Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Narrow chest, Atrial septal defect, Iris coloboma, Bilateral singl... |
ORPHA:3378 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Lymp... |
ORPHA:536471 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... |
OMIM:233270 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Promin... |
OMIM:617516 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Coloboma, Abnorm... |
ORPHA:508498 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Prominent fingertip pads, Patent foramen ovale, Cryptorchidism, Renal hypop... |
OMIM:618494 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal thorax morphology, Upper limb phocomelia, Abnormal heart mor... |
ORPHA:294975 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os... |
ORPHA:371428 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... |
ORPHA:2876 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn... |
ORPHA:1692 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Alg9-Cdg |
|
Short neck, Hydrops fetalis, Right ventricular dilatation, Large fleshy ears, Narrow greater scia... |
ORPHA:79328 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Clinodactyly of the 5th finger, Iris coloboma, Broad hallux phalanx, Crypt... |
ORPHA:250989 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormo... |
OMIM:220210 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Sing... |
ORPHA:508488 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Parachute mitral valve, Prominent nose, Synophrys, Atrial septal defect, Pulmona... |
OMIM:618316 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... |
ORPHA:284169 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Urethral stenosis, Depressed nasal ridge, Anterior creases ... |
ORPHA:1727 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Truncus arteriosus, Ventricular septal defect, An... |
OMIM:615583 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... |
ORPHA:1120 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363958 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aor... |
ORPHA:261243 |
Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Coloboma, Conductive hearing impairment, Wide nasal bridge, S... |
OMIM:136760 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Fg Syndrome Type 1 |
|
Single transverse palmar crease, Prominent nose, Generalized joint laxity, Abnormal sternum morph... |
ORPHA:93932 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Cerebellar hypoplasia, Talipes equinovarus, Microphthalmia, Arthrogryp... |
OMIM:616570 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Poster... |
OMIM:179613 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormality of th... |
ORPHA:2162 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, 11 pairs of ribs, Sandal gap, Anteverted nares, Posteriorly rotated ears, Pectus exca... |
OMIM:617877 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Polyhydramnios, Pulmonary artery atresia, Vesicoureteral reflux, Micropenis,... |
OMIM:301056 |
Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Prominent metopic ridge, Laterally extended eyebrow, Rocker bottom foot... |
OMIM:618804 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Encephalo... |
OMIM:264480 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypo... |
ORPHA:138 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle... |
OMIM:274000 |
Trisomy 1Q |
|
Anophthalmia, Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Multicystic kidne... |
ORPHA:261344 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Prominent metopic ridge, Anteverted nares, Ventricular septal defect, Camptodac... |
OMIM:616920 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Prominent nose, Bilateral cryptorchidism, P... |
OMIM:180849 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Decreased fetal movement, Edema, Short neck, Cryptorchidism, Patent ductus arterios... |
OMIM:608104 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Anteverted nares, Polyhydramnios, Preaxial hand polydactyl... |
OMIM:263630 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Cataract, Posteriorly rotated ears, Fa... |
ORPHA:2780 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Sotos Syndrome |
|
Accelerated skeletal maturation, Otitis media, Conductive hearing impairment, Atrial septal defec... |
OMIM:117550 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect... |
OMIM:600987 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy,... |
ORPHA:101028 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, J... |
OMIM:620210 |
Biemond Syndrome Type 2 |
|
Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Polyhydra... |
ORPHA:363705 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Tap... |
OMIM:617159 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ... |
OMIM:306955 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Renal cyst,... |
OMIM:618454 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Alagille Syndrome 1 |
|
Long nose, Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid ca... |
OMIM:118450 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... |
OMIM:618870 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Patent ... |
OMIM:615502 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Short neck, Splenomegaly, Patent... |
OMIM:606003 |
Chromosome 9P Deletion Syndrome |
|
Short neck, Atrial septal defect, Micropenis, Long toe, Anteverted nares, Depressed nasal bridge,... |
OMIM:158170 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Bilateral cryptorch... |
ORPHA:2409 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Joint laxity, Wide nose, Overriding aorta... |
ORPHA:477817 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Depressed... |
OMIM:613885 |
Gm1 Gangliosidosis |
|
Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bodies, Cherry red spot of... |
ORPHA:354 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Depressed nasal bridge, Supernumerary nipple, Short neck, Lymphedema, ... |
