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Gene: Smg9 MGI:1919247

Gene Summary

Name:

SMG9 nonsense mediated mRNA decay factor

Synonyms:

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

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal behavior	Smg9^em1(IMPC)J	HET	Early adult	8.05×10^-06
decreased circulating glucose level	Smg9^em1(IMPC)J	HET	Early adult	2.19×10^-05
preweaning lethality, complete penetrance	Smg9^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
exencephaly	Smg9^em1(IMPC)J	HOM	E18.5	0.00
abnormal embryo size	Smg9^em1(IMPC)J	HET	E18.5	0.00
decreased thigmotaxis	Smg9^em1(IMPC)J	HET	Early adult	8.03×10^-06
hyperactivity	Smg9^em1(IMPC)J	HET	Early adult	6.30×10^-05
decreased mean corpuscular hemoglobin concentration	Smg9^em1(IMPC)J	HET	Early adult	5.56×10^-06
preweaning lethality, complete penetrance	Smg9^em1(IMPC)J	HOM	Early adult	0.00
abnormal embryo size	Smg9^em1(IMPC)J	HOM	E18.5	0.00

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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

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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Anti-nuclear antibody assay

Images

1 Images

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Auditory Brain Stem Response

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

8 Images

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Ear epidermis immunophenotyping

Images

3 Images

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Legacy Phenotype Associated Images

Smg9^{tm1b(EUCOMM)Wtsi}
HET, Female, WTSI

View all 25 images

Smg9^{tm1b(EUCOMM)Wtsi}
HOM, Female, WTSI

Smg9^{tm1b(EUCOMM)Wtsi}
abnormal tail morphology, kinked tail, HET, Female, WTSI

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.

Human diseases associated with Smg9 (2 diseases)
Human diseases predicted to be associated with Smg9 (1806 diseases)

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		Attached earlobe, Prominent metopic ridge, Anteverted nares, Ventricular septal defect, Camptodac...	OMIM:616920
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies		Sacral dimple, Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Lon...	OMIM:619995

