Gene Summary

Name:
SMG9 nonsense mediated mRNA decay factor
Synonyms:
smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans),  1500002O20Rik,  N28092

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
exencephaly Smg9em1(IMPC)J HOM E18.5 0.00
decreased thigmotaxis Smg9em1(IMPC)J HET Early adult 7.95×10-06
hyperactivity Smg9em1(IMPC)J HET Early adult 6.11×10-05
decreased mean corpuscular hemoglobin concentration Smg9em1(IMPC)J HET Early adult 5.76×10-06
abnormal behavior Smg9em1(IMPC)J HET Early adult 7.98×10-06
decreased circulating glucose level Smg9em1(IMPC)J HET   Early adult 2.13×10-05
preweaning lethality, complete penetrance Smg9tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal embryo size Smg9em1(IMPC)J HET E18.5 0.00
abnormal embryo size Smg9em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Smg9em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Gross Morphology Embryo E18.5

Images

6 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Ear epidermis immunophenotyping

Images

3 Images

Legacy Phenotype Associated Images

View all 25 images

Human diseases caused by Smg9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Smg9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heart And Brain Malformation Syndrome
Cerebral atrophy, Anteverted nares, Prominent metopic ridge, Low-set ears, Aplasia/Hypoplasia of ... OMIM:616920

The table below shows human diseases predicted to be associated to Smg9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Trisomy 13
Cryptorchidism, Hydronephrosis, Abnormal rib morphology, Scoliosis, Ventricular septal defect, Na... ORPHA:3378
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Abnormal heart morphology, Delayed puberty, Radial d... OMIM:233270
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Generalized osteoporosis, Abnormality of finger, Radial head subluxation... ORPHA:536471
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Shoulder subluxation, Duplication of phalanx of hand, Clinodac... ORPHA:508498
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Stankiewicz-Isidor Syndrome
Absent thumb, Pineal cyst, 2-3 toe syndactyly, Patent ductus arteriosus, Ureteral duplication, Cr... OMIM:617516
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Contracture of the pro... OMIM:186000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Clinodactyly, Cystic hygroma, Patent ductus arteriosus, Low-set ears, Double ou... OMIM:618164
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Abnormality of the vertebral column, Syndactyly, Co... ORPHA:294975
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Hand clenching, Ventricular septal d... ORPHA:1692
Koolen-De Vries Syndrome Due To A Point Mutation
Fetal pyelectasis, Hypothyroidism, Developmental cataract, Primary adrenal insufficiency, Recurre... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fetal pyelectasis, Hypothyroidism, Developmental cataract, Primary adrenal insufficiency, Recurre... ORPHA:363958
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Carpal osteolysis, Osteoporosis, Double outlet right ventricle, Papilledema, Ventricul... ORPHA:371428
Phaver Syndrome
Pterygium, Short thumb, Abnormal rib morphology, Ventricular septal defect, Hypoplastic aortic ar... ORPHA:2876
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Low-set ears, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Wid... OMIM:301022
Alg9-Cdg
Ureteral hypoplasia, Progressive microcephaly, Underdeveloped nasal alae, Hydronephrosis, Abnorma... ORPHA:79328
Catel-Manzke Syndrome
Overriding aorta, Ulnar deviation of the 2nd finger, Short neck, Cystic hygroma, Single transvers... OMIM:616145
Frontonasal Dysplasia 1
Widow's peak, Broad nasal tip, Clinodactyly, Coloboma, Bifid nose, Anterior basal encephalocele, ... OMIM:136760
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Low-set ears, Atrial septal defect, Hydronephrosis, Hemiverteb... OMIM:220210
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Bulbous nose... ORPHA:284169
1Q21.1 Microdeletion Syndrome
Foot polydactyly, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger, Microcephaly, I... ORPHA:250989
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Abnormal helix morphology, Patent ductus arteriosus, Atrial septal def... ORPHA:1120
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cryptorchidism, 11 pairs of ribs, Dextrocardia, Microcephaly, Ventricular sept... OMIM:264480
Sandestig-Stefanova Syndrome
Clinodactyly, Developmental cataract, Highly arched eyebrow, Short neck, Convex nasal ridge, Angu... OMIM:618804
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Low-set ears, 11 pairs of ribs, Sandal gap, Clinodactyly of the 5th finger,... OMIM:617877
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Arthrogryposis multiplex con... OMIM:616570
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Craniosynostosis, Atrial septal defect, Hand polydactyly, Coarctation of aor... ORPHA:261243
Heart And Brain Malformation Syndrome
Cerebral atrophy, Anteverted nares, Prominent metopic ridge, Low-set ears, Aplasia/Hypoplasia of ... OMIM:616920
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger, Double outlet right ventricle, Sc... OMIM:179613
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Depressed nasal ridge, Hearing impairment, Hydronephrosis, Microcephaly, Hyp... ORPHA:1727
Fg Syndrome Type 1
Abnormal thumb morphology, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Optic nerve... ORPHA:93932
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Double outlet right ventricle, Highly arched eyebrow, Scoliosis, Ventricular sept... OMIM:618316
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, 2-3 toe syndactyly, Low-set ears, Cutaneous syndactyly, Atrial septal defect, S... OMIM:600987
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cerebral atrophy, Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Atrial septal defect, ... OMIM:614300
Holoprosencephaly
Diabetes insipidus, Proteinuria, Cryptorchidism, Thick eyebrow, Panhypopituitarism, Aplasia/Hypop... ORPHA:2162
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Short statur... OMIM:613005
Charge Syndrome
Abnormal cranial nerve morphology, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger... ORPHA:138
