Gene Summary

Name:
DEAH-box helicase 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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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.

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 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
Verheij Syndrome
Short nose, Anteverted nares, Coloboma, Scoliosis, Hemivertebrae, Branchial cyst, Truncus arterio... OMIM:615583
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Wide intermamillary distance, Short neck, Ventric... ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Synophrys, Abnormal hea... ORPHA:401935
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Chronic rhinitis, Conge... OMIM:618300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal nostril morphology, Moyamoya phenomenon, Decreased response to growth hormone stimulatio... OMIM:300845
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydrocephalus, Coloboma, Hemivertebrae, Ad... OMIM:220210
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Microform Holoprosencephaly
Short nose, Cyclopia, Maternal diabetes, Narrow nasal bridge, Anteverted nares, Scoliosis, Panhyp... ORPHA:280200
Skraban-Deardorff Syndrome
Anteverted nares, Right aortic arch, Sparse lateral eyebrow, Ventricular septal defect, Depressed... OMIM:617616
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Alobar holoprosencephaly, Hydrocephalus,... OMIM:609637
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Underdeveloped nasal alae, Hydranencephaly OMIM:601355
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymu... ORPHA:3426
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Parachute mitral valve, Highly arched eyebrow, Anteverted nares, Scoliosis, Patent fo... OMIM:618316
Stankiewicz-Isidor Syndrome
Sacral dimple, Truncus arteriosus, Cryptorchidism, Abnormal optic disc morphology, Patent ductus ... OMIM:617516
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Inguinal hernia, Hypoplasti... OMIM:601186
Emanuel Syndrome
Sacral dimple, Inguinal hernia, Low hanging columella, Hydrocephalus, Scoliosis, Truncus arterios... OMIM:609029
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Hemivertebrae, Adrenal h... OMIM:264480
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Anomalous origin of left coronary artery from the pulmonary artery, Vertebral segm... OMIM:618845
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Perimembranous ventricular septal defect, Transposition of the great arteries, Spondy... OMIM:617877
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Truncus arteriosus, Underdeveloped nasal alae OMIM:611867
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Kyphosis, Holoprosencephaly, Patent ductus arteriosus, Platyspondyl... ORPHA:93274
Recombinant Chromosome 8 Syndrome
Anteverted nares, Scoliosis, Low posterior hairline, Cryptorchidism, Pulmonic stenosis, Tetralogy... OMIM:179613
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hydrocephalus, Hemivertebrae, Cryptorchidism, Holoprosencephaly, A... ORPHA:77298
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Emanuel Syndrome
Kyphoscoliosis, Sacral dimple, Inguinal hernia, Low hanging columella, Hydrocephalus, Scoliosis, ... ORPHA:96170
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, Scoliosis, Pulmonic stenosis, Umbilica... OMIM:618205
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Scoliosis, Coloboma, Omphalocele, Holoprosencephaly, Ventricular septal d... OMIM:601357
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Pulmonary artery ... ORPHA:1908
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Bicuspid aortic valve, Perimembranous ven... ORPHA:508498
Holoprosencephaly
Abnormal form of the vertebral bodies, Highly arched eyebrow, Anosmia, Absent nares, Optic atroph... ORPHA:2162
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr... ORPHA:1457
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy... OMIM:620135
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Highly arched eyebr... OMIM:618804
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Distal Deletion 13Q
Optic atrophy, Anencephaly, Encephalocele, Abnormal form of the vertebral bodies, Abnormal cardia... ORPHA:1590
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Atrioventricular canal defect, Breast aplasia, Anteverted nares, Patent... ORPHA:276413
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr... OMIM:608978
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short nose, Decreased response to growth hormone stimulation test, Sacral dimple, Inguinal hernia... ORPHA:268261
Ring Chromosome 21 Syndrome
Diabetes insipidus, Scoliosis, Abnormal heart morphology, Holoprosencephaly, Thoracic hemivertebr... ORPHA:1445
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Vascular ring, Broad nasal tip, Patent ductus arteriosus, Overriding aorta, Atrial s... OMIM:601927
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, Highly arched eyebrow, Anteverted nare... OMIM:158170
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Short nose, Decreased response to growth hormone stimulation test, Hi... ORPHA:502430
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, High anterior hairline, Highly arched eyebrow, Laterall... OMIM:600987
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus, Hypothyroidism, Neonatal deat... OMIM:608104
Meier-Gorlin Syndrome 7
Breast aplasia, Wide anterior fontanel, Scoliosis, Vertebral segmentation defect, Choanal atresia... OMIM:617063
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal form of the vertebral bodies, Hirsutism, Premature thelarche, Omphalocele, Coarctation o... ORPHA:371428
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Maternal diabetes, A... ORPHA:860