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

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Trisomy 13	Anophthalmia, Hydrops fetalis, Narrow chest, Atrial septal defect, Iris coloboma, Bilateral singl...	ORPHA:3378
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Lymp...	ORPHA:536471
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact...	OMIM:233270
Schizophrenia 15	Hyperactivity	OMIM:613950
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
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
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Promin...	OMIM:617516
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Coloboma, Abnorm...	ORPHA:508498
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Prominent fingertip pads, Patent foramen ovale, Cryptorchidism, Renal hypop...	OMIM:618494
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal thorax morphology, Upper limb phocomelia, Abnormal heart mor...	ORPHA:294975
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os...	ORPHA:371428
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon...	ORPHA:2876
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn...	ORPHA:1692
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Alg9-Cdg	Short neck, Hydrops fetalis, Right ventricular dilatation, Large fleshy ears, Narrow greater scia...	ORPHA:79328
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Clinodactyly of the 5th finger, Iris coloboma, Broad hallux phalanx, Crypt...	ORPHA:250989
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormo...	OMIM:220210
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Sing...	ORPHA:508488
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Prominent nose, Synophrys, Atrial septal defect, Pulmona...	OMIM:618316
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge...	ORPHA:284169
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Urethral stenosis, Depressed nasal ridge, Anterior creases ...	ORPHA:1727
Verheij Syndrome	Branchial cyst, Vertebral fusion, Joint laxity, Truncus arteriosus, Ventricular septal defect, An...	OMIM:615583
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu...	ORPHA:1120
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363958
16P13.11 Microduplication Syndrome	Arachnodactyly, Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aor...	ORPHA:261243
Frontonasal Dysplasia 1	Pectoral muscle hypoplasia/aplasia, Coloboma, Conductive hearing impairment, Wide nasal bridge, S...	OMIM:136760
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Fg Syndrome Type 1	Single transverse palmar crease, Prominent nose, Generalized joint laxity, Abnormal sternum morph...	ORPHA:93932
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Cerebellar hypoplasia, Talipes equinovarus, Microphthalmia, Arthrogryp...	OMIM:616570
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Recombinant Chromosome 8 Syndrome	Atrial septal defect, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Poster...	OMIM:179613
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormality of th...	ORPHA:2162
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest...	OMIM:615415
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, 11 pairs of ribs, Sandal gap, Anteverted nares, Posteriorly rotated ears, Pectus exca...	OMIM:617877
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Polyhydramnios, Pulmonary artery atresia, Vesicoureteral reflux, Micropenis,...	OMIM:301056
Sandestig-Stefanova Syndrome	Decreased fetal movement, Prominent metopic ridge, Laterally extended eyebrow, Rocker bottom foot...	OMIM:618804
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Encephalo...	OMIM:264480
Charge Syndrome	Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypo...	ORPHA:138
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig...	OMIM:618845
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle...	OMIM:274000
Trisomy 1Q	Anophthalmia, Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Multicystic kidne...	ORPHA:261344
Heart And Brain Malformation Syndrome	Attached earlobe, Prominent metopic ridge, Anteverted nares, Ventricular septal defect, Camptodac...	OMIM:616920
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Prominent nose, Bilateral cryptorchidism, P...	OMIM:180849
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Decreased fetal movement, Edema, Short neck, Cryptorchidism, Patent ductus arterios...	OMIM:608104
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Anteverted nares, Polyhydramnios, Preaxial hand polydactyl...	OMIM:263630
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Cataract, Posteriorly rotated ears, Fa...	ORPHA:2780
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Sotos Syndrome	Accelerated skeletal maturation, Otitis media, Conductive hearing impairment, Atrial septal defec...	OMIM:117550
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect...	OMIM:600987
Transaldolase Deficiency	Abnormality of the kidney, Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy,...	ORPHA:101028
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, J...	OMIM:620210
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia	ORPHA:141333
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Polyhydra...	ORPHA:363705
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Tap...	OMIM:617159
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ...	OMIM:306955
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Renal cyst,...	OMIM:618454
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid ca...	OMIM:118450
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ...	OMIM:618870
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Patent ...	OMIM:615502
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Short neck, Splenomegaly, Patent...	OMIM:606003
Chromosome 9P Deletion Syndrome	Short neck, Atrial septal defect, Micropenis, Long toe, Anteverted nares, Depressed nasal bridge,...	OMIM:158170
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Bilateral cryptorch...	ORPHA:2409
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Joint laxity, Wide nose, Overriding aorta...	ORPHA:477817
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Depressed...	OMIM:613885
Gm1 Gangliosidosis	Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bodies, Cherry red spot of...	ORPHA:354
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Oculoectodermal Syndrome	Transient ischemic attack, Depressed nasal bridge, Supernumerary nipple, Short neck, Lymphedema, ...	OMIM:600268
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Orofaciodigital Syndrome I	Dry hair, Hepatic fibrosis, Sparse hair, Syndactyly, Alopecia, Myelomeningocele, Wide nasal bridg...	OMIM:311200
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Low anterior hairline, Protrud...	ORPHA:329224
Microphthalmia, Syndromic 3	Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Micropenis, V...	OMIM:206900
Microphthalmia, Syndromic 9	Anophthalmia, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary artery atresia, Di...	OMIM:601186
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Posterior rib fusion, At...	OMIM:265380
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Overlapping toe, Hypospadias, Hearing impairment, Abnormality...	ORPHA:363444
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Hearing imp...	ORPHA:2345
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Tubulointerstitial nephri...	OMIM:218330
Mosaic Trisomy 16	Single transverse palmar crease, Maternal diabetes, Atrial septal defect, Abnormality of the cerv...	ORPHA:1708
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conductive hearing impair...	OMIM:157800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Dextrocardia, Supernumerary nipple, Posteriorly rotated ears, Cryptorchid...	OMIM:618929
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t...	OMIM:214800
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Sparse eyelashes, Rocker bottom foot, Polyhydramnios, Tapered finger, P...	OMIM:620070
Alg12-Cdg	Proximal placement of thumb, Polyhydramnios, Edema, Abnormal peripheral nervous system morphology...	ORPHA:79324
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Ectopic kidney, Hydro...	ORPHA:268249
Neu-Laxova Syndrome 1	Micromelia, Short neck, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Depres...	OMIM:256520
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Microcornea, Clinodactyly of the 5...	OMIM:201000
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Iris coloboma, Long hallux, Broad...	ORPHA:2308
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect...	OMIM:611134
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint...	ORPHA:1192
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Prominent nose, Delayed epiphyseal ossif...	OMIM:210710
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Iris coloboma, Accessory splee...	OMIM:249000
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,...	ORPHA:959
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Mucolipidosis Type Iii	Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Joint stiffness...	ORPHA:577
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, La...	OMIM:300166
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Prominent nose, Wide nasal bridge, Perimembranous ventricular sept...	OMIM:618205
Orofaciodigital Syndrome Xviii	Short stature, Single transverse palmar crease, Sandal gap, Postaxial polydactyly, Preaxial polyd...	OMIM:617927
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Scle...	ORPHA:77298
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c...	OMIM:618652
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Pedal edema, Abnormal sternum morphology, Abnormal verteb...	ORPHA:284
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Single transverse palmar crease, Frontal hirsutism, Cryptorchidism, Patent duct...	ORPHA:3304
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr...	ORPHA:2322
Acrocardiofacial Syndrome	Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hyperthyroidism,...	ORPHA:2008
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Microcornea, Atrial septal defect, S...	OMIM:244450
Velocardiofacial Syndrome	Retinal vascular tortuosity, Hypoparathyroidism, Posterior embryotoxon, Inguinal hernia, Ventricu...	OMIM:192430
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Pectus carinatum, Coarse hair, Thickened helices, Atrial septal defec...	OMIM:617506
Noonan Syndrome 9	Curly hair, Hydroureter, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, S...	OMIM:616559
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Short neck, Prominent nose, Synophrys, Pr...	OMIM:612474
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturation, Methylmal...	OMIM:614857
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular sept...	OMIM:617602
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Conductive hearing impairment, Sensorineu...	ORPHA:921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ven...	OMIM:613155
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Distal joint laxity, Ge...	ORPHA:1900
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Noonan Syndrome 10	Prominent corneal nerve fibers, Short neck, Pectus carinatum, Atrial septal defect, Sparse eyebro...	OMIM:616564
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Coloboma, Vesicoureteral reflux, Broad hallux, Hypospadias, Tapered finger, Cryptorchidism, Short...	OMIM:618659
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Glandular hypospadias, Nephro...	OMIM:136140
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Absent thumb, S...	OMIM:300514
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anterior hypopituitarism, Cent...	ORPHA:280195
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Alg3-Cdg	Osteopenia, Cataract, Abnormal pinna morphology, Abnormality of the nose, Abnormality of the endo...	ORPHA:79321
Robinow Syndrome	Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, High anterior hairline, Fused thor...	ORPHA:97360
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Asplenia, Polyhydramnios, Hemivertebrae, Hydrops fet...	ORPHA:99776
Senior-Loken Syndrome 8	Global glomerulosclerosis, Retinal dystrophy, Hepatic cysts, Macular atrophy, Glomerular subepith...	OMIM:616307
Noonan Syndrome 2	Polyhydramnios, Short neck, Pectus carinatum, Abnormal sternum morphology, Atrial septal defect, ...	OMIM:605275
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydacty...	OMIM:615996
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnorma...	ORPHA:96148
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Atr...	ORPHA:769
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Premature delivery because of cerv...	ORPHA:1662
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ...	ORPHA:175
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Short neck, Synophrys, Pineal cyst, Vesico...	ORPHA:529962
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Sparse hair, Broad ribs, Vertebral fusi...	OMIM:139210
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Kabuki Syndrome 2	Protruding ear, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal defect, Jo...	OMIM:300867
Kleefstra Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Thickened helices, Advanced er...	ORPHA:261494
Craniofacioskeletal Syndrome	Barrel-shaped chest, Absent gallbladder, Atrial septal defect, Ventricular septal defect, Choanal...	OMIM:300712
Phace Syndrome	Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Hypothyroidi...	ORPHA:42775
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	ORPHA:94065
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping fingers, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxi...	OMIM:618142
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, Atrial septal defect, Prominent fingertip pads, Vesicoure...	OMIM:610443
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A...	ORPHA:93323
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Atrial septal defect, Micropeni...	ORPHA:163979
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Premature ...	OMIM:615873
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Redundant neck skin, Maternal diabetes, Short ...	OMIM:300855
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Orofaciodigital Syndrome Vi	Tibial bowing, Conductive hearing impairment, Central Y-shaped metacarpal, Hypothalamic hamartoma...	OMIM:277170
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Redundant neck skin, Single transverse palmar crease, Polyhy...	ORPHA:96334
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle...	OMIM:615297
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Abnormal number of hair whorls, Mitral atresia, ...	OMIM:618164
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of ...	ORPHA:457395
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Short neck, Pectus carinatum, Clinodactyly of...	OMIM:616145
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Dep...	OMIM:614114
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Stiff...	ORPHA:268882
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency...	ORPHA:672
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Anteverted nares, Posteriorly rotated ears, Underdeveloped na...	OMIM:611961
Floating-Harbor Syndrome	Enlarged joints, Short neck, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atr...	ORPHA:2044
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Prominent nose, Curly eyel...	OMIM:301022
Lateral Meningocele Syndrome	Decreased muscle mass, Bicuspid aortic valve, Short neck, Coarse hair, Conductive hearing impairm...	OMIM:130720
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Abnormally large globe...	OMIM:249420
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Holoprosenceph...	OMIM:270400
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata...	OMIM:608978
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Clinodactyly of t...	ORPHA:1052
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Crypto...	OMIM:615524
Joubert Syndrome 15	Molar tooth sign on MRI, Preaxial polydactyly, Exencephaly	OMIM:614464
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern...	ORPHA:2255
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv...	OMIM:617425
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Short neck, Sparse eyebrow,...	ORPHA:3338
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Overlapping fingers, Broad hallux, Overlapping toe, Short hallux, Triangular shape...	OMIM:618167
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Hyperlordosis, Conductive hearing impairment, Sens...	ORPHA:557003
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Kbg Syndrome	Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf...	ORPHA:2332
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Underdeveloped superior crus of antihelix, Posteriorly rotated ears, M...	ORPHA:369950
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Coloboma, Vertebral segm...	ORPHA:251014
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Synophrys, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Generali...	ORPHA:163956
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch	OMIM:107550
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Feingold Syndrome Type 1	Short middle phalanx of the 2nd finger, Conductive hearing impairment, Vesicoureteral reflux, Cli...	ORPHA:391641
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Patent fo...	OMIM:620305
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d...	ORPHA:2970
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Renal hypoplasia/aplasia, Crypt...	ORPHA:2863
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Carcino...	ORPHA:805
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Depressed nasal ridge, Microcornea, U...	ORPHA:564
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Cataract, Camptodactyly of finger, Short neck,...	ORPHA:1617
Myopathy, Distal, 1	Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla...	OMIM:160500
Down Syndrome	Prenatal double bubble sign, Redundant neck skin, Single transverse palmar crease, Hypoplastic il...	OMIM:190685
Diabetic Embryopathy	Ureteral duplication, Abnormality of the neck, Vertebral segmentation defect, Micropenis, Abnorma...	ORPHA:1926
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Coloboma, Vertebral segmentation defect, Atrial septal defect,...	ORPHA:453499
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Anteverted nares, Inguinal hernia, Highly arched eyebro...	ORPHA:96147
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Vertebral segmentation defect, Atrial septal defect, Vesicourete...	ORPHA:2745
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol...	OMIM:615665
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly	OMIM:619170
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri...	OMIM:301068
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Houge-Janssens Syndrome 3	Inguinal hernia, Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal de...	OMIM:618354
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cataract, Optic nerve hy...	ORPHA:370959
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Prominent nasal bridge, Postaxial polydactyly, Morning ...	OMIM:614424
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, 2-3 toe ...	ORPHA:1596
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve compression, Osteoly...	ORPHA:52430
Congenital Myopathy 2A, Typical, Autosomal Dominant	Decreased fetal movement, Facial palsy, Polyhydramnios, Spinal rigidity, Hyperlordosis, Dilated c...	OMIM:161800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Patent foramen ovale, Hep...	ORPHA:17
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Short neck, Hemivertebrae, Abnormal tricuspid valve morp...	ORPHA:7
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Polyhydramnios, Hypospadias, Abnormality of the thyro...	ORPHA:1923
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Depressed nasal bridge, Abnormality of cartilage o...	ORPHA:3426