OMIM:600268 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Orofaciodigital Syndrome I |
|
Dry hair, Hepatic fibrosis, Sparse hair, Syndactyly, Alopecia, Myelomeningocele, Wide nasal bridg... |
OMIM:311200 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Low anterior hairline, Protrud... |
ORPHA:329224 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Micropenis, V... |
OMIM:206900 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary artery atresia, Di... |
OMIM:601186 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Posterior rib fusion, At... |
OMIM:265380 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Overlapping toe, Hypospadias, Hearing impairment, Abnormality... |
ORPHA:363444 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Hearing imp... |
ORPHA:2345 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Tubulointerstitial nephri... |
OMIM:218330 |
Mosaic Trisomy 16 |
|
Single transverse palmar crease, Maternal diabetes, Atrial septal defect, Abnormality of the cerv... |
ORPHA:1708 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conductive hearing impair... |
OMIM:157800 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Dextrocardia, Supernumerary nipple, Posteriorly rotated ears, Cryptorchid... |
OMIM:618929 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... |
OMIM:214800 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Sparse eyelashes, Rocker bottom foot, Polyhydramnios, Tapered finger, P... |
OMIM:620070 |
Alg12-Cdg |
|
Proximal placement of thumb, Polyhydramnios, Edema, Abnormal peripheral nervous system morphology... |
ORPHA:79324 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Ectopic kidney, Hydro... |
ORPHA:268249 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Depres... |
OMIM:256520 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Microcornea, Clinodactyly of the 5... |
OMIM:201000 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Iris coloboma, Long hallux, Broad... |
ORPHA:2308 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... |
OMIM:611134 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint... |
ORPHA:1192 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Prominent nose, Delayed epiphyseal ossif... |
OMIM:210710 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... |
OMIM:253010 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Iris coloboma, Accessory splee... |
OMIM:249000 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,... |
ORPHA:959 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Joint stiffness... |
ORPHA:577 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, La... |
OMIM:300166 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Prominent nose, Wide nasal bridge, Perimembranous ventricular sept... |
OMIM:618205 |
Orofaciodigital Syndrome Xviii |
|
Short stature, Single transverse palmar crease, Sandal gap, Postaxial polydactyly, Preaxial polyd... |
OMIM:617927 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Scle... |
ORPHA:77298 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c... |
OMIM:618652 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Pedal edema, Abnormal sternum morphology, Abnormal verteb... |
ORPHA:284 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Frontal hirsutism, Cryptorchidism, Patent duct... |
ORPHA:3304 |
Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2322 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hyperthyroidism,... |
ORPHA:2008 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Microcornea, Atrial septal defect, S... |
OMIM:244450 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypoparathyroidism, Posterior embryotoxon, Inguinal hernia, Ventricu... |
OMIM:192430 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Pectus carinatum, Coarse hair, Thickened helices, Atrial septal defec... |
OMIM:617506 |
Noonan Syndrome 9 |
|
Curly hair, Hydroureter, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, S... |
OMIM:616559 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Short neck, Prominent nose, Synophrys, Pr... |
OMIM:612474 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturation, Methylmal... |
OMIM:614857 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular sept... |
OMIM:617602 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Conductive hearing impairment, Sensorineu... |
ORPHA:921 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ven... |
OMIM:613155 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Distal joint laxity, Ge... |
ORPHA:1900 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... |
OMIM:617478 |
Noonan Syndrome 10 |
|
Prominent corneal nerve fibers, Short neck, Pectus carinatum, Atrial septal defect, Sparse eyebro... |
OMIM:616564 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Coloboma, Vesicoureteral reflux, Broad hallux, Hypospadias, Tapered finger, Cryptorchidism, Short... |
OMIM:618659 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Glandular hypospadias, Nephro... |
OMIM:136140 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Absent thumb, S... |
OMIM:300514 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anterior hypopituitarism, Cent... |
ORPHA:280195 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Alg3-Cdg |
|
Osteopenia, Cataract, Abnormal pinna morphology, Abnormality of the nose, Abnormality of the endo... |
ORPHA:79321 |
Robinow Syndrome |
|
Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, High anterior hairline, Fused thor... |
ORPHA:97360 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Asplenia, Polyhydramnios, Hemivertebrae, Hydrops fet... |
ORPHA:99776 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Retinal dystrophy, Hepatic cysts, Macular atrophy, Glomerular subepith... |
OMIM:616307 |
Noonan Syndrome 2 |
|
Polyhydramnios, Short neck, Pectus carinatum, Abnormal sternum morphology, Atrial septal defect, ... |
OMIM:605275 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydacty... |
OMIM:615996 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnorma... |