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Long nose, Perimembranous ventricular septal defect, Muscular ventric... ORPHA:363444
Sotos Syndrome
High anterior hairline, Muscular ventricular septal defect, Anteverted nares, Scoliosis, Cryptorc... OMIM:117550
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Pulmonic stenosis, Frontal hirsutism, Tetralogy of Fallot, Patent ductus a... ORPHA:3304
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm, Multiple muscular ventricular septal defects, Sparse eyelashes, Pericardial effu... OMIM:620070
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Wide nose, Cleft ala nasi, Breast aplasia, Decreased testicular size, Elevated... ORPHA:3044
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Cyclopia, Butterfly vertebrae, Alobar holoprosencephaly, Optic nerve... OMIM:301043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Spinal rigidity, Transposition of the great arteries, Enceph... OMIM:253800
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Long nasal bridge, Thick eyebrow, Cryptorchidism OMIM:620071
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Hypoparathyroidism, Inguinal hernia, Interrupted a... OMIM:192430
Acrocardiofacial Syndrome
Truncus arteriosus, Cryptorchidism, Long eyelashes, Coarctation of aorta, Mitral stenosis, Tetral... ORPHA:2008
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Abnormality of the adrenal glands, Peripheral schwannom... ORPHA:252164
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism,... OMIM:306955
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Splenomegaly OMIM:616589
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Kyphosis, Vascular ring, Thoracic scoliosis, Atrial septal defect, Ventricular sep... OMIM:603387
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Scoliosis, Vertebral segmentation defect, Cryptorchidism, Sparse eyebrow, Broad... OMIM:612530
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
Incontinentia Pigmenti
Kyphoscoliosis, Breast hypoplasia, Optic atrophy, Nail dystrophy, Breast aplasia, Hemivertebrae, ... OMIM:308300
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Wide nose, Interrupted aortic arch, Scoliosis, Depressed nas... ORPHA:1727
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Distal Monosomy 7Q36
Optic atrophy, Cryptorchidism, Wide intermamillary distance, Holoprosencephaly, Short neck, Bulbo... ORPHA:1636
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Inguinal hernia, Broad nasal tip, Umbilical hernia, Atrial se... OMIM:618354
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Cyclopia, Abnormal cranial nerve morphology, Holoprosencephaly, Agenesis ... ORPHA:990
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Arteria lusoria, Muscular ventricular sep... OMIM:212093
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Wide nose, Aortic aneurysm, Patent foramen ovale, Persistent... ORPHA:477817
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Partial anosmia, Anomalous origin of left coronary artery from the pulmonary art... ORPHA:2326
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Fused cervi... ORPHA:268882
Pallister-Hall Syndrome
Short nose, Decreased response to growth hormone stimulation test, Anteverted nares, Hemivertebra... OMIM:146510
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Sacral dimple, Increased vertebral height, Abnormal ver... OMIM:620662
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Nail dystrophy, Highly arched eyebrow, Ventricular hypertrophy, Wide intermamillary d... OMIM:300887
3C Syndrome
Kyphosis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve stenosis, Optic atrop... ORPHA:7
Triploidy
Meningocele, Hydrocephalus, Abnormal cardiac septum morphology, Omphalocele, Holoprosencephaly, S... ORPHA:3376
Distal 22Q11.2 Microdeletion Syndrome
Inguinal hernia, Aortic aneurysm, Highly arched eyebrow, Hyperlordosis, Truncus arteriosus, Choan... ORPHA:261330
Fetal Trimethadione Syndrome
Short nose, Transposition of the great arteries, Scoliosis, Synophrys, Tetralogy of Fallot, Atria... ORPHA:1913
Phaver Syndrome
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Pulmonary ar... ORPHA:2876
Barber-Say Syndrome
Sparse or absent eyelashes, Breast aplasia, Anteverted nares, Hypoplastic nipples, Generalized hi... ORPHA:1231
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Ventricular hypertrophy, Ventricular septal defect, Choanal atresia, Synophrys, Pulmo... ORPHA:284169
14Q11.2 Microdeletion Syndrome
Short nose, Highly arched eyebrow, Sparse lateral eyebrow, Patent ductus arteriosus, Ventricular ... ORPHA:261120
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Rubinstein-Taybi Syndrome 1
Highly arched eyebrow, Low posterior hairline, Premature thelarche, Mitral valve prolapse, Perime... OMIM:180849
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Splenomegaly, Umbilical hernia, Optic atrophy, Tricuspid atresia... ORPHA:567
Ulnar-Mammary Syndrome
Delayed puberty, Breast aplasia, Hypoplastic nipples, Cryptorchidism, Absent axillary hair, Ventr... ORPHA:3138
Holoprosencephaly 14
Aqueductal stenosis, Cyclopia, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Anteverted nar... OMIM:619895
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, Wide nose, Spi... OMIM:619227
Scalp-Ear-Nipple Syndrome
Short columella, Breast aplasia, Anteverted nares, Cardiac myxoma, Patchy alopecia, Aplasia/Hypop... OMIM:181270
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Short neck, Abnormal vertebral morphology ORPHA:2015
16P13.11 Microdeletion Syndrome
Short nose, Cyclopia, Anteverted nares, Cryptorchidism, Holoprosencephaly, Agenesis of corpus cal... ORPHA:261236
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Monosomy 18P
Kyphoscoliosis, Low posterior hairline, Wide intermamillary distance, Hypothyroidism, Holoprosenc... ORPHA:1598
