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Gene: Ptk7 MGI:1918711

Gene Summary

Name:

PTK7 protein tyrosine kinase 7

Synonyms:

8430404F20Rik, mPTK7/CCK4, chz

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased total body fat amount	Ptk7^chz	HET	Early adult	5.49×10^-05
abnormal response to new environment	Ptk7^chz	HET	Early adult	4.95×10^-05
preweaning lethality, complete penetrance	Ptk7^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	50% (1 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	0.0% (0 of 2)
Oral epithelium	Wholemount images	heterozygote	50% (1 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	50% (1 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
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)
Esophagus	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)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Pancreas	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	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	100% (1 of 1)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	100% (1 of 1)
Footplate	N/A	heterozygote	100% (1 of 1)
Footplate	N/A	homozygote	100% (1 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	100% (1 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	100% (1 of 1)
Handplate	N/A	heterozygote	100% (1 of 1)
Handplate	N/A	homozygote	100% (1 of 1)
Head	N/A	heterozygote	100% (1 of 1)
Head	N/A	homozygote	100% (1 of 1)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	100% (1 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	100% (1 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	100% (1 of 1)
Tail somite	N/A	homozygote	100% (1 of 1)
Tail	N/A	heterozygote	100% (1 of 1)
Tail	N/A	homozygote	100% (1 of 1)

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%
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%
esophagus	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%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
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%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

MicroCT E18.5

Embryo reconstruction

4 Images

View images

Adult LacZ

LacZ Images Wholemount

16 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Human diseases caused by Ptk7 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.

Human diseases associated with Ptk7 (0 diseases)
Human diseases predicted to be associated with Ptk7 (1743 diseases)