ORPHA:96148 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Atr... |
ORPHA:769 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Premature delivery because of cerv... |
ORPHA:1662 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ... |
ORPHA:175 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Short neck, Synophrys, Pineal cyst, Vesico... |
ORPHA:529962 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Sparse hair, Broad ribs, Vertebral fusi... |
OMIM:139210 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Kabuki Syndrome 2 |
|
Protruding ear, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal defect, Jo... |
OMIM:300867 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Thickened helices, Advanced er... |
ORPHA:261494 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Atrial septal defect, Ventricular septal defect, Choanal... |
OMIM:300712 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Hypothyroidi... |
ORPHA:42775 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
ORPHA:94065 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxi... |
OMIM:618142 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Atrial septal defect, Prominent fingertip pads, Vesicoure... |
OMIM:610443 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A... |
ORPHA:93323 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Atrial septal defect, Micropeni... |
ORPHA:163979 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Premature ... |
OMIM:615873 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Redundant neck skin, Maternal diabetes, Short ... |
OMIM:300855 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Conductive hearing impairment, Central Y-shaped metacarpal, Hypothalamic hamartoma... |
OMIM:277170 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Redundant neck skin, Single transverse palmar crease, Polyhy... |
ORPHA:96334 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Redundant neck skin, Abnormal number of hair whorls, Mitral atresia, ... |
OMIM:618164 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of ... |
ORPHA:457395 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Short neck, Pectus carinatum, Clinodactyly of... |
OMIM:616145 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Dep... |
OMIM:614114 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Stiff... |
ORPHA:268882 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency... |
ORPHA:672 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Anteverted nares, Posteriorly rotated ears, Underdeveloped na... |
OMIM:611961 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atr... |
ORPHA:2044 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Prominent nose, Curly eyel... |
OMIM:301022 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Short neck, Coarse hair, Conductive hearing impairm... |
OMIM:130720 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Abnormally large globe... |
OMIM:249420 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Holoprosenceph... |
OMIM:270400 |
Meacham Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata... |
OMIM:608978 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Clinodactyly of t... |
ORPHA:1052 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Crypto... |
OMIM:615524 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv... |
OMIM:617425 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Short neck, Sparse eyebrow,... |
ORPHA:3338 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Overlapping fingers, Broad hallux, Overlapping toe, Short hallux, Triangular shape... |
OMIM:618167 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Hyperlordosis, Conductive hearing impairment, Sens... |
ORPHA:557003 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf... |
ORPHA:2332 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Underdeveloped superior crus of antihelix, Posteriorly rotated ears, M... |
ORPHA:369950 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Coloboma, Vertebral segm... |
ORPHA:251014 |
X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Generali... |
ORPHA:163956 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,... |
OMIM:173900 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Conductive hearing impairment, Vesicoureteral reflux, Cli... |
ORPHA:391641 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Patent fo... |
OMIM:620305 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d... |
ORPHA:2970 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Renal hypoplasia/aplasia, Crypt... |
ORPHA:2863 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Carcino... |
ORPHA:805 |
Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Depressed nasal ridge, Microcornea, U... |
ORPHA:564 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Cataract, Camptodactyly of finger, Short neck,... |
ORPHA:1617 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla... |
OMIM:160500 |
Down Syndrome |
|
Prenatal double bubble sign, Redundant neck skin, Single transverse palmar crease, Hypoplastic il... |
OMIM:190685 |
Diabetic Embryopathy |
|
Ureteral duplication, Abnormality of the neck, Vertebral segmentation defect, Micropenis, Abnorma... |
ORPHA:1926 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Coloboma, Vertebral segmentation defect, Atrial septal defect,... |
ORPHA:453499 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Inguinal hernia, Highly arched eyebro... |
ORPHA:96147 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, Atrial septal defect, Vesicourete... |
ORPHA:2745 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly |
OMIM:619170 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... |
OMIM:301068 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... |
OMIM:600001 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal de... |
OMIM:618354 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cataract, Optic nerve hy... |