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Vertebral segmentation defect, Omphalocele, Aplasia of the nose, Holoprosencephaly, Tet... ORPHA:3186
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Inguinal he... OMIM:618651
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Acalvaria
Hydrocephalus, Omphalocele, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Asplenia, Pu... OMIM:615415
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2370
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Even-Plus Syndrome
Dysplastic corpus callosum, Short nose, Highly arched eyebrow, Patent foramen ovale, Bifid nasal ... OMIM:616854
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado... ORPHA:755
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Kyphosis, Decreased testicular size, Agenesis of corpus callosum, Crypt... OMIM:615433
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hydrocephalus, Wide anterior fontanel, Abnormality of the hairline, Patent ductus... OMIM:614886
Solitary Median Maxillary Central Incisor
Cyclopia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Colobo... OMIM:147250
Femoral-Facial Syndrome
Short nose, Maternal diabetes, Encephalocele, Inguinal hernia, Scoliosis, Hemivertebrae, Truncus ... OMIM:134780
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Short nose, Perimembranous ventricular septal defect, Anteverted nares, Scoliosis... OMIM:301040
Charge Syndrome
Delayed puberty, Highly arched eyebrow, Anosmia, Umbilical hernia, Abnormal cardiac septum morpho... ORPHA:138
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Charge Syndrome
Delayed puberty, Anosmia, Pulmonic stenosis, Dysplastic tricuspid valve, Umbilical hernia, Decrea... OMIM:214800
Fliedner-Zweier Syndrome
Hypoplastic aortic arch, Meningocele, Scoliosis, Ventricular septal defect, Kyphosis, Bicuspid ao... OMIM:620511
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Highly arched eyebrow, Anteverted nares, Hemivertebrae, Vertebral clefting, Synophrys... OMIM:614701
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Muscular ventricular septal defect, Sparse scalp hair, Hydrocele testis OMIM:620062
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Butterfly vertebrae, Cervical spinal canal stenosis, Nasal congestion, Pu... ORPHA:79345
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Muscular ventricular septal defect, Recurrent phary... ORPHA:79324
Short-Rib Thoracic Dysplasia 12
Anencephaly, Inguinal hernia, Hydrocephalus, Patent foramen ovale, Hypoplastic nipples, Wide inte... OMIM:269860
Holoprosencephaly 11
Synophrys, Thick eyebrow, Holoprosencephaly, Agenesis of corpus callosum, Polysplenia OMIM:614226
Microphthalmia/Coloboma 5
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Aplasia of the thymus,... OMIM:618223
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Hydrocephalus, Aortic aneurysm, Dysplastic pulmonary val... ORPHA:1600
Holoprosencephaly 7
Hydrocephalus, Hypoplastic nasal septum, Depressed nasal tip, Occipital meningocele, Holoprosence... OMIM:610828
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Optic nerve hypoplasia, Hirsutism, Pulmonary artery atresia, Cryptorchidism,... OMIM:301056
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Wide intermamillary distance, Aortic valve stenosis, Umbilical hernia, Bicuspid aortic valve, Opt... OMIM:618164
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Inguinal hernia, Hydrocephalus, Anteverted nares, Abnormal cardi... ORPHA:2306
Agnathia-Otocephaly Complex
Situs inversus totalis, Wide nose, Secundum atrial septal defect, Holoprosencephaly, Agenesis of ... OMIM:202650
8Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Optic nerve hypoplasia, Abnormal heart morphology, Ectopic posterior pitui... ORPHA:508488
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Anteverted nares, Synophrys, Generalized hirsutism, Thick eyebrow ORPHA:217340
Mullegama-Klein-Martinez Syndrome
High anterior hairline, Curly eyelashes, Scoliosis, Facial palsy, Coarctation of aorta, Low anter... OMIM:301022
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Anteverted nares, Abnormal hair quantity... ORPHA:238468
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... ORPHA:980
Jacobsen Syndrome
Optic atrophy, Short nose, Annular pancreas, Hydrocephalus, Anteverted nares, Abnormal eyelash mo... OMIM:147791
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Vertebral segmentation defect, Abnormal aorti... ORPHA:1926
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Wide nose, Aortic root aneurysm, Bicuspid aortic valve, Vent... OMIM:616652
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic nasal tip, Fused cervical vertebrae, Hypoplastic ... OMIM:157800
Ogden Syndrome
Left atrial enlargement, Bifid nasal tip, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... OMIM:300855
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Gillespie Syndrome
Truncus arteriosus, Aniridia OMIM:206700
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Optic nerve hypoplasia, Osteoporosis o... ORPHA:95494
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Ovarian cyst, Splenomegaly, A... OMIM:188400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Colpocephaly, Lateral ventricle dilatation, Sparse hair, Fine hair, Muscular ventricular septal d... OMIM:210710
Fryns Syndrome
Aganglionic megacolon, Abnormal aortic arch morphology, Anteverted nares, Abnormal aortic morphol... ORPHA:2059
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Bicuspid aortic valve, Perimembranous ventricular septal defect, Transposi... OMIM:612474
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Scoliosis, Right aortic arch, Kyphosis, Abnormal heart morphology, Bicuspid aorti... OMIM:301111
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Abnormal aortic morphology, Cryptorchidism, Tetralogy of Fallot, A... ORPHA:1166