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Decreased response to growth hor...	OMIM:213980
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Greenberg Dysplasia	Micromelia, Polyhydramnios, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mi...	OMIM:215140
Hyperlysinemia, Type I	Hyperactivity, Anemia	OMIM:238700
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi...	OMIM:613686
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodact...	OMIM:614701
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Knee flexi...	OMIM:606242
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Choanal stenosis, Hepatoblas...	ORPHA:798
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Elevate...	OMIM:614300
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Joint st...	ORPHA:40
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Low anterior ha...	OMIM:618223
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short neck, Prominent nose, 2-3 toe ...	OMIM:609625
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal a...	ORPHA:244
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Renal hypoplasia/apl...	ORPHA:1166
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Distal shortening...	ORPHA:50945
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Decreased fetal movement, Delayed closure of the anterior fontanel...	OMIM:614886
Fryns Syndrome	Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Abnormal aortic arch morphology, Nar...	ORPHA:2059
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Myofibrillar Myopathy 11	Decreased fetal movement, Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctati...	OMIM:619178
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hemivertebrae, Micropenis, Anteverted nares, Depressed nasal bridge, Hypospadias, Tapered finger,...	OMIM:301040
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Otitis media, Atrial...	ORPHA:353281
Birk-Aharoni Syndrome	Duplicated collecting system, Cryptorchidism, Muscular ventricular septal defect, Long nasal brid...	OMIM:620071
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Abnormality of...	ORPHA:93400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Webbed neck, Chorioretinal coloboma, Clinodactyly ...	OMIM:280000
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ...	ORPHA:881
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Alagille Syndrome	Corneal dystrophy, Long nose, Abnormal pupil morphology, Abnormal form of the vertebral bodies, P...	ORPHA:52
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, A...	OMIM:610125
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Abnormal renal mo...	ORPHA:2209
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Skeletal muscle atrophy, Neurogenic bladder, Elevated circulating aspart...	OMIM:608779
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Abnormal shoulder morphology, Microcornea, Long thorax, Chorioretin...	ORPHA:568
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Intrauterine growth retardation	ORPHA:293
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co...	OMIM:150250
Isolated Polycystic Liver Disease	Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cy...	ORPHA:2924
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Coloboma, Macroglossia, Transpo...	OMIM:616789
Yuan-Harel-Lupski Syndrome	Joint laxity, Wide nose, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Decreased ...	OMIM:616652
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Alopecia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Ab...	OMIM:163200
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate...	ORPHA:1354
Feingold Syndrome 1	Polyhydramnios, Asplenia, Accessory spleen, Anteverted nares, Short thumb, Short toe, Patent duct...	OMIM:164280
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Pectus excavatum, Muscular...	OMIM:619227
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Diamond-Blackfan Anemia	Radial artery aplasia, Short neck, Low anterior hairline, Triphalangeal thumb, Atrial septal defe...	ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Narrow nasal bridge, Joint laxity, Ventricular septal defect, Left ventricular non...	OMIM:300967
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal pinna morphology, Abnormal heart morphology, Coarctation of a...	ORPHA:261183
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture...	OMIM:300718
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial sep...	ORPHA:567
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, Otit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, Otit...	ORPHA:353277
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd...	OMIM:217085
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Talipes equinov...	OMIM:616171
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Hyperlordosis, Depressed nasa...	OMIM:615761
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Hip disloca...	OMIM:618651
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasa...	ORPHA:79345
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Nemaline Myopathy 2	Skeletal muscle atrophy, Polyhydramnios, Fatty replacement of skeletal muscle, Flexion contractur...	OMIM:256030
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Proximal placement of thumb, Prominent nose, Knee flexion contracture, A...	ORPHA:435638
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia	OMIM:618254
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cy...	OMIM:613819
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Vesic...	ORPHA:96169
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Polyhydramnios, Congenital diaphragmatic hernia, Micromelia, Aplast...	OMIM:616546
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Ventricular septal defect...	OMIM:614815
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly	OMIM:607539
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
King-Denborough Syndrome	Decreased fetal movement, Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short ...	OMIM:619542
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equ...	ORPHA:250994
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Protruding e...	ORPHA:899
Weill-Marchesani Syndrome 2	Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype...	OMIM:608328
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Digeorge Syndrome	Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat...	OMIM:188400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Decreased fetal m...	OMIM:600175
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Pectus carinatum, Finger joint hy...	OMIM:212720
Distal 22Q11.2 Microdeletion Syndrome	Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fistula, Arachnodacty...	ORPHA:261330
Chops Syndrome	Synophrys, Coarse hair, Vesicoureteral reflux, Thickened helices, Patent foramen ovale, Anteverte...	OMIM:616368
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Coloboma, Clinodactyly of the 5th finger, Vesicoureteral reflux, Patent foramen ovale...	OMIM:616975
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Congenital diaphr...	OMIM:305600
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Microphthalmia With Limb Anomalies	Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-...	ORPHA:1106
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Premature birth, Micromelia, Polyhydramnios, Fetal ascites, Accelerated s...	OMIM:215045
Hypoglycemia, Leucine-Induced	Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Diamond-Blackfan Anemia 1	Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Narrow chest, Triphalangeal t...	OMIM:105650
Distal Triplication 15Q	Corneal dystrophy, Flexion contracture, Abnormal sternum morphology, Atrial septal defect, Arachn...	ORPHA:314588
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Metatarsus a...	ORPHA:513456
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx...	ORPHA:2839
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Occipital encephalocele, Antevert...	OMIM:216360
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Abnormal cerebral vascular morphology, Increa...	ORPHA:2616
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Diabetes insipidus, Epistaxis, Alopecia, Joint stiffness, Recu...	ORPHA:397
Srd5A3-Cdg	Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm...	ORPHA:324737
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Congenital Gerbode Defect	Ventricular septal defect, Ankle swelling, Right atrial enlargement, Pedal edema, Perimembranous ...	ORPHA:99095
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, ...	ORPHA:582
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin...	OMIM:300845
Mmep Syndrome	Microphthalmia, Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigi...	OMIM:255600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph...	OMIM:615290
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni...	OMIM:312150
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc...	OMIM:618000
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Congenital sensorineural hearing impa...	ORPHA:73272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Bicuspid aortic valve, Protruding ear, Coloboma, Vertebral segmentation defect, Abnor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Bicuspid aortic valve, Protruding ear, Coloboma, Vertebral segmentation defect, Abnor...	ORPHA:352665
Lateral Meningocele Syndrome	Short neck, Abnormal form of the vertebral bodies, Conductive hearing impairment, Iris coloboma, ...	ORPHA:2789
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal finger morphol...	ORPHA:2538
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Single transverse palmar crease, Muscular ventricular septal defect, Adducted ...	OMIM:620062
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventri...	ORPHA:93267
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postax...	OMIM:617088
Esophageal Atresia	Omphalocele, Ventricular septal defect, Choanal atresia, Maternal diabetes, Polyhydramnios, Renal...	ORPHA:1199
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal eyelash morphology, Osteolysis, Coarctation of aorta, Abnorma...	ORPHA:2396
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Synophrys, Microcornea, Joint contracture of the 5th...	ORPHA:363611
Cohen Syndrome	Thoracic scoliosis, Bone spicule pigmentation of the retina, Single transverse palmar crease, Bul...	OMIM:216550
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Hypospadias, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodac...	ORPHA:397590
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excava...	OMIM:616817
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Short metatarsal, Micropenis, Hypoth...	ORPHA:1772
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th...	ORPHA:915
Congenital Disorder Of Glycosylation, Type Iit	Sandal gap, Prominent nasal bridge, Posteriorly rotated ears, Urinary incontinence, Small hand, P...	OMIM:618885
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Posteriorly rotated ears, Spina bifida, Tapered finger, Broad nasal tip, Cyst of the...	OMIM:619480
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ...	ORPHA:2614
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te...	OMIM:620389
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Coxa var...	ORPHA:2962
Inflammatory Skin And Bowel Disease, Neonatal, 2	Dehydration, Long eyelashes, Polyhydramnios, Coarctation of aorta	OMIM:616069
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Synophrys, Protruding ear, Atrial septal defect, Frontal hirsuti...	OMIM:618950
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Limb Body Wall Complex	Congenital diaphragmatic hernia, Amniotic constriction ring, Abnormality of the liver, Cutaneous ...	ORPHA:2369
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati...	OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl...	OMIM:613156
Mucolipidosis Iii Gamma	Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joi...	OMIM:252605
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Posteriorly ro...	OMIM:619657
Proteus Syndrome	Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Limbal dermoid, Lymp...	OMIM:176920
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h...	ORPHA:373
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Part...	OMIM:617926
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Abnormal pupil morpholog...	ORPHA:261552
Kapur-Toriello Syndrome	Single transverse palmar crease, Short neck, Conductive hearing impairment, Atrial septal defect,...	OMIM:244300
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencepha...	OMIM:612284
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Choroidal neovascularization, Adrenal calcification, Poly...	ORPHA:51608
Trichohepatoenteric Syndrome 1	Brittle hair, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Sparse hair, Hepatomegaly,...	OMIM:222470
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni...	OMIM:253290
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar...	OMIM:617260
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ...	ORPHA:485
Nicolaides-Baraitser Syndrome	Dry hair, Enlarged joints, Single transverse palmar crease, Short metatarsal, Low anterior hairli...	OMIM:601358
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, Sparse hair, S...	OMIM:278250
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita...	OMIM:602484
Placental Insufficiency	Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, Ab...	ORPHA:439167
Tarp Syndrome	Single transverse palmar crease, Premature rupture of membranes, Atrial septal defect, Neonatal d...	OMIM:311900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Short stature, Polyhydramnios, Postaxial polydactyly, Prea...	OMIM:615503
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217085
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Antev...	OMIM:619980
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Conjunctivitis, Atrial sept...	ORPHA:505248
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity...	ORPHA:261537
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Edema, Venous insufficiency, Patent ductus arteri...	ORPHA:90308
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Decreased liver function, Hepatic...	OMIM:600666
Proboscis Lateralis	Anophthalmia, Single naris, Microcornea, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma...	ORPHA:141099
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Pectus ...	ORPHA:171881
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Hand muscle atrophy, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-...	OMIM:600561
Basal Cell Nevus Syndrome 1	Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebra...	OMIM:109400
Williams Syndrome	Osteopenia, Periorbital edema, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalci...	ORPHA:904
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial poly...	OMIM:616300
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph...	OMIM:617396
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Polyhydramnios, Low anterior hairline, Coxa vara...	ORPHA:800
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217093
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract, Hea...	ORPHA:1705
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Prominent veins on trunk, K...	ORPHA:536532
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Genu varum, Joint laxity, Syndactyly, Lumbar hyperlordosis, Highl...	OMIM:619451
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity...	ORPHA:2152
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e...	ORPHA:3041
Noonan Syndrome 1	Short neck, Lymphedema, Abnormal sternum morphology, Atrial septal defect, Hypospadias, Cryptorch...	OMIM:163950
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Sandal gap, Posteriorly rotated ears, Congenital diap...	OMIM:300887
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Muscu...	OMIM:615181
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis	OMIM:617404
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Premature birth, Delayed skeletal maturation, Abnormality of the elbow, Synoph...	ORPHA:3268
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Distal lower limb amyotrophy, Decreased fetal movement, Congenital foot contraction deformities, ...	ORPHA:363454
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormal distal phalanx morphology of finger, Depres...	ORPHA:1387
Lissencephaly 8	Skeletal muscle atrophy, Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainst...	OMIM:617255
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Upper limb mus...	ORPHA:1435
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo...	ORPHA:1104
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, ...	OMIM:275210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a...	OMIM:611067
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Tortuosity of conjunct...	OMIM:230000
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Bicuspid aortic valve, Simple ear, Bilateral microphthalmos, Hemivertebrae, Unilat...	OMIM:619318
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Abnorm...	ORPHA:1445
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Atrial septal defec...	ORPHA:3469
20Q13.33 Microdeletion Syndrome	Hallux valgus, Low-set, posteriorly rotated ears, Sacral dimple, Dilation of Virchow-Robin spaces...	ORPHA:261311
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ...	ORPHA:65759
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Clinodact...	ORPHA:464306
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Cyclopia, Optic nerve hypoplasia, Alobar holopr...	OMIM:301043
Shashi-Pena Syndrome	Accelerated skeletal maturation, Synophrys, Atrial septal defect, Short metacarpal, Highly arched...	OMIM:617190
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Anophthalmia, Camptodactyly of finger, Corneal dystrophy, Hypoplasia of the musc...	ORPHA:1101
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Edema, Hiatus hernia, Pectus excavatum,...	OMIM:617729
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu varum, Low-set,...	ORPHA:3320
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Uraciluria, Optic atrophy	OMIM:274270
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Dextrocardia, Prominent nasal...	ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Low anterior hairline, Coloboma, Mu...	OMIM:613153
Cofs Syndrome	Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Art...	ORPHA:1466
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Hyperlordosis, Posteriorly ro...	OMIM:617450
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Cataract, Depressed nasal bridge, Ectopia lentis...	OMIM:277600
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ...	ORPHA:169186
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon...	OMIM:242900
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog...	ORPHA:580
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r...	OMIM:314390
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Metaphyseal chondrodysplasia, Renal cyst, Broad columella, Retinal degeneration, Absent eyebrow, ...	ORPHA:166035
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Dilated cardiomyopathy, Elb...	ORPHA:206546
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc...	OMIM:617925
Fumarase Deficiency	Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Increased ...	OMIM:606812
Doors Syndrome	Adrenal hyperplasia, Abnormal placental membrane morphology, Polyhydramnios, Hemivertebrae, Abnor...	ORPHA:79500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Kyp...	ORPHA:3085
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Thoracic hypoplasia, Kyphoscoliosis, Hyperlordosis, Coxa valga,...	OMIM:618363
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Abnormality of the liver, Triphalangeal ...	ORPHA:84
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Short stature, Central Y-shaped ...	ORPHA:2754
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ectopic kidney, Hemivertebrae, Anotia, Conductive hearing ...	OMIM:164210