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

The table below shows human diseases predicted to be associated to Ptk7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Abnormal heart morphology, Uppe...	ORPHA:294975
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino...	ORPHA:85174
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon...	ORPHA:2876
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Low-set, posteriorly rotated ...	ORPHA:2311
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Prominent nasal bridge, Urinary incontinence, Single transverse palmar...	OMIM:617927
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Dermatoglyphic r...	OMIM:211960
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased...	OMIM:613630
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement ...	ORPHA:93267
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig...	OMIM:618845
Caudal Duplication	Omphalocele, Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/apla...	ORPHA:1756
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ...	OMIM:618142
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast...	ORPHA:2476
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Bilateral single transverse palmar creases, Congenital diaphragmatic herni...	ORPHA:1120
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Fetal Minoxidil Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Clinodactyly of the 5th finger, ...	ORPHA:1918
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio...	OMIM:231060
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormal lung lobation, Hol...	ORPHA:945
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, Spina bifida occulta, Posterolateral diaphragmatic...	ORPHA:2437
Miller-Dieker Syndrome	Omphalocele, Sacral dimple, Anteverted nares, Clinodactyly of the 5th finger, Nephropathy, Short ...	ORPHA:531
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho...	ORPHA:1797
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum mo...	ORPHA:2345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Synophrys, Atrial septal defect, Pulmonary artery atresia, Patent foramen...	OMIM:618316
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Basal Cell Nevus Syndrome 1	Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Spina...	OMIM:109400
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the phalanges of the hand,...	ORPHA:2990
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Missing ribs, Microgn...	OMIM:220210
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co...	ORPHA:1988
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Marfan Syndrome	Limited elbow movement, Pectus carinatum, Emphysema, Arachnodactyly, Dilatation of an abdominal a...	ORPHA:558
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial po...	OMIM:617895
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocard...	OMIM:613686
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, H...	OMIM:601357
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Synophrys, Hemivertebrae, Narrow chest, Atri...	OMIM:213980
Pentalogy Of Cantrell	Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita...	ORPHA:1335
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Posterior rib fusion, Atri...	OMIM:265380
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Micrognathia, Postaxial...	OMIM:617866
C Syndrome	Omphalocele, Short metacarpal, Toe syndactyly, Ventricular septal defect, Anteverted nares, Micro...	OMIM:211750
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Kyp...	OMIM:614815
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of...	OMIM:601389
Verheij Syndrome	Branchial cyst, Vertebral fusion, Anteverted nares, Ventricular septal defect, Renal agenesis, Br...	OMIM:615583
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Hemivert...	OMIM:173800
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Meckel Syndrome, Type 2	Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short neck, Short nose, Abnormal vertebral morphology	ORPHA:2015
Trisomy 1Q	Microretrognathia, Omphalocele, Wide nose, Multicystic kidney dysplasia, Ventricular septal defec...	ORPHA:261344
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat...	OMIM:155050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Kagami-Ogata Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Long clavicles, Ventricular septal defect, Di...	OMIM:608149
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Sacral dimple, Scapular winging, Depressed nasal bridge, An...	ORPHA:1327
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pect...	ORPHA:3268
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Patent ductus ...	OMIM:179613
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert...	OMIM:608681
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Bowing of the long bones, Micr...	ORPHA:2484
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n...	OMIM:236500
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Short ne...	OMIM:263210
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal...	ORPHA:1926
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper...	ORPHA:64755
Schisis Association	Omphalocele, Encephalocele, Renal agenesis, Congenital diaphragmatic hernia, Micromelia, Spina bi...	ORPHA:63862
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Recurrent respiratory infections, Vertebral fusion, Block vertebrae, Abnormal odontoid...	OMIM:277300
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Renal cyst,...	ORPHA:1692
Autosomal Recessive Robinow Syndrome	Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid valve morphology,...	ORPHA:1507
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Malar...	ORPHA:217340
Chromosome 9P Deletion Syndrome	Short neck, Micrognathia, Atrial septal defect, Micropenis, Long toe, Depressed nasal bridge, Ant...	OMIM:158170
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Abnormal cardiac s...	ORPHA:2370
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Hernia o...	ORPHA:1277
Limb Body Wall Complex	Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o...	ORPHA:2369
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Ventric...	ORPHA:1908
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Epicanthus, Short neck, Synophrys, Rib fusion, Hemivertebrae, ...	ORPHA:1394
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Marfan Syndrome	Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contracture, Pectus carinatu...	OMIM:154700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Aqueductal s...	ORPHA:3035
Meester-Loeys Syndrome	Arachnodactyly, Mitral valve prolapse, Cervical spine instability, Ascending tubular aorta aneury...	OMIM:300989
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Bicuspid aortic valve, Anteverted nares, Broad hallux, Broad nasal t...	OMIM:618529
Aicardi Syndrome	Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Hiatus hernia, Recurren...	OMIM:304050
Constricting Bands, Congenital	Encephalocele, Syndactyly, Omphalocele, Abnormal lung lobation, Abnormal rib cage morphology, Eye...	OMIM:217100
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morpholog...	ORPHA:887
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora...	OMIM:228520
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora...	OMIM:615633
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia, Renal hypop...	ORPHA:1834
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ...	OMIM:269860
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi...	ORPHA:1166
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Arachnodactyly, Abnormal pinna morphology, Congenital diaphragmatic hernia, Arte...	OMIM:614437
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, P...	OMIM:192350
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers...	OMIM:617022
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Depressed nasal ridge, ...	OMIM:613885
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Cloacal Exstrophy	Omphalocele, Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/apl...	ORPHA:93929
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Posteriorl...	OMIM:264480
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Mult...	ORPHA:2092
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arachnodactyly, Arterial tortuosity, Descending thoracic aorta aneurysm, P...	OMIM:609192
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis	OMIM:614464
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphol...	ORPHA:371428
Fetal Valproate Spectrum Disorder	Omphalocele, Short nose, Depressed nasal ridge	ORPHA:1906
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve...	OMIM:618961
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep...	ORPHA:2831
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Multiple renal cysts, Absent or m...	ORPHA:66637
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Intellectual Developmental Disorder, X-Linked 91	Clinodactyly, Small hand, Short foot, Short 5th finger, Cubitus valgus, Short nose	OMIM:300577
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Hypospadias, Broad hallux, 1-3 toe syndactyly, Preaxial ha...	OMIM:175700
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, H...	ORPHA:261318
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal d...	OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thora...	ORPHA:508498
Trigonocephaly 1	Omphalocele, Long penis, Wide nasal bridge, Lumbar hemivertebrae, Short nose	OMIM:190440
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a...	OMIM:306955
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Scoliosis...	ORPHA:1937
Iniencephaly	Omphalocele, Encephalocele, Rhizomelia, Renal agenesis, Congenital diaphragmatic hernia, Hyperlor...	ORPHA:63259
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus ar...	ORPHA:261120
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ...	ORPHA:2143
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Synophrys, Abnormal lung lobation, Atrial septal defect, Clinodactyly of t...	OMIM:607872
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos...	OMIM:615996
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Vesicoureteral reflux, Pulmonary artery atresi...	OMIM:616894
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Prominent nose, Short neck, Microgna...	OMIM:609625
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Mi...	OMIM:145420
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Short tibia, Micr...	OMIM:616300
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Single transverse palmar crease, Micrognathia, Patent ductus arteriosus, Wide n...	ORPHA:3304
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol...	OMIM:615503
Orofaciodigital Syndrome Xvii	Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Central Y-shaped metacarpal, ...	OMIM:617926
Ring Chromosome 8 Syndrome	Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis	ORPHA:1450
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Clino...	OMIM:601163
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Rhiny	Short nose, Anteverted nares, Inguinal hernia	OMIM:180360
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Finger clinodactyly, En...	ORPHA:99776
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Tethered cord, Mitral atresia, Hearing impairment, Patent ductus arteriosus, Clinodac...	OMIM:618164
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Truncus arteriosus, Prominent nasal bridge...	ORPHA:401935
Distal Duplication 15Q	Omphalocele, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short...	ORPHA:1707
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Wide nasal bridge	ORPHA:3366
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Hydroc...	OMIM:241800
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial devia...	ORPHA:1388
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentation defect, C...	OMIM:611209
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kypho...	OMIM:603387
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology...	ORPHA:1919
Meckel Syndrome, Type 10	Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Abnormal pinna morphology, Sacr...	OMIM:614175
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Micromelia, Short neck, Aplastic clavicle, Congenital diaphragmatic herni...	OMIM:616546
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Knee flexion contracture, Atrial septal defect, Broad hallux, Tapere...	ORPHA:435638
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Micropha...	OMIM:618454
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, ...	ORPHA:171839
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Atrial septal defect, Clinodactyly of the 5th finger, Con...	OMIM:257920
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Small hand, Abnormal fe...	ORPHA:969
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Depressed nasal bridge, Rhizomelia, Short neck, Micrognathia, Kyphosis, Abnormalit...	ORPHA:3098
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Inguinal hernia, Flexion contracture of finger, Depressed nasal bridge, An...	ORPHA:254528
Triploidy	Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Short neck, Hydro...	ORPHA:3376
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Fetal Trimethadione Syndrome	Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Transposition of th...	ORPHA:1913
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus	OMIM:258320
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr...	ORPHA:185
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing r...	ORPHA:3186
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hearing abnormality, Postaxial hand polydacty...	ORPHA:2935
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Cli...	ORPHA:2209
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Upslanted p...	OMIM:615761
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Hypoplasia of th...	OMIM:136760
Biemond Syndrome Type 2	Preaxial polydactyly, Hydrocephalus, Hypospadias	ORPHA:141333
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Omphalocele, Spina bifida, Congenital diaphragmatic ...	ORPHA:991
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Post...	ORPHA:83473
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly,...	OMIM:601355
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Anteverted nares, Preaxial hand polydactyly, Duplication o...	OMIM:263630
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog...	ORPHA:254534
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Aicardi Syndrome	Block vertebrae, Missing ribs, Hiatus hernia, Optic disc coloboma, Rib fusion, Optic atrophy, Sma...	ORPHA:50
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Conductive hearing impairment, Sensorineural heari...	ORPHA:261197
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Cervical cord compression, A...	ORPHA:79345
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Depressed na...	ORPHA:1458
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, C...	OMIM:613091
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnor...	ORPHA:2021
3C Syndrome	Hypoplasia of penis, Short neck, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology...	ORPHA:7
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent...	OMIM:313850
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip...	OMIM:601927
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves...	OMIM:617271
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Abnormal aortic ...	ORPHA:96334
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Micrognathia, Kyphosis, My...	ORPHA:1393
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, Inguinal hernia, Congenital hip dislocation, Short neck, Clinodac...	ORPHA:217385
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Pectus carinatum, Right ventricular dilatation, ...	OMIM:619472
Acrocephalopolydactyly	Short neck, Abnormal renal morphology, Depressed nasal ridge, Short long bone, Limb undergrowth, ...	ORPHA:221054
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren...	OMIM:615993
Trisomy 18	Congenital diaphragmatic hernia, Holoprosencephaly, Hernia, Atrial septal defect, Bilateral singl...	ORPHA:3380
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Distal shortening of limbs, Syndactyly,...	OMIM:146510
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Downslanted palpebral fissures, Postaxial pol...	OMIM:612913
Omphalocele	Omphalocele	ORPHA:660
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal atrial arra...	ORPHA:244
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Humeroradial s...	OMIM:134780
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Atrial septal defect, Atrioventricular c...	OMIM:600373
Hadziselimovic Syndrome	Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Low-set...	OMIM:612946
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Inguinal hernia, Postaxial hand polydactyly, Recurrent upper re...	OMIM:300209
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Anteverted nares, Single ...	OMIM:247200
Joubert Syndrome 14	Encephalocele, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Highly arched eye...	OMIM:614424
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Distal Duplication 18Q	Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progr...	ORPHA:1716
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, P...	OMIM:301056
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M...	OMIM:612651
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital...	ORPHA:397715
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Abnormal nasal morphology, Deviation of finger, Vertebral segmenta...	ORPHA:1104
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ...	OMIM:222448
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo...	OMIM:618254
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Telecanthus, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Sh...	OMIM:617102
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Mandibular aplasia, Short nose...	ORPHA:1832
Sonoda Syndrome	Ventricular septal defect, High axial triradius, Depressed nasal bridge	OMIM:270460
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly	OMIM:607539
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Abnormal pinna mo...	ORPHA:477817
Achondrogenesis Type 1B	Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Short neck, Abnormal rib morphology, ...	ORPHA:93298
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ridge, Metaphys...	OMIM:300863
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con...	ORPHA:373
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Short thumb, Capitate-hamat...	OMIM:102510
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Myelomening...	ORPHA:1914
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hip dysplasia, Scoliosis, Short nose	OMIM:618379
1P36 Deletion Syndrome	Conductive hearing impairment, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears,...	ORPHA:1606
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Synophrys, Abnormal form of the vertebral bodies, Ho...	ORPHA:2162
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A...	OMIM:611134
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Desbuquois Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Short neck, Camptodactyly of...	ORPHA:1425
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Kyphosi...	ORPHA:2075
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Inguinal hernia, Prominent nasal bridge, Single transverse palmar crease, Short ne...	OMIM:613544
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Synophrys, Distal widening of metacarpals...	OMIM:602535
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Short neck, S...	ORPHA:93299
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Hiatus hernia, Pectus excavatum, Vertebral artery tortuosity, Celiac ...	OMIM:619329
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands, Scoliosis, Broad nasal tip	ORPHA:85287