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Perimembranous ventricular septal defect, Wide nose, Secundum atrial septal defect, L... OMIM:608779
Maternal Phenylketonuria
Deviated nasal septum, Anteverted nares, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:2209
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hyperlordosis, Thyroid hypoplasia, Wide intermamillary distance, Decreased... OMIM:619503
Lambotte Syndrome
Convex nasal ridge, Semilobar holoprosencephaly, Ventricular septal defect OMIM:245552
Developmental And Epileptic Encephalopathy 73
Short nose, Scoliosis, Inguinal hernia, Narrow nasal bridge OMIM:618379
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Bullous Lichen Planus
Breast aplasia ORPHA:33408
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Double a... ORPHA:95430
Gapo Syndrome
Optic atrophy, Short nose, Breast hypoplasia, Anteverted nares, Scoliosis, Hypoplastic nipples, W... OMIM:230740
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Sacral dimple, Wide nose, Low insertion of columella, Scoliosis, Dextrotransposition o... OMIM:619995
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Muscular ventricular septal defect, Hypothyroidism, Low anterior hair... OMIM:618569
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Baraitser-Winter Syndrome 1
Short nose, Highly arched eyebrow, Anteverted nares, Low posterior hairline, Aortic valve stenosi... OMIM:243310
8P23.1 Microdeletion Syndrome
Short nose, Transposition of the great arteries, Atrioventricular canal defect, Abnormal aortic m... ORPHA:251071
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Holoprosencepha... OMIM:613884
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Stillbirth, Abnormal vertebral morphology, Depressed nasal br... OMIM:215045
49,Xxxxy Syndrome
Wide nose, Scoliosis, Depressed nasal ridge, Decreased testicular size, Holoprosencephaly, Type I... ORPHA:96264
Non-Distal Duplication 10Q
Short nose, Scoliosis, Convex nasal ridge, Cryptorchidism, Depressed nasal bridge ORPHA:1695
Phace Syndrome
Abnormal carotid artery morphology, Abnormal cardiac septum morphology, Aortic root aneurysm, Opt... ORPHA:42775
Tetrasomy 15Q26
Kyphoscoliosis, Hypoplastic aortic arch, Hydrocephalus, Patent ductus arteriosus, Atrial septal d... OMIM:614846
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Anteverted nares, Increased interv... OMIM:618961
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Breast aplasia OMIM:612242
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Sandwich appearance of vertebral bodies, Anteverted nares, Ectopic anterior pituitary gland, Choa... OMIM:620558
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macroorchidism OMIM:300706
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... ORPHA:1200
Moebius Syndrome
Facial palsy, Hypogonadotropic hypogonadism, Breast aplasia, Abnormality of the sense of smell ORPHA:570
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Pulmo... OMIM:208530
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Pierpont Syndrome
Short nose, High anterior hairline, Wide nose, Scoliosis, Hypoplastic areola, Wide intermamillary... OMIM:602342
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Low hanging columella, Patent foramen ovale, Abnormal vena cava morphology, Lumba... ORPHA:163956
Proteus Syndrome
Kyphoscoliosis, Venous malformation, Spinal canal stenosis, Lymphangioma, Splenomegaly, Depressed... OMIM:176920
Donnai-Barrow Syndrome
Short nose, Wide anterior fontanel, Omphalocele, Umbilical hernia, Ventricular septal defect, Wid... ORPHA:2143
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Anteverted nares, Scoliosis, Long eyelashes, Agenesis of corpus callos... OMIM:618577
Holoprosencephaly 2
Semilobar holoprosencephaly, Cyclopia, Proboscis, Single ventricle, Alobar holoprosencephaly, Ant... OMIM:157170
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Prominent nasal bridge, Overriding a... ORPHA:1110
Trisomy 18
Short nose, Cyclopia, Anencephaly, Choanal atresia, Spina bifida, Cryptorchidism, Omphalocele, Ho... ORPHA:3380
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Interrupted aortic arch, Facial palsy, Retinal coloboma, Coarctation of aorta OMIM:107550
8P23.1 Duplication Syndrome
Wide nose, Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defe... ORPHA:251076
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Encephalocele, Hydrocephalus, Adrenal hypoplasia, Thyroid hypoplasia, Abnormality of th... ORPHA:2166
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Hydrocephalus, Abnormal cardiac septum morphology, Scoliosis, Interrupted aortic... ORPHA:250989
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Abnormal intervertebral disk morphology, Hydrocephalus, Anteverted nares, Sparse scal... ORPHA:2701
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Aplasia of ... OMIM:184705
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Coarse hair, Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Anteverted nare... ORPHA:75389
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Patent ductus arteriosus, Hydrocephalus, Anteverted nares, Wide intermamillary distan... ORPHA:171839
Frontonasal Dysplasia 1
Coloboma, Bifid nasal tip, Anterior basal encephalocele, Broad nasal tip, Bifid nose, Agenesis of... OMIM:136760
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr... OMIM:605376
Smith-Lemli-Opitz Syndrome
Optic atrophy, Gastroschisis, Atrioventricular canal defect, Aganglionic megacolon, Hypopigmentat... ORPHA:818
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Hydranencephaly OMIM:617967
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Aganglionic megacolon, Ventricular septal defect, Abnormal autonomic nervous system p... OMIM:613870
Weiss-Kruszka Syndrome