Joubert Syndrome 17	Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o...	ORPHA:290
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Retinal dystrophy, Anophthalmia, Proximal placement of thumb, Sclero...	ORPHA:139471
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Polyhydramnios, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibi...	ORPHA:1427
Oculocerebrocutaneous Syndrome	Alopecia, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Cryptorchidism, Orbital encep...	OMIM:164180
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr...	ORPHA:324416
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Polyhydramnios, Edema, Secundum atrial septal defect, ...	OMIM:619534
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Protruding ear, Atrial septal...	OMIM:147920
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Postaxial ...	OMIM:614576
Benign Schwannoma	Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, A...	ORPHA:252164
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Anteverted nares, Promi...	OMIM:612946
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ...	OMIM:120400
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Czeizel-Losonci Syndrome	Single transverse palmar crease, Spina bifida occulta, Prominent antitragus, Posterolateral diaph...	ORPHA:2437
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l...	OMIM:305620
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, Co...	OMIM:208150
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Premature birth, Hypospadias, Short neck, Abnor...	ORPHA:2487
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Narrow nasal bridge, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal...	ORPHA:2511
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Low anterior hairline, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger,...	OMIM:220500
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydr...	ORPHA:1666
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Atrial septal defect, Joint laxity, Depressed nasal bridge, Tapered finger, Paten...	OMIM:300968
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Molar tooth s...	OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos...	OMIM:606612
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De...	OMIM:616007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Microphthalmia, Hydrocephalus, Muscular dystrophy	OMIM:614830
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, Atrial septal defect, Clinodactyly of the 5th finger, Ocular anterior segment dysgene...	OMIM:612582
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split h...	OMIM:618569
Kagami-Ogata Syndrome	Polyhydramnios, Flexion contracture, Atrial septal defect, Frontal hirsutism, Hepatomegaly, Antev...	OMIM:608149
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, At...	OMIM:194190
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Sclerocornea, Congenital diaphragma...	ORPHA:818
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Prominent ear helix, Bul...	ORPHA:411986
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Synophrys...	ORPHA:536545
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Short neck, Underdeveloped nasal alae, Joint stiffness...	ORPHA:2516
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe...	OMIM:167320
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Posteri...	OMIM:613870
8P Inverted Duplication/Deletion Syndrome	Short neck, Synophrys, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th finger, Mic...	ORPHA:96092
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Hearing impairment, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment...	OMIM:610023
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ...	OMIM:256050
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, Clinodactyly of the 5t...	ORPHA:251028
Renpenning Syndrome 1	Brittle hair, Protruding ear, Coloboma, Atrial septal defect, Clinodactyly of the 5th finger, Spa...	OMIM:309500
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ...	OMIM:618999
Wolcott-Rallison Syndrome	Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Neonat...	ORPHA:1667
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, Atrial septal de...	OMIM:268300
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl...	OMIM:268310
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas...	ORPHA:2092
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ab...	OMIM:603387
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Abno...	ORPHA:1035
Wieacker-Wolff Syndrome	Decreased fetal movement, Anteverted nares, Facial palsy, Proximal placement of thumb, Hyperlordo...	OMIM:314580
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Short neck, Knee flexion contracture, Pectus carinatum, Atrial...	OMIM:121050
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Enlarged thorax, Atriov...	ORPHA:251071
Phenobarbital Embryopathy	Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Low-set ears, Abnorma...	ORPHA:1919
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac...	OMIM:156530
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu...	ORPHA:97244
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus...	ORPHA:1507
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t...	ORPHA:163966
17Q11 Microdeletion Syndrome	Osteopenia, Multiple mucosal neuromas, Bowing of the legs, Abnormal internal carotid artery morph...	ORPHA:97685
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Anomalous origin of l...	ORPHA:2326
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Three M Syndrome 1	Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ...	OMIM:273750
Autosomal Dominant Cutis Laxa	Osteopenia, Redundant neck skin, Genu recurvatum, Abnormal curvature of the vertebral column, Pro...	ORPHA:90348
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu...	OMIM:208530
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Perlman Syndrome	Nephrogenic rest, Depressed nasal bridge, Renal hamartoma, Congenital diaphragmatic hernia, Polyh...	OMIM:267000
Schimke Immuno-Osseous Dysplasia	Short neck, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Depressed nasal bridg...	ORPHA:1830
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,...	OMIM:614779
Fetal Trimethadione Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypospadias, Synophrys, Overfolded helix, Tran...	ORPHA:1913
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Absent pulmonar...	OMIM:600460
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Chorioretinal dysplasia, Edema, Lymphedema, Protruding ear, Abnormal optic nerve mo...	ORPHA:2526
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu...	OMIM:609223
Gorlin Syndrome	Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorch...	ORPHA:377
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Retinal dystrophy, Kyphosis, Sensorineural hearing impairment, Hip dislocat...	OMIM:616756
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar...	OMIM:161200
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Tarp Syndrome	Single transverse palmar crease, Atrial septal defect, Small earlobe, Low-set, posteriorly rotate...	ORPHA:2886
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Cutaneous finger syndactyly, Choan...	OMIM:219000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Hartsfield Syndrome	Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthal...	ORPHA:2117
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct...	ORPHA:980
Myopathy, Centronuclear, 2	Decreased fetal movement, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skel...	OMIM:255200
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Hallermann-Streiff Syndrome	Metaphyseal widening, Chorioretinal coloboma, Sparse hair, Iris coloboma, Spina bifida, Hyperlord...	OMIM:234100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Polyhydramnios, Increased intervertebral space, Thoracolumbar kyphosis, L...	ORPHA:508533
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Generalized joint laxity, Pectus...	OMIM:619472
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Large...	OMIM:602501
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Scapular winging, Acute pancreatitis, Depressed nasa...	ORPHA:26791
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Prominent nasolabia...	OMIM:618524
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Adrenal insufficienc...	ORPHA:251076
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,...	OMIM:173800
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus, Short stature	OMIM:210350
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligo...	OMIM:601357
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb und...	ORPHA:2310
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic steno...	OMIM:611376
Congenital Myopathy 4A, Autosomal Dominant	Decreased fetal movement, Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Limb jo...	OMIM:255310
Chromosome 3Pter-P25 Deletion Syndrome	Synophrys, Atrioventricular canal defect, Prominent metopic ridge, Anteverted nares, Depressed na...	OMIM:613792
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ...	OMIM:609308
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Ring Chromosome 8 Syndrome	Anteverted nares, Polyhydramnios, Abnormality of the ureter, Low posterior hairline, Deviation of...	ORPHA:1450
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Promin...	ORPHA:3068
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Vitreous floaters, Broad clavicles, W...	OMIM:619698
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m...	OMIM:615156
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni...	OMIM:601803
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Po...	OMIM:615993
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98855
Tetrasomy 15Q26	Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hy...	OMIM:614846
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Short neck, Cardiomegaly, Multiple prenatal fractures, Beaded ribs, F...	OMIM:616897
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ...	OMIM:300863
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Anoph...	ORPHA:90321
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Congenital contracture, Abnormal sternum morphology, Micropeni...	OMIM:248700
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Decreased size of nerve terminals, Type 2 muscle fiber atro...	OMIM:603034
Monosomy 18Q	Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal defect, Bilateral cryptor...	ORPHA:1600
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor...	ORPHA:99050
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog...	ORPHA:3266
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Congenital Toxoplasmosis	Cardiomegaly, Hydrocephalus, Microphthalmia, Ascites, Intrauterine growth retardation	ORPHA:858
Nemaline Myopathy 7	Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal muscle, Bree...	OMIM:610687
Cerebrooculofacioskeletal Syndrome 4	Short stature, Camptodactyly of finger, Dislocated radial head, Rocker bottom foot, Bilateral mic...	OMIM:610758
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98853
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Inguinal hernia, Ventricular septal defect, Bowing of the leg...	OMIM:617107
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Cardiomegaly, Fetal akinesia sequence, Hydrops fetali...	OMIM:617022
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Brachydactyly, Short stature, Metaphyseal spurs, Postaxial polydactyly, M...	OMIM:613091
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Kyphosis, Cryp...	ORPHA:90322
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin...	OMIM:619042
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia	OMIM:615771
Codas Syndrome	Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Anteverted n...	ORPHA:1458
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Joubert Syndrome 37	Hepatomegaly, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Postax...	OMIM:619185
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Single transverse palmar crease, Biliary hyperplasia, Coarse hair, Choanal stenosis, Micropenis, ...	ORPHA:83617
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Arteria lusoria, Protruding ear, Anteverted nares, Depressed nasal bridge, Hyperlordo...	ORPHA:221139
Typical Nemaline Myopathy	Polyhydramnios, Short neck, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type ...	ORPHA:171436
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Conduct...	ORPHA:90646
Joubert Syndrome 10	Molar tooth sign on MRI, Growth delay, Postaxial polydactyly, Cerebellar vermis hypoplasia	OMIM:300804
Ck Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Hyperlordosis, Kyphosis, Scoliosis, Abnormal di...	OMIM:300831
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes...	OMIM:618624
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly	OMIM:213010
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Renal cys...	OMIM:113620
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Cataract, Rhizomelia, Anteverted nares, Depressed nas...	OMIM:222765
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, V...	ORPHA:500095
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Bowing of the legs, Short neck, Edema, Thoracic dysplasia, Narrow chest, Holopros...	OMIM:269860
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Atrial septal defect, Ventricular septal de...	ORPHA:401935
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Saethre-Chotzen Syndrome	Low anterior hairline, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hea...	ORPHA:794
Masa Syndrome	Hyperlordosis, Kyphosis, Hydrocephalus, Talipes equinovarus, Adducted thumb	OMIM:303350
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ...	OMIM:184460
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa...	ORPHA:439
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,...	ORPHA:2522
Chromosome 1P36 Deletion Syndrome, Proximal	Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Posteriorly ro...	OMIM:619343
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen...	OMIM:214300
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, P...	OMIM:601808
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop...	ORPHA:233
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal cyst, Bilateral superior vena cava with no bridging vein, Vesicourete...	OMIM:618460
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor...	OMIM:617137
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydac...	OMIM:614175
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature, 2-3 toe syndactyly...	OMIM:610313
Bardet-Biedl Syndrome 10	Renal insufficiency, Retinal dystrophy, Renal cyst, Hypogonadism, Polydactyly, Rod-cone dystrophy	OMIM:615987
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v...	ORPHA:93473
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Protruding ear, Reduced...	ORPHA:261318
Achondroplasia	Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis	ORPHA:408
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Narrow chest, Atrial septal...	OMIM:613610
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank...	ORPHA:280333
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Optic atrophy, Coloboma, Low-set...	OMIM:612379
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ventricular septal defect, Recu...	ORPHA:2772
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Prominent nasal...	OMIM:617796
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Myopat...	OMIM:243605
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Pycnodysostosis	Abnormal clavicle morphology, Persistent open anterior fontanelle, Decreased response to growth h...	ORPHA:763
Acrocallosal Syndrome	Coloboma, Clinodactyly of the 5th finger, Micropenis, Hypopigmentation of the fundus, Finger synd...	OMIM:200990
Vacterl With Hydrocephalus	Anophthalmia, Polyhydramnios, Aqueductal stenosis, Hemivertebrae, Abnormal form of the vertebral ...	ORPHA:3412
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu...	ORPHA:86812
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
You-Hoover-Fong Syndrome	Kyphoscoliosis, Hearing impairment, Pectus excavatum, Vascular ring, Coarctation of aorta, Clinod...	OMIM:616954
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Low poster...	ORPHA:1803
Adams-Oliver Syndrome	Pulmonary artery atresia, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Premature birt...	ORPHA:974
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip...	OMIM:601927
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Cataract, Camptodactyly o...	ORPHA:391474
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polyd...	OMIM:605627
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hand muscle weakness, Chronic pan...	ORPHA:98908
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Atrial septal defect, Curly hair, Arachnodactyly, Hyperlordosis, Underdeveloped nas...	OMIM:300986
Renal Tubular Dysgenesis	Premature birth, Bilateral single transverse palmar creases, Polyhydramnios, Renotubular dysgenes...	ORPHA:3033
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Tracheobronchomalacia, Synophrys, Low anterior hairline,...	OMIM:613458
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Seckel Syndrome 2	Short stature, Heart murmur, Growth delay, Cerebellar hypoplasia, Clinodactyly of the 5th finger,...	OMIM:606744
Marcus-Gunn Syndrome	Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory ...	ORPHA:91412
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Pointed helix, Holoprosencephaly, Atrial septal def...	ORPHA:3380
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Skeletal muscle atrophy, Cataract, Spinal rigidity, Hydrocepha...	OMIM:253800
Bardet-Biedl Syndrome 17	Short fourth metatarsal, Bone spicule pigmentation of the retina, Renal cyst, Micropenis, Retinal...	OMIM:615994
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Depressed nasal bridge, Dextrocardia, Ecto...	ORPHA:1571
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi...	OMIM:203500
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Situs inversus totalis,...	OMIM:609008
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased fetal movement, Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness...	ORPHA:352470
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Bohring-Opitz Syndrome	Joint dislocation, Cardiomegaly, Synophrys, Coloboma, Congenital contracture, Low-set, posteriorl...	ORPHA:97297
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int...	OMIM:607088
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Ascites, Polycystic liver disease, Renal cyst	OMIM:174050
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an...	OMIM:619910
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ...	OMIM:614294
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Abno...	ORPHA:75389
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Decreased fetal movement, Spinal rigidity, Hyperlordosis, Flexion contra...	ORPHA:157973
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi...	OMIM:251230
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Pectus carinatum, Microcornea, Male urethral meatus stenosis, At...	ORPHA:464738
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Split hand, Congenital fibrosis of extraocular muscles, ...	OMIM:157900
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thor...	ORPHA:1797
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Short neck, Prominent nose, Promine...	OMIM:305450
Turnpenny-Fry Syndrome	Polyhydramnios, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Co...	OMIM:618371
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Posteriorly rotated ears, Short neck, Patent duct...	ORPHA:2328
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears	OMIM:618295
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Microvesicular hepatic steatosis, Aortic valve atresia, Low anterior hairl...	OMIM:220111
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Microphthalmia	ORPHA:1528
