| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Trisomy 13 |
|
Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Abnormal antihelix morphology... |
ORPHA:3378 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Abnormal vertebral morphology, Aortic valve stenosis, Sparse scalp hair, Hearing im... |
ORPHA:536471 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Delayed puberty, Brachydacty... |
OMIM:233270 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Absent thumb, Hearing impairment, Short thumb, Prominent nose, Cryptorchidism, Trun... |
OMIM:617516 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Overlapping toe, Overlapping fingers, C... |
OMIM:618494 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defe... |
ORPHA:508498 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Stillbirth, Renal agenesis, Abnormal heart morphology, Abnor... |
ORPHA:294975 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B... |
ORPHA:371428 |
| Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Ventricular septal defect, Radioul... |
ORPHA:2876 |
| Hoxha-Aliu Syndrome |
|
Low-set ears, Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial sep... |
OMIM:620662 |
| Mosaic Trisomy 1 |
|
Low-set ears, Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ven... |
ORPHA:1692 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Alg9-Cdg |
|
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Delayed cranial suture closure, V... |
ORPHA:79328 |
| 1Q21.1 Microdeletion Syndrome |
|
Toe syndactyly, Broad thumb, Cryptorchidism, Sensorineural hearing impairment, Talipes equinovaru... |
ORPHA:250989 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Depressed nasal ridge, Hypoplastic left heart, Hearing impairment, Aplas... |
ORPHA:1727 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Short hallux,... |
ORPHA:508488 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, At... |
OMIM:618316 |
| Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Aortic valve stenosis, Hypoplastic left heart, Tetralogy of... |
OMIM:220210 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Choanal atresia, Depressed nasal bridge, Ventricular hypertrophy, Hearing impairment, Chorioretin... |
ORPHA:284169 |
| Verheij Syndrome |
|
Wide nasal bridge, Short 5th finger, Renal hypoplasia, Broad nasal tip, Branchial cyst, Clinodact... |
OMIM:615583 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... |
ORPHA:363958 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Coarctation ... |
ORPHA:261243 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly... |
ORPHA:1120 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Joint contracture of the hand, Clinodactyly, Microphthalmia, Bifid nose, Cataract, ... |
OMIM:136760 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... |
ORPHA:138 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Frontal upsweep of hair, Cryptorchidism, Mitra... |
ORPHA:93932 |
| Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog... |
OMIM:179613 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Talipes equinovarus, Microphthalmia, Rock... |
OMIM:616570 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Abnormality of the spleen, Abnormal antihelix morphology, Encephalocele, ... |
ORPHA:2162 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism... |
OMIM:301056 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... |
OMIM:615415 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Osteopenia, Conductive hearing impairment, Short toe, Sandal gap, Delayed skeletal ... |
OMIM:617877 |
| Sandestig-Stefanova Syndrome |
|
Low-set ears, Wide nasal bridge, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Musc... |
OMIM:618804 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... |
OMIM:618845 |
| Pseudotrisomy 13 Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Ventricular septal defec... |
OMIM:264480 |
| Trisomy 1Q |
|
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Congeni... |
ORPHA:261344 |
| Heart And Brain Malformation Syndrome |
|
Low-set ears, Interrupted aortic arch, Wide nasal bridge, Depressed nasal bridge, Hand clenching,... |
OMIM:616920 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... |
OMIM:274000 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Low-set ears, Aortic valve stenosis, Hearing impairment, Clinodactyly, Long hallux, Overlapping t... |
OMIM:618164 |
| Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Facial hypertrichosis, Broad thumb, Hearing impairment, Delayed cranial suture clos... |
OMIM:180849 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Decreased liver function, Cholestasis, Decreased circulating T4 concentration, Asci... |
OMIM:608104 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Anteverted nares, Hepatic cysts, Ventricular septal defect, Renal cyst... |
OMIM:263630 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Atri... |
OMIM:618870 |
| Sotos Syndrome |
|
Low-set ears, Long metacarpals, Genu valgum, Cryptorchidism, Ventricular septal defect, Long phal... |
OMIM:117550 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent urinary tract infections, Joint stiffness, Splenomegaly, Ventricular... |
OMIM:620210 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Low-set ears, Hearing impairment, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc... |
OMIM:618454 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Low-set ears, Cataract, Wide nasal bridge, Scoliosis, Conductive hearing impairment, Aortic valve... |
ORPHA:2780 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Low-set ears, Short 5th finger, Sparse eyebrow, Broad thumb, Secundum atrial septal defect, Sanda... |
OMIM:600987 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def... |
ORPHA:101028 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature |
ORPHA:141333 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atri... |
OMIM:306955 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Renal insufficiency, Astigmati... |
OMIM:617159 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Persistent fetal circula... |
ORPHA:363705 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ... |
ORPHA:730 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Long eyelashes, Cryptorchidism, Single transverse palmar crease, Coarctation of aor... |
OMIM:615502 |
| Alagille Syndrome 1 |
|
Low-set ears, Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Ci... |
OMIM:118450 |
| Transaldolase Deficiency |
|
Low-set ears, Depressed nasal bridge, Hepatic fibrosis, Micronodular cirrhosis, Decreased liver f... |
OMIM:606003 |
| Lowry-Maclean Syndrome |
|
Low-set ears, Megalocornea, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, H... |
ORPHA:2409 |
| Chromosome 9P Deletion Syndrome |
|
Low-set ears, Dermatoglyphic variants, Ventricular septal defect, Short neck, Atrial septal defec... |
OMIM:158170 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint hypermobility, Distal amyotrophy, Sandal gap, Abnormal heart morphology, Decreased nerve co... |
ORPHA:477817 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Low-set ears, Broad thumb, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atri... |
ORPHA:329224 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Dry hair, Hearing impairment, Clinodactyly, Ovarian cyst, Sparse hair, Polycystic k... |
OMIM:311200 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Depressed nasal ridge, Narrow chest, Occipital encephalocele, Hyperechogenic kidney... |
OMIM:613885 |
| Duane-Radial Ray Syndrome |
|
Sensorineural hearing impairment, Ventricular septal defect, Aplasia of metacarpal bones, Slit-li... |
OMIM:607323 |
| Gm1 Gangliosidosis |
|
Low-set ears, Cherry red spot of the macula, Hepatosplenomegaly, Ventricular septal defect, Gener... |
ORPHA:354 |
| Oculoectodermal Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Microcornea, Bladder exstrophy, Supernumerary nipple, ... |
OMIM:600268 |
| Microphthalmia, Syndromic 3 |
|
Anophthalmia, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal defect, Microp... |
OMIM:206900 |
| Microphthalmia, Syndromic 9 |
|
Low-set ears, Congenital diaphragmatic hernia, Anophthalmia, Ventricular septal defect, Neonatal ... |
OMIM:601186 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair... |
OMIM:253010 |
| Cranioectodermal Dysplasia 1 |
|
Low-set ears, Chronic kidney disease, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges... |
OMIM:218330 |
| Isolated Klippel-Feil Syndrome |
|
Webbed neck, Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morpholog... |
ORPHA:2345 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Low-set ears, Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defec... |
OMIM:265380 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Low-set ears, Depressed nasal bridge, Peters anomaly, Supernumerary nipple, Atrioventricular cana... |
OMIM:618929 |
| Carpenter Syndrome 1 |
|
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow... |
OMIM:201000 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, High anterior hairline, Hearing impairment, Recurrent urinary tract in... |
ORPHA:363444 |
| Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Ventric... |
OMIM:157800 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge, Sparse eyebrow, Multiple muscular ventricular septal defects, Polyhydramnios, ... |
OMIM:620070 |
| Noonan Syndrome 2 |
|
Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hai... |
OMIM:605275 |
| Charge Syndrome |
|
Low-set ears, Unilateral microphthalmos, Anophthalmia, Cryptorchidism, Sensorineural hearing impa... |
OMIM:214800 |
| Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cry... |
OMIM:256520 |
| Mosaic Trisomy 16 |
|
Short forearm, Hearing impairment, Clinodactyly, Large placenta, Ventricular septal defect, Singl... |
ORPHA:1708 |
| Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Cr... |
ORPHA:79324 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Type I diabetes mellitus, Limitation of joint mobility, Arterial stenosis, Cerebral ... |
ORPHA:1192 |
| Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Ventricular septal... |
OMIM:611134 |
| Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Aortic valve stenosis, Multicystic kidney dysplasia, Toe synd... |
ORPHA:2308 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairment, Chorioretin... |
ORPHA:268249 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Cryptorchi... |
OMIM:210710 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Sensorineural hearing... |
OMIM:300166 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
| Snijders Blok-Campeau Syndrome |
|
Low-set ears, Wide nasal bridge, Umbilical hernia, Prominent nose, Astigmatism, Inguinal hernia, ... |
OMIM:618205 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Abn... |
OMIM:249000 |
| Neurooculocardiogenitourinary Syndrome |
|
Low-set ears, Peters anomaly, Bilateral cryptorchidism, Prominent nasal bridge, Patent foramen ov... |
OMIM:618652 |
| Alveolar Echinococcosis |
|
Abnormal vertebral morphology, Abnormal mesentery morphology, Abnormal spleen morphology, Abnorma... |
ORPHA:284 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Abnormal hip bone morphol... |
ORPHA:577 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Acrocardiofacial Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Cryptorchidism, Ventricular septal defect, Abnor... |
ORPHA:2008 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Clubbing of toes, Recurrent otitis media, Tetralogy of Fallot, Cryptorchidism,... |
ORPHA:3304 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hypospadias, Hearing impairment, 11 pairs of ribs, Anophthalmia, C... |
ORPHA:77298 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Low-set ears, Hearing impairment, Prominent ear helix, Cryptorchidism, Hypospadias, Patent ductus... |
OMIM:618659 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Low-set ears, Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Low posterior hair... |
OMIM:617506 |
| Noonan Syndrome 9 |
|
Webbed neck, Sparse eyebrow, Hydroureter, Prominent corneal nerve fibers, Cryptorchidism, Ventric... |
OMIM:616559 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Echogenic fetal bowel, Recurrent otitis media, Internally rotated shoulders, Hepato... |
OMIM:619503 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Phace Association |
|
Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual t... |
OMIM:606519 |
| Kabuki Syndrome |
|
Small hand, Congenital diaphragmatic hernia, Cryptorchidism, Sensorineural hearing impairment, Re... |
ORPHA:2322 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Retinal vascular tortuosi... |
OMIM:192430 |
| Noonan Syndrome 10 |
|
Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Short neck, Atria... |
OMIM:616564 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Sandal gap, Narrow nose, Clinodactyly of the 5th finger, Congenital diaphra... |
OMIM:617602 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Delayed skeletal maturation, Fetal distress, Bell-shaped ... |
OMIM:614857 |
| Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Bell-shaped thorax, Ventricular septal defect, Narrow palm, Atrial septal defect, O... |
OMIM:244450 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Noonan Syndrome |
|
Dilatation of the renal pelvis, Abnormality of the spleen, Cryptorchidism, Sensorineural hearing ... |
ORPHA:648 |
| Abruzzo-Erickson Syndrome |
|
Hypospadias, Microcornea, Toe syndactyly, Conductive hearing impairment, Ulnar deviation of finge... |
ORPHA:921 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma... |
ORPHA:1900 |
| Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... |
OMIM:174400 |
| Floating-Harbor Syndrome |
|
Low-set ears, Broad thumb, Recurrent otitis media, Cryptorchidism, Low posterior hairline, Short ... |
OMIM:136140 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Interrupted aortic arch, Webbed neck, Generalized edema, Tetralogy of Fallot, Overl... |
OMIM:617478 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Muscular dystrophy, Abnormal left ventricular function, Cardiomyopa... |
OMIM:613155 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Sensorineural hearing impairment, Bi... |
OMIM:612474 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor... |
OMIM:253000 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Robinow Syndrome |
|
Low-set ears, Flared nostrils, Multicystic kidney dysplasia, Marked delay in eruption of permanen... |
ORPHA:97360 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Precocious puberty, Coarctation of aorta, Ethmoidal encephalocele,... |
ORPHA:280195 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Optic disc h... |
OMIM:300514 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... |
OMIM:616307 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... |
ORPHA:400 |
| Microphthalmia With Limb Anomalies |
|
Low-set ears, Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes ... |
OMIM:206920 |
| Alg3-Cdg |
|
Cataract, Osteopenia, Hearing impairment, Abnormality of the nose, Cardiomyopathy, Decreased live... |
ORPHA:79321 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... |
OMIM:142900 |
| Myhre Syndrome |
|
Low-set ears, Aortic valve stenosis, Limitation of joint mobility, Hearing impairment, Clinodacty... |
OMIM:139210 |
| Mosaic Trisomy 9 |
|
Low-set ears, Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Crypto... |
ORPHA:99776 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Natal tooth, ... |
OMIM:146510 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Clinodactyly, Atrial septal defect, Patent ductus art... |
ORPHA:96148 |
| Kleefstra Syndrome |
|
Limitation of joint mobility, Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricul... |
ORPHA:261494 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Hearing impairment, Hypogon... |
OMIM:615996 |
| Restrictive Dermopathy |
|
Low-set ears, Thin ribs, Natal tooth, Increased anterioposterior diameter of thorax, Large placen... |
ORPHA:1662 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Femoral-Facial Syndrome |
|
Low-set ears, Toe syndactyly, Encephalocele, Humeroradial synostosis, Ventricular septal defect, ... |
OMIM:134780 |
| 17Q24.2 Microdeletion Syndrome |
|
Wide nasal bridge, Broad neck, Otosclerosis, Broad thumb, Abnormality of the ankle, Upper limb un... |
ORPHA:529962 |
| Kabuki Syndrome 2 |
|
Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Atrial septal defect, Hip ... |
OMIM:300867 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Pear-shaped nose, Cryptorchidism, Ventricular septal defect, Narrow palm, B... |
OMIM:610443 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Intrauterine growth retardation, Overlapping fingers, Vent... |
OMIM:618142 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... |
OMIM:231060 |
| Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Ventricular septal defect, Atrial... |
ORPHA:769 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Choanal atresia, Small hand, Absent gallbladder, Cryptorchidism, Barrel-... |
OMIM:300712 |
| Phace Syndrome |
|
Retinal vascular malformation, Cataract, Ectopic thyroid, Aortic root aneurysm, Abnormal sternum ... |
ORPHA:42775 |
| Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Small hand, Genu valgum, Cryptorchidism, Mitral valve prolapse, Atrial septal defec... |
OMIM:615873 |
| 15Q24 Microdeletion Syndrome |
|
Wide nasal base, Abnormality of the outer ear, Small hand, Hearing impairment, Clinodactyly, Cong... |
ORPHA:94065 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Micropenis, Atrial septal defect, ... |
ORPHA:163979 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Finger syndactyly, Limited knee flexio... |
ORPHA:93323 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Hypoplastic scapulae, Abnormality of the costochondral junct... |
ORPHA:96334 |
| Ogden Syndrome |
|
Low-set ears, Flared nostrils, Delayed cranial suture closure, Recurrent otitis media, Cryptorchi... |
OMIM:300855 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Orofaciodigital Syndrome Vi |
|
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Renal dysplasia, Hypoplastic left he... |
OMIM:277170 |
| Catel-Manzke Syndrome |
|
Low-set ears, Narrow naris, Ulnar deviation of the 2nd finger, Genu valgum, Cryptorchidism, Ventr... |
OMIM:616145 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Rhizomelia, Hearing impairment, Clinodactyly, Delayed skele... |
OMIM:614114 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb... |
ORPHA:457395 |
| Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... |
ORPHA:268882 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing... |
ORPHA:672 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Hearing impairment, Overlapping toe, Cryptorchidism, Ventricular septal de... |
ORPHA:163956 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Bicuspid aortic v... |
OMIM:130720 |
| Floating-Harbor Syndrome |
|
Low-set ears, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Short neck, Atrial se... |
ORPHA:2044 |
| Stevenson-Carey Syndrome |
|
Low-set ears, Joint contracture of the hand, Underdeveloped nasal alae, Recurrent urinary tract i... |
OMIM:611961 |
| Kbg Syndrome |
|
Bilateral conductive hearing impairment, Cryptorchidism, Short neck, Macrotia, Delayed skeletal m... |
ORPHA:2332 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Oculoskeletodental Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Nephrocalcinosis, Short 5th finger, Conductive hearing... |
ORPHA:557003 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... |
OMIM:270400 |
| Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Hypoplastic left atrium, Broad nasal tip, Congenital diaphragmatic hernia, Ano... |
OMIM:615524 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Thoracolumbar kyphosis, Depressed nasal bridge, Broad nasal tip, Epiphyseal dyspla... |
OMIM:617425 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Hearing impairment, Atrial septal defect, Microphthalmia, Holoprose... |
ORPHA:1052 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impairm... |
OMIM:620305 |
| 2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphol... |
ORPHA:251014 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Frank-Ter Haar Syndrome |
|
Low-set ears, Megalocornea, Delayed cranial suture closure, Anterior concavity of thoracic verteb... |
OMIM:249420 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Toriello-Carey Syndrome |
|
Low-set ears, Wide anterior fontanel, Narrow chest, Sparse eyebrow, Hearing impairment, Cardiomyo... |
ORPHA:3338 |
| Mullegama-Klein-Martinez Syndrome |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Hypoplastic left heart, High anterior ha... |
OMIM:301022 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... |
ORPHA:2970 |
| Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Highly arched eyebrow, Hearing impairment, Tetralogy of Fallot, Anteverted... |
ORPHA:96147 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Underdeveloped superior crus of antihelix, Hearing impairment, Delayed eruption of teeth, Clinoda... |
ORPHA:369950 |
| Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Molar tooth sign... |
OMIM:615665 |
| Meckel Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Encephalocele, Anophthalmia, Cryptorchi... |
ORPHA:564 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic ki... |
OMIM:173900 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Chorioretinal hypopigmentation, Cardiac rhabdomyoma, Renal angiomyolipoma... |
ORPHA:805 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma |
OMIM:107550 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala... |
ORPHA:1617 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:2255 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Low-set ears, Wide nasal bridge, Midshaft hypospadias, Delayed eruption of teeth, Camptodactyly o... |
ORPHA:2863 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Multiple muscular ventricular septal defects, Sensorineural hearing impairment, A... |
ORPHA:391641 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal helix morphology, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicuspi... |
ORPHA:453499 |
| Diabetic Embryopathy |
|
Hearing impairment, Cryptorchidism, Abnormality of the neck, Ventricular septal defect, Renal hyp... |
ORPHA:1926 |
| Opitz Gbbb Syndrome |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, Natal tooth, Congenital diaphragmatic her... |
ORPHA:2745 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cataract, Muscular dystrophy, Abnormality iris morphology, Occipital encephalocele... |
ORPHA:370959 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Distal Deletion 15Q |
|
Low-set ears, Multicystic kidney dysplasia, Small hand, Hearing impairment, Genu valgum, Congenit... |
ORPHA:1596 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... |
OMIM:618280 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... |
OMIM:186350 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Umbilical hernia, Muscular ventricular septal defect, Megalocornea, Inguinal her... |
OMIM:618354 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Aplasia of posterior communicating artery, Bell-shaped thorax, Short neck, Dextrocardia, Myelomen... |
OMIM:613686 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Limb muscle weakness... |
OMIM:161800 |
| Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... |
OMIM:215140 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... |
OMIM:600001 |
| Birk-Aharoni Syndrome |
|
Duplicated collecting system, Hearing impairment, Long nasal bridge, Muscular ventricular septal ... |
OMIM:620071 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Low posterior hairli... |
OMIM:213980 |
| Joubert Syndrome 14 |
|
Low-set ears, Optic atrophy, Highly arched eyebrow, Prominent nasal bridge, Encephalocele, Intrac... |
OMIM:614424 |
| Kondoh Syndrome |
|
Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Intrauterine growth retar... |
OMIM:606242 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Cataract, Increased variability in muscle fiber diameter, Sensory axonal neuropa... |
ORPHA:52430 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Ventricular septal defect, Atria... |
OMIM:190685 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Hepatic steatosis, 3-Methylglutaconic aciduria, S... |
ORPHA:17 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... |
ORPHA:798 |
| Methimazole Embryofetopathy |
|
Choanal atresia, Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal... |
ORPHA:1923 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Ductus venosus agenesis, Situs inversus totalis, Right aor... |
OMIM:620642 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, I... |
OMIM:301068 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Radioulnar synostosis, Vertebral clefting, Lobar holoprosencephaly, Short nose, Syn... |
OMIM:614701 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Acromesomelia, Depressed nasal bridge, Vertebral wedging, Abnormal form of the vertebral bodies, ... |
ORPHA:40 |
| Chromosome 10Q26 Deletion Syndrome |
|
Low-set ears, Flared nostrils, Toe syndactyly, Cryptorchidism, Sensorineural hearing impairment, ... |
OMIM:609625 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Tetralogy of Fa... |
ORPHA:3426 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| 3C Syndrome |
|
Low-set ears, Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Abnormal mitral v... |
ORPHA:7 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Perimembranous ventri... |
OMIM:620135 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... |
OMIM:614300 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal hip bone morphology, Joint stiffness, Vesicoureteral reflux, Abnorm... |
ORPHA:1166 |
| Primary Ciliary Dyskinesia |
|
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Rod-cone dystrophy, Clubbing,... |
ORPHA:244 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Natal tooth, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:353281 |
| Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Synostosis of joints, Natal tooth, Distal shortening of limbs, Bowing of the long b... |
ORPHA:50945 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con... |
OMIM:614886 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Cryptorchidism, Short neck, Microp... |
ORPHA:2059 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastroin... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastroin... |
ORPHA:99228 |
| Monosomy X |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastroin... |
ORPHA:99226 |
| Turner Syndrome |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastroin... |
ORPHA:881 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Ectopia pupillae, Short neck, Aplasia of the thymus, Sprengel anomaly, Atrial septa... |
OMIM:618223 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Microphthalmia, Lenz Type |
|
Hearing impairment, Chorioretinal coloboma, Finger syndactyly, Cryptorchidism, Renal hypoplasia/a... |
ORPHA:568 |
| Benign Schwannoma |
|
Nasal polyposis, Peripheral schwannoma, Vertigo, Schwannoma, Abnormality of the liver, Abnormal c... |
ORPHA:252164 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Cryptorchidism, Joint hypermobi... |
OMIM:610125 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal ... |
OMIM:301040 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cryptorchidism, Ventricula... |
OMIM:150250 |
| Congenital Sialidosis Type 2 |
|
Low-set ears, Optic atrophy, Cataract, Generalized hypertrichosis, Hearing impairment, Umbilical ... |
ORPHA:93400 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Ventricular s... |
OMIM:280000 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Congenital Herpes Simplex Virus Infection |
|
Intrauterine growth retardation, Hydranencephaly |
ORPHA:293 |
| Isolated Polycystic Liver Disease |
|
Back pain, Multiple renal cysts, Vascular dilatation, Hepatomegaly, Polycystic liver disease, Abn... |
ORPHA:2924 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous f... |
OMIM:186500 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Depressed nasal bridge, Clinodactyly, Bulbous nose, Cryptorchidism, Patent foramen ... |
OMIM:616789 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in... |
OMIM:613095 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Maternal Phenylketonuria |
|
Hypoplastic helices, Wide nasal bridge, Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot... |
ORPHA:2209 |
| Alagille Syndrome |
|
Keratoconus, Cholestasis, Abnormality of the ureter, Cryptorchidism, Ventricular septal defect, R... |
ORPHA:52 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Fetal ascites, Micromelia, F... |
OMIM:215045 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Low-set ears, Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes e... |
OMIM:255800 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| King-Denborough Syndrome |
|
Low-set ears, Centrally nucleated skeletal muscle fibers, Minicore myopathy, Broad nasal tip, Web... |
OMIM:619542 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... |
OMIM:614921 |
| Feingold Syndrome 1 |
|
Low-set ears, Hearing impairment, Ventricular septal defect, Patent ductus arteriosus, Annular pa... |
OMIM:164280 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Aortic valve stenosis, Broad thumb, Natal tooth, Cryptorchidism, Sensorineural hear... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Aortic valve stenosis, Broad thumb, Natal tooth, Cryptorchidism, Sensorineural hear... |
ORPHA:353277 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Osteopenia, Alopecia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosph... |
OMIM:163200 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Unilateral renal agenesis, Choanal atresia, Webbed neck, Renal agenesis, Hypertrich... |
OMIM:619227 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Skeletal muscle atrophy, Secundum atrial septal defect, Decreased liver function, H... |
OMIM:608779 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Hearing impairment, Sandal gap, Talipes valgus, Decreased nerve conduction ... |
OMIM:616652 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low-set ears, Hypospadias, Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of fin... |
OMIM:615761 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomel... |
ORPHA:1354 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... |
OMIM:113000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Intrauterine growth retardation, Cerebellar hypoplasi... |
OMIM:616171 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Ventricular septal defect, Short neck, Sprengel anomaly, Atrial septal defect, Hypo... |
ORPHA:124 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Nemaline Myopathy 2 |
|
Low-set ears, Increased variability in muscle fiber diameter, Hand clenching, Limb muscle weaknes... |
OMIM:256030 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda... |
OMIM:217085 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... |
ORPHA:226307 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... |
OMIM:251450 |
| Holt-Oram Syndrome |
|
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... |
ORPHA:392 |
| Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Ventricular... |
OMIM:188400 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... |
ORPHA:261183 |
| Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
| 22Q11.2 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Tali... |
ORPHA:567 |
| Walker-Warburg Syndrome |
|
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Cryptorchidism... |
ORPHA:899 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Ventricular septal defe... |
OMIM:614815 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short lo... |
OMIM:613819 |
| Martsolf Syndrome 1 |
|
Low-set ears, Cryptorchidism, Low posterior hairline, Talipes equinovarus, Broad fingertip, Micro... |
OMIM:212720 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Broad thumb, Overlapping toe, Sensorineural hearing impairment, Ven... |
ORPHA:435638 |
| Koolen-De Vries Syndrome |
|
Cryptorchidism, Arachnodactyly, Bicuspid aortic valve, Hypospadias, Hip dislocation, Cataract, Th... |
ORPHA:96169 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| 1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Tetralogy of Fallot, Cryptorchidism, Talipes equinovarus, Hydrocephalus, H... |
ORPHA:250994 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Hypoplasia of ... |
OMIM:616546 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Halperin-Birk Syndrome |
|
Optic atrophy, Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Long eyelashes,... |
OMIM:618651 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, Patent ductus arte... |
OMIM:608328 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... |
OMIM:600175 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Abnormal earlobe morphology, Sensorineural hearing impairment, Ventricular septal... |
ORPHA:261330 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormality of the ureter, Congenital diaphragmatic hernia, Cryptorchidism, Sh... |
ORPHA:2311 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Delayed skeleta... |
ORPHA:2616 |
| Chops Syndrome |
|
Hearing impairment, Cryptorchidism, Ventricular septal defect, Curly hair, Patent ductus arterios... |
OMIM:616368 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis o... |
ORPHA:1106 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Supernumerary nipple... |
OMIM:305600 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal defect, Microp... |
OMIM:616975 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Talipes equinovarus, Aplasia/hypopl... |
ORPHA:2839 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Joint contracture of the 5th finger, Cryptorchidism, Atrial septal defect, Patent ductus arterios... |
ORPHA:363611 |
| Mucopolysaccharidosis Type 4 |
|
Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint di... |
ORPHA:582 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Cataract, Hearing impairment, Decreased pineal volume, Microp... |
OMIM:301108 |
| Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Sensorineural hearing im... |
ORPHA:314588 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Occipital encephalocele, Elevated ... |
OMIM:216360 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Short neck, ... |
OMIM:618000 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans... |
ORPHA:66634 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydac... |
ORPHA:380 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit |
OMIM:616428 |
| Diamond-Blackfan Anemia 1 |
|
Delayed cranial suture closure, Ventricular septal defect, Short neck, Small thenar eminence, Atr... |
OMIM:105650 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ankle swelling, Peripheral edema, Ventricular septal defect, Constrictive... |
ORPHA:99095 |
| Giant Cell Arteritis |
|
Optic atrophy, Epistaxis, Vasculitis, Conductive hearing impairment, Aortic dissection, Hearing i... |
ORPHA:397 |
| Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Aortic valve stenosis, Alopecia, Abnormal aortic morphology, Retinopathy... |
ORPHA:2396 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Spinal musc... |
OMIM:615290 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Atrial septal defect, Syn... |
OMIM:175700 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Anophthalmia, Renal h... |
ORPHA:2538 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... |
ORPHA:79345 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Increased axial length of the globe, Tracheomalacia, Sparse lateral eyebr... |
ORPHA:513456 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Neck joint contracture, Thoracolumbar scoliosis, A... |
OMIM:255600 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... |
ORPHA:1457 |
| Multiple Pterygium Syndrome, X-Linked |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Cystic hygroma, Joint dislocation, Short finger, ... |
OMIM:312150 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Clinodactyly, Delayed skeletal maturation, Delayed e... |
ORPHA:73272 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Cryptorchidism, Sensorineural hearing impai... |
ORPHA:2789 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, High anterior hairline, Muscular ventricular septal defect, Single transverse palma... |
OMIM:620062 |
| De Barsy Syndrome |
|
Low-set ears, Prominent veins on trunk, Decreased muscle mass, Cryptorchidism, Ventricular septal... |
ORPHA:2962 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability |
OMIM:240800 |
| Mmep Syndrome |
|
Microphthalmia, Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Crossed fus... |
ORPHA:3097 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Renal hypoplasia, Hearing impairment, Delayed skeletal maturation,... |
OMIM:616817 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Short neck, Short foot, Abnormal pin... |
ORPHA:915 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dilatation of the cerebral artery, Ascites, Back pain, Renal cyst, Polycystic liver disease |
OMIM:174050 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairme... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairme... |
ORPHA:352665 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Choanal atresia, Abnormality of the urinary system, Hearing impair... |
ORPHA:1199 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Cataract, Platyspondyly, Wide nasal bridge, Narrow chest, Abnormal clavicle morphol... |
ORPHA:93267 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Small hand, Elevated circulating luteinizing hormone level, Premature graying of ha... |
OMIM:300845 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Low-set ears, Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Oligohydramnios, Ingu... |
ORPHA:397590 |
| Cohen Syndrome |
|
Genu valgum, Mitral valve prolapse, Narrow palm, Short metacarpal, Decreased response to growth h... |
OMIM:216550 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hearing impairment, Recurrent otitis media, Streak ovary, Cryptorchidism, Low posterior hairline,... |
ORPHA:1772 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Suleiman-El-Hattab Syndrome |
|
Low-set ears, Hearing impairment, Clinodactyly, Cryptorchidism, Ventricular septal defect, Atrial... |
OMIM:618950 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Low-set ears, Small hand, Conductive hearing impairment, Sandal gap, Prominent nasal bridge, Asti... |
OMIM:618885 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Pectus carinatum, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower lim... |
OMIM:620389 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Atri... |
OMIM:617088 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Coarctation of aorta, Long eyelashes, Dehydration |
OMIM:616069 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... |
OMIM:268310 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Low-set ears, Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of th... |
OMIM:619657 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Decreased muscle mass, Abnormal tibia morphology, Contrac... |
ORPHA:2614 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... |
ORPHA:485 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w... |
OMIM:253200 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Optic nerve hypoplasia, Conductive hearing impairment, Absent thumb, Short 1st ... |
OMIM:609053 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ... |
ORPHA:217085 |
| Nicolaides-Baraitser Syndrome |
|
Wide nasal base, Dry hair, Broad 2nd toe, Cryptorchidism, Low posterior hairline, Absent eyebrow,... |
OMIM:601358 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Low-set ears, Wide nasal bridge, Scoliosis, Cupped ear, Broad nasal tip, Atrioventricular canal d... |
OMIM:619480 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Congenital diaphrag... |
ORPHA:2369 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Ectopia pupillae, Recurrent otitis media, Lo... |
ORPHA:261552 |
| Orofaciodigital Syndrome Xvii |
|
Low-set ears, Renal hypoplasia, Hearing impairment, Clinodactyly, Tetralogy of Fallot, Prominent ... |
OMIM:617926 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... |
OMIM:270100 |
| Simpson-Golabi-Behmel Syndrome |
|
Abnormal helix morphology, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Broad... |
ORPHA:373 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Proteus Syndrome |
|
Depressed nasal bridge, Spinal canal stenosis, Venous malformation, Splenomegaly, Kyphoscoliosis,... |
OMIM:176920 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Delayed skeletal maturation, Abnormal metaphysis morphology, Reduc... |
ORPHA:2501 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral... |
OMIM:602782 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Pigmentary retinopathy, Cryptorchidism, Left ventricular hypertrophy, Hyperlo... |
OMIM:613156 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ... |
OMIM:603194 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Aplasia of the bladder, Ho... |
OMIM:612284 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture... |
OMIM:178110 |
| Srd5A3-Cdg |
|
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Palmoplantar ke... |
ORPHA:324737 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Low-set ears, Renal dysplasia, Decreased response to growth hormone stimulation test, Mitral sten... |
OMIM:617260 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ... |
ORPHA:217093 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... |
OMIM:613751 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Joint contracture of the hand, Overlapping fingers, Bilateral single transverse pal... |
OMIM:244300 |
| Anauxetic Dysplasia 2 |
|
Sparse hair, Posterior wedging of vertebral bodies, Delayed skeletal maturation, Coxa valga, Hypo... |
OMIM:617396 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Adrenal calc... |
ORPHA:51608 |
| Trichohepatoenteric Syndrome 1 |
|
Low-set ears, Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Curly hair, Hepa... |
OMIM:222470 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Narrow chest, Arthrogryposis multiplex congenita, Paraspinal muscle hypertrophy, Lumbar hyperlord... |
OMIM:602484 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Low-set ears, Depressed nasal ridge, Thin ribs, Cystic hygroma, Joint dislocation, Short finger, ... |
OMIM:253290 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Barrel-shaped chest, ... |
ORPHA:505248 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Aortic root aneurysm, Lower limb muscle weakness,... |
ORPHA:171881 |
| Williams Syndrome |
|
Megalocornea, Ventricular septal defect, Flat cornea, Patent ductus arteriosus, Macrotia, Short n... |
ORPHA:904 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... |
ORPHA:261537 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Preaxial... |
OMIM:147750 |
| Placental Insufficiency |
|
Small placenta, Abnormal placenta morphology, Abnormal heart morphology, Abnormal umbilical cord ... |
ORPHA:439167 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Polyhydramnios, Ventricular septal defect... |
OMIM:615503 |
| Wrinkly Skin Syndrome |
|
Low-set ears, Hypoplasia of the musculature, Delayed cranial suture closure, Cryptorchidism, Tali... |
OMIM:278250 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Braddock-Carey Syndrome 1 |
|
Wide nasal bridge, Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteverted nares, Vent... |
OMIM:619980 |
| Basal Cell Nevus Syndrome 1 |
|