Short nose, Highly arched eyebrow, Anteverted nares, Dextrotransposition of the great arteries, C... OMIM:618619
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Umbilical hernia, Central adrenal insufficiency, Ingu... ORPHA:672
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Thick hair, Scoliosis, Low posterior hairline, Kyphosis, Synophrys, Thick eyebrow ORPHA:2429
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Short neck, Holoprosencephaly, Hydranencephaly ORPHA:2570
Mandibuloacral Dysplasia With Type A Lipodystrophy
Absent eyelashes, Alopecia, Abnormal eyebrow morphology, Breast aplasia ORPHA:90153
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Maxillonasal Dysplasia, Binder Type
Short nose, Patchy distortion of vertebrae, Vertebral clefting, Depressed nasal bridge, Short col... OMIM:155050
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Alg3-Cdg
Abnormality of the nose, Neural tube defect, Abnormality of the endocrine system, Coarctation of ... ORPHA:79321
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Holoprosencephaly, Abnormal cerebral vascular morphology ORPHA:2165
20Q13.33 Microdeletion Syndrome
Sacral dimple, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac ventri... ORPHA:261311
Muscle-Eye-Brain Disease
Hydrocephalus, Optic atrophy, Holoprosencephaly, Meningocele ORPHA:588
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Optic nerve hypoplasia, Low posterior hairline, Wide intermamillary distan... OMIM:617506
Holoprosencephaly 9
Short nose, Decreased response to growth hormone stimulation test, Single naris, Anterior pituita... OMIM:610829
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Patent ductus arteriosus, Inguinal hernia, Highly arched eyebrow, Anteverted nares, S... OMIM:618454
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Teebi Hypertelorism Syndrome 1
Short nose, Aortic root aneurysm, Anteverted nares, Highly arched eyebrow, Omphalocele, Atrial se... OMIM:145420
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Muscular ventricular septal defect, Bilateral cryptorchidism, Hypothyroidism, Dila... ORPHA:66634
Hypoplastic Left Heart Syndrome
Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atr... ORPHA:2248
Giant Cell Arteritis
Optic atrophy, Mediastinal lymphadenopathy, Recurrent pharyngitis, Diabetes insipidus, Vasculitis... ORPHA:397
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Scoliosis, Depressed nas... ORPHA:1248
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Inguinal hernia, Highly arched eyebrow, Anteverted nares, Abnormal testis morphology,... ORPHA:96147
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Sacral dimple, Scoliosis, Unilateral breast hypoplasia, Choana... OMIM:300968
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Broad nasal tip, Holoprosencephaly, Depressed nasal bridge, Crypt... ORPHA:250999
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Arachnoid Cyst
Encephalocele, Abnormality of the endocrine system, Hydrocephalus, Sciatica, Facial palsy, Crania... ORPHA:2356
Hartsfield Syndrome
Lobar holoprosencephaly, Depressed nasal bridge, Encephalocele ORPHA:2117
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Myelomeningocele, Pu... ORPHA:1914
Mosaic Variegated Aneuploidy Syndrome
Wide nose, Abnormal aortic morphology, Depressed nasal ridge, Hypothyroidism, Coarctation of aort... ORPHA:1052
Limb-Mammary Syndrome
Breast aplasia, Alopecia, Hypoplastic nipples, Absent nipple, Bilateral breast hypoplasia, Sparse... ORPHA:69085
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Horizontal eyebrow, ... ORPHA:369891
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Hypopigmentation of hair, Depressed nasal ridge ORPHA:1355
Frank-Ter Haar Syndrome
Kyphoscoliosis, Anteverted nares, Patent foramen ovale, Wide anterior fontanel, Kyphosis, Secundu... OMIM:249420
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Inguinal hernia, Highly arched eyebrow, Hypoplastic nipples,... OMIM:280000
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Sacral dimple, Inguinal hernia, Bilateral cryptorchidism, Prominent nasal bridge, Bro... OMIM:613544
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Medial flaring of the eyebrow, Aortic root aneurysm, Scoliosis, Kyphosis, ... OMIM:617602
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Frontal upsweep of hair, Scoliosis, Hirsutism, Ventricular septal defect, Kyphosis, S... OMIM:617061
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Anteverted nares, Wide anterior fontanel, Ventricular septal defect, Wid... OMIM:616920
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Abnormality of the autonomic nervous... OMIM:611376
Acromicric Dysplasia
Short nose, Decreased nerve conduction velocity, Anteverted nares, Long eyelashes, Abnormal eyebr... ORPHA:969
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Per... OMIM:218000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Butterfly... OMIM:265380
Microphthalmia, Syndromic 2
Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Mitral valve prolapse, Umbilical herni... OMIM:300166
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Splenomegaly, Lateral ventricle dilatation, Inguinal hernia, Dia... OMIM:619534
Distal Triplication 15Q
Hypoplastic aortic arch, Hydrocephalus, Scoliosis, Kyphosis, Abnormal heart morphology, Patent du... ORPHA:314588
Intellectual Developmental Disorder, X-Linked 91
Short nose, Low posterior hairline OMIM:300577
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Short nose, Ventricular septal defect OMIM:618506
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Vascular dilatation, Wide nose, Anteverted nares, Dysplastic sacrum, Severe platyspon... OMIM:613320
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Short nose, Scoliosis, Distichiasis, Kyphosis ORPHA:2598