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac...	ORPHA:391646
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Atrial septal defect, Broad ribs,...	OMIM:300373
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Inguinal hernia, Dilation of Virchow-Robin spaces, Sparse eyelashes, Tapered toe,...	ORPHA:544488
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Intellectual Disability, Wolff Type	Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Bulbous nose, Wide nasa...	ORPHA:3080
Yuan-Harel-Lupski Syndrome	Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Decreased nerve conduct...	OMIM:616652
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Abnormality of the urinary system, Scoliosis, Short nose, C...	ORPHA:1695
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Congenital diaphragmati...	ORPHA:2059
Orofaciodigital Syndrome Vi	Tibial bowing, Conductive hearing impairment, Central Y-shaped metacarpal, Low-set ears, Occipita...	OMIM:277170
Kbg Syndrome	Single transverse palmar crease, Short neck, Synophrys, Protruding ear, Thoracic kyphosis, Short ...	OMIM:148050
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Sacral dimple, Overlapping toe, Highly arched eyebrow, Tapered finger, Postaxial poly...	OMIM:613792
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Kyphoscoliosis, Patent ductus arteriosus, Postaxia...	ORPHA:65759
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia, Depressed nasal bridge	OMIM:275100
Joubert Syndrome 16	Encephalocele, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl...	OMIM:615994
Orofaciodigital Syndrome V	Unilateral ptosis, Recurrent respiratory infections, Ventricular septal defect, Aganglionic megac...	OMIM:174300
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,...	OMIM:614120
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Short neck, Knee flexion contracture, Short palm, Long hallux, Depre...	OMIM:613776
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Ab...	ORPHA:163966
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel...	ORPHA:2378
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate...	ORPHA:1200
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Dumbbell-shaped l...	OMIM:269250
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly	OMIM:615982
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Hyd...	OMIM:182940
Joubert Syndrome 10	Low-set ears, Epicanthus, Downslanted palpebral fissures, Postaxial polydactyly	OMIM:300804
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di...	ORPHA:99106
Fountain Syndrome	Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl...	ORPHA:3219
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper...	ORPHA:2145
Vacterl With Hydrocephalus	Absence of the sacrum, Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Micrognathi...	ORPHA:3412
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Bifid nasal tip, Vertebral ...	OMIM:616854
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening,...	OMIM:615984
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Congenital hip dislocation, Pate...	ORPHA:2412
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first rib...	OMIM:161200
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphos...	ORPHA:3121
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Ventricular septal defect, Scoliosis, Micrognathia	OMIM:615731
Meckel Syndrome 13	Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Epicanthus, Hypoplastic scapulae, Brachydactyly, Bowing of the long bones, Micromelia...	OMIM:614091
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micro...	ORPHA:2166
Trisomy 4P	Depressed nasal bridge, Camptodactyly of finger, Hypospadias, Short neck, Carious teeth, Preaxial...	ORPHA:1738
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot, Hyd...	ORPHA:251076
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Epicanthus, Optic disc pallor, Ventricular septal defect, Singl...	OMIM:618950
Intellectual Developmental Disorder, Autosomal Recessive 73	Epicanthus, Ventricular septal defect, Single transverse palmar crease, Posteriorly rotated ears,...	OMIM:619717
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Dep...	OMIM:608022
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Bilateral ptosis, Kyphos...	ORPHA:404440
Tarp Syndrome	Single transverse palmar crease, Atrial septal defect, Small earlobe, Low-set, posteriorly rotate...	ORPHA:2886
Tarp Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact...	OMIM:311900
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:2184
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Achondrogenesis	Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Short neck, Umbilical hernia, Short ...	ORPHA:932
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgene...	ORPHA:3033
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ...	OMIM:252100
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous nose, Patent ductus ar...	OMIM:613870
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Short neck, Beaded ribs, Micrognathia, Flexion contracture, Micropenis, Anteverted ...	OMIM:616897
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Enlarged thorax, Atriov...	ORPHA:251071
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Protruding ear, ...	OMIM:619534
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Broad hallux pha...	ORPHA:2308
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Depres...	ORPHA:2256
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyly, Tapered f...	OMIM:619721
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent te...	OMIM:618506
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa...	OMIM:618870
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney...	ORPHA:1519
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose, Carious teeth, Radioulnar s...	ORPHA:3270
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F...	OMIM:615542
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Scoliosis, D...	OMIM:616362
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perim...	OMIM:617877
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Pear-shaped nose, Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Knee fl...	OMIM:606242
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Clinodactyly, Wide n...	OMIM:618577
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the...	ORPHA:175
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Cervical kyphosis, Rhizomeli...	OMIM:108721
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Prominent nasal bridge, Kyphoscoliosis, Micrognathia, Short neck, Underdeveloped...	OMIM:277720
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Lipoma, ...	OMIM:612918
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Choana...	OMIM:608572
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ...	OMIM:249670
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Broad metacarpals, Long hallux, Short metacarpal, Lumb...	OMIM:602875
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Bilateral single transverse palmar creases, Micrognath...	ORPHA:2516
Waardenburg Syndrome Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, S...	ORPHA:894
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atr...	OMIM:617925
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Polydactyly, Hernia...	OMIM:602501
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Broad nasal tip, Hypopl...	OMIM:615524
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Lambotte Syndrome	Ventricular septal defect, Preaxial foot polydactyly, Retrognathia, Convex nasal ridge, Semilobar...	OMIM:245552
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v...	ORPHA:3320
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Atrial septal de...	OMIM:157800
Sirenomelia	Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Sirenomelia, Aplasia/Hypoplasia of...	ORPHA:3169
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, B...	OMIM:603671
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias	ORPHA:1355
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,...	OMIM:619980
Robinow Syndrome	Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Rib fusion, Mesomelic ...	ORPHA:97360
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal al...	ORPHA:398156
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Hypospadias, S...	OMIM:614613
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Prominent nose, Short neck, Micrognathia, Delayed ep...	OMIM:210710
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie...	OMIM:620025
Down Syndrome	Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov...	OMIM:190685
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypo...	ORPHA:314588
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Depressed nasal...	OMIM:620073
Hajdu-Cheney Syndrome	Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, Dislocated radial head, Anteverted ...	OMIM:102500
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of subcutaneous fat tissue, Depressed nasal bridge, Femoral hernia, ...	ORPHA:1899
Perlman Syndrome	Inguinal hernia, Hypoplasia of penis, Anteverted nares, Femoral hernia, Nephroblastoma, Micrognat...	ORPHA:2849
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism,...	OMIM:617660
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short neck, Micrognathia, Coxa ...	ORPHA:163649
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul...	OMIM:610205
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, De...	OMIM:616038
Pentasomy X	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S...	ORPHA:11
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Ectropion of lower eyelids, Preaxial polydactyly, Co...	OMIM:614976
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Prominent nasal bridge, Renal hypoplasia/aplas...	ORPHA:2754
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Short neck, Hypopl...	OMIM:613320
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Abnormal rib morphology, Clinod...	ORPHA:2475
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinod...	OMIM:620393
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect	OMIM:235750
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Ulnar deviation of the hand, Ventricular septal defect, Posteriorl...	OMIM:620113
Trisomy 17P	Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Short neck, Micrognathia, Patent ...	ORPHA:261290
Seckel Syndrome 8	Kyphoscoliosis, Ectopic kidney, Spinal cord compression, Micrognathia, Convex nasal ridge	OMIM:615807
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carpal bones,...	ORPHA:3258
Tetralogy Of Fallot	Abnormal nasal morphology, Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Kyphoscoliosis, Hyper...	OMIM:618363
Mmep Syndrome	Mandibular prognathia, Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Joubert Syndrome 40	Almond-shaped palpebral fissure, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Alg9-Cdg	Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract m...	ORPHA:79328
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Short neck, Syndactyly, Patent ductus arteriosus, Postaxia...	OMIM:249000
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,...	OMIM:181180
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Omphalocele	OMIM:614450
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Short neck, Flexion contracture, Ankyloblepharon, Hypoplastic iliac wi...	OMIM:263650
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal...	OMIM:611561
Cone-Rod Dystrophy 16	Optic disc pallor, Postaxial polydactyly	OMIM:614500
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Inguinal hernia, Brachydactyly, Hypospadias, Carious teeth,...	ORPHA:1786
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Increased size o...	ORPHA:457395
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hydroceph...	OMIM:614576
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Omphalocele, Duplicated collecting system, Hydroureter, ...	OMIM:258040
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Depressed nasal bridge, Short neck, Tapered finger, Wide n...	OMIM:607131
Radio-Renal Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia...	ORPHA:3015
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck,...	OMIM:619879
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Ingui...	OMIM:600325
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Single transverse palmar crease, Limited elbow movement, Patent fora...	ORPHA:221120
Braddock Syndrome	Epicanthus, Posteriorly rotated ears, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, ...	ORPHA:52047
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Conductive he...	ORPHA:3082
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Hydrocephalus, Abnormal...	ORPHA:2701
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver...	OMIM:271520
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Depressed nasal bridge, Campto...	ORPHA:137834
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna...	ORPHA:93329
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph...	OMIM:314390
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Ventricular septal defect, Micrognathia, Scoliosis, Atrial septal defect	OMIM:608227
Isolated Hemihyperplasia	Inguinal hernia, Myelomeningocele, Nephroblastoma, Scoliosis	ORPHA:2128
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Facial palsy, Sensorineural hearing impairment, Abnormal rib morphology...	ORPHA:2790
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphalangism affecting th...	ORPHA:628
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Clinodactyly o...	ORPHA:329224
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Protruding ear, Peripheral arteriovenous fistula, Abnormal eyelash mo...	ORPHA:286
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic...	OMIM:613390
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Inguinal hernia, Ventricular septal defect, Micrognathia, Underd...	ORPHA:166035
Autosomal Dominant Omodysplasia	Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislo...	ORPHA:93328
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ...	OMIM:208530
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Micrognathia, Abnorma...	ORPHA:971
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Short palm...	OMIM:249420
Pierpont Syndrome	Prominent fingertip pads, Wide nose, Short neck, Broad nasal tip, Short toe, Broad palm, Micropen...	OMIM:602342
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Hyperlordosis...	OMIM:253010
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Atrial septal defect, Con...	OMIM:194190
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Syndactyly, Renal agenesis, Broad hallux, Micrognathia, Ectopic kidney, H...	OMIM:212780
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Atrioventricular ...	ORPHA:672
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, Vesicoureteral refl...	ORPHA:2745
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hallux valgus, Ventricular septal defect, Proteinuria, Kyphoscoliosi...	OMIM:618348
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon...	OMIM:619995
Trisomy 13	Ventricular septal defect, Abnormal eyelash morphology, Kyphosis, Patent ductus arteriosus, Posta...	ORPHA:3378
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum...	OMIM:208050
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Zttk Syndrome	Epicanthus, Unilateral lung agenesis, Ventricular septal defect, Sparse eyebrow, Kyphosis, Patent...	OMIM:617140
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia	OMIM:613670
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Kyphosis,...	OMIM:618272
Cantú Syndrome	Cardiomegaly, Short neck, Narrow chest, Broad ribs, Finger syndactyly, Broad hallux phalanx, Curl...	ORPHA:1517
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus, Wide nasal...	OMIM:614886
Cooper-Jabs Syndrome	Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Missing ribs, Campt...	ORPHA:1488
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Wide nasal bridge, Renal cyst	OMIM:614870
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Long thorax, Limb und...	OMIM:619142
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly ...	ORPHA:84
Roifman Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Singl...	OMIM:616651
Lateral Meningocele Syndrome	Bicuspid aortic valve, Short neck, Conductive hearing impairment, Vertebral fusion, Tethered cord...	OMIM:130720
Focal Dermal Hypoplasia	Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia...	OMIM:305600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing...	OMIM:280000
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Micrognathia, Promin...	OMIM:617516
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hydrolethalus Syndrome 1	Omphalocele, Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular cana...	OMIM:236680
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Au-Kline Syndrome	Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Thoracolumbar scol...	OMIM:616580
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyperlordosis, ...	OMIM:184250
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee flexion contract...	OMIM:601559
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Metatarsus adductus, S...	ORPHA:436003
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Atrial septal defect, P...	OMIM:229850
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Flexion...	OMIM:180849
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan...	OMIM:616730
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Abnormal pinna morphology, Sparse eyebrow, S...	OMIM:302960
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Short nose, Scoliosis, Micrognathia	ORPHA:2598
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly	OMIM:615937
Char Syndrome	Mesoaxial foot polydactyly, Ventricular septal defect, Depressed nasal bridge, Toe syndactyly, Pe...	ORPHA:46627
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Underdeveloped nasal alae, Kyphosis, Limited elbow...	OMIM:180870
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Abnormality of the hand, Abnormality of the ear, Narr...	OMIM:192430
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent for...	OMIM:256520
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Inguinal hernia, Anteverted nares, Short neck, Micrognathia, M...	OMIM:616266
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of ...	ORPHA:1895
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot polyd...	OMIM:258860
Pfeiffer Syndrome	Mandibular prognathia, Shortening of all middle phalanges of the fingers, Syndactyly, Finger synd...	OMIM:101600
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Ventricular septal defect, Broad hallux, Highly arc...	OMIM:600987
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Bladder Exstrophy	Omphalocele, Inguinal hernia, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias...	ORPHA:93930
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist ...	OMIM:193700
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Abnormal epiphysis morphology, A...	ORPHA:90653
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Missing...	OMIM:206900
Acrocephalopolydactylous Dysplasia	Omphalocele, Micromelia, Short neck, Postaxial hand polydactyly, Short nose, Cystic renal dysplas...	OMIM:200995
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Encephalocele, S...	OMIM:108720
Lambert Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Branchial anomaly, Malar flattening	ORPHA:1296
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Hydrocephal...	ORPHA:974
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Anteverted nares, Rhizomelia, Phalangeal dislocation, Short neck, Micrognat...	OMIM:264180
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality...	ORPHA:369891
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Bilateral sing...	OMIM:619657