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Hydronephrosis, Astigmatism, Optic nerve hypoplasia, Double outlet right ventricl... OMIM:301056
Trisomy 1Q
Abnormality of the outer ear, Cryptorchidism, Hydronephrosis, Abnormal rib morphology, Multicysti... ORPHA:261344
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Maternal diabetes, Patent d... ORPHA:860
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Hydronephrosis, Narrow nose, Clinodactyly of the 5th finger, Highly arched eyebro... OMIM:618454
Osteopathia Striata-Cranial Sclerosis Syndrome
Asymmetry of the thorax, Scoliosis, Coarse metaphyseal trabecularization, Increased bone mineral ... ORPHA:2780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Vertebral segmentation defect, Sacral dimple, Short thorax, Patent duc... OMIM:618845
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Widely patent coronal suture, Osteoporosis, Microcepha... ORPHA:2409
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia, Short stature, Hydrocephalus, Delayed puberty ORPHA:141333
Craniofaciofrontodigital Syndrome
Hyperintensity of cerebral white matter on MRI, Osteoporosis, Congenital, generalized hypertricho... ORPHA:363705
Polysyndactyly With Cardiac Malformation
Renal cyst, Atrial septal defect, Syndactyly, Duplication of phalanx of hallux, Polyhydramnios, P... OMIM:263630
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Spina bifida, Patellar dislocation... OMIM:274000
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Accessory spleen, Bile duct proliferation, Cryptorchidism, Radial... OMIM:249000
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Abnormality... ORPHA:101028
Gm1 Gangliosidosis
Cherry red spot of the macula, Broad nasal tip, Macroglossia, Inguinal hernia, Scoliosis, Ventric... ORPHA:354
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Long nose, Dysplastic corpus callosum, Premature ovarian insufficiency... ORPHA:363444
Transaldolase Deficiency
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Short neck, Atrial septal def... OMIM:606003
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Micromelia, Scoliosis, Ventricular septal defect, Scapular winging, Genu... OMIM:618870
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Clinodactyly, Underdeveloped nasal alae, Prot... OMIM:311200
Intellectual Developmental Disorder, Autosomal Dominant 21
Single transverse palmar crease, Sacral dimple, Patent ductus arteriosus, Long eyelashes, Atrial ... OMIM:615502
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bulbous nose, Broad hallux, Coarctation of aorta, M... OMIM:612474
Autosomal Dominant Polycystic Kidney Disease
Renal cyst, Pyelonephritis, Enlarged kidney, Nephrolithiasis, Pancreatic cysts, Aortic root aneur... ORPHA:730
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Missing ribs, Vertebral hypoplasia, Cryptorchidism, Optic nerve hypoplasi... OMIM:206900
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Highly arched eyebrow, Microcephaly, Coloboma, In... ORPHA:329224
Alg12-Cdg
Progressive microcephaly, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Retinal det... ORPHA:79324
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... OMIM:306955
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Abnormal pinna morphology, Foot dorsiflexor weakness, Patent foramen ovale, 2-3... ORPHA:477817
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Patent ductus arteriosus, Cholestasis, Atrial septal defect, ... OMIM:208540
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Cupped ear, Wormian bones, Short femoral neck, Low-set ears, Atrial septal d... OMIM:617159
Jacobsen Syndrome
Missing ribs, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the eyebrow, Multicystic kidn... ORPHA:2308
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Long nose, Hepatic failure, Multiple small medullary renal cys... OMIM:118450
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Broad nasal tip, Unilateral renal agenesis, Thick eyebrow, Cli... ORPHA:508488
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Hydronephrosis, Inguinal hernia, Single ventricle, Ventricular... OMIM:601186
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Ectopic kidney, Foot polydactyly, Agenesis of corpus callosum, Short palm... ORPHA:268249
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Inguinal hernia, Pointed proximal second through fifth metacarpals, Scoliosis, Meta... OMIM:253010
Charge Syndrome
Hypothyroidism, Radial head subluxation, Cryptorchidism, Dysplastic tricuspid valve, Hydronephros... OMIM:214800
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Perisyl... ORPHA:280195
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Alg3-Cdg
Abnormal pinna morphology, Osteopenia, Abnormality of limb bone morphology, Cataract, Abnormality... ORPHA:79321
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Pineal cyst, Short neck, Thick eyebrow, Upper limb undergrowth, Wide nasa... ORPHA:529962
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular ... OMIM:265380
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Mosaic Trisomy 16
Clinodactyly, Single coronary artery origin, Short thumb, Abnormal thorax morphology, Short forea... ORPHA:1708
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Cryptorchidism, Abnormal mitral valve morphology, Cerebral arter... ORPHA:1192
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Low-set ears, Atrioventricular canal defect, Cryptorchidism, Supernu... OMIM:618929
Carpenter Syndrome 1
Genu varum, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Clinodacty... OMIM:201000
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Astigmatism, Microcephaly, Ventricular septal defect, Short nose,... OMIM:244450
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microphthalmia, Hypoplasia of the brainstem OMIM:615771
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, 11 pairs of ribs, Microcephaly, Micromelia, Oligohydramnios, Large hands, Hip dis... OMIM:210710
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Dextrocardia With Unusual Facies And Microphthalmia
Supernumerary ribs, Anophthalmia, Dextrocardia, Microphthalmia, Vertebral fusion, Macrotia, Verte... OMIM:221950
Acrocardiofacial Syndrome