Codas Syndrome
Short nose, Midline defect of the nose, Abnormal form of the vertebral bodies, Anteverted nares, ... ORPHA:1458
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Inguinal hernia, Wide anterior fontanel, Scoliosis, Kyphosis,... OMIM:278250
Lethal Osteosclerotic Bone Dysplasia
Short nose, Anteverted nares, Short neck, Depressed nasal ridge ORPHA:1832
Fumarase Deficiency
Optic atrophy, Perimembranous ventricular septal defect, Anteverted nares, Agenesis of corpus cal... OMIM:606812
Smith-Lemli-Opitz Syndrome
Sacral dimple, Aganglionic megacolon, Hydrocephalus, Anteverted nares, Hypertrophic cardiomyopath... OMIM:270400
You-Hoover-Fong Syndrome
Kyphoscoliosis, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Meckel Syndrome 14
Occipital encephalocele, Anteverted nares, Holoprosencephaly, Short neck, Single ventricle OMIM:619879
Kleefstra Syndrome
Short nose, Highly arched eyebrow, Anteverted nares, Scoliosis, Cryptorchidism, Pulmonary artery ... ORPHA:261494
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Scoliosis, Anterior pituitary hypoplasia, Ventricular septal defect, Kyphosis,... ORPHA:464306
Acrocephalopolydactyly
Short nose, Hepatosplenomegaly, Short neck, Depressed nasal ridge ORPHA:221054
Harel-Yoon Syndrome
Optic atrophy, Short nose, Peripheral axonal neuropathy, Scoliosis, Hypertrophic cardiomyopathy OMIM:617183
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Coloboma, Patent foramen ovale, Cryptorchidism, Short neck, ... OMIM:616789
Odontochondrodysplasia
Short nose, Scoliosis, Patent ductus arteriosus, Platyspondyly, Depressed nasal bridge ORPHA:166272
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Lowry-Maclean Syndrome
Short nose, Atrioventricular canal defect, Inguinal hernia, Hydrocephalus, Generalized hypertrich... ORPHA:2409
Toriello-Carey Syndrome
Short nose, Aganglionic megacolon, Wide anterior fontanel, Cardiomyopathy, Pulmonic stenosis, Coa... ORPHA:3338
De Barsy Syndrome
Kyphoscoliosis, Hypoplastic aortic arch, Inguinal hernia, Prominent veins on trunk, Cryptorchidis... ORPHA:2962
Glossopharyngeal Neuralgia
Vascular dilatation, Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwa... ORPHA:221098
Isolated Exencephaly
Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of the frontal bone, Holoprosencepha... ORPHA:563612
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Aortic root aneurysm, Scoliosis, Secundum atrial septal defe... OMIM:619910
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Low posterior hairline ORPHA:1450
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Short nose, Facial hirsutism, Narrow nasal bridge, Low hanging columella, Antevert... OMIM:619383
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Short nose, Slender nose, Scoliosis, Decreased motor nerve conduction velocity, Cr... OMIM:615419
Parkes Weber Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... ORPHA:90307
Down Syndrome
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Aganglionic megacolon, ... OMIM:190685
Diabetes Insipidus, Neurohypophyseal
Short nose, Central diabetes insipidus, Wide nose, Decreased circulating osteocalcin level OMIM:125700
Aymé-Gripp Syndrome
Short nose, Breast hypoplasia, Inguinal hernia, Hydrocephalus, Scoliosis, Sparse scalp hair, Long... ORPHA:1272
Baker-Gordon Syndrome
Scoliosis, Short nose, Prominent nasal tip OMIM:618218
Intellectual Disability-Strabismus Syndrome
Short nose, Decreased response to growth hormone stimulation test, Decreased serum insulin-like g... ORPHA:363528
Craniofrontonasal Syndrome
Breast hypoplasia, Hypoplastic nasal tip, Scoliosis, Bifid nasal tip, Unilateral breast hypoplasi... OMIM:304110
Proboscis Lateralis
Cyclopia, Single naris, Proboscis, Optic nerve hypoplasia, Choanal atresia, Abnormal eyebrow morp... ORPHA:141099
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Anteverted nares, Prominent nasal tip, Right aortic arch, Sparse lateral eyebrow, Pineal cyst, Ve... ORPHA:513456
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Short nose, Optic atrophy, Optic nerve hypoplasia, Scoliosis, Peripheral axonal ... ORPHA:496790
Stickler Syndrome Type 1
Platyspondyly, Short nose, Abnormal vertebral epiphysis morphology, Mitral valve prolapse ORPHA:90653
Carpenter Syndrome 1
Optic atrophy, Sacral dimple, Transposition of the great arteries, Patent ductus arteriosus, Spin... OMIM:201000
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Short nose, Highly arched eyebrow, Anteverted nares, Scoliosis, Hirs... OMIM:301044
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Abnormality of the spleen, Agenesis of corpus callosum, Atrial septal defect,... ORPHA:2538
Chops Syndrome
Optic atrophy, Short nose, Cervical C2/C3 vertebral fusion, Thick hair, Anteverted nares, Patent ... OMIM:616368
17P13.3 Microduplication Syndrome
Inguinal hernia, Short nose, Short neck, Wide nose ORPHA:217385
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Breast aplasia ORPHA:2554
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Cryptorchidism, Ventricular septal defect, Optic disc pallor OMIM:617201
Coffin-Siris Syndrome
Wide nasal base, Abnormal heart morphology, Anteverted nares, Scoliosis, Hirsutism, Broad nasal t... ORPHA:1465
Donnai-Barrow Syndrome
Short nose, Wide anterior fontanel, Omphalocele, Broad nasal tip, Agenesis of corpus callosum, Um... OMIM:222448
Congenital Disorder Of Glycosylation, Type Il
Short nose, Kyphosis, Wide intermamillary distance, Pericardial effusion, Splenomegaly, Inverted ... OMIM:608776
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Robinow Syndrome, Autosomal Dominant 3
Short nose, Sacral dimple, Anteverted nares, Scoliosis, Patent foramen ovale, Pulmonary artery at... OMIM:616894
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Hydrocephalus, Arteriovenous fistula, Abnormality of the lymphatic sy... ORPHA:137667