ORPHA:370959 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Prominent nasal bridge, Postaxial polydactyly, Morning ... |
OMIM:614424 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, 2-3 toe ... |
ORPHA:1596 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve compression, Osteoly... |
ORPHA:52430 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Decreased fetal movement, Facial palsy, Polyhydramnios, Spinal rigidity, Hyperlordosis, Dilated c... |
OMIM:161800 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Patent foramen ovale, Hep... |
ORPHA:17 |
3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Short neck, Hemivertebrae, Abnormal tricuspid valve morp... |
ORPHA:7 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Polyhydramnios, Hypospadias, Abnormality of the thyro... |
ORPHA:1923 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Depressed nasal bridge, Abnormality of cartilage o... |
ORPHA:3426 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Decreased response to growth hor... |
OMIM:213980 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Greenberg Dysplasia |
|
Micromelia, Polyhydramnios, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mi... |
OMIM:215140 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodact... |
OMIM:614701 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen... |
OMIM:618280 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Knee flexi... |
OMIM:606242 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Choanal stenosis, Hepatoblas... |
ORPHA:798 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Elevate... |
OMIM:614300 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Joint st... |
ORPHA:40 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Low anterior ha... |
OMIM:618223 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Prominent nose, 2-3 toe ... |
OMIM:609625 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal a... |
ORPHA:244 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Renal hypoplasia/apl... |
ORPHA:1166 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Distal shortening... |
ORPHA:50945 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased fetal movement, Delayed closure of the anterior fontanel... |
OMIM:614886 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Abnormal aortic arch morphology, Nar... |
ORPHA:2059 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Myofibrillar Myopathy 11 |
|
Decreased fetal movement, Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctati... |
OMIM:619178 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hemivertebrae, Micropenis, Anteverted nares, Depressed nasal bridge, Hypospadias, Tapered finger,... |
OMIM:301040 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Otitis media, Atrial... |
ORPHA:353281 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Cryptorchidism, Muscular ventricular septal defect, Long nasal brid... |
OMIM:620071 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Abnormality of... |
ORPHA:93400 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Webbed neck, Chorioretinal coloboma, Clinodactyly ... |
OMIM:280000 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, Lymphedema, Dermatoglyphic ridges ... |
ORPHA:881 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Alagille Syndrome |
|
Corneal dystrophy, Long nose, Abnormal pupil morphology, Abnormal form of the vertebral bodies, P... |
ORPHA:52 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, A... |
OMIM:610125 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Abnormal renal mo... |
ORPHA:2209 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Wide nose, Skeletal muscle atrophy, Neurogenic bladder, Elevated circulating aspart... |
OMIM:608779 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Abnormal shoulder morphology, Microcornea, Long thorax, Chorioretin... |
ORPHA:568 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation |
ORPHA:293 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co... |
OMIM:150250 |
Isolated Polycystic Liver Disease |
|
Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cy... |
ORPHA:2924 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Coloboma, Macroglossia, Transpo... |
OMIM:616789 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Wide nose, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Decreased ... |
OMIM:616652 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Alopecia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Ab... |
OMIM:163200 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
Feingold Syndrome 1 |
|
Polyhydramnios, Asplenia, Accessory spleen, Anteverted nares, Short thumb, Short toe, Patent duct... |
OMIM:164280 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Pectus excavatum, Muscular... |
OMIM:619227 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... |
OMIM:255800 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... |
OMIM:614921 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Short neck, Low anterior hairline, Triphalangeal thumb, Atrial septal defe... |
ORPHA:124 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Narrow nasal bridge, Joint laxity, Ventricular septal defect, Left ventricular non... |
OMIM:300967 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Abnormal heart morphology, Coarctation of a... |
ORPHA:261183 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture... |
OMIM:300718 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial sep... |
ORPHA:567 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, Otit... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, Otit... |
ORPHA:353277 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Talipes equinov... |
OMIM:616171 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Hyperlordosis, Depressed nasa... |
OMIM:615761 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Hip disloca... |
OMIM:618651 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasa... |
ORPHA:79345 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... |