Foot polydactyly, Cryptorchidism, Mitral stenosis, Ventricular septal defect, Hallux valgus, Join... ORPHA:2008
Microphthalmia, Syndromic 2
Broad nasal tip, Hypothyroidism, Developmental cataract, Hammertoe, Cryptorchidism, Thick eyebrow... OMIM:300166
Isolated Klippel-Feil Syndrome
Webbed neck, Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal cranial ne... ORPHA:2345
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Low-set ears, Atrial septal defe... OMIM:617478
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Sclerocornea, Cryptorchidism... ORPHA:77298
Duane-Radial Ray Syndrome
Small thenar eminence, Renal malrotation, Hydronephrosis, Sandal gap, Short thumb, Scoliosis, Ven... OMIM:607323
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Renal malrotation, Radial club hand, Sandal gap, Short thumb, Coloboma... ORPHA:959
Kabuki Syndrome
Vertebral clefting, Cryptorchidism, Hydronephrosis, Highly arched eyebrow, Microcephaly, Coloboma... ORPHA:2322
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Meckel Syndrome, Type 4
Bowing of the long bones, Intrauterine growth retardation, Atrial septal defect, Molar tooth sign... OMIM:611134
Neu-Laxova Syndrome 1
Clinodactyly, Pterygium, Cryptorchidism, Microcephaly, Lissencephaly, Spina bifida, Micromelia, V... OMIM:256520
Phace Association
Developmental cataract, Patent ductus arteriosus, Optic atrophy, Optic nerve hypoplasia, Coarctat... OMIM:606519
Mucolipidosis Type Iii
Hearing abnormality, Abnormal hip bone morphology, Hypoplastic inferior ilia, Abnormal heart valv... ORPHA:577
Distal Monosomy 10Q
Widow's peak, Clinodactyly, Abnormality of the outer ear, Functional abnormality of the bladder, ... ORPHA:96148
Fanconi Anemia, Complementation Group B
Renal agenesis, Absent thumb, Bilateral radial aplasia, Hydrocephalus, Short neck, Patent ductus ... OMIM:300514
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Abnormal ske... ORPHA:284
Noonan Syndrome 10
Cryptorchidism, Scoliosis, Mitral stenosis, Ventricular septal defect, Left ventricular hypertrop... OMIM:616564
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Abruzzo-Erickson Syndrome
Brachydactyly, Chorioretinal coloboma, Toe syndactyly, Atrial septal defect, Microcornea, Cryptor... ORPHA:921
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Recurrent otitis media, Single transverse palmar crease, 2... ORPHA:3304
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormality of the palmar creases, Atrial septal ... OMIM:618652
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cryptorchidism, Astigmatism, Tapered finger, Cone-shaped epiphysis, Coloboma, Scoliosis, Hallux v... OMIM:618659
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Recurrent otitis media, Hammertoe, Cryptorchidism, Hydronephrosis, Sho... OMIM:270400
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Hydronephrosis, Dextrocardia, Microcephaly, Micromeli... ORPHA:99776
Velocardiofacial Syndrome
Tetralogy of Fallot, Abnormality of the ear, Underdeveloped nasal alae, Bulbous nose, Posterior e... OMIM:192430
Noonan Syndrome 9
Webbed neck, Short neck, Cryptorchidism, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis,... OMIM:616559
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Noonan Syndrome 2
Cryptorchidism, Mitral stenosis, Ventricular septal defect, Arthrogryposis multiplex congenita, A... OMIM:605275
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Atrial septal defect, Cryptorchidism, Narrow nose, Coarctation of aorta, Pectus excava... OMIM:617602
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Shoulder subluxation, Retinal detachment, Osteoporosis, Generalized joint laxity, Limb muscle wea... ORPHA:1900
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased pineal volume, Macroglossia, Increased circulating androgen concentrati... ORPHA:769
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Recurrent otitis media, Cholestasis, Cryptorchidism, Thick eyebrow, Cl... OMIM:619503
Myhre Syndrome
Clinodactyly, Generalized muscle hypertrophy, Cryptorchidism, Thick eyebrow, Cone-shaped epiphysi... OMIM:139210
Cranioectodermal Dysplasia 1
Clinodactyly, Hepatic failure, Fibular hypoplasia, Radial deviation of finger, Osteoporosis, Fine... OMIM:218330
Robinow Syndrome
Broad nasal tip, Acromesomelia, Missing ribs, Tricuspid atresia, Cryptorchidism, Hydronephrosis, ... ORPHA:97360
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Craniofacioskeletal Syndrome
Brachydactyly, Narrow iliac wing, Absent gallbladder, Short palm, Patent ductus arteriosus, Atria... OMIM:300712
Phace Syndrome
Hypothyroidism, Heterochromia iridis, Cerebral arteriovenous malformation, Optic nerve hypoplasia... ORPHA:42775
Kleefstra Syndrome
Tracheomalacia, Cryptorchidism, Hydronephrosis, Highly arched eyebrow, Macroglossia, Microcephaly... ORPHA:261494
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Cystic Echinococcosis
Abnormality of the vertebral column, Renal cyst, Abnormality of the testis size, Abnormality of t... ORPHA:400
Kabuki Syndrome 2
Broad nasal tip, Recurrent otitis media, Highly arched eyebrow, Microcephaly, Atrioventricular ca... OMIM:300867
Genitopalatocardiac Syndrome
Renal cyst, Low-set ears, Double outlet right ventricle, Right aortic arch, Ventricular septal de... OMIM:231060
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Missing ribs, Short thorax, Block vertebrae, Dextrocardia, Situs inversus total... OMIM:613686
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Left ventricular noncompaction, Cryptorchidism, Scoliosis, Ventricula... OMIM:300967
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Underdeveloped nasal alae, Overhanging nasal tip, Cryptorchidism, Hydronephrosis, Bulbous tips of... ORPHA:163979
Stevenson-Carey Syndrome
Anteverted nares, Underdeveloped nasal alae, Low-set ears, Atrial septal defect, Microphthalmia, ... OMIM:611961
Mucopolysaccharidosis, Type Iva
Large elbow, Osteoporosis, Inguinal hernia, Pointed proximal second through fifth metacarpals, Sc... OMIM:253000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Underdeveloped nasal alae, Cryptorchidism, Optic nerve hypoplasia, Slow-growing hair... OMIM:617506
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Cryptorchidism, Highly arched eyebrow, Macroglossia, Microcephaly, Inguinal h... ORPHA:96147