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Sacral dimple, Abnormal vertebral morphology, Atrioventricul... OMIM:314390
Distal Duplication 18Q
Short nose, Progressive intervertebral space narrowing, Anteverted nares, Choanal atresia, Promin... ORPHA:1716
Meckel Syndrome, Type 8
Occipital encephalocele, Short nose, Encephalocele, Depressed nasal ridge, Pericardial effusion, ... OMIM:613885
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Ventricular septal defect, Retinal coloboma, Tetralogy of Fallot, Pat... ORPHA:2328
Peho-Like Syndrome
Optic atrophy, Short nose OMIM:617507
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Wide anterior fontanel, Scoliosis, Patent foramen ovale, Abnormal heart morphology, L... ORPHA:457279
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Pro... ORPHA:97289
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Adrenal hypoplasia, Depressed nasal tip, Wide intermamillary distance, Holoprosenc... OMIM:612651
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Anteverted nares, Wide anterior fontanel, Cardiomyopathy, Agenesis of corpus callosum... OMIM:217980
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Aplasia of the epiglottis, Retinal coloboma, Cryptorchidism, Holoprosenc... OMIM:615948
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Decreased response to growth hormone stimulation test, Ventricular septal defect, Hyp... OMIM:614114
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Galactorrhea, ... ORPHA:251623
Craniodigital-Intellectual Disability Syndrome
Short nose, Thick hair, Spina bifida occulta, Narrow nasal bridge, Long eyelashes, Thick eyebrow,... ORPHA:1514
Ring Chromosome 12 Syndrome
Breast hypoplasia, Hirsutism, Dystrophic toenail, Hypothyroidism, Secundum atrial septal defect, ... ORPHA:1439
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Anteverted nares, Hemiverte... ORPHA:1780
Jacobsen Syndrome
Short nose, Annular pancreas, Inguinal hernia, Abnormal form of the vertebral bodies, Anteverted ... ORPHA:2308
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Short nose, Depressed nasal bridge ORPHA:438178
Cardiac-Urogenital Syndrome
Mesocardia, Patent urachus, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... OMIM:618280
Miller-Dieker Syndrome
Short nose, Anteverted nares, Sacral dimple, Omphalocele ORPHA:531
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Short nose, Nail dystrophy, Trichorrhexis nodosa, Brittle hair, Anteverted nares, ... OMIM:234050
Foxp1 Syndrome
Short nose, Hypothyroidism, Abnormal heart morphology, Broad nasal tip, Recurrent upper respirato... ORPHA:391372
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Waardenburg Syndrome Type 1
Premature graying of hair, Short nose, Aganglionic megacolon, Hypopigmentation of hair, Meningoce... ORPHA:894
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Inguinal hernia, Hydrocephalus, Anteverted nares, Scoliosis, Optic nerve... ORPHA:457284
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Short nose, Kyphoscoliosis, Cryptorchidism, Omphalocele, Aplasia of t... OMIM:618820
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Perimembranous ventricular septal defect, Fused cervical vertebrae, Cholelithiasis, ... ORPHA:83617
Scalp-Ear-Nipple Syndrome
Aplasia/Hypoplasia of the nipples, Type I diabetes mellitus, Sparse hair, Breast aplasia ORPHA:2036
Becker Nevus Syndrome
Unilateral breast hypoplasia, Scoliosis, Hemivertebrae OMIM:604919
Autosomal Recessive Robinow Syndrome
Short nose, Sacral dimple, Abnormal tricuspid valve morphology, Inguinal hernia, Abnormal pulmona... ORPHA:1507
Marshall-Smith Syndrome
Kyphoscoliosis, Highly arched eyebrow, Optic nerve hypoplasia, Kyphosis, Sparse hair, Umbilical h... OMIM:602535
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Low posterior hairline, Wide intermamillary distance, Recurrent sinusitis,... OMIM:213980
Holoprosencephaly 3
Abnormality of the nose, Central diabetes insipidus, Cyclopia, Single naris, Proboscis, Holoprose... OMIM:142945
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Short nose, Beaking of vertebral bodies, Congenital kyphoscoliosis, Hydrocephalus... ORPHA:536467
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Short nose, Wide nose, Patent foramen ovale, Right ventricular hypertrophy, Atrial... OMIM:614261
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Short nose, Optic atrophy, Inguin... OMIM:613457
Perlman Syndrome
Short nose, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Anteverted nares, Cr... ORPHA:2849
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Scoliosis, Hemivertebrae, Vertebral hy... OMIM:164210
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Sacral dimple, Abnormal form of the vertebral bodies, Highly arched eyebrow, Antevert... ORPHA:1327
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prola... ORPHA:91355
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Low hanging columella, Coloboma, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Ao... ORPHA:353281
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Anteverted nares, Wide anterior fontanel, Thoracic kyphosis, Anisospondyly, Ovoid ver... ORPHA:163649
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Recurrent... OMIM:615067
Trisomy 20P
Abnormal form of the vertebral bodies, Highly arched eyebrow, Abnormal autonomic nervous system p... ORPHA:261318
Ring Chromosome 7 Syndrome
Short nose, Situs inversus totalis, Highly arched eyebrow, Anteverted nares, Prominent nasal brid... ORPHA:1449
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Short nose, Scoliosis, Patent foramen ovale, Prominent nasal bridge, ... OMIM:619179
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Abnormal aortic arch morphology, Wide intermamillary distance, Large placenta, An... ORPHA:96334