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist ...	ORPHA:254528
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Abnormal card...	ORPHA:2306
Skraban-Deardorff Syndrome	Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Right aortic arch, Recurrent...	OMIM:617616
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Neonatal omphalitis, Pectus carin...	OMIM:612541
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Hearing impairment, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hy...	OMIM:617577
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Microcornea, Narrow chest, ...	OMIM:309800
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Cataract, Hyperlordosis, Right ventricular dilatatio...	ORPHA:369840
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm...	ORPHA:95494
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Abnormal curvature ...	OMIM:619475
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ...	OMIM:184250
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri...	ORPHA:365
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect	OMIM:235750
Von Willebrand Disease	Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Pectus carina...	ORPHA:93315
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Congenital diaphragmatic hernia, Epispadias,...	ORPHA:2556
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cataract, Camptodacty...	ORPHA:2635
Abruzzo-Erickson Syndrome	Hypospadias, Protruding ear, Coloboma, Radioulnar synostosis, Macrotia, Hearing impairment	OMIM:302905
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta...	OMIM:160150
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Cat Eye Syndrome	Biliary atresia, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal defect, Iris colobo...	OMIM:115470
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios...	OMIM:612562
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il...	OMIM:169550
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Short neck, Abnormality of the endocrine system, Crypt...	ORPHA:464288
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Ventricular septal defect, Cerebellar hypoplasia	OMIM:613730
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral...	OMIM:617992
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Single transverse palmar crease, Adrenal hypoplasia, Aminoaciduria, Ulnar de...	OMIM:214100
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Anteverted nares, Aplasia/hypoplasia invol...	ORPHA:40366
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Anteverted nares, Postaxial polydactyly, Depressed nasal bridge, Abnor...	ORPHA:404440
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis...	OMIM:253220
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Polydactyly, Dandy-Walker malformation	OMIM:614465
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ...	ORPHA:3098
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Mu...	ORPHA:66637
Lymphatic Malformation 6	Polyhydramnios, Edema, Facial edema, Lymphedema, Periorbital edema, Atrial septal defect, Hypothy...	OMIM:616843
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal maturation, Renal cyst, Pec...	OMIM:312870
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Low ...	OMIM:614976
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Abnormal form of the vert...	ORPHA:1834
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Spinal rigidit...	ORPHA:268
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Short ne...	OMIM:244600
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl...	ORPHA:313892
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short neck, Abnormal pinna mo...	ORPHA:52055
Orofaciodigital Syndrome V	Sandal gap, Ventricular septal defect, Postaxial polydactyly, Aganglionic megacolon, Unilateral c...	OMIM:174300
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,...	OMIM:226980
Degcags Syndrome	Osteopenia, Polyhydramnios, Prominent nose, Synophrys, Bilateral renal hypoplasia, Low anterior h...	OMIM:619488
Pierpont Syndrome	Short stature, Short toe, Broad palm, Short foot, Deep palmar crease, Chiari malformation, Short ...	OMIM:602342
Ck Syndrome	Long toe, Lumbar hyperlordosis, Posteriorly rotated ears, Prominent nasal bridge, Kyphoscoliosis,...	ORPHA:251383
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Short palm, Clinodactyly of the ...	ORPHA:264200
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Neural tube defect, Abnormality of the vertebral column, Mi...	OMIM:600776
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal...	ORPHA:581
Peters Plus Syndrome	Ureteral duplication, Micromelia, Short neck, Polyhydramnios, Bicuspid pulmonary valve, Webbed ne...	ORPHA:709
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder	OMIM:620211
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Wide na...	OMIM:618067
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent...	OMIM:616852
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o...	OMIM:619636
Cantú Syndrome	Short neck, Cardiomegaly, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, B...	ORPHA:1517
Tetrasomy 9P	Joint dislocation, Myositis, Glue ear, Short neck, Biliary atresia, Clinodactyly of the 5th finge...	ORPHA:3310
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend...	ORPHA:62
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Short palm, Conductive hearing impairment, Clinodact...	ORPHA:1001
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Hamamy Syndrome	Osteopenia, Atrial septal defect, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of...	OMIM:611174
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthro...	ORPHA:2848
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Atrial septal defect, Microphthalmia	ORPHA:261272
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Premature birth, Abnormality of the pancreas, Jaundice, Abnormal p...	ORPHA:69665
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Patent ductus arteriosus, ...	OMIM:619869
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Premature birth, Micromelia, Polyhydramnios, Cry...	ORPHA:2189
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Bulbous nose, Flexion contracture...	OMIM:616549
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Oligohydramnios	OMIM:615397
Sponastrime Dysplasia	Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str...	ORPHA:93357
Recombinant 8 Syndrome	Abnormality of the neck, Abnormal sternum morphology, Atrial septal defect, Clinodactyly of the 5...	ORPHA:96167
Familial Multiple Nevi Flammei	Edema, Venous insufficiency, Intracranial hemorrhage, Abnormality of the upper limb, Arteriovenou...	ORPHA:624
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Anteverted nares, Thoracolumbar scoliosis, Prominent nasal bridge, Hyperlordosis, K...	OMIM:618443
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Flexion contracture, Microcornea, Premature graying of hair, L...	ORPHA:90324
Aicardi Syndrome	Proximal placement of thumb, Chorioretinal lacunae, Hemivertebrae, Hepatoblastoma, Dilated third ...	OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro...	OMIM:208500
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Accelerated ...	ORPHA:116
Myasthenic Syndrome, Congenital, 14	Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Conductive hearing impairment, ...	ORPHA:444077
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Bilateral single transverse palmar ...	ORPHA:1770
Renpenning Syndrome	Decreased testicular size, Skeletal muscle atrophy, Alopecia, Cataract, Diabetes mellitus, Hyposp...	ORPHA:3242
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Low-set ears, Chronic otitis ...	ORPHA:276422
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosi...	OMIM:607095
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Symphalangism affecting the phal...	ORPHA:2990
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Aqueduc...	OMIM:154400
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of...	ORPHA:1606
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
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior...	ORPHA:3456
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Atrial septal defect, Prominent metopic ridge, Arachnodactyly, Bicuspid aortic valv...	OMIM:619721
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Osteoarthritis, Short metatarsal, Protruding ear, Pectus carinatum, Cone-shaped epiph...	OMIM:190350
Bresek Syndrome	Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Growth delay, Neonatal death, ...	ORPHA:85284
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Overriding aorta, Prominent nasal bridge, Abnormal aortic arch...	ORPHA:1110
Craniodiaphyseal Dysplasia	Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Abnormal rib morphology, Conductive hea...	ORPHA:1513
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Micro...	ORPHA:268261
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Three M Syndrome 2	Prominent nasal tip, Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Anteverte...	OMIM:612921
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Short stature, Intrauterine growth retardation	ORPHA:195
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho...	ORPHA:90650
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Vertebral segmentation defect, Atrial septal defect, Vesi...	OMIM:617063
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete...	ORPHA:1329
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Ectopic posterior pituitary, Hypoplasia of penis, Adrenal hypoplasia, Cryp...	ORPHA:95496
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Unilateral renal agenesis, Broad na...	ORPHA:3306
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia of the nose, Holoprosence...	ORPHA:3186
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary coll...	OMIM:620025
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Ventricular septal defect, Depressed nasal bridge, Kyphosis, Upper lim...	OMIM:169400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Redundant neck skin, Proximal femoral metaphyseal irregularity, Subretin...	ORPHA:397715
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur...	ORPHA:353
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp...	OMIM:147250
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Limited hip extensi...	OMIM:617114
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se...	ORPHA:99094
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Hypoplastic iliac win...	OMIM:235510
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Semilobar ...	OMIM:245552
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot...	ORPHA:970
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sclerocornea, Congenital diaphragmatic hernia, Abnormal form of the vert...	ORPHA:280
Familial Anetoderma	Generalized joint laxity, Abnormal tibia morphology, Lumbar hyperlordosis	ORPHA:228277
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Coarctation of aorta...	OMIM:618748
C Syndrome	Micromelia, Dislocated radial head, Hepatomegaly, Short metacarpal, Anteverted nares, Cryptorchid...	OMIM:211750
Monosomy 9Q22.3	Short neck, Palmar pits, Accelerated skeletal maturation, Cardiac fibroma, Abnormal rib morpholog...	ORPHA:77301
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum...	OMIM:208050
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Microphthalmia, Intrauterine growth...	ORPHA:48431
German Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Short neck, Lymphed...	ORPHA:2077
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger...	ORPHA:1703
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Bone pain, Low anterior hairline, Pectus carinatum, Coarse hai...	ORPHA:955
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m...	ORPHA:1335
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Single transverse palmar crease, Increased vertebral height, Hypothyroidism, Hashimoto thyroiditi...	OMIM:613385
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital...	ORPHA:887
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb ...	ORPHA:353327
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal d...	ORPHA:857
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy...	OMIM:265000
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Lymphe...	OMIM:153400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p...	ORPHA:1488
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Choanal atresia, Sh...	OMIM:300472
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Short neck, Joint...	OMIM:230500
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Condu...	OMIM:182212
Achondroplasia	Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi...	OMIM:100800
8P11.2 Deletion Syndrome	Sacral dimple, Hypoplasia of penis, Depressed nasal bridge, Retinal dystrophy, Hypogonadotropic h...	ORPHA:251066
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hemivertebrae, Protruding ear, Atrial septal defect, Absent gallbladder, Lumbar hyperlordosis, Ar...	ORPHA:500150
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Leopard Syndrome 3	Curly hair, Depressed nasal bridge, Posteriorly rotated ears, Short neck, Sensorineural hearing i...	OMIM:613707
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos...	OMIM:600775
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right...	OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Coloboma, Congenital contracture, Retinal dysplasia, Megalocornea, Retin...	OMIM:236670
Pierpont Syndrome	Short toe, Deep palmar crease, Chiari malformation, Short finger, Prominent fingertip pads, Micro...	ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Sensorineural hearing impairment, Flexion contracture, Hydrocep...	OMIM:615249
Atelosteogenesis, Type I	Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon...	OMIM:108720
Joubert Syndrome 32	Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Molar too...	OMIM:617757
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abn...	ORPHA:2461
Noonan Syndrome 4	Ureteral duplication, Polyhydramnios, Short neck, Abnormal sternum morphology, Thickened helices,...	OMIM:610733
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Conductiv...	OMIM:300373
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ...	OMIM:607131
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone p...	ORPHA:666
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e...	ORPHA:1908
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Lon...	OMIM:619995
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Alopecia, Sparse ey...	OMIM:614008
Tick-Borne Encephalitis	Back pain, Elevated hepatic transaminase, Skeletal muscle atrophy, Stiff neck, Facial palsy, Hear...	ORPHA:297
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Sparse eyelashes, Sparse ey...	ORPHA:66625
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Short neck, Elbow dis...	OMIM:264180
Smith-Magenis Syndrome	Synophrys, Abnormal form of the vertebral bodies, Microcornea, Conductive hearing impairment, Cli...	ORPHA:819
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Prominent nose, Atrial septal defect, Low-set, posteriorl...	ORPHA:480880
Primary Pulmonary Hypoplasia	Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect...	ORPHA:2257
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu ...	ORPHA:1381
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Abnorma...	ORPHA:628
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyl...	OMIM:603671
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Oligohydramnios, Retrocerebellar cyst, Absent dis...	OMIM:614219
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer...	OMIM:605376
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Cataract, Anteverted nares, ...	ORPHA:2969
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal mu...	OMIM:617760
Pagod Syndrome	Encephalocele, Omphalocele, Multicystic kidney dysplasia, Abnormal clavicle morphology, Congenita...	ORPHA:991
Glossopharyngeal Neuralgia	Ear pain, Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abno...	ORPHA:221098
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Absent t...	ORPHA:96097
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Polyhydramnios, Clinodactyly of the 5th finger, Pelvic kidney, A...	OMIM:247200
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia, Abnormal thumb morphology	OMIM:614082
Striatonigral Degeneration, Childhood-Onset	Ankle clonus, Lumbar hyperlordosis	OMIM:617054
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Broad nasal ti...	ORPHA:370010
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th fin...	ORPHA:1439
Femoral-Facial Syndrome	Maternal diabetes, Coxa vara, Sprengel anomaly, Vertebral segmentation defect, Aplasia/Hypoplasia...	ORPHA:1988
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Alagille Syndrome 2	Posterior embryotoxon, Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Cholestasis...	OMIM:610205
Ververi-Brady Syndrome	Wide nose, Prominent nose, Broad nasal tip, Bulbous nose, Cupped ear, Delayed skeletal maturation...	OMIM:617982
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia	ORPHA:848
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Abn...	ORPHA:2831
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Protruding ear, Micropenis, Pelvic kidney, Abnormality of the cervica...	ORPHA:464311
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Hearing impairment, Abnormal...	ORPHA:1724
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Spinal rigidity, Hyperlordosis, Splenome...	OMIM:613327
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Abnormality of the upp...	ORPHA:2547
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria, Edema, Myo...	ORPHA:2331
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valg...	ORPHA:254519
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Preaxial hand ...	OMIM:236680
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Renal cyst, Conductive hearing impairment, Iris coloboma, Disl...	OMIM:102500
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M...	OMIM:209900
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell aden...	ORPHA:97289
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair...	OMIM:300232
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Coarse hair, Narrow...	ORPHA:198
Nanophthalmos	Microphthalmia	ORPHA:35612
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis, Depressed nasal bridge, Broad hallux, Accelerated skeletal maturation, Shor...	OMIM:165800
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Aminoaciduria, Hypoplasia of the thymus, Intrahepatic biliary dy...	OMIM:214110
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Rocker bottom foot, Coxa valga, Flexion contracture, Elbow flexion contractur...	OMIM:214150
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Short neck, K...	OMIM:114300
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Overlapping toe, Short stature, Cerebellar hypoplasia, Microphthalmia	OMIM:600118
Trisomy 4P	Preaxial hand polydactyly, Radial club hand, Short stature, Camptodactyly of finger	ORPHA:1738
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Ellis Van Creveld Syndrome	Micromelia, Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Synost...	ORPHA:289
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Mac...	OMIM:608836
Wolfram Syndrome 1	Neurogenic bladder, Cataract, Diabetes mellitus, Diabetes insipidus, Hydroureter, Sensorineural h...	OMIM:222300
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem...	OMIM:229850
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Choanal atresia, Hearing impairment, Pectus excavatum, Flexion contr...	ORPHA:98889
Weiss-Kruszka Syndrome	Prominent metopic ridge, Bicuspid aortic valve, Single transverse palmar crease, Proximal placeme...	OMIM:618619
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Au-Kline Syndrome	Vertebral segmentation defect, Clinodactyly of the 5th finger, Vesicoureteral reflux, Prominent m...	OMIM:616580
Jeune Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Toe syndactyly, Abnormal clavicle morph...	ORPHA:474