Restrictive Dermopathy
Aplasia/Hypoplasia of the clavicles, Dextrocardia, Premature delivery because of cervical insuffi... ORPHA:1662
Verheij Syndrome
Renal agenesis, Cerebral atrophy, Renal cyst, Clinodactyly, Short neck, Renal hypoplasia, Short 5... OMIM:615583
Pallister-Hall Syndrome
Unilateral renal agenesis, Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary a... ORPHA:672
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Cerebral atrophy, Hepatic failure, Renal tubular dysfunction, Patent ductus arter... OMIM:614886
Mucopolysaccharidosis, Type Vi
Avascular necrosis, Macroglossia, Inguinal hernia, Hypoplastic iliac wing, Anterior wedging of L2... OMIM:253200
X-Linked Intellectual Disability, Nascimento Type
Developmental cataract, Lumbar hypertrichosis, Underdeveloped nasal alae, Cryptorchidism, Double ... ORPHA:163956
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Floating-Harbor Syndrome
Epididymal cyst, Broad nasal tip, Long nose, Clinodactyly, Mesocardia, Cryptorchidism, Hydronephr... ORPHA:2044
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Ubiquitin-positive cerebral inclusion bodies, Abnormality of the vertebral column, Sensory axonal... ORPHA:52430
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Multic... ORPHA:1052
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Spina bifida, Ren... ORPHA:93323
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Diastasis recti, Frontal hirsutism,... ORPHA:96334
Diabetic Embryopathy
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Microcephaly, Ventricu... ORPHA:1926
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Feingold Syndrome Type 1
Tricuspid atresia, Hydronephrosis, Clinodactyly of the 5th finger, Short thumb, Microcephaly, Sho... ORPHA:391641
Mosaic Variegated Aneuploidy Syndrome 2
Clinodactyly, Hypothyroidism, Round ear, Single transverse palmar crease, Craniosynostosis, Bulbo... OMIM:614114
Frank-Ter Haar Syndrome
Broad nasal tip, Abnormally large globe, Osteoporosis, Double outlet right ventricle, Ventricular... OMIM:249420
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Anteverted nares, Pineal cyst, Tracheomalacia, Sparse lateral eyebrow, Os... ORPHA:513456
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Cryptorchidism, Hydronephrosis, Tapered finger, Macroglossia, Microcephaly, Ventric... OMIM:301040
Pallister-Hall Syndrome
Hypothalamic hamartoma, Preductal coarctation of the aorta, Radial head subluxation, Cryptorchidi... OMIM:146510
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Broad nasal tip, Delayed ossification of carpal bones, Progressive microcephaly, S... OMIM:617425
Koolen-De Vries Syndrome
Cryptorchidism, Hydronephrosis, Microcephaly, Pear-shaped nose, Scoliosis, Recurrent urinary trac... OMIM:610443
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Abnormality of the outer ear, Crypto... ORPHA:94065
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Tapered fing... ORPHA:251014
Kbg Syndrome
Underdeveloped nasal alae, Cryptorchidism, Thick eyebrow, Congenital malformation of the left hea... ORPHA:2332
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Cystic renal dysplasia, Splenogonadal fusion, Cryptorchidism, Type I t... OMIM:156810
Arnold-Chiari Malformation Type I
Tinnitus, Cervical C2/C3 vertebral fusion, Areflexia of upper limbs, Adult onset sensorineural he... ORPHA:268882
Meckel Syndrome
Accessory spleen, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Multicystic kidney d... ORPHA:564
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus ... OMIM:608978
Opitz Gbbb Syndrome
Widow's peak, Abnormal corpus callosum morphology, Tracheomalacia, Cryptorchidism, Hydronephrosis... ORPHA:2745
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Thick eyebrow, Clinodactyly of the 5th finger, Highly arched eyebrow, Microce... OMIM:614701
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Maternal Phenylketonuria
Brachydactyly, Deviated nasal septum, Tetralogy of Fallot, Clinodactyly, Bifid distal phalanx of ... ORPHA:2209
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Microcephaly, Optic disc pallor, Perimembranous ventricular septal... OMIM:619170
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Optic nerve hypoplasia, R... ORPHA:370959
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Joint stiffness, Cryptorchidism, Congenital di... ORPHA:1166
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, Wormian bones, Delayed eruption of teeth, Patent ductus arteriosus, Long eyelashes... ORPHA:2863
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Polycystic kidney dysplasia, Chorioretinal hypopigmentation, Cortical... ORPHA:805
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cerebral atrophy, Homocystinuria, Methylmalonic aciduria, Atrial septal defect, Cryptorchidism, C... OMIM:614857
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Thick eyebrow, Astigmatism, Enuresis, Convex nasal ridge, Clinodactyly... ORPHA:369950
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Intrauterine growth retardation, Atrial septal defect, Overlapping... OMIM:618142
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Microcephaly, Increased... ORPHA:17
Primary Ciliary Dyskinesia
Recurrent otitis media, Double outlet right ventricle, Anomalous pulmonary venous return, Conduct... ORPHA:244
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... OMIM:173900
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Abnormal rib cage morpholog... OMIM:256030
Hardikar Syndrome
Premature rupture of membranes, Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferatio... OMIM:301068
Walker-Warburg Syndrome
Abnormal cortical gyration, Cryptorchidism, Retinal detachment, Retinal dysplasia, Microcephaly, ... ORPHA:899
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short neck, Cataract, Microphthalmia,... ORPHA:1617
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Broad nasal tip, Hepatoblastoma, Central hypothyroidism, Hydronephr... ORPHA:798
Prune Belly Syndrome
Cryptorchidism, Abnormal rib morphology, Multicystic kidney dysplasia, Scoliosis, Recurrent urina... ORPHA:2970
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Underdeveloped nasal alae, Cryptorchidism, Hydronephrosis, Macroglossia, Microcep... ORPHA:453499