OMIM:115197 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Polyhydramnios, Fatty replacement of skeletal muscle, Flexion contractur... |
OMIM:256030 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Proximal placement of thumb, Prominent nose, Knee flexion contracture, A... |
ORPHA:435638 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cy... |
OMIM:613819 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Vesic... |
ORPHA:96169 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Congenital diaphragmatic hernia, Micromelia, Aplast... |
OMIM:616546 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Ventricular septal defect... |
OMIM:614815 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly |
OMIM:607539 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
King-Denborough Syndrome |
|
Decreased fetal movement, Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short ... |
OMIM:619542 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equ... |
ORPHA:250994 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Protruding e... |
ORPHA:899 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype... |
OMIM:608328 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... |
OMIM:188400 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Decreased fetal m... |
OMIM:600175 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Pectus carinatum, Finger joint hy... |
OMIM:212720 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fistula, Arachnodacty... |
ORPHA:261330 |
Chops Syndrome |
|
Synophrys, Coarse hair, Vesicoureteral reflux, Thickened helices, Patent foramen ovale, Anteverte... |
OMIM:616368 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Renal cyst, Coloboma, Clinodactyly of the 5th finger, Vesicoureteral reflux, Patent foramen ovale... |
OMIM:616975 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Congenital diaphr... |
OMIM:305600 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... |
ORPHA:66634 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-... |
ORPHA:1106 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Premature birth, Micromelia, Polyhydramnios, Fetal ascites, Accelerated s... |
OMIM:215045 |
Hypoglycemia, Leucine-Induced |
|
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Narrow chest, Triphalangeal t... |
OMIM:105650 |
Distal Triplication 15Q |
|
Corneal dystrophy, Flexion contracture, Abnormal sternum morphology, Atrial septal defect, Arachn... |
ORPHA:314588 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Metatarsus a... |
ORPHA:513456 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Occipital encephalocele, Antevert... |
OMIM:216360 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Abnormal cerebral vascular morphology, Increa... |
ORPHA:2616 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Diabetes insipidus, Epistaxis, Alopecia, Joint stiffness, Recu... |
ORPHA:397 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... |
ORPHA:324737 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Pedal edema, Perimembranous ... |
ORPHA:99095 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, ... |
ORPHA:582 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin... |
OMIM:300845 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigi... |
OMIM:255600 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni... |
OMIM:312150 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... |
OMIM:618000 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Single transverse palmar crease, Congenital sensorineural hearing impa... |
ORPHA:73272 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Protruding ear, Coloboma, Vertebral segmentation defect, Abnor... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Protruding ear, Coloboma, Vertebral segmentation defect, Abnor... |
ORPHA:352665 |
Lateral Meningocele Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Conductive hearing impairment, Iris coloboma, ... |
ORPHA:2789 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal finger morphol... |
ORPHA:2538 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Single transverse palmar crease, Muscular ventricular septal defect, Adducted ... |
OMIM:620062 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventri... |
ORPHA:93267 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postax... |
OMIM:617088 |
Esophageal Atresia |
|
Omphalocele, Ventricular septal defect, Choanal atresia, Maternal diabetes, Polyhydramnios, Renal... |
ORPHA:1199 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal eyelash morphology, Osteolysis, Coarctation of aorta, Abnorma... |
ORPHA:2396 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Synophrys, Microcornea, Joint contracture of the 5th... |
ORPHA:363611 |
Cohen Syndrome |
|
Thoracic scoliosis, Bone spicule pigmentation of the retina, Single transverse palmar crease, Bul... |
OMIM:216550 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Hypospadias, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodac... |
ORPHA:397590 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excava... |
OMIM:616817 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Short metatarsal, Micropenis, Hypoth... |
ORPHA:1772 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th... |
ORPHA:915 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Sandal gap, Prominent nasal bridge, Posteriorly rotated ears, Urinary incontinence, Small hand, P... |
OMIM:618885 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Posteriorly rotated ears, Spina bifida, Tapered finger, Broad nasal tip, Cyst of the... |
OMIM:619480 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... |
ORPHA:2614 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Coxa var... |
ORPHA:2962 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Dehydration, Long eyelashes, Polyhydramnios, Coarctation of aorta |
OMIM:616069 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Synophrys, Protruding ear, Atrial septal defect, Frontal hirsuti... |