8Q12 Microduplication Syndrome	Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ...	ORPHA:228399
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Large plac...	ORPHA:254519
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Abnormal aortic arch morphology, Atrial septal defect, Vesicoureteral r...	ORPHA:567
Charge Syndrome	Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, ...	OMIM:214800
Lateral Meningocele Syndrome	Short neck, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnormality of ...	ORPHA:2789
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Broad nasal tip, Delayed epiphysea...	ORPHA:166016
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Rudiger Syndrome	Inguinal hernia, Depressed nasal bridge, Ureterovesical stenosis, Single transverse palmar crease...	OMIM:268650
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Tethered cord, My...	OMIM:600145
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,...	OMIM:601680
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Multicystic kidney dysplasia, Depressed nasal bridge, Anteve...	ORPHA:1001
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Microphthalmia, Syndromic 9	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia...	OMIM:601186
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Abnormality of the kidney, Single transverse palmar crease, Broad nasal ti...	ORPHA:391372
Craniodiaphyseal Dysplasia	Optic atrophy, Abnormal rib morphology, Conductive hearing impairment, Stenosis of the external a...	ORPHA:1513
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Ventricular septal defect, Single transverse palmar cre...	OMIM:617061
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Short...	OMIM:300887
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Epicanthus, Arachnodactyly, Long palm, Posteriorly rotated ears...	ORPHA:2759
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Postaxial hand polydactyly,...	OMIM:607361
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,...	OMIM:218600
Double Outlet Right Ventricle	Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl...	ORPHA:3426
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pulm...	OMIM:618330
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Abnormal rib morphol...	ORPHA:52
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short...	OMIM:302950
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Micrognathi...	OMIM:222765
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Ectopic kidney, 2-3 toe syndactyly, Abnormal heart morphology, Sma...	OMIM:239800
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Epicanthus, Dextrocardia, Secundum atrial septal defect, Pneumo...	ORPHA:2257
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Pelger-Huet Anomaly	Ventricular septal defect, Depressed nasal bridge, Kyphosis, Upper limb undergrowth, Polydactyly,...	OMIM:169400
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia...	ORPHA:2083
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Renal cys...	ORPHA:2031
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum...	OMIM:219730
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Pontine Tegmental Cap Dysplasia	Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Scoliosis, Ptosis	OMIM:614688
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion con...	OMIM:271665
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation...	OMIM:312870
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Recurrent urinary tract infecti...	ORPHA:2438
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Upper eyelid entropion, Postaxial polydact...	ORPHA:457284
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ...	OMIM:271510
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral...	OMIM:617992
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Arachnodactyly, Long nos...	OMIM:617602
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Kyphosis, Short nose, Scoliosis	ORPHA:2429
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos...	OMIM:154400
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Micrognathia, Alobar holoprosencephaly, Patent ductus arteriosus, Vert...	OMIM:301043
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Narrow greater s...	ORPHA:508533
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Lowry-Maclean Syndrome	Inguinal hernia, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, H...	ORPHA:2409
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Abnormal size of the palpebral fissures, Highly arched eyebrow, Ventricula...	ORPHA:500159
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Hyp...	ORPHA:1727
Stromme Syndrome	Prominent nasal bridge, Micrognathia, Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydac...	OMIM:243605
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Micropenis, Depressed nasal bridge,...	OMIM:301040
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Single transverse palmar crease, Vertebral clefting, Hemivertebrae,...	OMIM:614701
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Sacral dimple, Finger syndactyly, Hypospadias, Broad ha...	ORPHA:2211
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Adducted thumb, Wide n...	ORPHA:1147
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T...	ORPHA:2473
Peho-Like Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:617507
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, Abnormal rib mo...	ORPHA:2522
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna...	ORPHA:1596
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, ...	ORPHA:263508
Okamoto Syndrome	Urinary incontinence, Primum atrial septal defect, Tethered cord, Depressed nasal bridge, Antever...	ORPHA:2729
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5...	ORPHA:2710
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Abnormal heart morphology, Vertebral segmentation defect, Syringomyelia, Hip dy...	ORPHA:531151
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Hernia, Vesicouret...	ORPHA:261494
Ehlers-Danlos Syndrome, Classic-Like, 2	Thoracic scoliosis, Short neck, Shoulder dislocation, Squared iliac bones, Umbilical hernia, Ptos...	OMIM:618000
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Ventricular septal defect, Wide nasal bridge, Clinodactyly of the 5th finger, Co...	OMIM:314320
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Hearing impairment, Short thumb, Patent ductus arteriosus, Sensorineural h...	ORPHA:2712
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Recurren...	ORPHA:3078
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Brachydactyly, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Micrognat...	OMIM:616331
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
3Mc Syndrome 3	Sacral dimple, Abnormal pinna morphology, Diastasis recti, Highly arched eyebrow, Hearing impairm...	OMIM:248340
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl...	ORPHA:264450
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Arachnodactyly, Mitral valve prolapse, Atrophic scars, Bilateral talipes equinov...	OMIM:615539
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Clinodactyly, Ves...	OMIM:614261
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Broad hallux,...	OMIM:615948
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Sacral dimple, Posteriorly rotated ears, Postaxial polydactyly,...	OMIM:300968
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Dextrocardia, Missing ribs, Diastomatomyelia, Meningocele, Abnormal tric...	ORPHA:1759
C Syndrome	Omphalocele, Sacral dimple, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nare...	ORPHA:1308
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna...	ORPHA:96097
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P...	OMIM:618829
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Multiple lipomas, Foot polyd...	ORPHA:210548
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph...	OMIM:255800
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide...	OMIM:613604
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
Emanuel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ...	OMIM:609029
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Micrognathia, ...	OMIM:250410
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Func...	ORPHA:96148
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conical incisor, Cutaneous finger syndactyly, Short palm, Atrial septal defect, V...	OMIM:235510
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Anteverted nares, R...	OMIM:220500
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Prominent fingertip pads, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Abnorm...	ORPHA:485405
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe sy...	OMIM:272440
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, Short neck, Micrognathia, Prox...	OMIM:217980
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplasti...	OMIM:616910
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Li-Campeau Syndrome	Telecanthus, Ventricular septal defect, Single transverse palmar crease, Patent foramen ovale, Pa...	OMIM:619189
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, Atrial septal defect, ...	OMIM:121050
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale, Patent du...	OMIM:612582
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Abnormal car...	OMIM:608776
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Wide nasal ...	ORPHA:3369
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Polydactyly-Myopia Syndrome	Postaxial hand polydactyly, Femoral hernia, Inguinal hernia	ORPHA:2917
Noonan Syndrome 8	Epicanthus, Ventricular septal defect, Short neck, Patent ductus arteriosus, Pleural effusion, Ab...	OMIM:615355
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Prominent na...	ORPHA:85201
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Tethered cord, Patent ductus arteriosus after premature birt...	OMIM:618460
Developmental And Epileptic Encephalopathy 89	Omphalocele, Highly arched eyebrow, Asymmetry of the ears, Sparse eyebrow, Flexion contracture, U...	OMIM:619124
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Spina...	OMIM:618624
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Lateral clavicle hook, Hydrocephalus, Postaxial hand polydactyly, Cone...	OMIM:615630
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Hypospadias, Overlapping ...	OMIM:613026
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Highly ar...	OMIM:617452
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Missing ribs, Coronal hypo...	OMIM:619859
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, D...	OMIM:270100
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Congenital diaphragmatic h...	OMIM:122470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis, Umbili...	ORPHA:2241
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hearing impairment, Pulmonary artery...	ORPHA:85202
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Hydrocephalus, Supernumerary ribs, Short nose, Retrognathia	ORPHA:163961
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Hypertrophic cardiomyopathy, Short...	OMIM:617183
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a...	OMIM:614846
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Large tarsa...	OMIM:215150
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Renal hypoplasia/aplasia, Aqueducta...	ORPHA:1788
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Per...	OMIM:617822
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Upslanted palpebral fissure, Low-set ears,...	ORPHA:276422
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte...	OMIM:612561
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,...	OMIM:616007
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Atrial s...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Atrial s...	ORPHA:363958
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly	OMIM:618618
Greenberg Dysplasia	Micromelia, Beaded ribs, Abnormal lung lobation, Tetraphocomelia, Hypoplastic vertebral bodies, H...	OMIM:215140
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Synophrys, Recurrent upper respiratory tract infections, Ovoid t...	OMIM:252900
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Short neck, Atrial septal defect, Conductive hearing impairment, Dys...	OMIM:601808
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:617991
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
15q26 overgrowth syndrome	Mandibular prognathia, Short neck, Prominent nose, Micrognathia, Abnormal finger morphology, Vesi...	DECIPHER:81
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Metaphyseal widening, Renal neoplasm, Depressed nasal ...	ORPHA:536467
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Short neck, Kyphosis, Patent ductus arteriosus, Cupped ear, Hemivertebrae, Overfolded...	OMIM:618223
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal defect, Contracture of the proxi...	OMIM:300166
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Postaxial polydactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Aplasia ...	OMIM:617088
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Ta...	ORPHA:435938
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly	OMIM:618955
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Epicanthus, Pectus excavatum, Conductive hearing impairment, S...	ORPHA:1131
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Clin...	OMIM:619736
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Ptosis, Camptodactyly of finger, Short neck, Abnormal rib morp...	ORPHA:1703
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, Hypoplasia ...	OMIM:200980
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Sparse eyebrow, Pectus ex...	OMIM:612530
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Diastasis recti, Unilateral renal agenesis, Underdeveloped nasal alae, Single transv...	OMIM:618419
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cu...	OMIM:609654
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Anteverted nares, Unilateral renal agenesis, Multiple sma...	OMIM:216360
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morphology, Multi...	ORPHA:2461
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1389
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Renal hypoplasia, 2-3 toe synda...	OMIM:618914
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Short neck, Patent ductus arteriosus, Hydrocephalus,...	OMIM:612938
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Cranioectodermal Dysplasia 3	Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyl...	OMIM:614099
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Li-Ghorbani-Weisz-Hubshman Syndrome	Epicanthus, Telecanthus, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Up...	OMIM:618974
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect	OMIM:253300
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel ...	ORPHA:2643
Grange Syndrome	Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm	ORPHA:79094
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathi...	ORPHA:3409
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Omodysplasia 1	Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Short neck, Microgn...	OMIM:258315
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Isolated Polycystic Liver Disease	Back pain, Multiple renal cysts, Vascular dilatation	ORPHA:2924
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Po...	ORPHA:1770
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an...	OMIM:619910
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flatte...	ORPHA:93946
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno...	OMIM:617478
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, ...	OMIM:619951
Acromesomelic Dysplasia 4	Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short metac...	OMIM:619636
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Unilateral renal agenesis, ...	OMIM:618494
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Camptodactyly of finger, Micrognathia	ORPHA:1495
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of...	OMIM:610536
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo...	ORPHA:959
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia, Wide nasal bridge, Vascular dilatation	OMIM:614859
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal brid...	OMIM:193500
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia, Postaxial polydactyly	ORPHA:544254
Ogden Syndrome	Inguinal hernia, Broad hallux, Ventricular septal defect, Pulmonary artery stenosis, Low-set ears...	ORPHA:276432
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypop...	ORPHA:2746
Congenital Sialidosis Type 2	Inguinal hernia, Respiratory tract infection, Hydrocephalus, Optic atrophy, Abnormal heart morpho...	ORPHA:93400
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Anteverted nares, Bilateral single transverse palmar creases, Short neck, Microg...	ORPHA:3191
Crisponi/Cold-Induced Sweating Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Short neck, Micrognathia, Ca...	OMIM:272430
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, S...	OMIM:257300
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Hydrocephalus, Abnormal renal morphology,...	ORPHA:59315
Osteoglosphonic Dysplasia	Inguinal hernia, Anteverted nares, Choanal atresia, Rhizomelia, Micrognathia, Abnormal form of th...	ORPHA:2645
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Thoracolumbar scoliosis, Overl...	OMIM:616723
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Ventricular septal defect, Single transverse palmar crease, ...	ORPHA:1708
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Wide...	OMIM:615236
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of penis, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnor...	ORPHA:1295
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Ventral shortening of foreskin, Urethral diverticul...	ORPHA:95706
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Low-set, posteriorly rotated ears, Scapular winging, Abnormal pu...	ORPHA:500
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Renal cyst	OMIM:174050
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation...	ORPHA:958
Arterial Tortuosity Syndrome	Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Femoral hernia, Hiatus hernia, Pulmona...	ORPHA:3342
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
2Q31.1 Microdeletion Syndrome	Short neck, Synophrys, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clin...	ORPHA:251014
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var...	OMIM:608940
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu...	ORPHA:284169
Hallermann-Streiff Syndrome	Natal tooth, Prominent nasal bridge, Spina bifida, Hyperlordosis, Underdeveloped nasal alae, Micr...	OMIM:234100
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger	ORPHA:2515
Loeys-Dietz Syndrome 4	Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Arterial tortuosity,...	OMIM:614816
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Hearing impairment, Pectus excavatum, Pulmona...	ORPHA:96167
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed eruption...	ORPHA:819
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ...	OMIM:258480
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hemivertebrae, Protruding ear, Atrial septal defect, Emphysema, Lumbar ...	ORPHA:500150
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Short neck, Kyphosis, Genu valgum, Short nose, Spina bifida occulta	ORPHA:2983
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Joubert Syndrome 37	Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Low-set ears, Ptosis	OMIM:619185
Fraser Syndrome	Omphalocele, Encephalocele, Hypoplasia of penis, Cleft ala nasi, Depressed nasal bridge, Multicys...	ORPHA:2052