Fryns Syndrome
Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Nar... ORPHA:2059
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Congenital hypothyroidism, Hypoplasia of right ventricle, Vent... ORPHA:2255
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Floating-Harbor Syndrome
Epididymal cyst, Recurrent otitis media, Mesocardia, Cryptorchidism, Hydronephrosis, Clinodactyly... OMIM:136140
Achondroplasia
Brachydactyly, Genu varum, Bowing of the legs, Trident hand, Recurrent otitis media, Short femora... OMIM:100800
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Coarctation of aorta, Macular coloboma, Facial palsy, Interrupted aortic arch, Retinal coloboma OMIM:107550
3C Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal mitral valve morphology, Hydronephrosis, Ing... ORPHA:7
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Webbed neck, Wide nose, Butterfly vertebrae, Low-set e... OMIM:619227
Double Outlet Right Ventricle
Tetralogy of Fallot, Abnormality of cartilage of external ear, Double outlet right ventricle, Pul... ORPHA:3426
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Molar tooth sign... OMIM:615665
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Microcephaly, Inguinal hernia, Ventricular septal defect, Diabetes mellitus, Interrup... OMIM:600001
Nemaline Myopathy 3
Dilated cardiomyopathy, Nemaline bodies, EMG: myopathic abnormalities, Decreased fetal movement, ... OMIM:161800
Methimazole Embryofetopathy
Hypothyroidism, Abnormality of the thyroid gland, Coarctation of aorta, Choanal atresia, Polyhydr... ORPHA:1923
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Scimitar Syndrome
Abnormality of the vertebral column, Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia... ORPHA:185
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Broad nasal tip, Hashimoto thyroiditis, Double outlet right ventricle, Scoliosis, Decreased respo... OMIM:618223
Microphthalmia, Lenz Type
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Clinodactyly of the 5t... ORPHA:568
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Retinal degeneration, Short ribs, Polydactyly, Scoliosis, Short long bone, Narrow ... OMIM:613819
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Developmental cataract, Colpocephaly, Agenesis of corpus callosum, F... OMIM:618651
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Broad hallux, ... OMIM:217095
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, Toxemia of pregnancy, 11 pairs of ribs... OMIM:215140
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of toe, Horseshoe kidney, Osteopenia, Recurrent fractures, Corneal opacity, Hypophosp... OMIM:163200
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Cryptorchidism, Wide nasal bridge, Congenital diaphragmatic hernia... OMIM:615524
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Kyphosis, Ovoid vertebra... ORPHA:40
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Hydrops fetalis, Aplastic clavicle, Preaxial polydactyly, Mo... OMIM:616546
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Retinopathy, Cerebral atrophy, Agenesis of corpus callosum, Absent septum... ORPHA:2396
Blomstrand Lethal Chondrodysplasia
Broad clavicles, Distal shortening of limbs, Narrow chest, Short nose, Bowing of the long bones, ... ORPHA:50945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Short stature, Polydactyly OMIM:617405
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Distal Monosomy 15Q
Broad nasal tip, Cryptorchidism, Generalized joint laxity, Multicystic kidney dysplasia, Hypoplas... ORPHA:1596
Blackfan-Diamond Anemia
Developmental cataract, Short thumb, Microcephaly, Ventricular septal defect, Renal agenesis, Rad... ORPHA:124
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Coronal cleft vertebrae, Accelerated ... OMIM:618363
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Alagille Syndrome
Long nose, Cholestasis, Cryptorchidism, Clinodactyly of the 5th finger, Abnormal rib morphology, ... ORPHA:52
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI, Polydactyly, Ventricular septal defect,... OMIM:614815
Multiple Synostoses Syndrome 1
Carpal synostosis, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Astigmatism, Absent... OMIM:186500
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Abnormali... ORPHA:2538
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hypothyroidism, Perineal hypospadias, G... ORPHA:66634
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Short neck, Patent foramen ovale, Bulbous nose, Low-set ears, Cryptorchidism, Macro... OMIM:616789
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Congenital Sialidosis Type 2
Hydrocephalus, Cherry red spot of the macula, Developmental cataract, Hepatosplenomegaly, Low-set... ORPHA:93400
Meckel Syndrome, Type 8
Anophthalmia, Encephalocele, Short neck, Depressed nasal ridge, Low-set ears, Polydactyly, Microp... OMIM:613885
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Abnormality of femoral ep... ORPHA:750
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Optic nerve hypoplasia, Micropenis, Joint la... OMIM:610125
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal rib morphology, Microcephaly, Inguinal hernia, Scoliosis, Rib fusion, An... ORPHA:2311
Holt-Oram Syndrome
Abnormal rib morphology, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventr... ORPHA:392
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Hydronephrosis, Coloboma, Patellar dislocation, Recurrent urinary tract infection... ORPHA:353281
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Intrauterine growth retardation, Knee flexion contracture, Short stature, Preaxial hand polydacty... OMIM:606242
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Micr... OMIM:113000
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Recurrent otitis media, Hashimoto thyroiditis, Osteoporosis, Hypoplastic left ... ORPHA:99413
Mosaic Monosomy X
Biliary cirrhosis, Recurrent otitis media, Hashimoto thyroiditis, Osteoporosis, Hypoplastic left ... ORPHA:99228
Monosomy X
Biliary cirrhosis, Recurrent otitis media, Hashimoto thyroiditis, Osteoporosis, Hypoplastic left ... ORPHA:99226
Turner Syndrome