OMIM:618950 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Amniotic constriction ring, Abnormality of the liver, Cutaneous ... |
ORPHA:2369 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:609053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl... |
OMIM:613156 |
Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joi... |
OMIM:252605 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Posteriorly ro... |
OMIM:619657 |
Proteus Syndrome |
|
Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Limbal dermoid, Lymp... |
OMIM:176920 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Part... |
OMIM:617926 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Abnormal pupil morpholog... |
ORPHA:261552 |
Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Short neck, Conductive hearing impairment, Atrial septal defect,... |
OMIM:244300 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencepha... |
OMIM:612284 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Choroidal neovascularization, Adrenal calcification, Poly... |
ORPHA:51608 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Sparse hair, Hepatomegaly,... |
OMIM:222470 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni... |
OMIM:253290 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar... |
OMIM:617260 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... |
ORPHA:485 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Enlarged joints, Single transverse palmar crease, Short metatarsal, Low anterior hairli... |
OMIM:601358 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, Sparse hair, S... |
OMIM:278250 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... |
OMIM:602484 |
Placental Insufficiency |
|
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, Ab... |
ORPHA:439167 |
Tarp Syndrome |
|
Single transverse palmar crease, Premature rupture of membranes, Atrial septal defect, Neonatal d... |
OMIM:311900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Polyhydramnios, Postaxial polydactyly, Prea... |
OMIM:615503 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217085 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Antev... |
OMIM:619980 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Conjunctivitis, Atrial sept... |
ORPHA:505248 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... |
ORPHA:261537 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Edema, Venous insufficiency, Patent ductus arteri... |
ORPHA:90308 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Decreased liver function, Hepatic... |
OMIM:600666 |
Proboscis Lateralis |
|
Anophthalmia, Single naris, Microcornea, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma... |
ORPHA:141099 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Pectus ... |
ORPHA:171881 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Hand muscle atrophy, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-... |
OMIM:600561 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebra... |
OMIM:109400 |
Williams Syndrome |
|
Osteopenia, Periorbital edema, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalci... |
ORPHA:904 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial poly... |
OMIM:616300 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... |
OMIM:617396 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Short neck, Polyhydramnios, Low anterior hairline, Coxa vara... |
ORPHA:800 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217093 |
Distal Duplication 14Q |
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Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract, Hea... |
ORPHA:1705 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Prominent veins on trunk, K... |
ORPHA:536532 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Genu varum, Joint laxity, Syndactyly, Lumbar hyperlordosis, Highl... |
OMIM:619451 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... |
ORPHA:2152 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
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Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e... |
ORPHA:3041 |
Noonan Syndrome 1 |
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Short neck, Lymphedema, Abnormal sternum morphology, Atrial septal defect, Hypospadias, Cryptorch... |
OMIM:163950 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Ventricular hypertrophy, Optic disc pallor, Sandal gap, Posteriorly rotated ears, Congenital diap... |
OMIM:300887 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Muscu... |
OMIM:615181 |
Nephronophthisis 13 |
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Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
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Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Premature birth, Delayed skeletal maturation, Abnormality of the elbow, Synoph... |
ORPHA:3268 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
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Distal lower limb amyotrophy, Decreased fetal movement, Congenital foot contraction deformities, ... |
ORPHA:363454 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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Low-set, posteriorly rotated ears, Cataract, Abnormal distal phalanx morphology of finger, Depres... |
ORPHA:1387 |
Lissencephaly 8 |
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Skeletal muscle atrophy, Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainst... |
OMIM:617255 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Upper limb mus... |
ORPHA:1435 |
Greig Cephalopolysyndactyly Syndrome |
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Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Myopathic Ehlers-Danlos Syndrome |
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Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Anophthalmia Plus Syndrome |
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Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo... |
ORPHA:1104 |
Restrictive Dermopathy 1 |
