenomegaly, Bulbous nose, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus,... OMIM:115150
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection, Abnormal car... ORPHA:3342
Trisomy 8P
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Annular pa... ORPHA:264450
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Short nose, Coarse hair, Abnormality of hair texture, Pachygyria, Wide anterior fon... OMIM:219200
Fg Syndrome Type 1
Prominent nose, Mitral valve prolapse, Umbilical hernia, Optic nerve hypoplasia, Coarctation of a... ORPHA:93932
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Optic atrophy, Hypertrichosis, Lumbar kyphosis, Abnormal heart morph... ORPHA:505248
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arte... ORPHA:163979
Intellectual Developmental Disorder, X-Linked 30
Short nose, Prominent nasal bridge, Hydrocephalus, Anteverted nares, Microcephaly OMIM:300558
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial septal defect, Venous insuf... ORPHA:90308
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Abnormality of the t... ORPHA:1923
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Hypoplastic vertebral bodies OMIM:601370
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplastic nipples, Neonatal death, Short nose, Patent ductus arteriosus,... OMIM:612289
Fibrochondrogenesis 1
Omphalocele, Depressed nasal bridge, Posterior vertebral hypoplasia, Short nose, Platyspondyly, S... OMIM:228520
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse, Depressed nasal bridge, Beaking of verte... ORPHA:536467
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Hyperphosphatasia With Mental Retardation Syndrome 2
Broad nasal tip, Aganglionic megacolon, Peripheral pulmonary artery stenosis, Short nose, Wide na... OMIM:614749
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Prominent nasal bridge, Patent ductus arteriosus, Iris coloboma, Optic... OMIM:300472
Giant Axonal Neuropathy
Diffuse axonal swelling, Facial palsy, Abnormality of the pituitary gland, Woolly hair, Scoliosis... ORPHA:643
Glutamine Deficiency, Congenital
Depressed nasal bridge, Neonatal death, Short nose, Wide nasal bridge, Anteverted nares, Dilation... OMIM:610015
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Sparse lateral eyebrow OMIM:601224
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Abnormal verte... ORPHA:210122
Fetal Alcohol Syndrome
Short nose, Atrial septal defect, Generalized hirsutism, Anteverted nares, Vertebral segmentation... ORPHA:1915
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology, Atrioventricular canal defect... OMIM:314390
Lethal Congenital Contracture Syndrome 10
Omphalocele, Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta,... OMIM:617022
Chromosome 19Q13.11 Deletion Syndrome, Distal
Underdeveloped nasal alae, Sparse eyelashes, Short nose, Sparse eyebrow, Wide nasal bridge, Wide ... OMIM:613026
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Wide nas... OMIM:305400
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose, Absent eyebrow, Absent eyelashes, Microcephaly OMIM:200130
Chung-Jansen Syndrome
Short nose, Thick eyebrow, Anteverted nares, Cryptorchidism, Synophrys OMIM:617991
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Long nose, Wide nose, Patent ductus arteriosus, Tetralogy of Fallot,... ORPHA:2184
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Retinal coloboma, Abnormal heart morphology, Short nose, Wide nasal bridge, Horizontal eyebrow, B... OMIM:618571
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Short nose, Kyphosis, Bulbous nose, Scoliosis, Agenesis of corpus callosu... ORPHA:261144
Zimmermann-Laband Syndrome 1
Hirsutism, Aortic root aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:135500
Cardiofaciocutaneous Syndrome
Brittle hair, Short nose, Hydrocephalus, Anteverted nares, Low posterior hairline, Sparse hair, A... ORPHA:1340