Holoprosencephaly 7	Omphalocele, Hypoplasia of the premaxilla, Flat nasal alae, Alobar holoprosencephaly, Hydrocephal...	OMIM:610828
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Micrognathia, Short nec...	ORPHA:2879
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture...	OMIM:312150
X-Linked Intellectual Disability, Nascimento Type	Depressed nasal bridge, Ventricular septal defect, Hypospadias, Underdeveloped nasal alae, Overla...	ORPHA:163956
Esophageal Atresia	Omphalocele, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Abnormality...	ORPHA:1199
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Shallow orbits, Conductive hearing impairm...	OMIM:150250
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, 2-3 toe syndactyly, Talipe...	ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Epicanthus, Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proxi...	OMIM:300998
Hurler Syndrome	Recurrent respiratory infections, Abnormal clavicle morphology, Abnormal heart valve morphology, ...	ORPHA:93473
Hajdu-Cheney Syndrome	Short neck, Absent frontal sinuses, Micrognathia, Hernia, Partial absence of toe, Anteverted nare...	ORPHA:955
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Spinal cord compression, Flared metap...	ORPHA:93346
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery stenosis, Postaxial hand p...	ORPHA:75389
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd...	OMIM:263520
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Wide nose, Sacral dimple, Ventricular septal defect, Pro...	ORPHA:505237
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Renal cyst, Hors...	OMIM:612284
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Scoliosis, Hepatic cysts, Brachydac...	OMIM:613819
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Synophrys, Patent ductus...	OMIM:617751
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Lumbar Syndrome	Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B...	ORPHA:83628
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Johnson Neuroectodermal Syndrome	Absent eyebrow, Facial palsy, Absent eyelashes, Preaxial hand polydactyly, Protruding ear, Hand p...	ORPHA:2316
Orofaciodigital Syndrome Viii	Syndactyly, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia	OMIM:300484
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Hydrocephalus, Postaxial hand polydactyly, Narrow palpebral fissure, Lo...	OMIM:220220
Trisomy X	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Floating-Harbor Syndrome	Short neck, Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarth...	ORPHA:2044
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Anterior beaking of lower thoracic vertebrae, ...	ORPHA:584
3M Syndrome	Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Short neck, Increa...	ORPHA:2616
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, Hemiverteb...	ORPHA:2180
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Dorsocervical fat pad, Kyphoscoliosis, Short neck, Micrognathia, Dev...	ORPHA:391408
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Nephrocalcinosis, L...	OMIM:618005
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Depressed nasa...	OMIM:156550
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Long nose, Kyphosis, Dental malocclusi...	ORPHA:2115
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Micromelia, Micrognathia, Ur...	ORPHA:93271
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Joint contracture, Scoliosis, Short nose	OMIM:615419
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Atrial septal defect, Depressed nasal brid...	OMIM:613458
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Shallow orbits, Conductive hearing...	OMIM:182212
Hughes-Stovin Syndrome	Pulmonary artery aneurysm, Vasculitis, Arterial stenosis	ORPHA:228116
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Abnormality of the kidney, Down-sloping shoulders, M...	ORPHA:1724
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Cox...	ORPHA:582
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Broad nasal tip, Tapered finger, Cyst of the ductus choledochus, Pat...	OMIM:619480
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology...	ORPHA:3469
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Protruding ear	ORPHA:231140
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum...	OMIM:617752
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,...	OMIM:615398
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Congenital diaphragmati...	ORPHA:1780
Chromosome 5Q12 Deletion Syndrome	Long toe, Sacral dimple, Ventricular septal defect, Prominent nose, Short neck, Micrognathia, Pat...	OMIM:615668
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ...	OMIM:619562
Weiss-Kruszka Syndrome	Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Single trans...	OMIM:618619
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose, Short neck, Micrognathia...	ORPHA:363528
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Single transverse palmar crease, Short neck, ...	OMIM:244300
Coenzyme Q10 Deficiency, Primary, 7	Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosi...	OMIM:616276
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, 3-Methylglutaconic aciduria, Scoliosis, Hyper...	ORPHA:496790
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Hyperlordosis, Central diaphr...	OMIM:617450
Emanuel Syndrome	Congenital hip dislocation, Hooded eyelid, Multiple joint contractures, Congenital diaphragmatic ...	ORPHA:96170
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Camptodactyly of finger, Arachnodactyly, Abnormal renal morpho...	ORPHA:83
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Absent tragus, Preaxial hand polydactyly, Conductive hearing impairment,...	ORPHA:79113
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Hernia, Short nose	ORPHA:1702
Marshall Syndrome	Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hy...	OMIM:154780
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul...	ORPHA:2008
Meckel Syndrome, Type 7	Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis,...	OMIM:267010
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture...	OMIM:253290
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Hearing impairment, Short neck, Hyperlordosis, Short thorax, Nasolacrimal duct o...	ORPHA:3218
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ptosis, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypop...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ptosis, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypop...	ORPHA:352665
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Anteverted nares, Short neck, Patent ductus arteriosus, Duplication of pha...	OMIM:243310
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Congenital contracture, Scoliosis, Micrognathia	OMIM:615042
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Short neck, Beaded ribs, Bowing of the legs, ...	OMIM:200600
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ...	OMIM:618150
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Absent eyebrow, Inguinal hernia, Aganglionic megacolon, Hearing impairment, Absent e...	OMIM:308205
Trisomy 12P	Micrognathia, Short neck, Wide nasal bridge, Large hands, Abnormality of the urinary system, Clin...	ORPHA:1699
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar...	ORPHA:536471
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Short neck, L...	ORPHA:3309
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplas...	OMIM:614527
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Amish Lethal Microcephaly	Organic aciduria, Spina bifida, Micrognathia	ORPHA:99742
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Microg...	ORPHA:1234
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Abno...	ORPHA:500095
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Inguinal hernia, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscol...	ORPHA:2953
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Postaxial polydactyly, Poste...	OMIM:605627
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss...	OMIM:608612
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Short humerus, Ventricular septal defect, Anomalous ...	OMIM:117650
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Inguinal hernia, Short femur, Depressed nasal bridge, Anteverted nar...	OMIM:618188
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact...	OMIM:617527
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Ventricular septal defect, Anteverted nares, Proximal placement...	OMIM:619762
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placemen...	ORPHA:818
Al-Raqad Syndrome	Atrial septal defect, Short nose, Sandal gap, Brachydactyly	OMIM:616459
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Hypospadias, Micrognathia, Short 5th finger, Microphallus, Small pla...	ORPHA:397590
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Hydrocephalus, Prominent fingertip pads, Short nose	OMIM:300558
Giant Cell Arteritis	Pericarditis, Abnormal pleura morphology, Hearing impairment, Recurrent pharyngitis, Vertigo, Vas...	ORPHA:397
Noonan Syndrome 10	Short neck, Pectus carinatum, Atrial septal defect, Sparse eyebrow, Patent ductus arteriosus, Pul...	OMIM:616564
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Short neck, Micrognathia, Wide nasal bridge, Abn...	ORPHA:2077
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Neu-Laxova Syndrome	Micromelia, Micrognathia, Spina bifida, Trismus, Flexion contracture, Depressed nasal ridge, Larg...	ORPHA:2671
Catel-Manzke Syndrome	Single transverse palmar crease, Short neck, Pectus carinatum, Clinodactyly of the 5th finger, Sh...	OMIM:616145
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Ventricular septal defect, Hearing impairment, Tapered finger, Patent ductus arterios...	OMIM:617159
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Postaxial polydactyly, Synophrys, Sensorineural hearing impairment, Upslanted palpebr...	OMIM:615824
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Multiple renal cysts, Anteverted nares, Renal cyst	OMIM:614883
Toluene Embryopathy	Micrognathia, Tapered finger, Abnormal localization of kidney, Hypoplasia of the zygomatic bone, ...	ORPHA:1920
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, B...	OMIM:616589
Phakomatosis Pigmentokeratotica	Spina bifida, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hemiatrophy, Scolio...	ORPHA:2874
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short neck, Bulbous nose, Wide nasal bridge, Abnormal heart m...	OMIM:618571
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Long thorax, Limb ...	OMIM:619143
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Short neck, Micrognathia, Bowing of the legs, Hydroc...	ORPHA:1865
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Wide nasal bridge, ...	OMIM:218000
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Epicanthus, Ventricular septal defect, Optic nerve hypoplasia, Narrow palpe...	OMIM:615879
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Ventricular septal defect, Brachydacty...	OMIM:147791
Cleidocranial Dysplasia	Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Chronic otiti...	ORPHA:1452
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal lung lo...	ORPHA:1666
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Wide nasal bridge, Hypoplasi...	OMIM:249620
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal de...	OMIM:107480
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen...	OMIM:214300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Complete ...	ORPHA:476126
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Bulbous nose, Patent ductus arteriosus, Hy...	ORPHA:250989
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Overlapping toe, Flexion contracture, Wide nasal bridge, H...	OMIM:619383
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delay...	OMIM:271640
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Broad nasal tip, Tapered finger, Short toe, Abnormal renal morphology, Hyd...	OMIM:239300
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of a...	ORPHA:280195
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Scoliosis	OMIM:618218
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Highly arche...	ORPHA:313781
Leopard Syndrome 3	Posteriorly rotated ears, Short neck, Cubitus valgus, Sensorineural hearing impairment, Shield ch...	OMIM:613707
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol...	ORPHA:91387
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Aplasia of the nasal bone, Hypospadias, Kyphoscoliosis, Micrognathia, Mi...	OMIM:618820
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus, Retrognathia	ORPHA:2736
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pro...	OMIM:616777
Noonan Syndrome 2	Short neck, Pectus carinatum, Abnormal sternum morphology, Atrial septal defect, Atrioventricular...	OMIM:605275
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Ventricular septal defect, Sandal gap, Highly arched eyebrow...	OMIM:270450
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Advanc...	OMIM:614753
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Pectus carinatu...	OMIM:245600
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydroce...	ORPHA:268249
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Convex nasal ridge, Short neck, Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Micr...	ORPHA:251028
Doors Syndrome	11 pairs of ribs, Epicanthus, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe mo...	ORPHA:79500
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Abnormal form of the vertebral bod...	ORPHA:1106
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp...	ORPHA:2306
Distal 22Q11.2 Microdeletion Syndrome	Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fistula, Arachnodacty...	ORPHA:261330
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasi...	ORPHA:3301
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati...	OMIM:143095
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Pectus carinatum, Atrial septal defect, Finger syndactyly, Spars...	ORPHA:464738
Warsaw Breakage Syndrome	Epicanthus, Ventricular septal defect, Single transverse palmar crease, Hypoplasia of the cochlea...	OMIM:613398
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Supernumerary tooth, Myelomeningocele, Wide nasal bridge, Ovarian ...	OMIM:311200
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Hearing impairment, Patent ductus arteriosus, Prominen...	OMIM:614609
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Short neck, Abnormality of the elbow, Abnormal rib morphology,...	ORPHA:1486
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Prominent veins on trunk, Shoulder ...	ORPHA:536532
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Abnormal fo...	ORPHA:3107
Acromelic Frontonasal Dysplasia	Encephalocele, Midline central nervous system lipomas, Broad nasal tip, Bifid nasal tip, Meningoc...	ORPHA:1827
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Inguinal hernia, Tapered finger, Flexion contracture, Hip dysplasia, Scolios...	ORPHA:544503
Phelan-Mcdermid Syndrome	Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Bulbous nose, ...	OMIM:606232
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati...	OMIM:600001
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the ...	OMIM:618828
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Cloacal abnormality, H...	ORPHA:49
Fetal Alcohol Syndrome	Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, A...	ORPHA:1915
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger synd...	OMIM:200990
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Fryns Microphthalmia Syndrome	Neural tube defect, Macrotia, Abnormality of the ear	OMIM:600776
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos...	ORPHA:583
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Epicanthus, Telecanthus, Thick eyebrow, Ventricular septal defect, Highly a...	OMIM:617360
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red spot of the macula, Hyper...	ORPHA:354
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent ductus arteriosus,...	OMIM:619769
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Protruding ear, Ao...	OMIM:301039
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Keloids, Ventricular septal defect, Scoliosis	ORPHA:357225
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Kyphosis, Scoliosis, Atrial s...	ORPHA:261190
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abno...	ORPHA:2519
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidne...	ORPHA:464306
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl...	OMIM:613443
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Renal hypoplasia, Syringomyelia, Vesicoureteral reflux, Short ...	OMIM:613735
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Split hand, Clubbin...	OMIM:600460
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Epicanthus, Ventricular septal defect, Thickened helices, P...	OMIM:610733
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atrial septal def...	OMIM:612562
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Lop ear, Pectus exc...	OMIM:300472
Nephronophthisis 15	Polydactyly, Nephronophthisis	OMIM:614845
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p...	ORPHA:95430
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever...	OMIM:618161
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Atrial septal defect, Phocomelia, Multicystic kidney dysplasia, Aplas...	ORPHA:2538
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst	OMIM:605231
Skraban-Deardorff Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a...	OMIM:617616
Lathosterolosis	Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Anteverted nares, Microg...	ORPHA:46059
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Epidermal Nevus Syndrome	Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Weakness of long fi...	ORPHA:35125
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Hypercalciuria,...	OMIM:614732
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ...	ORPHA:508488
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm...	ORPHA:2273
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, ...	OMIM:224400
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu...	ORPHA:2847
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
De Barsy Syndrome	Congenital hip dislocation, Prominent veins on trunk, Coxa vara, Emphysema, Patent ductus arterio...	ORPHA:2962
Robinow Syndrome, Autosomal Dominant 1	Short neck, Micrognathia, Clinodactyly, Short palm, Micropenis, Duplication of the distal phalanx...	OMIM:180700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Recurrent bronchitis, Short ...	OMIM:245150
Schinzel-Giedion Syndrome	Short neck, Micrognathia, Renal cyst, Tibial bowing, Choanal stenosis, Broad ribs, Micropenis, Hy...	ORPHA:798
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Hypopla...	OMIM:610682
Van Esch-O'Driscoll Syndrome	Sacral dimple, Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Protru...	OMIM:301030
Filippi Syndrome	Enlarged epiphyses, Wide nose, Finger syndactyly, Ventricular septal defect, Prominent nasal brid...	ORPHA:3255
Cohen Syndrome	Abnormal eyelid morphology, Clinodactyly of the 5th finger, Finger syndactyly, Arachnodactyly, Ta...	ORPHA:193
20Q11.2 Microduplication Syndrome	Sacral dimple, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Micr...	ORPHA:363659
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B...	ORPHA:1465
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Uplifted...	OMIM:616449
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, R...	ORPHA:280200
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Partial anosmia, Total anosmia, Anomalous origin of left coronary artery from the...	ORPHA:2326
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Wide nasal bridge, Thin ribs, Femoral bowing, Biconcave v...	OMIM:617952