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Atrial septal defect, Cl...	OMIM:607872
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Congenital diaphragmati...	ORPHA:1780
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho...	OMIM:250250
Loeys-Dietz Syndrome 4	Joint laxity, Torticollis, Flat cornea, Arachnodactyly, Protrusio acetabuli, Bicuspid aortic valv...	OMIM:614816
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Kne...	OMIM:619656
Three M Syndrome 3	Prominent nasal tip, Anteverted nares, Hyperlordosis, Short neck, Increased vertebral height, Sho...	OMIM:614205
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, M...	ORPHA:280200
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Increased axial length of the globe,...	ORPHA:558
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Prominent nasal bridge, Short neck,...	ORPHA:3409
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands	ORPHA:85287
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee...	OMIM:601559
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Sensorineural hearing impairm...	OMIM:615636
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Short neck, Edema, Hemivertebrae, Sparse hair, Rhizomelia, Sparse eyebrow, Abnorm...	OMIM:302960
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr...	OMIM:619142
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Aplasia/Hypoplasia involving the nose, Septo-optic dyspl...	ORPHA:3301
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Co...	ORPHA:261197
3Mc Syndrome	Abnormal pinna morphology, Diastasis recti, Supernumerary nipple, Hyperlordosis, Abnormal nasal m...	ORPHA:293843
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Short neck, Proximal placement of thumb, Congenital ...	OMIM:122470
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Joint laxity, Recurrent urinary tract infections, Toe syndactyly, Lumbar hyperlordosis...	OMIM:619234
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Spastic/hypera...	ORPHA:100991
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Conductive hearing impairment, Clinodactyly of...	ORPHA:3082
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, A...	OMIM:192350
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Choanal atresia, Facial palsy, Absent eyelashes, Preaxial hand polydact...	ORPHA:2316
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Anophthalmia, Sclerocornea, Hypospadias, Precocious puberty, 2-3 toe syndac...	OMIM:615877
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micromelia, Postaxial...	OMIM:617895
Leopard Syndrome 1	Limited elbow movement, Short neck, Depressed nasal ridge, Protruding ear, Pectus carinatum, Apla...	OMIM:151100
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Abnormality of the kidney, Unilateral ...	OMIM:118100
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormal retinal morphology, Lymphedema, Venous insufficiency, Abnor...	ORPHA:33276
Parkes Weber Syndrome	Back pain, Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Hypertrop...	ORPHA:90307
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Abnormality of the...	ORPHA:2916
Baraitser-Winter Syndrome 2	Abnormal pinna morphology, Highly arched eyebrow, Short neck, Coloboma, Webbed neck, Microphthalm...	OMIM:614583
Melnick-Needles Syndrome	Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-s...	ORPHA:2484
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Papilledema, Corneal...	ORPHA:2072
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Asplenia, Patchy reduction of bone miner...	ORPHA:221120
Mulchandani-Bhoj-Conlin Syndrome	Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinoda...	OMIM:617352
Jacobsen Syndrome	Short neck, Flexion contracture, Microcornea, Holoprosencephaly, Chorioretinal coloboma, Atrial s...	OMIM:147791
Joubert Syndrome 7	Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu...	OMIM:611560
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K...	OMIM:615777
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Kbg Syndrome	Single transverse palmar crease, Short neck, Epispadias, Synophrys, Low anterior hairline, Protru...	OMIM:148050
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Abnormal pinna morphol...	ORPHA:1297
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl...	ORPHA:210122
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Delayed skeletal matu...	ORPHA:2475
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Redundant neck skin, Single transverse palmar crease, Short neck, Renal cyst, Choanal stenosis, C...	OMIM:236500
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Camptodactyly of finger, Missing ribs, Meningocele, Abnormal tricuspi...	ORPHA:1759
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Abnormal eyelash ...	ORPHA:2399
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Ta...	OMIM:301066
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Depressed nasal ridge, G...	OMIM:600462
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, Rod...	OMIM:615982
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Nar...	OMIM:618188
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of...	ORPHA:77258
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
20P13 Microdeletion Syndrome	Finger syndactyly, Posteriorly rotated ears, Prominent nasal bridge, Abnormal pinna morphology, H...	ORPHA:313781
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint ...	ORPHA:583
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Aplasia/hypoplasia involving ...	ORPHA:75508
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Holoprosencephaly 14	Ventricular septal defect, Anteverted nares, Cyclopia, Proboscis, Alobar holoprosencephaly, Aqued...	OMIM:619895
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T...	ORPHA:2473
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Atrial septal defect, Conductive hearing impairment, Clin...	OMIM:257920
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li...	ORPHA:156728
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper...	OMIM:615222
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct...	ORPHA:2519
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Joint hypermobility, Narrow nasal ridge, Underdeveloped nasal alae, Long finge...	OMIM:618343
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, Hypoplasia of the cochlea, Optic disc...	OMIM:613398
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the...	OMIM:215150
Arterial Tortuosity Syndrome	Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Hiatus hernia, Pulmonary ...	ORPHA:3342
Okamoto Syndrome	Facial hypertrichosis, Redundant neck skin, Urinary incontinence, Abnormally large globe, Primum ...	ORPHA:2729
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Hemivertebrae, Sprengel anoma...	OMIM:134780
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Ede...	ORPHA:2315
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol...	ORPHA:91387
Aicardi Syndrome	Protruding ear, Chorioretinal coloboma, Hepatoblastoma, Hiatus hernia, Precocious puberty, Optic ...	ORPHA:50
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Coloboma, Portal fibro...	OMIM:619111
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Sparse eyebrow, Widow's peak, Cupped ear, Wide nasal bridge, Coloboma, Lo...	OMIM:167730
Fetal Encasement Syndrome	Omphalocele, Decreased fetal movement, Congenital diaphragmatic hernia, Upper limb undergrowth, H...	OMIM:613630
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Diastasis recti, Postnatal growth retardation, Upper limb asymmetry, Polydactyly, ...	ORPHA:231140
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Retinal detachment, Inguinal hernia, Hearing impairment, Hyperlordosis, Short neck, Short thorax,...	ORPHA:3218
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomeg...	ORPHA:1046
Retinitis Pigmentosa 89	Bicuspid aortic valve, Retinal thinning, Postaxial polydactyly, Micronodular cirrhosis, Hepatospl...	OMIM:618955
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,...	ORPHA:94068
Mend Syndrome	Redundant neck skin, Broad hallux, Cryptorchidism, 2-3 toe syndactyly, Macular hypoplasia, Low-se...	OMIM:300960
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,...	OMIM:300707
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia	OMIM:618805
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Facial hypotonia, Broad nasal tip,...	OMIM:617557
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosi...	ORPHA:476126
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Atrial septal defect, Hepatoblastoma, Thick n...	ORPHA:1465
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Bulbous nose, Coloboma, Talipes equinovarus, Macrotia	OMIM:617695
Subaortic Stenosis-Short Stature Syndrome	Short stature, Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis...	ORPHA:3191
Chime Syndrome	Depressed nasal ridge, Short palm, Sparse hair, Abnormality of the kidney, Aplastic clavicle, Apl...	ORPHA:3474
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Anteverted nares, Depressed nasal bridge, ...	OMIM:615398
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Inguinal hernia, Broad hallux, Anteverted nares, Postaxial polydactyly, ...	ORPHA:457284
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Elevated circulating thyroid-stimulati...	OMIM:601812
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Postaxial polyda...	OMIM:219730
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Bulbous nose, Sensorineural hearing impair...	OMIM:615219
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short finger, Clin...	OMIM:619467
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Hypothyroid...	ORPHA:3258
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairm...	ORPHA:2790
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Edema, Short neck, Short metatarsal, Renal cyst, M...	OMIM:266920
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Cryptorchidism, Nephrocalcinosis, B...	OMIM:615633
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Mitral valve prolapse, Pectus carinat...	OMIM:616166
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn...	ORPHA:3253
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Protruding ear, Atrial septal defect, Subcutaneous neurofibroma, Paten...	ORPHA:363700
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Anteverted nares, Sensorineural hearing impairment, Hip ...	OMIM:615155
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Menkes Disease	Venous insufficiency, Intracranial hemorrhage, Narrow chest, Sparse hair, Osteoporosis, Joint hyp...	ORPHA:565
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal c...	ORPHA:488618
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Postnatal growth retardation, Ulnar bowing,...	OMIM:619135
Nanophthalmos 4	Microphthalmia	OMIM:615972
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia	OMIM:617562
Anencephaly 2	Anophthalmia, Anencephaly, Bifid nose	OMIM:619452
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen...	OMIM:601152
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu...	ORPHA:229
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Hype...	OMIM:615065
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism...	OMIM:615849
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Depressed nasal bridge, Fla...	OMIM:146000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V...	OMIM:126320
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Clinodactyly, Pulmonary artery atresia, Vesicoureteral reflu...	OMIM:616894
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Abnormal cerebral v...	ORPHA:60015
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Microphthalmia, Intrauterine growth retardation, Ol...	ORPHA:228390
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Narrow chest, Thoracic dysplasia, Spar...	OMIM:614091
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Short neck, Proxim...	OMIM:261540
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ...	ORPHA:1272
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Baraitser-Winter Cerebrofrontofacial Syndrome	Short neck, Prominent nose, Long nose, Microcornea, Heterochromia iridis, Iris coloboma, Prominen...	ORPHA:2995
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urin...	OMIM:252900
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Camptodactyly of finger, Growth delay, Microphthalmia, Intrauterine growth re...	OMIM:610756
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Increased bon...	ORPHA:1798
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ...	OMIM:609325
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Sclerocornea, Adrenal hypoplasia, Uplifted earlobe...	OMIM:607932
Timothy Syndrome	Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypothyroidism, Patent ductus ar...	OMIM:601005
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu...	OMIM:611588
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology, Renal insufficiency	ORPHA:3222
H Syndrome	Corneal arcus, Micropenis, Alopecia, Abnormality of the kidney, Recurrent pharyngitis, Delayed sk...	ORPHA:168569
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Polyhydramnios, Flexion contracture, Knee flexion contracture, Foot d...	ORPHA:2020
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Dilated cardiomyopathy...	OMIM:310200
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor...	ORPHA:3405
Slc35A2-Cdg	Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Limb joint contracture, Camptoda...	ORPHA:356961
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Decreased response to growth hormon...	OMIM:610829
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, M...	OMIM:277380
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Maternal diabet...	ORPHA:3027
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Zimmermann-Laband Syndrome 1	Hyperextensibility of the finger joints, Synophrys, Low anterior hairline, Spina bifida occulta, ...	OMIM:135500
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal heart morphology, Vertebral segmenta...	ORPHA:531151
Alport Syndrome	Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru...	ORPHA:63
Autosomal Recessive Malignant Osteopetrosis	Bone pain, Reduced bone mineral density, Narrow chest, Otitis media, Hepatomegaly, Pulmonary arte...	ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Increased variability in musc...	OMIM:613150
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati...	ORPHA:77299
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Cataract, Ventricular septal defect, Pulmonary artery sling, Coronary sinus en...	OMIM:619268
Igg4-Related Aortitis	Low back pain, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta...	ORPHA:449400
Monosomy 18P	Short stature, Lymphedema, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly	ORPHA:1598
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous malfor...	OMIM:150230
Foix-Alajouanine Syndrome	Back pain, Low back pain, Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence,...	ORPHA:79093
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:615986
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypoplastic left he...	OMIM:619562
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Anophthalmia, Urethral atresia, Vertebral segmentation defec...	ORPHA:2052
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma, Deep palmar crease	OMIM:600251
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy...	OMIM:608091
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, Juvenile rhe...	OMIM:607944
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Prominent corneal nerve fibers, Elevated circulating parathyroid hormo...	ORPHA:653
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti...	OMIM:119800
Otodental Dysplasia	Delayed eruption of teeth, Coloboma, Sensorineural hearing impairment, Anteverted nares	OMIM:166750
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Recurrent fractures,...	OMIM:166200
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Zttk Syndrome	Flexion contracture, Hemivertebrae, Protruding ear, Atrial septal defect, Absent gallbladder, Dep...	OMIM:617140
3Mc Syndrome 3	Short stature, Diastasis recti, Preaxial polydactyly, Growth delay, Radioulnar synostosis, Clinod...	OMIM:248340
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,...	ORPHA:568051
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature, Cerebellar hypoplasia	OMIM:251270
Aredyld Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Abnormal nasal morphology, Splenomegaly, Abnorma...	ORPHA:1133
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Upper limb asymmetry, Ovarian neoplasm, Reduced bone m...	ORPHA:137608
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas...	ORPHA:2470
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly	OMIM:614845
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Pectus excavatum, ...	OMIM:104350
Distal 22Q11.2 Microduplication Syndrome	Depressed nasal ridge, Protruding ear, Camptodactyly of toe, Branchial fistula, Tapered finger, C...	ORPHA:261337
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars...	OMIM:617102
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achilles tendon contracture, S...	OMIM:619719
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Asc...	OMIM:602361
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect, Retinitis, Posteri...	OMIM:615948
Ring Chromosome 10 Syndrome	Sandal gap, Microphthalmia, Tapered finger, Intrauterine growth retardation	ORPHA:1438
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Short stature, Single transverse palmar crease, Overlapping toe, Tapered finger, S...	OMIM:619148
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Urinary incontinence, Kyphosis, Breech ...	OMIM:616482
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Webbed neck, Abnormality of the outer ear, Hearing i...	OMIM:314600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Postnatal growth retardation, Heart murmur, Atrial septal defect...	ORPHA:2728
Norrie Disease	Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ...	ORPHA:649
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Posteriorly rotated ears, Congenital sensorineural hear...	OMIM:617306
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Knee flexion contracture, Camptodactyly, Microphthalmia, Cubitus valgus	OMIM:619694
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Postnatal growth retardation, Abnormal h...	ORPHA:494344
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha...	OMIM:620285
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi...	OMIM:271640
Mohr Syndrome	Syndactyly, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, ...	OMIM:252100
Congenital Fibrinogen Deficiency	Tachycardia, Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Internal hemorrha...	ORPHA:335
Sotos Syndrome	Ureteral duplication, Accelerated skeletal maturation, No permanent dentition, Flexion contractur...	ORPHA:821
Congenital Pseudoarthrosis Of The Clavicle	Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o...	ORPHA:66630
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Short thumb, Patent ductus ar...	OMIM:612561
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Fetal ascites, Ascending ao...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti...	OMIM:617600
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal...	OMIM:114290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Narrow chest, Atria...	ORPHA:280633
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De...	ORPHA:87
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat...	ORPHA:137667
Oculofaciocardiodental Syndrome	Cubitus valgus, Short thumb, 2-3 toe syndactyly, Broad palm, Mitral valve prolapse, Genu valgum, ...	ORPHA:2712
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Posteriorly rotated ears, Sh...	OMIM:612813
Joubert Syndrome 20	Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Protruding ear, Hypothyroidism, Patent foramen ovale, Simple ea...	OMIM:619325