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Spontaneous chorioamniotic separation, Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, ... |
OMIM:275210 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
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Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a... |
OMIM:611067 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Tortuosity of conjunct... |
OMIM:230000 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Sacral dimple, Bicuspid aortic valve, Simple ear, Bilateral microphthalmos, Hemivertebrae, Unilat... |
OMIM:619318 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Abnorm... |
ORPHA:1445 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Atrial septal defec... |
ORPHA:3469 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Sacral dimple, Dilation of Virchow-Robin spaces... |
ORPHA:261311 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... |
ORPHA:65759 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Clinodact... |
ORPHA:464306 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Ventricular septal defect, Cyclopia, Optic nerve hypoplasia, Alobar holopr... |
OMIM:301043 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Synophrys, Atrial septal defect, Short metacarpal, Highly arched... |
OMIM:617190 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Anophthalmia, Camptodactyly of finger, Corneal dystrophy, Hypoplasia of the musc... |
ORPHA:1101 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Edema, Hiatus hernia, Pectus excavatum,... |
OMIM:617729 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Thrombocytopenia-Absent Radius Syndrome |
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Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu varum, Low-set,... |
ORPHA:3320 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Uraciluria, Optic atrophy |
OMIM:274270 |
Orofaciodigital Syndrome Type 10 |
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Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Joubert Syndrome With Ocular Defect |
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Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Dextrocardia, Prominent nasal... |
ORPHA:220493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Low anterior hairline, Coloboma, Mu... |
OMIM:613153 |
Cofs Syndrome |
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Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Art... |
ORPHA:1466 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Hyperlordosis, Posteriorly ro... |
OMIM:617450 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Cataract, Depressed nasal bridge, Ectopia lentis... |
OMIM:277600 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... |
ORPHA:169186 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... |
ORPHA:580 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r... |
OMIM:314390 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Metaphyseal chondrodysplasia, Renal cyst, Broad columella, Retinal degeneration, Absent eyebrow, ... |
ORPHA:166035 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Dilated cardiomyopathy, Elb... |
ORPHA:206546 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc... |
OMIM:617925 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Increased ... |
OMIM:606812 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal placental membrane morphology, Polyhydramnios, Hemivertebrae, Abnor... |
ORPHA:79500 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Kyp... |
ORPHA:3085 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Thoracic hypoplasia, Kyphoscoliosis, Hyperlordosis, Coxa valga,... |
OMIM:618363 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, Abnormality of the liver, Triphalangeal ... |
ORPHA:84 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Short stature, Central Y-shaped ... |
ORPHA:2754 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ectopic kidney, Hemivertebrae, Anotia, Conductive hearing ... |
OMIM:164210 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Retinal dystrophy, Anophthalmia, Proximal placement of thumb, Sclero... |
ORPHA:139471 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibi... |
ORPHA:1427 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Cryptorchidism, Orbital encep... |
OMIM:164180 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... |
ORPHA:324416 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Polyhydramnios, Edema, Secundum atrial septal defect, ... |
OMIM:619534 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Protruding ear, Atrial septal... |
OMIM:147920 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Postaxial ... |
OMIM:614576 |
Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, A... |
ORPHA:252164 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Anteverted nares, Promi... |
OMIM:612946 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ... |
OMIM:120400 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Spina bifida occulta, Prominent antitragus, Posterolateral diaph... |
ORPHA:2437 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... |
OMIM:305620 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, Co... |
OMIM:208150 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Premature birth, Hypospadias, Short neck, Abnor... |
ORPHA:2487 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal... |
ORPHA:2511 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Low anterior hairline, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger,... |
OMIM:220500 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydr... |
ORPHA:1666 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Atrial septal defect, Joint laxity, Depressed nasal bridge, Tapered finger, Paten... |
OMIM:300968 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Molar tooth s... |
OMIM:614120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De... |
OMIM:616007 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus, Muscular dystrophy |