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Patent ductus arte...	ORPHA:77298
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Sparse eyebrow, Hypoplasia of t...	OMIM:252500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary ai...	OMIM:243150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Pectus carinatum, Thickened helices, Atrial septal defect, Patent foramen ovale, High...	OMIM:617506
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Campt...	ORPHA:920
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Coxa valga, Hydrocephalus, Hammertoe, Distal arthrogryposis...	OMIM:619833
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Ventricular septal defect	OMIM:614876
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Hypoplasia of penis, Anteverted nares, Femoral hernia, Renal insufficiency, Cono...	ORPHA:96147
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, Short tibia, Atrio...	ORPHA:2751
Fg Syndrome 5	Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose	OMIM:300581
Renal And Mullerian Duct Hypoplasia	Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Short nose	OMIM:266810
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, Nephronophthisis, C...	OMIM:266920
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, ...	ORPHA:1812
Oculodentodigital Dysplasia	Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Carious tee...	OMIM:164200
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ...	ORPHA:2462
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Prominent antihelix, Short palm, Clinodac...	OMIM:193530
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Sho...	OMIM:601803
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Clinodactyly, Flexion contracture, Femoral bowing, Choanal stenosis, Vesicoureteral reflux, Micro...	ORPHA:95699
Loeys-Dietz Syndrome 5	Pectus carinatum, Atrial septal defect, Bilateral coxa valga, Patent foramen ovale, Scapular wing...	OMIM:615582
Joubert Syndrome 23	Sensorineural hearing impairment, Polydactyly	OMIM:616490
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Atrial ...	OMIM:616898
Waardenburg Syndrome Type 2	Ptosis, Telecanthus, Aganglionic megacolon, Sensorineural hearing impairment, Abnormality of the ...	ORPHA:895
Dermotrichic Syndrome	Short nose, Aminoaciduria, Depressed nasal bridge, Abnormal vertebral morphology	ORPHA:99688
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral ptosis, Th...	OMIM:619542
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Thoracic kyphos...	OMIM:620250
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology	DECIPHER:52
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Hypoplastic cer...	ORPHA:56304
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia...	ORPHA:1318
Aase-Smith Syndrome I	Ventricular septal defect, Abnormal pinna morphology, Hydrocephalus, Flexion contracture, Talipes...	OMIM:147800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Intraventricular hemorrh...	OMIM:613603
Mend Syndrome	Microretrognathia, Sacral dimple, Crossed fused renal ectopia, Broad hallux, Prominent nasal brid...	OMIM:300960
Acrocallosal Syndrome	Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Postaxial hand po...	ORPHA:36
Cardiac Valvular Dysplasia 1	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricus...	OMIM:212093
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Abnormal pinna morphology, Short neck, Pectus excavatum, Patent ductus...	ORPHA:52055
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Abnormal rib morphology, Hypoplastic ...	ORPHA:2772
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ventricular septal defect, Anteverted nares, Foot joint contracture, Short neck,...	ORPHA:444072
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-slo...	OMIM:227330
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Dextrocardia, Short neck, Micrognathia, Long fingers...	ORPHA:96092
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl...	ORPHA:1647
Monosomy 9Q22.3	Epicanthus, Short neck, Pectus excavatum, Palmar pits, Hydrocephalus, Kyphosis, Abnormal rib morp...	ORPHA:77301
Feingold Syndrome	Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Patent duc...	ORPHA:1305
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Cam...	OMIM:610015
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Noonan Syndrome	Low-set, posteriorly rotated ears, Brachydactyly, Abnormal pulmonary valve morphology, Thickened ...	ORPHA:648
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Ventricular septal defect, Prominen...	OMIM:309520
Septooptic Dysplasia	Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Patent ductus arteriosus,...	OMIM:115470
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Diamond-Blackfan Anemia 10	Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Morgag...	OMIM:613309
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Orofaciodigital Syndrome Type 1	Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kidney dysplasia, Ab...	ORPHA:2750
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Femoral bowing, Aortic valve stenosi...	OMIM:615415
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor...	ORPHA:666
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Slender long bone, Cubitus valgus, Short nose, Spina bifida occulta	ORPHA:1185
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Single transver...	OMIM:614105
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short neck, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasi...	OMIM:609053
Cranioectodermal Dysplasia 2	Unilateral ptosis, Short neck, Narrow chest, Atrial septal defect, Patent foramen ovale, Simple e...	OMIM:613610
Atelis Syndrome 1	Glue ear, Ventricular septal defect, Bronchiectasis, Lumbar kyphosis, Microtia, Atrial septal def...	OMIM:620184
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal...	ORPHA:167635
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphrag...	ORPHA:2260
Renpenning Syndrome	Epicanthus, Pectus excavatum, Abnormal thumb morphology, Sensorineural hearing impairment, Abnorm...	ORPHA:3242
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Telecanthus, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Valvular pul...	OMIM:300707
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Pycnodysostosis	Brachydactyly, Aplastic clavicle, Micrognathia, Prominent nose, Absent frontal sinuses, Persisten...	OMIM:265800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Prominent nasal bridge, Ankle flexion contracture, Hypospadias, Unilat...	ORPHA:464311
Trisomy 10P	Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the kidney, Abnormali...	ORPHA:171929
Coffin-Siris Syndrome 7	Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Posteriorly rot...	OMIM:618027
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal pinna morphology, Facial palsy, Hyperlordosis, Abnormal rib morphology, Pectus carinatum...	ORPHA:3068
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Hydroureter, Depressed nasal bridge...	OMIM:259775
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Carey-Fineman-Ziter Syndrome	Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ul...	ORPHA:1358
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Sho...	ORPHA:110
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ri...	OMIM:156200
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ...	ORPHA:391641
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Epicanthus, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocatio...	ORPHA:2916
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Ververi-Brady Syndrome	Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Transposition of the great arteries, Sc...	OMIM:617982
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Absent thumb, Short neck, Patent ductus arteriosus, Hydrocephalus, Abn...	OMIM:300514
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Abnor...	ORPHA:453499
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Epidural hemorrhage, Abnormal pe...	ORPHA:464329
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Pectus carinatum, Fin...	ORPHA:363705
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip...	OMIM:619343
Lathosterolosis	Foam cells with lamellar inclusion bodies, Anteverted nares, Toe syndactyly, Lumbosacral meningoc...	OMIM:607330
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele, Postaxial polydactyly type A	ORPHA:1003
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis...	ORPHA:73246
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Postaxial polydactyly, Hearing impairment, Postaxial hand poly...	OMIM:209900
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ab...	ORPHA:2167
Diamond-Blackfan Anemia 21	Unilateral ptosis, Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Prea...	OMIM:620072
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Anteverted nares, Congenital diaph...	OMIM:614080
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Single transverse pa...	OMIM:614114
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, ...	OMIM:270400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Bulbous nose, Transposition of the great arteries, Talipes eq...	OMIM:616789
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Short neck, Micro...	OMIM:610759
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Short neck, Micrognathia, Absent radius, Ectop...	ORPHA:233
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrogryposis multiplex congeni...	OMIM:607598
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella,...	OMIM:182210
Distal Deletion 3P	Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Inguinal hernia, Sacral dimple, Heari...	ORPHA:1620
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Short neck, Fetal pyelectasis, Adducted thumb, Short nose, Bilatera...	ORPHA:50810
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Prominent nasal bridge, Camptodactyly ...	ORPHA:261349
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Aganglionic megacolon, Broad hallux, Shortening of all distal phalanges of ...	OMIM:614749
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Ventricular septal defect, Micrognathia, Short neck, Thyroid lymphangiectasia, P...	OMIM:235255
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Anteverted n...	ORPHA:254346
Holoprosencephaly 14	Anteverted nares, Ventricular septal defect, Proboscis, Alobar holoprosencephaly, Aqueductal sten...	OMIM:619895
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi...	OMIM:613848
Weill-Marchesani Syndrome 2	Short metatarsal, Shallow orbits, Thickened helices, Broad ribs, Broad metacarpals, Short metacar...	OMIM:608328
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac...	OMIM:615981
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Recurrent pneumonia, Abnormal heart morphology, Polydactyly, Aspiration pneu...	ORPHA:314655
Prader-Willi Syndrome Due To Translocation	Prominent nose, Short neck, Micrognathia, Clinodactyly of the 5th finger, Patent foramen ovale, A...	ORPHA:177907
19P13.3 Microduplication Syndrome	Epicanthus, Telecanthus, Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Lon...	ORPHA:447980
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Diastasis recti, Short proximal phalanx of finger, Deep palma...	OMIM:616638
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo...	OMIM:601005
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Atrial sep...	OMIM:118450
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas...	OMIM:119600
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxill...	OMIM:277600
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal...	OMIM:619471
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Hydrocephalus, Wi...	OMIM:601499
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr...	OMIM:618395
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Optic disc pallor, Cong...	OMIM:244450
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis, Triphalangeal thumb, Cl...	OMIM:149730
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Horseshoe kidney...	OMIM:218350
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, Atrial sept...	OMIM:619522
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Upper limb und...	ORPHA:369837
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Depressed nasal bridge, Proteinuria, Micrognathia, Hematu...	OMIM:616901
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, H...	OMIM:602398
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Short nos...	OMIM:614069
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Atrial septal defect, Low-set, posteriorly rotated ears, Thoracolumba...	ORPHA:480880
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subcutaneous lipoma, Hydrocephalus, Eyelid colob...	OMIM:613001
Meier-Gorlin Syndrome 1	Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Pectus carinatum, ...	OMIM:224690
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Choanal at...	OMIM:301044
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Multicystic kidney dysplasia, Anteverted nares, Promine...	ORPHA:1454
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Underdeve...	OMIM:615866
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd...	OMIM:217085
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Floating-Harbor Syndrome	Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephro...	OMIM:136140
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Hemiver...	ORPHA:85284
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, Atrial septal defect, Prominent fingertip pads, Vertebral...	OMIM:610443
Congenital Rubella Syndrome	Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Atrial sep...	ORPHA:290
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi...	ORPHA:107
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Cutaneo...	OMIM:200110
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:615716
Sotos Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad...	OMIM:117550
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, Va...	OMIM:616307
Tetrasomy 18P	Large hands, Short nose, Scoliosis	ORPHA:3307
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Abnormal dental ename...	ORPHA:2050
Desmosterolosis	Depressed nasal bridge, Renal agenesis, Micromelia, Abnormality of the nose, Micrognathia, Renal ...	ORPHA:35107
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614744
Bohring-Opitz Syndrome	Syndactyly, Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, M...	OMIM:605039
Hypophosphatasia	Bowing of the long bones, Abnormal rib morphology, Narrow chest, Emphysema, Abnormal metaphysis m...	ORPHA:436
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Scoliosis, Clinodactyly of the ...	OMIM:618430
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, A...	OMIM:208085
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Ventricular septal defect, Hearing impairment, Opt...	ORPHA:494344
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Synophrys, Recurrent upper respiratory tract infections, Ovoid th...	OMIM:252930
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Secu...	OMIM:300855
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri...	OMIM:619698
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Neurogenic bladder, Short neck, Secundum atrial septal defect, Micrognathia, Perimembr...	OMIM:608779
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Aminoaciduria	ORPHA:833
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect, Micrognathia	OMIM:243440
Peters Plus Syndrome	Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pu...	ORPHA:709
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D...	ORPHA:1791
Faciocardiomelic Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma...	OMIM:612731
3Q29 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Subvalvular aortic...	ORPHA:65286
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Conductive hearing impairment, Clinodac...	OMIM:611962
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Atrial septal defect, Double ...	ORPHA:1667
Teebi-Shaltout Syndrome	Syndactyly, Ureteral stenosis, Ventricular septal defect, Single transverse palmar crease, Rocker...	OMIM:272950
Chops Syndrome	Anteverted nares, Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous...	OMIM:616368
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Slender long bone, Scoliosis, Short ...	ORPHA:561
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Broad femoral neck, Micrognathia, Bowing of the legs, Coxa...	OMIM:617164
Aspergillosis	Pneumonia, Dacryocystitis, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis,...	ORPHA:1163
Cat-Eye Syndrome	Abnormal rib morphology, Downslanted palpebral fissures, Hip dysplasia, Hearing impairment	ORPHA:195
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Met...	ORPHA:261236
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Neurooculocardiogenitourinary Syndrome	Epicanthus, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorineural hear...	OMIM:618652
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Depressed nasal bridge, A...	ORPHA:1512
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Down Syndrome	Brachydactyly, Depressed nasal bridge, Sandal gap, Short neck, Renal hypoplasia/aplasia, Depresse...	ORPHA:870
Tetrasomy 9P	Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Amelo...	ORPHA:3310
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Long-chain dic...	OMIM:608836
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Pe...	OMIM:225500
Radio-Tartaglia Syndrome	Epicanthus, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Tapered finger, Cond...	OMIM:619312
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Micr...	ORPHA:564
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ...	ORPHA:3138
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Triphalangeal t...	OMIM:105650
X Small Rings	Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Short neck, T...	ORPHA:96201
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Beckwith-Wiedemann Syndrome	Omphalocele, Diastasis recti, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinos...	OMIM:130650
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the ...	ORPHA:581
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Cardiomegaly, Synophrys, Recurrent upper respiratory tract infections, Ovoid thor...	OMIM:252920
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Nicolaides-Baraitser Syndrome	Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan...	OMIM:601358
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,...	OMIM:618774
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Micrognathia, Kyphosis, Wide nasal bridge, Abnormal locali...	ORPHA:2510
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Downslanted palpebral fissures	ORPHA:163681
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases	OMIM:611936
Distal Deletion 12Q	Single transverse palmar crease, Short neck, Micrognathia, Ectopic kidney, Aplasia/Hypoplasia of ...	ORPHA:96149
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Poster...	OMIM:614294
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Carious teeth, Scol...	OMIM:219200
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Inguinal hernia, Ventricular septal defect, Bowing of the legs, Long hallux, R...	OMIM:617107
Immunodeficiency 49	Posteriorly rotated ears, Pulmonary artery stenosis, Upslanted palpebral fissure, Umbilical herni...	OMIM:617237
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Monosomy 9P	Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Sh...	ORPHA:261112
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Kyphosis, Pulmonic stenosis, Camptodactyly, Clinodactyly...	OMIM:619123
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospadias, Toe syndac...	ORPHA:217346
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Patent duc...	ORPHA:457193