Biliary cirrhosis, Recurrent otitis media, Hashimoto thyroiditis, Osteoporosis, Hypoplastic left ... ORPHA:881
Isolated Polycystic Liver Disease
Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly, Back pain, Vascular dilatati... ORPHA:2924
Focal Dermal Hypoplasia
Broad nasal tip, Patchy alopecia, Brittle hair, Foot polydactyly, Diastasis recti, Cryptorchidism... OMIM:305600
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
22Q11.2 Deletion Syndrome
Hypothyroidism, Foot polydactyly, Small earlobe, Tricuspid atresia, Cryptorchidism, Abnormal aort... ORPHA:567
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of ... ORPHA:1354
Koolen-De Vries Syndrome
Hypothyroidism, Underdeveloped nasal alae, Cryptorchidism, Aplasia/Hypoplasia of the corpus callo... ORPHA:96169
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Osteoporosis, Scoliosis, Shor... OMIM:251450
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Tricuspid atresia, Pulmonary artery hypoplasia, Diastasis rect... ORPHA:1686
Benign Schwannoma
Hearing abnormality, Abnormality of the liver, Schwannoma, Abnormal cranial nerve morphology, Ver... ORPHA:252164
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Widow's peak, Hypoplastic anterior commissure, Cryptorchidism, Clinodactyly of the 5th finger, Mi... OMIM:616975
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Abnormal rib morphology, Scoliosis, Narrow chest,... ORPHA:90652
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Optic nerve hypoplasia, Decreased thyroid-stimulating hormone level, Macroglo... ORPHA:226307
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Oculoectodermal Syndrome
Short neck, Patent ductus arteriosus, Atrial septal defect, Microcornea, Supernumerary nipple, Hy... OMIM:600268
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Horseshoe kidney, Patent ductus arteriosus, Low-... OMIM:617088
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Trichiasis, Cryptorchidism, Hydronephrosis, Highly arched ey... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Trichiasis, Cryptorchidism, Hydronephrosis, Highly arched ey... ORPHA:353277
Digeorge Syndrome
Unilateral renal agenesis, Hypothyroidism, Recurrent otitis media, Hydronephrosis, Ovarian cyst, ... OMIM:188400
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Acromesomelia, Tapered finger, Coronary artery atherosclerosis, Sco... ORPHA:435638
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Cryptorchidism, Micropenis, Muscular dystroph... OMIM:613156
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short thumb, Microcephaly, Ventricular septal defect, Narrow chest, Short neck,... OMIM:105650
Lateral Meningocele Syndrome
Coarse hair, Cryptorchidism, Inguinal hernia, Abnormal rib cage morphology, Scoliosis, Vertebral ... OMIM:130720
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Recurrent otitis media, Cho... ORPHA:261552
Weill-Marchesani Syndrome 2
Astigmatism, Broad palm, Scoliosis, Spinal canal stenosis, Ventricular septal defect, Thickened h... OMIM:608328
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Meckel Syndrome, Type 2
Bowing of the long bones, Intrauterine growth retardation, Anencephaly, Polydactyly, Dandy-Walker... OMIM:603194
Opitz gbbb syndrome, type II
Widow's peak, Diastasis recti, Cryptorchidism, Inguinal hernia, Ventricular septal defect, Patent... OMIM:145410
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, Sandal gap, Clinodactyly of the 5th finger, Highly arched eyebrow, Mic... ORPHA:261330
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Macular atrophy, Nephronophthisis, Vascular dilatation OMIM:616307
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Scapular winging, Centrally nucleated skeletal mu... ORPHA:437572
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Hydronephrosis, Spina bifida, Aplasia/Hypoplasia of the ribs... ORPHA:2839
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Agenesis of corpus callosum, Patent ductus arteriosus, Coarctation of aorta, Microcep... OMIM:617260
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb, Ventricular septal defect ORPHA:3434
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Cryptorchidism, Sandal gap, Clinodactyly of the 5t... ORPHA:1106
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Bulbous nose, Postaxial polydactyly, Low-set ears, Sandal gap, Astigmati... OMIM:615761
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Short neck, Flexion contracture, Kyphosis, Increased variability in muscl... OMIM:300718
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Recurrent otitis media, Chordee, Cryptorchidism, Hydronephro... ORPHA:261537
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Agenesis of corpus callosum, Abnormality of epiphysis morph... ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cataract, Corneal opacity, Retinal detachment, Muscular dystrophy, Microphthalmia, Colobo... OMIM:613153
Cohen Syndrome
Thick eyebrow, Tapered finger, Microcephaly, Bone spicule pigmentation of the retina, Genu valgum... OMIM:216550
Kapur-Toriello Syndrome
Cryptorchidism, Short thumb, Scoliosis, Ventricular septal defect, Retinal coloboma, Short neck, ... OMIM:244300
Mucopolysaccharidosis Type 4
Abnormal rib morphology, Scoliosis, Spinal canal stenosis, Genu valgum, Bowing of the long bones,... ORPHA:582
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Prominent superficial veins, Increased vertebral height, Cryptorchidism, Renal hy... OMIM:616817
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Colpocephaly, Patent foramen ovale, Patent du... OMIM:301043
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Broad nasal tip, Hypothyroidism, Underdeveloped nasal alae, Cryptorchidism, Hydronephrosis, Optic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Broad nasal tip, Hypothyroidism, Underdeveloped nasal alae, Cryptorchidism, Hydronephrosis, Optic... ORPHA:352665
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Hypoplasia of the corpus callosum, Thoracic scoliosis, Kyphosis, Skeletal muscle a... OMIM:603387
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Fanconi Anemia, Complementation Group I
Hypothyroidism, Astigmatism, Optic nerve hypoplasia, Short thumb, Microcephaly, Ventricular septa... OMIM:609053
King-Denborough Syndrome