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Achondrogenesis Type 1B	Thickened nuchal skin fold, Anteverted nares, Micromelia, Short neck, Polyhydramnios, Abnormal en...	ORPHA:93298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi...	OMIM:613818
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Anteverted nares, Cryptorchidism, M...	OMIM:227330
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cataract, Anophthalmia, Failure of eruption of permanent teeth, Inguinal her...	ORPHA:2250
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Polydactyly, Short finger	OMIM:182230
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Bardet-Biedl Syndrome 8	Hypospadias, Postaxial polydactyly, Situs inversus totalis, Hypogonadism, Rod-cone dystrophy, Ren...	OMIM:615985
Braddock Syndrome	Congenital muscular torticollis, Short stature, Preaxial hand polydactyly, Pulmonary arterial hyp...	ORPHA:52047
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Triphalangeal thumb, E...	ORPHA:2549
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Short neck, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clinoda...	ORPHA:2001
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Craniosynostosis, Abnormality of the urethra, Abnormality of the u...	ORPHA:2145
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Promi...	OMIM:135900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Abnormality of the lymph...	ORPHA:276280
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Lamb-Shaffer Syndrome	Broad nasal tip, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoli...	ORPHA:530983
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Hyperlordosis, Abnormality of the humerus, Nephrogenic d...	ORPHA:3130
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Growth delay, Chiari type I malformation, Microphthalmia, Radial dys...	OMIM:617244
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Polyhydramnios, Large fleshy ears, Atrial ...	OMIM:614080
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta...	OMIM:610017
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Posteriorly rotated ears, ...	ORPHA:2211
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Polyhydramnios, Proximal placement of thumb, Knee flexion contra...	ORPHA:3103
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,...	OMIM:171480
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal d...	OMIM:107480
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Short stature, Polydactyly	OMIM:300484
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/head morphology, ...	ORPHA:2788
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Spina bifida, Precocious puberty, Cryptorchidism, Lymphedema, Renal transitiona...	ORPHA:2874
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Abnormal thorax morp...	ORPHA:2184
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine...	OMIM:252930
Cockayne Syndrome A	Dry hair, Abnormal peripheral myelination, Prominent nose, Ivory epiphyses of the phalanges of th...	OMIM:216400
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Si...	OMIM:602471
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Palmoplantar keratoderma, Pulmonic stenosis, Sparse...	OMIM:615508
Milroy Disease	Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydrocele testis, V...	ORPHA:79452
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Flexion contrac...	OMIM:154700
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Cataract, Diabetes mellitus, Proteinuria, Pre...	ORPHA:33001
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Renal cyst, Atrial septal defect, Con...	OMIM:117650
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Cardiomy...	ORPHA:258
Giant Axonal Neuropathy	Facial palsy, Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes...	ORPHA:643
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios	OMIM:619053
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Anteverted nares, Postaxial polydactyly, Facial hypotonia,...	OMIM:616362
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea...	OMIM:619476
Ciliary Dyskinesia, Primary, 25	Dextrocardia, Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Chronic rhinit...	OMIM:615482
Kleefstra Syndrome 1	Natal tooth, Anteverted nares, Single transverse palmar crease, Hearing impairment, Persistence o...	OMIM:610253
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Mowat-Wilson Syndrome	Uplifted earlobe, Pectus carinatum, Microcornea, Chorioretinal coloboma, Atrial septal defect, Ir...	OMIM:235730
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy	OMIM:613723
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Sclerocornea, Catar...	OMIM:309801
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Alopecia totalis, Pericardi...	OMIM:618775
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Atrial septal defect, Clinodactyly of the 5th finger, Advanced eruption of teeth,...	ORPHA:1519
Diamond-Blackfan Anemia 21	Aortic regurgitation, Hallux valgus, Short stature, Sandal gap, Tapered finger, Secundum atrial s...	OMIM:620072
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Flexion contracture, Microphthalmia, M...	OMIM:614833
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Webbed ne...	OMIM:612918
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Cohen Syndrome	Finger syndactyly, Ventricular septal defect, Short stature, Arachnodactyly, Tapered finger, Cubi...	ORPHA:193
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphosis, Elevated urinary ...	OMIM:162300
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia...	OMIM:620076
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Ag...	ORPHA:59315
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Self-injurious b...	ORPHA:449291
Mosaic Trisomy 8	Short neck, Protruding ear, Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th ...	ORPHA:96061
Campomelia, Cumming Type	Bowing of the long bones, Polycystic liver disease, Lymphedema, Pancreatic cysts, Polysplenia, Po...	OMIM:211890
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Bilateral micropht...	ORPHA:369891
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, Lumbar hemivertebrae, Abnormal b...	ORPHA:2463
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas...	OMIM:612913
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Sandal gap, 3-4 finger...	OMIM:612530
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of th...	ORPHA:84064
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhiz...	OMIM:151210
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic fibrosis, Narrow chest, Thoraci...	OMIM:263520
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Cerebellar vermis atrophy	ORPHA:163681
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Choanal atresia, Posteriorly rotated ears, Polyhydramnios, Premature b...	ORPHA:2759
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Bulbous nose, Hydrocephalus...	ORPHA:2180
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Diabetes mellitus, Lower limb muscle weakness, Myo...	OMIM:615980
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptor...	OMIM:619471
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial en...	OMIM:616028
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Wide nasal bridge, Symphalangism aff...	ORPHA:710
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r...	ORPHA:2215
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Kyphosis, Rod-cone dystrophy, A...	ORPHA:88628
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Choanal stenosis, Conductive hearing impairment, Spi...	OMIM:218600
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Venous insufficiency, Osteoarthritis, Abnormality of the wrist, Keratoconus, V...	ORPHA:285
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Abnormal finger morphology, Protruding ear...	ORPHA:404448
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, D...	OMIM:180860
Fanconi Anemia, Complementation Group F	Short stature, Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger sy...	OMIM:603467
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia ...	OMIM:200980
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Low posterior hairlin...	ORPHA:1323
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Facial hypotonia, Dispr...	ORPHA:85194
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis	OMIM:611884
Clapo Syndrome	Macrodactyly, Lymphedema, Pectus excavatum, Hemihypertrophy of upper limb, Varicose veins, Narrow...	ORPHA:168984
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Legius Syndrome	Cataract, Neurofibroma, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dysplasia, Lisch nodul...	ORPHA:137605
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Alpha-Mannosidosis, Infantile Form	Osteopenia, Communicating hydrocephalus, Thickened ribs, Short neck, Oligosacchariduria, Pectus c...	ORPHA:309282
Thoracoabdominal Syndrome	Omphalocele, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arterios...	OMIM:313850
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Cataract, Sparse eyelashes, Camptodactyly of finger, Underdeve...	ORPHA:306542
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short...	ORPHA:2319
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Joubert Syndrome 23	Coloboma, Sensorineural hearing impairment, Polydactyly	OMIM:616490
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio...	OMIM:616037
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Aspergillosis	Osteomyelitis, Abnormality of the kidney, Keratitis, Vitritis, Hepatitis, Abnormal rib morphology...	ORPHA:1163
Livedoid Vasculopathy	Enlargement of the ankles, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the p...	ORPHA:542643
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology	ORPHA:743
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Joubert Syndrome 27	Molar tooth sign on MRI, Polydactyly	OMIM:617120
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy, Palpebral edema, Hyperlordosis, Abnormal retinal vascular morphology, Ab...	ORPHA:269
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, Narrow chest, Broad ribs, Joi...	OMIM:304150
Bilateral Polymicrogyria	Sensorineural hearing impairment, Abnormality of masticatory muscle, Central hypothyroidism, Faci...	ORPHA:268940
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, Hemiatrophy of u...	ORPHA:163649
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiph...	ORPHA:773
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Ciliary Dyskinesia, Primary, 38	Dextrocardia, Situs inversus totalis, Rhinitis, Conductive hearing impairment, Chronic otitis media	OMIM:618063
Ehlers-Danlos Syndrome, Vascular Type	Premature delivery because of cervical insufficiency or membrane fragility, Hypermobility of dist...	OMIM:130050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Prominent nose, Low anterior hairline, Thickened helices, Prominent fingertip pads, T...	OMIM:619950
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu...	ORPHA:2847
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi...	OMIM:151050
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set, posteriorly rotated ears, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosis, Rhizo...	ORPHA:171866
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Intellectual Developmental Disorder, Autosomal Dominant 29	Wide nose, Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Cryptorchidism, Synophr...	OMIM:616078
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media, Dextrocardia, Situs inversus totalis	OMIM:618948
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad n...	OMIM:618846
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Abnormal pupil morphology, Osteoarthritis, Protrud...	ORPHA:286
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual m...	OMIM:194050
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo...	OMIM:600920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the ey...	ORPHA:522077
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla...	ORPHA:2842
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu...	OMIM:612422
Senior-Loken Syndrome 9	Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Ch...	OMIM:616629
Arterial Calcification, Generalized, Of Infancy, 2	Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Arterial...	OMIM:614473
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abdominal aortic aneurysm, Joint laxity, A...	ORPHA:284984
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Short stature, Oligohydramnios, Hypoplasia of the iris, Hypoplasia of the bra...	OMIM:251300
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s...	OMIM:614099
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Hypospadias, Pectus...	OMIM:606851
Omodysplasia 1	Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fibul...	OMIM:258315
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact...	OMIM:617527
Iniencephaly	Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hype...	ORPHA:63259
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Pectus excavatum, Cryptorchidism, Patent ductus arterios...	OMIM:100100
Familial Multiple Lipomatosis	Bowing of the long bones, Accelerated skeletal maturation, Coloboma, Chorioretinitis, Abnormal tr...	ORPHA:199276
Temtamy Syndrome	Aortic regurgitation, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachy...	OMIM:218340
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Congenital diaphragmati...	ORPHA:1647
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplas...	ORPHA:1318
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract...	OMIM:618183
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Yunis-Varon Syndrome	Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Anterior concav...	OMIM:216340
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m...	ORPHA:99868
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis	OMIM:614679
Fetal Alcohol Syndrome	Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, Intrauterin...	ORPHA:1915
Cleidocranial Dysplasia	Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Chronic otiti...	ORPHA:1452
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose...	OMIM:125310
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Short stature, Postnatal growth retardation, Duplication of phalanx of hal...	OMIM:243310
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Peripheral edema, Interstitial cardiac fi...	ORPHA:75249
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Edema, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphth...	ORPHA:2505
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Scolios...	ORPHA:555877
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Mend Syndrome	Overlapping fingers, Short stature, Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2...	ORPHA:401973
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst, Myopathy	OMIM:109130
Alexander Disease	Osteopenia, Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious pube...	ORPHA:58
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, Inguinal hernia, Hearing impairm...	ORPHA:2588
Meester-Loeys Syndrome	Joint dislocation, Aortic dissection, Arachnodactyly, Hypertrichosis, Cervical spine instability,...	OMIM:300989
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ...	OMIM:271520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Muscular dystr...	OMIM:614643
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia...	ORPHA:1436
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short f...	OMIM:258860
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Abnormal heart morphology, Pol...	ORPHA:314655
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Intrauterine growth...	OMIM:617914
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulon...	OMIM:619525
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen...	OMIM:614557
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangea...	ORPHA:2232
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General...	OMIM:264090
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Breech presentat...	OMIM:617821
Pure Mitochondrial Myopathy	Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab...	ORPHA:254854
Congenital Tracheomalacia	Ventricular septal defect, Premature birth, Tracheomalacia, Cardiomegaly, Patent ductus arteriosu...	ORPHA:95430
Craniosynostosis And Dental Anomalies	Hallux valgus, Papilledema, Wide nose, Delayed eruption of teeth, Broad hallux, Depressed nasal b...	OMIM:614188
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Subvalvu...	OMIM:613001
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Optic neuropathy, Hearing imp...	OMIM:619727
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph...	ORPHA:263508
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall...	ORPHA:2710
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Nuchal rigidity, Abnormality of the liv...	ORPHA:228123
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology, Edema	ORPHA:97330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Hydrocephalus, Increased variability in muscle fiber diameter, Buph...	OMIM:616538
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping	OMIM:617101
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, ...	ORPHA:1486
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio...	ORPHA:891
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubuloint...	ORPHA:449395
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Ectopic accessory finger-like appendage, Postaxial hand polydactyly, Posta...	ORPHA:2919
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous ret...	ORPHA:555874
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short n...	ORPHA:2021
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit...	ORPHA:100924
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Dehydration, Protruding ...	ORPHA:534
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Capitate-hamate fusion, Postaxial hand polyd...	OMIM:225500
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Anteverted nares, Aganglionic megacolon, Hearing impairment, Polyhydra...	ORPHA:3339
Laurence-Moon Syndrome	Polydactyly, Short stature, Abnormality of the hand	OMIM:245800
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Dextrocardia, Situs inversus totalis, Otitis media, Hearing impairment	OMIM:606763
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Knee flexion contracture, Hypoplasia of the iris, Prominent crus of...	OMIM:619194
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Short stature, Single transve...	OMIM:272950
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Short stature, Abnormal heart morphology, Microphthalmia, Inferior cerebellar ve...	OMIM:618571
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Patent ductus arterios...	ORPHA:30
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Dextrocardia, Situs inversus totalis, Rhinitis, Recurrent sinusitis, Recurrent o...	OMIM:615444
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin...	OMIM:309620
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Abnormal rib morphology, Dec...	ORPHA:2097
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Polyhydramnios, Postaxial hand polydactyly, Hydrocephalus, Abnormal cardiac septum...	ORPHA:2166
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Synophrys, Cutaneous finger syndactyly, Megalocornea, Penoscrotal hypos...	OMIM:211380
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Anteverted nares, Prominent ...	ORPHA:2604
Myotonia Permanens	Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Limitation of joint mobility, Hyperl...	ORPHA:99735
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased muscle mass, Short stature, Flexion contracture, Severe postnatal g...	OMIM:615663
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Short stature, Proximal placement of thumb	OMIM:617883
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Meige Disease	Predominantly lower limb lymphedema, Lymphedema, Absence of lymph node germinal center, Facial ed...	ORPHA:90186
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo...	OMIM:607597