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Abnormal aortic arch morphology, Cryptorchidism, Co... ORPHA:1596
Robinow Syndrome
Kyphoscoliosis, Short nose, Fused thoracic vertebrae, Tricuspid atresia, Pulmonary valve atresia,... ORPHA:97360
Ververi-Brady Syndrome
Transposition of the great arteries, Wide nose, Scoliosis, Broad nasal tip, Prominent nose, Bulbo... OMIM:617982
Holt-Oram Syndrome
Abnormal coronary artery origin, Cervical C2/C3 vertebral fusion, Pulmonic stenosis, Mitral valve... OMIM:142900
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Short nose, Anteverted nares, Cardiomyopathy, Wide nasal bridge, Optic disc pallor OMIM:618437
Trigonocephaly 1
Short nose, Lumbar hemivertebrae, Omphalocele, Synophrys, Wide nasal bridge OMIM:190440
C Syndrome
Short nose, Anteverted nares, Scoliosis, Cryptorchidism, Omphalocele, Patent ductus arteriosus, V... OMIM:211750
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Holoprosencephaly ORPHA:2163
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Sacral dimple, Highly arched eyebrow, Optic nerve hypoplasia, Long eyelashes, Synophr... OMIM:618828
Achondrogenesis
Short nose, Inguinal hernia, Anteverted nares, Umbilical hernia, Short neck ORPHA:932
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Sparse hair, Reduced circulating growth hormone concentration, Multiple muscul... OMIM:615508
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Kyphosis, Low posterior hairline, Wide intermamillary distance,... ORPHA:2983
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Optic nerve hypoplasia, Pulmonic stenosis, Aortic valve stenosis, Hypogonadism, C... ORPHA:536471
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Inguinal hernia, Aortic aneurysm, Peripheral axonal neuropathy, Thoracic kyp... ORPHA:1900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Cardiomegaly, Anteverted nares, Hypertrophic cardiomyopathy, Platyspondyly, Short nec... OMIM:616897
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus, Scoliosis, Omphalocele, Abnormal pericardium morpholog... ORPHA:1335
Down Syndrome
Delayed puberty, Short nose, Atrioventricular canal defect, Aganglionic megacolon, Abnormality of... ORPHA:870
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Pancreatic aplasia, Abnormal external nose morphology, Holoprosencep... ORPHA:556955
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Encephalocele, Absent eyelashes, Absent eyebrow, Convex nasal ridge OMIM:200130
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Short nose, Myocarditis, Vascular dilatation, Inguinal hernia... ORPHA:3342
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Double outlet right ventricle, Atrial septal defect, Neon... ORPHA:1667
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Hyperlordosis, Myelomeningocele, Spina bifida, Omphalo... ORPHA:63259
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Short nose, Scoliosis OMIM:615042
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short nose, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamart... OMIM:241800
Fg Syndrome Type 1
Frontal upsweep of hair, Sacral dimple, Small pituitary gland, Inguinal hernia, Hydrocephalus, Op... ORPHA:93932
Dermotrichic Syndrome
Short nose, Nail dystrophy, Abnormal vertebral morphology, Aganglionic megacolon, Depressed nasal... ORPHA:99688
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Short nose, Delayed puberty, Wide nose, Anteverted nares, Scoliosis, Synophrys, H... ORPHA:391408
Giant Axonal Neuropathy
Pili canaliculi, Scoliosis, Facial palsy, Abnormal pituitary gland morphology, Diffuse axonal swe... ORPHA:643
Aarskog-Scott Syndrome
Delayed puberty, Short nose, Inguinal hernia, Anteverted nares, Scoliosis, Testicular atrophy, Bi... OMIM:305400
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology, Synophrys DECIPHER:52
Kaufman Oculocerebrofacial Syndrome
Short nose, Anteverted nares, Optic disc pallor, Coarctation of aorta, Ovoid vertebral bodies, Sp... OMIM:244450
Potocki-Shaffer Syndrome
Sparse lateral eyebrow, Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Delayed menarche, Testicular atrophy, Female hypogonadism, Gonadotropin deficien... ORPHA:52901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Scoliosis, Retinal coloboma, Horizontal eyebrow, Abnormal heart morphology, Short nec... OMIM:618571
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Hypoplastic vertebral bodies OMIM:601370
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus,... ORPHA:2184
Chung-Jansen Syndrome
Short nose, Anteverted nares, Synophrys, Thick eyebrow, Cryptorchidism OMIM:617991
Distal Deletion 10Q
Short nose, Spina bifida occulta, Facial diplegia, Prominent nasal bridge, Lateral ventricle dila... ORPHA:96148
16P12.1P12.3 Triplication Syndrome
Short nose, Decreased response to growth hormone stimulation test, Abnormal tricuspid valve morph... ORPHA:485405
Methimazole Embryofetopathy
Abnormal aortic morphology, Choanal atresia, Hypothyroidism, Coarctation of aorta, Abnormality of... ORPHA:1923
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Scoliosis, Thoracic kyphosis, Long eyelashes, Synophrys, Agenesis of corpus callosum,... OMIM:620250
Holoprosencephaly 1
Cyclopia, Proboscis, Single ventricle, Alobar holoprosencephaly, Diabetes insipidus, Adrenal hypo... OMIM:236100
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Short nose, Medial flaring of the eyebrow, Hydrocephalus, Scoliosis, Long eyelashe... OMIM:619833
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Red hair, Anteverted nares, Congenital hypothyroidism, Cryptorchidism, Spinal canal s... OMIM:614613
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Abnormal vertebral morphology, Atrioventricular canal ... ORPHA:210122
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency