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