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Short hallux, Short neck, Hypoplasia of the maxilla, Si...	OMIM:608156
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Omphalocele, Inguinal hernia, Ureteral duplication, Diastasis recti, Conge...	ORPHA:116
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Inguinal hernia, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered f...	ORPHA:2215
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Short nose, Clinodactyly	OMIM:618087
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Wide nasal bridge, Clinodactyly of the 5th finger, Atria...	OMIM:618067
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Mic...	ORPHA:912
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Ellis Van Creveld Syndrome	Micromelia, Epispadias, Conical incisor, Atrial septal defect, Atrioventricular canal defect, Syn...	ORPHA:289
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Aganglionic megacolon, Foot polydactyly, Sensorineural hearing impair...	ORPHA:2155
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose	ORPHA:261144
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Micrognathia, Metatarsus adductus, Abnormal heart morphology, Am...	OMIM:214110
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Ventricular septal defect, ...	ORPHA:85194
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
Dysosteosclerosis	Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Abnormal metaphyseal trabecula...	OMIM:224300
Bainbridge-Ropers Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un...	OMIM:615485
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Schwartz-Jampel Syndrome	Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Low-set, posterio...	ORPHA:800
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valve morphology, ...	ORPHA:667
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib...	ORPHA:73230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Synophrys, Large fleshy ears, Narrow chest, Atrial septal defect, Prominent superior ...	ORPHA:280633
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Choanal atresia, Hy...	ORPHA:163979
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus a...	OMIM:613457
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Patent ductus ...	ORPHA:505248
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni...	OMIM:219100
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Depressed nasal bridge, Hydrocephalus, Postaxial hand polydac...	OMIM:608091
Craniofacioskeletal Syndrome	Ventricular septal defect, Choanal atresia, Hypospadias, Micrognathia, Patent ductus arteriosus, ...	OMIM:300712
Meier-Gorlin Syndrome 7	Urethral stricture, 2-4 finger syndactyly, Ventricular septal defect, Choanal atresia, Hypospadia...	OMIM:617063
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Underdeveloped nasal a...	ORPHA:2315
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Anteverted nares, Choanal atresia, Ventricular septal defect, M...	OMIM:616975
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Wide nasal bridge, Scoliosis, Short nose, Patent foramen ovale, Hydroneph...	OMIM:619179
Distal Deletion 9P	Hypospadias, Short neck, Wide nasal bridge, Hernia, Short nose, Brachydactyly	ORPHA:1642
Familial Visceral Myopathy	Hydroureter, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Ara...	ORPHA:2604
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Telecanthus, Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Hypoplasia of the radius,...	ORPHA:140952
Peho Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:260565
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Single transverse palmar crease, Anteverted ears, Protruding ear, Clinodactyly of the 5th finger,...	ORPHA:459070
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose	OMIM:616420
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Hypospadias, Single transverse palmar creas...	OMIM:610253
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Atrial septal defect, Prominent finge...	OMIM:615873
Distal Deletion 19P	Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, K...	ORPHA:96129
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Ventricular septal defect, Micrognathia, Short neck, Broad nasal tip, Pancreatic...	ORPHA:1655
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Short neck, Tapered finger, Dental ma...	OMIM:616202
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Hearing impairment, Short neck, Sensorineural hearing impairment, Abnor...	OMIM:118100
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Anteverted n...	OMIM:602782
Orofaciodigital Syndrome Type 5	Ectopic accessory finger-like appendage, Supernumerary tooth, Postaxial hand polydactyly, Postaxi...	ORPHA:2919
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly...	OMIM:615989
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Cervical cord co...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Cervical cord co...	ORPHA:353277
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
Legius Syndrome	Non-small cell lung carcinoma, Mitral valve prolapse, Diaphyseal dysplasia, Xanthelasma, Abnormal...	ORPHA:137605
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocom...	OMIM:268300
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Depressed nasal bridge, Proteinuria, Congenital diaphragmatic hern...	ORPHA:1272
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Short neck, Mi...	OMIM:115150
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Micropenis, Hypospadias, Tapered finger, Supernumerary tooth, Scoliosis, Aortic valve stenosis, R...	ORPHA:268261
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abno...	ORPHA:96121
Geleophysic Dysplasia 1	Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypop...	OMIM:231050
Congenital Myopathy 12	Arachnodactyly, Pulmonary artery stenosis, Jaw contracture, Camptodactyly, Overlapping fingers, J...	OMIM:612540
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ...	ORPHA:139466
Pterygium Colli, Isolated	Short nose	OMIM:177990
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte...	ORPHA:1556
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Abnormal rib morpholo...	ORPHA:93941
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pectus excavatum, Pulmonic stenosis, Scoliosis, Atrial sep...	OMIM:615279
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Tapered finger, Bulbous nose, Wide nasal b...	OMIM:615803
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi...	OMIM:139210
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Short neck, Abnormal m...	ORPHA:1340
Fetal Hydantoin Syndrome	Depressed nasal ridge, Triphalangeal thumb, Hernia, Short nose, Short distal phalanx of finger	ORPHA:1912
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol...	OMIM:616629
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial ...	OMIM:253800
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Renal arter...	OMIM:162200
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Clinodactyl...	OMIM:268305
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Stroke, Atrial septal...	ORPHA:49827
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia...	OMIM:276820
Toriello-Carey Syndrome	Telecanthus, Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Short neck, Sp...	ORPHA:3338
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Omphalocele, Broad nasal tip	OMIM:248450
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Geleophysic Dysplasia 2	Mitral stenosis, Tricuspid stenosis, Ovoid vertebral bodies, Mitral valve prolapse, Short foot, C...	OMIM:614185
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ...	ORPHA:857
Grant Syndrome	Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:2097
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Kinsship Syndrome	Mandibular prognathia, Sacral dimple, Single transverse palmar crease, Short neck, Micrognathia, ...	OMIM:619297
Birt-Hogg-Dube Syndrome 1	Multiple lipomas, Renal cell carcinoma, Renal cyst, Renal neoplasm	OMIM:135150
Genitopatellar Syndrome	Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Atrial septal...	OMIM:606170
Restrictive Dermopathy	Multiple joint contractures, Atrial septal defect, Sparse eyebrow, Patent ductus arteriosus, Spar...	ORPHA:1662
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery...	OMIM:100300
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Flexion contracture, Micropenis, Clinodactyly of the 5th finger, Sh...	OMIM:614222
Arboleda-Tham Syndrome	Secundum atrial septal defect, Anteverted ears, Long thorax, Conjunctivitis, Narrow chest, Atrial...	OMIM:616268
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Preaxial hand polydactyly, Wide na...	ORPHA:1297
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Overlapping toe, Mic...	OMIM:613884
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
Diphallia	Ureteral duplication, Inguinal hernia, Renal malrotation, Hypospadias, Distal urethral duplicatio...	ORPHA:227
Pulmonary Hypertension, Primary, 1	Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros...	OMIM:178600
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares, Short neck	ORPHA:884
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Bulbous no...	OMIM:301022
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Optic atroph...	OMIM:249270
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Ulnar deviation of the hand, Ventricular septal defect, Single tra...	OMIM:214100
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Posteriorly rotated ears, Synophrys, Long eyelashes, Talipes equinovar...	OMIM:614961
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:234050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Short nose	OMIM:242860
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Epicanthus, Toe syndactyly, Palpebral edema, Ventricular septal defect, Campto...	ORPHA:261337
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Ventricular septal defect, Optic neuropathy, Increased interve...	OMIM:619727
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217085
Amme Complex	Inguinal hernia, Depressed nasal bridge, Diastasis recti, Sandal gap, Clinodactyly of the 2nd toe...	OMIM:300194
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Fem...	OMIM:620076
Charge Syndrome	Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Hypoplasia of the...	ORPHA:138
Myhre Syndrome	Brachydactyly, Inguinal hernia, Femoral hernia, Hearing impairment, Large iliac wing, Abnormal ri...	ORPHA:2588
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Prune belly, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose	OMIM:617802
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym...	ORPHA:90308
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Inguinal hernia, Sandal gap, Single transverse palmar crease...	OMIM:613177
Mgat2-Cdg	Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Pectus ex...	ORPHA:79329
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Proteinuria, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, Am...	OMIM:613404
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Abnormal pinna morphology, Symblepharon, Broad femoral neck, Short neck, Abnormal ri...	ORPHA:488434
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Bulbous nos...	ORPHA:2328
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic...	ORPHA:521426
Joubert Syndrome 1	Anteverted nares, Postaxial hand polydactyly, Renal cyst, Occipital myelomeningocele, Postaxial f...	OMIM:213300
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Ventricular septal defect, Congenital pulmonary airway malformation	ORPHA:436252
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Single transverse p...	ORPHA:1449
Werner Syndrome	Lipodystrophy, Rocker bottom foot, Abnormal cerebral vascular morphology, Lipoatrophy, Abnormal t...	ORPHA:902
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Patent du...	OMIM:227646
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Hypospadias, Coarctation of aorta, Abnormal aortic mo...	ORPHA:1923
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Anterior rib cupping, Micro...	OMIM:211350
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Cervical cord compression, Atr...	ORPHA:353281
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr...	ORPHA:560
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Scoliosis, Short nose	OMIM:615851
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc...	OMIM:619909
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Inguinal hernia, Tethered cord, Anteverted nares, Depressed nasal bridge, Br...	OMIM:618332
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217093
Tyshchenko Syndrome	Ventricular septal defect, Posteriorly rotated ears, Pectus excavatum, Narrow chest, Pulmonic ste...	OMIM:615102
Ulbright-Hodes Syndrome	Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S...	ORPHA:3404
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morp...	ORPHA:457279
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal pinna morphology, Coarctation of aorta, Abnormal heart morpho...	ORPHA:261183
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Coxa valga,...	OMIM:212066
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Depressed nasal bridge, Thoracolumbar scoliosis, Choanal atresia, Hiatus hernia, Pancreatic cysts...	OMIM:610199
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ...	OMIM:611812
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio...	OMIM:616037
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Short neck, Congenital contracture, Wrist flexion contracture, Elbow ankylosis...	OMIM:208150
Noonan Syndrome 9	Ventricular septal defect, Short neck, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, D...	OMIM:616559
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ...	OMIM:164210
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ...	OMIM:614922
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Laurence-Moon Syndrome	Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Micropen...	OMIM:618021
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Scoliosis,...	OMIM:614207
Goldberg-Shprintzen Syndrome	Telecanthus, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Tapered fin...	OMIM:609460
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta	OMIM:620210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Hypoplasia of the maxilla, Patent ductus arteriosus, Wide...	OMIM:106260
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Gapo Syndrome	Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Retinal arteriolar...	OMIM:230740
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Hydrocephalus, Slender long bone, Scoliosis, Malar flattening,...	OMIM:618590
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,...	OMIM:613795
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Peho Syndrome	Anteverted nares, Tapered finger, Hydrocephalus, Flexion contracture, Malar flattening, Short nos...	ORPHA:2836
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Broad nasal tip, Ca...	ORPHA:357074
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Broad hallux, Low-set ears, Duplication of phalanx of hallux	OMIM:617127
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Depressed nasal bridge, Hyperlordosis, Glutaric aciduria, Lacticaciduria, Abnor...	ORPHA:26791
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Micrognathia, Dental malocclusion, Contractures of the large joints, Scoliosis, Short nose	ORPHA:329178
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ab...	ORPHA:2331
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Clinodactyly, Syringomyelia, ...	ORPHA:357001
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n...	OMIM:619103
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo...	ORPHA:141127
Trichohepatoneurodevelopmental Syndrome	Synophrys, Narrow chest, Bilateral coxa valga, Clinodactyly of the 5th finger, Simple ear, Patent...	OMIM:618268
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Kyphosis, Incr...	OMIM:619005
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Apl...	ORPHA:3474
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Depressed nasal bridge, Proteinuria, Pericardial effusion, Kyphosis, Abnormal subcu...	OMIM:212065
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri...	OMIM:616430
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal defect, Anteverted nares, Hy...	OMIM:300000
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Single naris, Renal cyst, Short ribs, Hyperechogenic kidn...	OMIM:615636
Adnp Syndrome	Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpholo...	ORPHA:404448
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Hypospadias, Single transverse palmar crease, Micrognathia, Metatarsus...	OMIM:614866
Degcags Syndrome	Prominent nose, Micrognathia, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ov...	OMIM:619488
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Mitral valve prolaps...	OMIM:601776
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Epicanthus, Ventricular septal defect, Diastasis recti, Short neck, ...	ORPHA:488632
Joubert Syndrome 27	Polydactyly, Dilatation of the renal pelvis	OMIM:617120
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left vent...	OMIM:619869
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Pectus carinatum, At...	OMIM:218040
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
Noonan Syndrome 1	Short neck, Abnormal sternum morphology, Atrial septal defect, Patent ductus arteriosus, Pulmonic...	OMIM:163950
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Arachnodactyly, Arterial tortuosity, Patent ductus arteriosus, Scolios...	ORPHA:284984
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Concave nasal ridge, Short nose	OMIM:170100
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter...	OMIM:135900
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment	ORPHA:2578
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Depressed nasal bridge, Renal cyst	OMIM:614862
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Multicystic kidney dysplasia, Micrognathia, Depressed nasal ridge, Coarctation of aort...	ORPHA:1052
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Unilateral rena...	OMIM:113650
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Talipes equinovarus, Mitral stenosis,...	OMIM:617260
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Proximal placement of t...	ORPHA:261250
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Atrial septal defect, Vesicouretera...	OMIM:194050
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Lymphedema-Distichiasis Syndrome	Ptosis, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Tetralogy of Fallot, Varic...	OMIM:153400
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Clinodactyly, Intracranial hemorrha...	OMIM:613406
Arima Syndrome	Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Hematuria, Pos...	OMIM:243910
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Sh...	OMIM:612474
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Atrial septal defect, Short nose, M...	ORPHA:1790
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Congenital diaphragmatic hernia, Proxi...	ORPHA:199
Joubert Syndrome 32	Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly	OMIM:617757
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Short metacarpal, Depressed nasal bridge, Anteverted nares, Recurrent urinary trac...	OMIM:617157
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Rocker bottom foot, Tapered finger, Finger clinodactyly, Scoliosis, Campt...	OMIM:601353
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Flexion contracture, Micropenis, Short nose, Clinodactyl...	OMIM:614225
Heart And Brain Malformation Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wid...	OMIM:616920
Syndromic Diarrhea	Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Wide...	ORPHA:84064
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Anteverted nares, Prominen...	ORPHA:769