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Wide nasal bridge, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fus...	OMIM:617333
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Cataract, Hypogonadotropic hypogonadism, Choanal atresia, Absent tragus, Abnorma...	OMIM:603457
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly	OMIM:600151
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Small hand, Short foot, Severe intrauterine growth retardation, Sho...	OMIM:241410
Renal Nutcracker Syndrome	Orthostatic hypotension, Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Abnormal a...	ORPHA:71273
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Preaxial hand polydactyly, Contractures of the large joints, Clinod...	ORPHA:96179
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Abnorma...	ORPHA:444072
Frontonasal Dysplasia 2	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microphthalmia, Intra...	OMIM:613451
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Br...	ORPHA:2643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the...	OMIM:253280
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Peripheral edema, Abnormality of the hepati...	ORPHA:1677
Constricting Bands, Congenital	Encephalocele, Syndactyly, Omphalocele, Abnormal rib cage morphology, Hand polydactyly, Talipes e...	OMIM:217100
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia, Hypospadias, Postaxial polydactyly	ORPHA:544254
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Total anomalous pulmonary venous return	OMIM:106700
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pu...	OMIM:100300
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Cataract, Hyperlordosis, Hip dysplasia, Limb-girdle ...	OMIM:615356
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav...	OMIM:617168
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Patellar hypoplasia, Retrocerebellar cyst, Talipes equinovarus, Preax...	ORPHA:1827
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Vert...	ORPHA:2578
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaund...	ORPHA:57777
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d...	OMIM:249700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, P...	ORPHA:438213
Kinsship Syndrome	Osteopenia, Sacral dimple, Single transverse palmar crease, Short neck, Coxa valga, Bulbous nose,...	OMIM:619297
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Short stature, Proximal placement of thumb, Preaxial hand polydactyly,...	OMIM:610536
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of...	ORPHA:251038
Micro Syndrome	Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Delayed puberty, Mic...	ORPHA:2510
Monosomy 9P	Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Synophrys, Anotia, Bila...	ORPHA:261112
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Communicating hydrocephalus, Arachnodactyly, Prominent nasal bridge, Posteriorly ro...	OMIM:617011
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Foot polydactyly	ORPHA:210548
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Pulmonary arteria...	OMIM:616449
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Preaxial hand polydactyly, Short stature	ORPHA:79113
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Short stature, Absent thumb, Absent radius, Short thumb, Flexion contr...	OMIM:227645
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Joint laxity, Communicating hydrocephalus, Lumbar hyperlordosi...	ORPHA:457359
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short neck, Abnormality of the thyroid gland, Hemivertebrae, Abnormal rib mo...	ORPHA:2234
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Polydac...	OMIM:613464
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Short stature, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly,...	OMIM:257850
Warburg Micro Syndrome 2	Overlapping toe, Postnatal growth retardation, Flexion contracture, Microphthalmia, Clinodactyly ...	OMIM:614225
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, Macrovesicular hepatic steatosis, S...	OMIM:619127
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast...	OMIM:619313
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Decreased serum testosterone concentration, Streak ovary, Abnormal perip...	ORPHA:168563
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Broad hallux, Single transverse palmar crease	OMIM:614105
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Warburg Micro Syndrome 3	Decreased muscle mass, Postnatal growth retardation, Flexion contracture, Clinodactyly of the 5th...	OMIM:614222
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo...	ORPHA:2167
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Short stature, Camptodactyly of finger, Congestive...	ORPHA:464
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Flexion contracture, Neonatal epiphyseal stippling, Hip dislocation, Upper limb as...	ORPHA:35173
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, M...	OMIM:175050
Orofaciodigital Syndrome Type 2	Finger syndactyly, Short stature, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Po...	ORPHA:2751
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join...	OMIM:612852
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Dilation of Virchow-Robin spaces, Hyperlordosis, Hypo...	ORPHA:73223
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart...	OMIM:184705
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fingers, Per...	ORPHA:99106
Fontaine Progeroid Syndrome	Atrial septal defect, Syndactyly, Tricuspid regurgitation, Bicuspid aortic valve, Short stature, ...	OMIM:612289
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Prominent nose, Long...	ORPHA:2636
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Patent foramen o...	OMIM:263650
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper...	OMIM:608670
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Cho...	ORPHA:83
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Short stature, Holoprosencepha...	ORPHA:1587
Fanconi Anemia, Complementation Group D2	Short stature, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial dupli...	OMIM:227646
Fanconi Anemia, Complementation Group E	Short stature, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmi...	OMIM:600901
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Peutz-Jeghers Syndrome	Melanonychia, Pancreatic adenocarcinoma, Nasal polyposis, Neoplasm of the nose, Abnormality of th...	ORPHA:2869
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Lead Poisoning	Anorexia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Depression, Attention defi...	ORPHA:330015
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Growth delay, Bilateral talipes equinovarus, Cerebell...	OMIM:614083
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the...	ORPHA:364577
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Fanconi Anemia, Complementation Group A	Short stature, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmi...	OMIM:227650
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, 2-5 finger syndactyly, Severe short stature, Multiple joint contractures, Opt...	ORPHA:468631
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anophthalmia, Broad nasal tip, Bifid nasal tip, Microphthalmia, Abnormality of the h...	OMIM:248450
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Abnormal pinna morphology, Symblepharon, Sternocleidomastoid amyotroph...	ORPHA:488434
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Varicose veins, Nephritis,...	OMIM:314300
3Q29 Microdeletion Syndrome	Tapered finger, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Clinodactyly of the...	ORPHA:65286
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Liposarcoma	Varicose veins, Abnormality of the kidney	ORPHA:69078
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Long ear, Aplasia...	OMIM:276820
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement	OMIM:617047
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine...	OMIM:620098
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia, Ventricular septal defect	OMIM:234050
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Oculodentodigital Dysplasia	Cubitus valgus, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5t...	OMIM:164200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Tapered finger, Small hand, Severe postnatal growth retardation, Pulmonary a...	OMIM:620005
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Recurrent otitis media, Abdominal situs inversus, Dextrocardia	OMIM:619607
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Single transverse palmar crease, Overlapping toe, Hip dislocation, Gro...	OMIM:613884
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Cholestasis, Mitral valve prolapse, Pleural effusion, ...	OMIM:620233
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Short stature, Facial palsy, Polyhydramnios, Single transverse palmar crease, Bro...	OMIM:620186
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Prominent nose, Elbow dislocation, Kyphosis, Long nose, B...	ORPHA:2769
Oculo-Palato-Cerebral Syndrome	Short stature, Small hand, Short foot, Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Premature birth, Proteinuria, Unilateral...	ORPHA:93101
Papillorenal Syndrome	Short stature, Edema, Chiari type I malformation, Hypertension, Microphthalmia	OMIM:120330
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Growth delay, Camptodactyly, Microphthalmia, Absent palmar crease	OMIM:614230
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Cuboid-shaped vertebr...	OMIM:612731
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vertigo, ...	ORPHA:97214
Radio-Renal Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia...	ORPHA:3015
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia, Abnormal hair pattern	ORPHA:2717
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Microtia, Conotruncal defect	OMIM:243440
Pierson Syndrome	Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhag...	OMIM:609049
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or a...	ORPHA:3353
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Abnormality o...	OMIM:601076
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Stiff-Person Syndrome	Diabetes mellitus, Lumbar hyperlordosis, Proximal limb muscle stiffness, Asymmetric limb muscle s...	OMIM:184850
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mob...	ORPHA:314621
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Anomalous ...	ORPHA:99104
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Microphthalmia, Cerebellar vermis atrophy, Dandy-Walker malformation	OMIM:156610
Stiff Person Spectrum Disorder	Diabetes mellitus, Lumbar hyperlordosis, Hypothyroidism, Paraspinal muscle hypertrophy	ORPHA:3198
Glomuvenous Malformation	Abnormality of the nasal cavity, Abnormal renal morphology, Gastrointestinal arteriovenous malfor...	ORPHA:83454
Atelis Syndrome 2	Single transverse palmar crease, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic st...	OMIM:620185
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Erythrocytosis, Familial, 2	Varicose veins, Stroke, Cerebral hemorrhage, Elevated circulating erythropoietin concentration	OMIM:263400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cockayne Syndrome B	Severe short stature, Cerebellar calcifications, Postnatal growth retardation, Ivory epiphyses of...	OMIM:133540
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Adducted thumb, Short stature, Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression	ORPHA:847
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Macrodactyly, Venous malformation, Lymphedema	OMIM:613089
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Upper limb muscle weakness, ...	ORPHA:206448
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinop...	OMIM:605231
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda...	ORPHA:2750
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus	OMIM:601389
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal s...	ORPHA:3035
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Hip dysplasia, Microphthal...	OMIM:300895
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Histidinemia	Hyperactivity	ORPHA:2157
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Retinitis Pigmentosa 74	Optic disc pallor, Abnormal renal morphology, Pigmentary retinopathy, Polydactyly, Posterior pola...	OMIM:616562
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dubowitz Syndrome	Syndactyly, Short stature, Single transverse palmar crease, Postnatal growth retardation, Hypopla...	OMIM:223370
Japanese Encephalitis	Skeletal muscle atrophy, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Faci...	ORPHA:79139
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ...	ORPHA:436
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Witteveen-Kolk Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Proximal placement of thumb, Intracranial hemorr...	OMIM:613406
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Unilateral microphthalmos	OMIM:615085
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial ...	ORPHA:68
Hallermann-Streiff Syndrome	Proportionate short stature, Congestive heart failure, Small hand, Short foot, Cerebellar hypopla...	ORPHA:2108
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity...	ORPHA:60030
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short stature, Short thumb, Small hand, Telangiectasia, Short foot, T...	OMIM:268400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura...	ORPHA:93317
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Maternal diabetes, Pos...	ORPHA:49
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Short stature, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal ...	OMIM:201180
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Transient ischemic attack, Depressed ...	ORPHA:2929
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Bilateral microphthalmos, Clubbing, Cardi...	ORPHA:33364
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Flexion contracture, Short stature, Telangiectasia	OMIM:601675
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Abnormal renal tubule morphology, Camptodactyly of finger, Abnormal preputium ...	ORPHA:2907
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Webbed neck, ...	OMIM:602196
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Preaxial hand polyd...	ORPHA:2753
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse...	ORPHA:1236
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis...	OMIM:187300
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo...	ORPHA:3404
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil...	OMIM:166220
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Diphallia	Ureteral duplication, Renal malrotation, Inguinal hernia, Renal duplication, Hypospadias, Distal ...	ORPHA:227
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ...	ORPHA:3109
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Single umbilical...	OMIM:182210
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Microphthalmia, Short stature	OMIM:610651
Momo Syndrome	Short stature, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital p...	ORPHA:2563
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis...	OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Holoprosencephaly 7	Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h...	OMIM:610828
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Holoprosencephaly 1	Short stature, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Sin...	OMIM:236100
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Varicose Veins	Varicose veins	OMIM:192200
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Joint stiffness, Cryptorchidism, Split hand, ...	ORPHA:1300
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Epispadias, Anotia, Clinodactyly of the 5th finger, Microtia, third degree, ...	ORPHA:2554
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Pedal edema, Right ventricular dilatation, Stroke, Abnormal mitral val...	ORPHA:99103
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Clubbing, Biliary tract abnormality, ...	OMIM:175200
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation	ORPHA:2612
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Mi...	OMIM:259770
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Neuroma, Choroidal hemangioma, Scoliosis, Venous ...	ORPHA:221061
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Double aortic arch	OMIM:230900
Kenny-Caffey Syndrome, Type 2	Severe short stature, Short stature, Microphthalmia, Thickened cortex of long bones, Abnormality ...	OMIM:127000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature...	OMIM:619539
Cockayne Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Severe short stature, Postnatal growth retardation, ...	ORPHA:191
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the ...	OMIM:616734
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Bladder Exstrophy	Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Epispadias...	ORPHA:93930
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly, Oligohydramnios	OMIM:617666
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Short stature, Retinal hemorrhage	OMIM:308300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Short finger, Microphthalmia, Cubitus valgus	OMIM:601552
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	ORPHA:93271
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Postnatal growth retardation, Wrist swelling, Hip disloca...	OMIM:309000
Choanal Atresia	Nasal congestion, Tracheomalacia, Polydactyly, Craniosynostosis	ORPHA:137914
Treacher Collins Syndrome 2	Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he...	OMIM:613717
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, ...	OMIM:157170
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iri...	OMIM:175780
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Flexio...	ORPHA:2908
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Hypoplastic pelvis, Congenital diaphragmatic hernia	OMIM:273395
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular dilatation, Osteomyelitis, Edema, Right atrial enlargement	ORPHA:70591
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Otosclerosis 10	Otosclerosis	OMIM:615589
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly, Short stature, Abnormal midbrain morphology, Delayed puberty	ORPHA:293987
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology	OMIM:154500

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 Smg9

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 Smg9.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Defects in placental syncytiotrophoblast cells are a common cause of developmental heart disease.	Nature communications (March 2023)	Smg9^{tm1c(EUCOMM)Wtsi} Smg9^{tm1a(EUCOMM)Wtsi} Smg9^{tm1d(EUCOMM)Wtsi} Smg9^{tm1b(EUCOMM)Wtsi}	PMC9978031
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Smg9^{tm1b(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Smg9^{tm1b(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Smg9^{tm1b(EUCOMM)Wtsi}	PMC6671969
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.	American journal of human genetics (March 2016)	Smg9^em1(IMPC)J	PMC4833216
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Smg9^{tm1b(EUCOMM)Wtsi}	PMC5159622

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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
Smg9^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Smg9^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Smg9^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Smg9^em1(IMPC)J	Indel	Mice

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: Smg9 MGI:1919247

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

DSS Histology

X-ray

Gross Morphology Embryo E18.5

Anti-nuclear antibody assay

Auditory Brain Stem Response

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Smg9 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data