Broad nasal tip, Minicore myopathy, Thoracic kyphosis, Short neck, Webbed neck, Low-set ears, Cry... OMIM:619542
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Dextrocardia, Double outlet right ventricle OMIM:618254
Ctcf-Related Neurodevelopmental Disorder
Broad nasal tip, Cryptorchidism, Clinodactyly of the 5th finger, Thick eyebrow, Sandal gap, Highl... ORPHA:363611
Schimke Immunoosseous Dysplasia
Coarse hair, Proteinuria, Astigmatism, Fine hair, Opacification of the corneal stroma, Thoracic k... OMIM:242900
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Broad nasal tip, Cupped ear, Patent ductus arteriosus, Thin corpus callosum, Low-set ears, Tapere... OMIM:619480
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Clinodactyly, Developmental cataract, Scoliosis, Nephrocalcinosis, Th... ORPHA:557003
Distal Tetrasomy 15Q
Hydronephrosis, Polycystic kidney dysplasia, Scoliosis, Hypoplastic aortic arch, Flexion contract... ORPHA:314588
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal cyst, Enlarged kidney, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Neonatal... OMIM:263200
Klippel-Trénaunay Syndrome
Upper limb asymmetry, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Hematuria, A... ORPHA:90308
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Congenital diaphrag... ORPHA:380
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Decreased fetal movement, Knee flexion c... OMIM:600175
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Lumbar hyperlordos... OMIM:255600
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Cryptorchidism, Cataract, Arthrogryposis multiplex congenita, Hydrocephalus,... ORPHA:250994
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Portal hypertension, Multiple small medu... OMIM:216360
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Single transverse palmar crease, Delayed eruption of teeth, Prelingual sensorineura... ORPHA:73272
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Conotruncal defect, Atrial septa... ORPHA:3097
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Urinary glycosaminoglycan excretion, Macroglossia, Hypertrichosis, Conjunctivitis, S... ORPHA:505248
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal corpus callosum morphology, Abnormal mitral valve morphology, Papilledema, Macroglossia,... ORPHA:217093
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Uraciluria, Microphthalmia, Coloboma, Microcephaly... OMIM:274270
Lateral Meningocele Syndrome
Cryptorchidism, Atresia of the external auditory canal, Inguinal hernia, Scoliosis, Ventricular s... ORPHA:2789
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst, Sandal gap, Astigmatism, Conductive hearing impairment, Microcephaly, Low-set, poste... OMIM:618885
Mowat-Wilson Syndrome
Recurrent otitis media, Chordee, Cryptorchidism, Hydronephrosis, Astigmatism, Abnormal hippocampu... ORPHA:2152
Limb Body Wall Complex
Abnormality of the vertebral column, Aplasia of the proximal phalanges of the hand, Diastasis rec... ORPHA:2369
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Esophageal Atresia
Renal agenesis, Clinodactyly, Tetralogy of Fallot, Abnormality of the ear, Absence of stomach bub... ORPHA:1199
Nail-Patella Syndrome
Knee pain, Abnormal iris pigmentation, Proteinuria, Clinodactyly of the 5th finger, Osteoporosis,... ORPHA:2614
Proboscis Lateralis
Unilateral renal agenesis, Abnormal corpus callosum morphology, Optic nerve hypoplasia, Ventricul... ORPHA:141099
Aarskog-Scott Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Broad palm, Inguinal hernia, Small hand, Short ne... ORPHA:915
Distal Trisomy 14Q
Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the upper uri... ORPHA:1705
De Barsy Syndrome
Premature rupture of membranes, Abnormal corpus callosum morphology, Progressive microcephaly, Cr... ORPHA:2962
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Low-set ears, Cryptorchidism, Clinodactyly of the 5th finger, Short 5th finger, P... ORPHA:397590
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Abnormality of the vertebral column, Epiphyseal stippling of toe phalanges, Calc... ORPHA:79345
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger, Pancreatic islet-... ORPHA:373
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Hypophosphatemic rickets, Osteomalacia, Stippled calcification of the ... ORPHA:51608
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Hypoplasia of the corpus callosum, Atrial septal defect, Sandal gap, Highly ... OMIM:300887
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Occipital encephalo... OMIM:612284
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Cystic hygroma, Depressed nasal ridge, Low-set ears, Thin ribs, Joint disloc... OMIM:312150
Martsolf Syndrome 1
Broad nasal tip, Developmental cataract, Tracheomalacia, Cryptorchidism, Broad fingertip, Microce... OMIM:212720
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Thick eyebrow, Clinodactyly of the 5th finger, Abnormal rib morphology, Microc... ORPHA:3268
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Recurrent otitis media, Chordee, Cryptorchidism, Muscle hypertrophy of the lower ... ORPHA:1772
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Poland Syndrome
Abnormality of the outer ear, Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing... ORPHA:2911
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract, Hepatomegaly OMIM:607906
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrot... OMIM:619657
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Thick eyebrow, Clinodactyly of the 5th finger, Highly arched eyebrow, Microcephal... OMIM:180849
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Cryptorchidism, Cata... ORPHA:1387
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Camptodactyly of finger, Ventricular septal defect, Hallux valgus, Tibial torsion, ... OMIM:602782
Proteus Syndrome
Lymphangioma, Venous malformation, Splenomegaly, Limbal dermoid, Depressed nasal bridge, Spinal c... OMIM:176920
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Irritability, Separation... ORPHA:66624
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Horseshoe kidney, Sacral dimple, Microcephaly, Coloboma, Bicuspid aortic valve, Low h... OMIM:619318
Basal Cell Nevus Syndrome