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Palmoplantar kera...	OMIM:604173
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Atrial septal defect, Inguinal hernia, Entropion, Hypoplasti...	OMIM:617403
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Aspartylglucosaminuria	Beaking of vertebral bodies, Mandibular prognathia, Inguinal hernia, Aspartylglucosaminuria, Abno...	ORPHA:93
Autosomal Dominant Cutis Laxa	Ptosis, Inguinal hernia, Dilatation of the ventricular cavity, Adducted thumb, Hip dislocation, B...	ORPHA:90348
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment	OMIM:616277
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo...	ORPHA:828
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abn...	ORPHA:2719
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Hydrocephalus, Red-brown urine, Renal t...	ORPHA:228308
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand p...	ORPHA:66625
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Intracranial hemorrhage, Arteriovenous malformation, S...	ORPHA:109
Noonan Syndrome 3	Epicanthus, Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Pectus excava...	OMIM:609942
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Preaxial hand polydactyly, Contractures of the large joints, Ch...	ORPHA:96179
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Micrognathia	ORPHA:452
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Short distal phalanx of finger	OMIM:277450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Anteverted nares, Hypospadias, Micrognathia, Hip subluxation, Patent d...	ORPHA:444077
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib mo...	ORPHA:96061
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Single transverse palmar crease, Flexion contracture, Limb undergrowth...	ORPHA:79243
Fanconi Anemia, Complementation Group N	Short thumb, Nephroblastoma, Ventricular septal defect, Short neck	OMIM:610832
Myopathy With Extrapyramidal Signs	Epicanthus, Ventricular septal defect, Short neck, Optic atrophy, Ptosis	OMIM:615673
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc...	OMIM:612289
Isolated Posterior Meningocele	Tethered cord, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis,...	ORPHA:268810
Ctcf-Related Neurodevelopmental Disorder	Prominent fingertip pads, Sacral dimple, Inguinal hernia, Anteverted nares, Single transverse pal...	ORPHA:363611
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Prominent nasal bridge, Scoliosis	OMIM:617635
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f...	ORPHA:2920
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Hypospadias, Micrognathia, Short neck, Patent ductus arteriosus, Wide nasal bri...	ORPHA:2282
Jaberi-Elahi Syndrome	Depressed nasal bridge, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Short nose	OMIM:617988
Costello Syndrome	Ventricular septal defect, Depressed nasal bridge, Abnormal dental enamel morphology, Short neck,...	ORPHA:3071
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Inguinal hernia, Dermatochalasis, Dilatation of the ventric...	ORPHA:90349
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad n...	OMIM:618846
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,...	OMIM:184705
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Telecanthus, Abnormal eyelash morphology, Scoliosis, Downslanted palpebral fissures,...	ORPHA:3164
Renpenning Syndrome 1	Mandibular prognathia, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus total...	OMIM:309500
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Wide nasal bridge, Renal cyst, Epiphyseal stippling, Convex nasal ridge	OMIM:601539
Orofaciodigital Syndrome Xvi	Inguinal hernia, Postaxial hand polydactyly, Postaxial foot polydactyly, Low-set ears, Short palp...	OMIM:617563
Orofaciodigital Syndrome Type 3	Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic...	ORPHA:2752
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum...	OMIM:258850
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Renal agenesis, Choanal atresia, Micromelia, Micrognathia, Camptoda...	ORPHA:2753
Cystic Echinococcosis	Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Abnormality of the v...	ORPHA:400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo...	OMIM:610978
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Abnormality of the hand, Tapered finge...	ORPHA:319182
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal e...	ORPHA:2769
Peutz-Jeghers Syndrome	Neoplasm of the nose, Nasal polyposis, Abnormality of the nose, Enlarged polycystic ovaries, Abno...	ORPHA:2869
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Abnormality of the ureter, ...	ORPHA:3339
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomeru...	ORPHA:534
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Ventricular septal defect, Renal agenesis, Absent thumb, Absent rad...	OMIM:227645
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Micrognathia, Split hand, Renal cyst, Hammertoe, Talipes equinovarus, Ret...	OMIM:261515
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Epicanthus, Inguinal hernia, Ventricular septal defect, Posteriorly rotated ears, Short neck, Abn...	OMIM:607721
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Inguinal hernia, Anteverted nares, Diastasis recti, Micrognathia, Broad nasal tip, Renal cortical...	OMIM:618548
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Ulnar deviation of the wrist, Epiphyseal stippling o...	ORPHA:56305
Monosomy 13Q34	Epicanthus, Posteriorly rotated ears, Postaxial hand polydactyly, Abnormal earlobe morphology, Po...	ORPHA:96168
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Short neck, Wide nasal bridge, Camptodacty...	ORPHA:251038
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral...	OMIM:208540
Transaldolase Deficiency	Ventricular septal defect, Depressed nasal bridge, Short neck, Patent ductus arteriosus, Coarctat...	OMIM:606003
Gomez-Lopez-Hernandez Syndrome	Malar flattening, Short nose, Anteverted nares	OMIM:601853
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Ayme-Gripp Syndrome	Mandibular prognathia, Pericarditis, Depressed nasal bridge, Tapered finger, Wide nasal bridge, R...	OMIM:601088
Kabuki Syndrome 1	Congenital hip dislocation, Protruding ear, Atrial septal defect, Prominent fingertip pads, Recur...	OMIM:147920
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation	OMIM:619083
Proteus Syndrome	Abnormal finger morphology, Abnormal form of the vertebral bodies, Renal cyst, Clinodactyly of th...	ORPHA:744
Trichothiodystrophy	Epicanthus, Multiple joint contractures, Ventricular septal defect, Recurrent bronchopulmonary in...	ORPHA:33364
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Lymphangiectasis, Renal cyst	OMIM:602579
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Ventricular septal defect, Posteriorly rotated ears, Small hand, 2-3 toe syndactyly, ...	OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Hypospadias, Overlapping toe, Broad nasal tip, Micrognathia, Tapered fing...	OMIM:309590
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Hydrocephalus, Postaxial hand polydactyly, Anencep...	ORPHA:2189
Orofaciodigital Syndrome Xix	Epicanthus, Toe syndactyly, Broad hallux, Underfolded helix, Type A brachydactyly, Postaxial hand...	OMIM:620107
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Short neck...	ORPHA:124
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts...	ORPHA:284
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Scoliosis, Short nose	OMIM:300749
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal p...	OMIM:600057
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Kyph...	OMIM:610915
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Beck-Fahrner Syndrome	Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Protruding ear, Hip dysplasia, P...	OMIM:618798
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Coffin-Siris Syndrome 12	Synophrys, Protruding ear, Patent foramen ovale, Simple ear, Facial palsy, Highly arched eyebrow,...	OMIM:619325
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Ventricular septal defect, Sandal gap, Broad nasal tip, Short neck, Long f...	OMIM:620330
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cran...	OMIM:229400
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Micrognathia, Cardiomegaly, Arthrogryposis multiplex co...	OMIM:608013
Hyperlysinemia	Recurrent pneumonia, Pulmonary artery hypoplasia, Thin eyebrow, Hypoplasia of the antihelix, Hypo...	ORPHA:2203
Occipital Horn Syndrome	Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Broad clavicles, Pectus excavatum,...	OMIM:304150
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose	OMIM:613038
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Micrognathia, Cardiomegaly, Prominent nose, Patent ductus arteriosus, ...	ORPHA:96191
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Atrial septal defect, Abnormal dental pulp mo...	ORPHA:363700
Branchiooculofacial Syndrome	Preaxial hand polydactyly, Depressed nasal bridge, Hypospadias, Renal agenesis, Hyperlordosis, Sh...	OMIM:113620
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bi...	ORPHA:522077
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Tuberous Sclerosis 1	Dental enamel pits, Renal cyst, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal cell c...	OMIM:191100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Short humerus, Short femur, Patent ductus arteriosus, Flexion c...	ORPHA:17
Joubert Syndrome 22	Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Narrow chest, Small earlobe, Genu...	OMIM:264090
Feingold Syndrome 1	Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Micrognathia, Short thumb, Short...	OMIM:164280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Ing...	ORPHA:83617
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Cadds	Short nose, Micrognathia	ORPHA:369942
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Lipoatrophy, Absent eyelashe...	ORPHA:363618
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short neck,...	OMIM:261540
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead...	ORPHA:89936
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Broad hallux, Deviation of the hallux, Short neck, ...	ORPHA:434179
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas...	OMIM:608670
Retinitis Pigmentosa 74	Optic disc pallor, Polydactyly	OMIM:616562
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Ventricular septal defect, Bronchiectasis, Uterine prolapse, Emphysema, Peripher...	OMIM:123700
Hardikar Syndrome	Lacrimal duct stenosis, Ventricular septal defect, Thoracolumbar scoliosis, Patent ductus arterio...	OMIM:301068
Macrocephaly/Autism Syndrome	Short nose, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling	OMIM:605309
Joubert Syndrome 30	Postaxial hand polydactyly, Ptosis	OMIM:617622
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Prominent nose, Long nose, Micrognathia, Bulb...	ORPHA:3047
Axial Osteomalacia	Renal cyst	OMIM:109130
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Uplifted earlobe, Pectu...	OMIM:235730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital encephaloc...	OMIM:615287
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Left ventricular noncompaction car...	OMIM:300967
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Small hand, Abnormal antihelix morphology, Clinodactyly of the 5th fi...	ORPHA:952
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Sprengel anomaly, Abnormality of the vertebral column, Abnormal ri...	OMIM:601076
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub...	ORPHA:99646
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
White-Kernohan Syndrome	Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne...	OMIM:619426
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, O...	OMIM:614947
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Ankyloblepharon, Poplitea...	ORPHA:1300
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces...	OMIM:130050
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Sensorineural hearing...	OMIM:619575
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Abnormality of the orbital region, A...	ORPHA:42775
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati...	ORPHA:141099
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Short finger, Ureterocele, B...	ORPHA:1934
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Hypospadias, Short neck, Broad nasal tip, Micrognathia,...	ORPHA:495875
Pyknoachondrogenesis	Palpebral edema, Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac ...	ORPHA:3003
Trichohepatoenteric Syndrome 1	Wide nose, Anteverted nares, Ventricular septal defect, Hypospadias, Avascular necrosis of the ca...	OMIM:222470
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Deeah Syndrome	Cervical hemivertebrae, Overlapping fingers, Short neck, Micropenis, Scoliosis, Prominent nasal t...	OMIM:619004
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Stroke-like episode, Polycyst...	ORPHA:137675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Calcaneo...	ORPHA:261552
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo...	ORPHA:369929
Sotos Syndrome	Flexion contracture, Conductive hearing impairment, Atrial septal defect, Chronic otitis media, A...	ORPHA:821
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Calcaneo...	ORPHA:261537
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Inguinal hernia, Ventricular septal defect, Membranoproliferative glomerulonephritis, ...	OMIM:619525
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Overlapping toe, Pate...	OMIM:616682
Digeorge Syndrome	Renal dysplasia, Pilonidal sinus, Inguinal hernia, Ventricular septal defect, Femoral hernia, Ren...	OMIM:188400
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Calcaneo...	ORPHA:2152
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Depressed nasal bridge, Hypospadias, Urolithiasis, Hyperuricosuria, Short no...	OMIM:300661
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persis...	OMIM:618775
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Single...	OMIM:309801
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares	ORPHA:79134
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T...	OMIM:259770
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Pulmonary lym...	OMIM:613254
Choanal Atresia	Nasal congestion, Polydactyly, Chronic sinusitis	ORPHA:137914
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Lissencephaly 9 With Complex Brainstem Malformation	Epicanthus, Ventricular septal defect, Low-set ears	OMIM:618325
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Multiple renal cysts, Talipes equinovarus, Reduced renal corticomedulla...	OMIM:618733
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Single transverse palmar crease, Abnormal curvature of the vert...	OMIM:619475
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Chylopericardium, Hematuria, Pulmonary lym...	ORPHA:538
Bardet-Biedl Syndrome 21	Postaxial hand polydactyly	OMIM:617406
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Finger clinodactyly, Short palm, Premature arteriosclerosi...	ORPHA:79474
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Sensorineural hearing impairment, Re...	ORPHA:209905
Trichothiodystrophy 1, Photosensitive	Short nose, Retrognathia, Flexion contracture, Absence of subcutaneous fat	OMIM:601675
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi...	OMIM:619268
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aor...	OMIM:614921
Polydactyly, Postaxial, Type A6	Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger	OMIM:615226
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Short femur, Ventricular septal defect, Genu valgum, Microtia, Downslanted palpebral ...	OMIM:617798
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Hearing abnormality, Abnormality of the pulmonary artery	ORPHA:1065
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Flexion contracture, Renal hypoplasia, Micropenis, Genu valgum, Short nose, Convex...	OMIM:619321
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Single transverse...	OMIM:607932
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Prominent nasal bridge, Kyphoscoli...	ORPHA:466791
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal...	ORPHA:26793
Von Hippel-Lindau Disease	Back pain, Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, R...	ORPHA:892
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Metatarsus add...	ORPHA:513456
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Almond-sha...	ORPHA:438213
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Pancreatic cysts, Depresse...	ORPHA:731
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Hearing impairment, Abnormal rib morphology, Palmopla...	ORPHA:2907
Von Hippel-Lindau Syndrome	Pancreatic cysts, Spinal hemangioblastoma, Renal cell carcinoma, Multiple renal cysts, Epididymal...	OMIM:193300
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease, Ureterocele	OMIM:614863
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Sensorineural hearing impairment, Proximal placeme...	ORPHA:139471
Leigh Syndrome	Multiple joint contractures, Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, G...	ORPHA:506
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect, Wide nasal bridge, Depressed nasal tip	OMIM:619306
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Elb...	ORPHA:2554
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Sensorineural hearing impairment, Coarctation of aorta, Hypoplastic le...	OMIM:618748
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Mitral valve...	OMIM:175050
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy...	ORPHA:699
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f...	OMIM:620024
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur...	ORPHA:2908
Liver Disease, Severe Congenital	Inguinal hernia, Recurrent urinary tract infections, Depressed nasal bridge, Left atrial enlargem...	OMIM:619991
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Flexion contracture, Corneal scarring, Talipes equinovarus, Low-set ea...	OMIM:614653
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Multiple pulmonary cysts, Epicanthus, Ventricular septal defect, Bilateral sensorineural hearing ...	OMIM:619418
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Osteoporosis of ve...	ORPHA:95494
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Vertigo, Clubbing, Aortopulmonary window, Ab...	ORPHA:97214
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
Pmm2-Cdg	Mandibular prognathia, Pericarditis, Multiple joint contractures, Anteverted nares, Prominent nas...	ORPHA:79318
Holoprosencephaly 9	Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Prominent antihelix, Holoprose...	OMIM:610829
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Transient ischemic attack, Pulmonary arteriovenous malformation, Cer...	OMIM:610655
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Johanson-Blizzard Syndrome	Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Underdeveloped nasal alae, Situs ...	OMIM:243800
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520

Histopathology

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

There is no histopathology data for Ptk7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptk7.

No publications found that use IMPC mice or data for Ptk7.

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

MGI Allele	Allele Type	Produced
Ptk7^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ptk7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ptk7^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ptk7 MGI:1918711

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

Adult LacZ

X-ray

MicroCT E14.5-E15.5

Embryo LacZ

Human diseases caused by Ptk7 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data