Cardiac fibroma, Ovarian carcinoma, Bifid ribs, Spina bifida, Scoliosis, Vertebral fusion, Hemive... OMIM:109400
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Short neck, Joint stiffness, Kyphosis, Flared iliac wing, Hyperlo... OMIM:252605
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Ivic Syndrome
Absent thumb, Small thenar eminence, Tetralogy of Fallot, Carpal synostosis, Hypoplasia of the ul... OMIM:147750
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Cerebral atrophy, Hypoplasia of the corpus callosum, Unilateral renal... OMIM:614576
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Coarctation of... OMIM:217085
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Knee flexion contracture, Lumbar hyperlordosis, Congenital foot co... OMIM:602484
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Generalized osteoporosis, Abnormal ilium morphology, Irregularity of vertebral bodies... ORPHA:1159
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Retinal detachment, Abnormal joint morphology, Delay... ORPHA:485
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Papilledema, Macroglossia, Inguinal hernia, Spinal canal stenos... ORPHA:217085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Congenital muscular dystrophy, Shoulder girdle muscle atro... OMIM:606612
Srd5A3-Cdg
Abnormal sacrum morphology, Hypothyroidism, Palmoplantar keratoderma, Kyphosis, Cataract, Optic d... ORPHA:324737
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Acromesomelia, Blue irides, Short toe, Protruding ear, Lumbar kyphosis in infanc... ORPHA:3041
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Cystic hygroma, Depressed nasal ridge, Low-set ears, Thin ribs, Joint disloc... OMIM:253290
Acrocallosal Syndrome
Cryptorchidism, Hypopigmentation of the fundus, Aplasia/Hypoplasia of the corpus callosum, Clinod... OMIM:200990
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Pulmonic stenosis, Coarctation of aorta, Abnorm... ORPHA:3092
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypothyroidism, 2-4 toe cutaneous syndactyly, Short 5th metacarpal, I... OMIM:618569
Suleiman-El-Hattab Syndrome
Clinodactyly, Frontal hirsutism, Cryptorchidism, Thick eyebrow, Hydronephrosis, Highly arched eye... OMIM:618950
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Williams Syndrome
Proteinuria, Genu valgum, Abnormal carotid artery morphology, Cholelithiasis, Abnormality of the ... ORPHA:904
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Short neck, Central Y-shaped metacarpal, Low-set ears, Promine... OMIM:617926
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Preaxial polydactyly, Polydactyly, Talipes equinovarus, Encephalocele, Synd... OMIM:603671
Schwartz-Jampel Syndrome
Abnormally straight spine, Osteoporosis, Abnormal rib morphology, Microcephaly, Protrusio acetabu... ORPHA:800
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Hammertoe, Cryptorchidism, Sandal gap, Astigmatism, Equ... ORPHA:536532
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Acromesomelia, Cryptorchidism, Hydronephrosis, Astigmatism, Clinodacty... ORPHA:464306
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Atlantoaxial instability, Os odontoideum, Spondylolysis, Joint laxity, Limb ... OMIM:600561
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Abnormal mitral valve morphology, Papilledema, Macroglossia, In... ORPHA:580
Hadziselimovic Syndrome
Tetralogy of Fallot, Hypoplasia of the corpus callosum, Low-set ears, Atrial septal defect, Renal... OMIM:612946
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Decreased liver function, Hepatic cysts, Polycystic kidney dys... OMIM:600666
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Foot polydactyly, Ir... ORPHA:220493
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Polyhydramnios, Sho... OMIM:615503
Anauxetic Dysplasia 2
Brachydactyly, Flexion contracture, Short neck, Hypoplasia of the femoral head, Thoracolumbar kyp... OMIM:617396
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Holoprosencephaly... OMIM:611638
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Molar tooth sign on MRI, Anencephaly, Postaxial hand polydactyly, Hyd... OMIM:614120
Nephronophthisis 13
Nephronophthisis, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Polydactyly, Retinal dystrop... OMIM:614377
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Congenital muscular dystrophy, Occipital encephalocele, Retinal dysplasia... ORPHA:324416
Ring Chromosome 21 Syndrome
Clinodactyly, Diabetes insipidus, Abnormal thorax morphology, Narrow palm, Microcephaly, Abnormal... ORPHA:1445
Craniofacial Microsomia
Block vertebrae, Vertebral hypoplasia, Atresia of the external auditory canal, Multicystic kidney... OMIM:164210
20Q13.33 Microdeletion Syndrome
Sacral dimple, Facial hypotonia, Bulbous nose, Abnormality of limb bone morphology, Atrial septal... ORPHA:261311
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Large earlobe, Cavum septum pellucidum, Joint laxity, Polydactyly, Microphthalmia,... OMIM:602501
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of retinal pigmentation, Cataract, Co... ORPHA:290
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Diabetes insipidus, Cholestasis, Broad first metatarsal, Bile duct proliferati... OMIM:619534
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Kyphosis, Sensorineural hearing impairment, Microcephaly, Lumbar hyperlordosis,... OMIM:616756
Nanophthalmos 2
Microphthalmia OMIM:609549
Noonan Syndrome 1
Clinodactyly, Woolly hair, Cryptorchidism, Ventricular septal defect, Brachydactyly, Short neck, ... OMIM:163950
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Cerebellar atrophy, Intrauterine growth retardation OMIM:616171
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Cerebellar vermis hypop... OMIM:277170
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Tapered finger, Scoliosis, Decreased muscle mass,... ORPHA:536516
Doors Syndrome
Abnormality of toe, Broad nasal tip, Hydronephrosis, 11 pairs of ribs, Clinodactyly of the 5th fi... ORPHA:79500
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Webbed neck, Short neck, Joint stiffness, Underdeveloped nasal alae, Renal hypopl... ORPHA:2516
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Neoplas... ORPHA:100085