OMIM:614830 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Atrial septal defect, Clinodactyly of the 5th finger, Ocular anterior segment dysgene... |
OMIM:612582 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split h... |
OMIM:618569 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Flexion contracture, Atrial septal defect, Frontal hirsutism, Hepatomegaly, Antev... |
OMIM:608149 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, At... |
OMIM:194190 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Sclerocornea, Congenital diaphragma... |
ORPHA:818 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Prominent ear helix, Bul... |
ORPHA:411986 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Synophrys... |
ORPHA:536545 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Short neck, Underdeveloped nasal alae, Joint stiffness... |
ORPHA:2516 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Posteri... |
OMIM:613870 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Synophrys, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th finger, Mic... |
ORPHA:96092 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Hearing impairment, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment... |
OMIM:610023 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ... |
OMIM:256050 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, Clinodactyly of the 5t... |
ORPHA:251028 |
Renpenning Syndrome 1 |
|
Brittle hair, Protruding ear, Coloboma, Atrial septal defect, Clinodactyly of the 5th finger, Spa... |
OMIM:309500 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ... |
OMIM:618999 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Neonat... |
ORPHA:1667 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, Atrial septal de... |
OMIM:268300 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl... |
OMIM:268310 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas... |
ORPHA:2092 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ab... |
OMIM:603387 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Abno... |
ORPHA:1035 |
Wieacker-Wolff Syndrome |
|
Decreased fetal movement, Anteverted nares, Facial palsy, Proximal placement of thumb, Hyperlordo... |
OMIM:314580 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Short neck, Knee flexion contracture, Pectus carinatum, Atrial... |
OMIM:121050 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Enlarged thorax, Atriov... |
ORPHA:251071 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Low-set ears, Abnorma... |
ORPHA:1919 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... |
OMIM:156530 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus... |
ORPHA:1507 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... |
ORPHA:163966 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Multiple mucosal neuromas, Bowing of the legs, Abnormal internal carotid artery morph... |
ORPHA:97685 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Anomalous origin of l... |
ORPHA:2326 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
Three M Syndrome 1 |
|
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... |
OMIM:273750 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Redundant neck skin, Genu recurvatum, Abnormal curvature of the vertebral column, Pro... |
ORPHA:90348 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... |
OMIM:208530 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Perlman Syndrome |
|
Nephrogenic rest, Depressed nasal bridge, Renal hamartoma, Congenital diaphragmatic hernia, Polyh... |
OMIM:267000 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Depressed nasal bridg... |
ORPHA:1830 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hypospadias, Synophrys, Overfolded helix, Tran... |
ORPHA:1913 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Absent pulmonar... |
OMIM:600460 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Edema, Lymphedema, Protruding ear, Abnormal optic nerve mo... |
ORPHA:2526 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... |
OMIM:609223 |
Gorlin Syndrome |
|
Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorch... |
ORPHA:377 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Retinal dystrophy, Kyphosis, Sensorineural hearing impairment, Hip dislocat... |
OMIM:616756 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... |
OMIM:161200 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Tarp Syndrome |
|
Single transverse palmar crease, Atrial septal defect, Small earlobe, Low-set, posteriorly rotate... |
ORPHA:2886 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Cutaneous finger syndactyly, Choan... |
OMIM:219000 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... |
ORPHA:435387 |
Hartsfield Syndrome |
|
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthal... |
ORPHA:2117 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Myopathy, Centronuclear, 2 |
|
Decreased fetal movement, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skel... |
OMIM:255200 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Hallermann-Streiff Syndrome |
|
Metaphyseal widening, Chorioretinal coloboma, Sparse hair, Iris coloboma, Spina bifida, Hyperlord... |
OMIM:234100 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Polyhydramnios, Increased intervertebral space, Thoracolumbar kyphosis, L... |
ORPHA:508533 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Generalized joint laxity, Pectus... |
OMIM:619472 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Large... |
OMIM:602501 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Scapular winging, Acute pancreatitis, Depressed nasa... |
ORPHA:26791 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Prominent nasolabia... |
OMIM:618524 |
Microphthalmia, Isolated 4 |
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Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
8P23.1 Duplication Syndrome |
|
Wide nose, Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Adrenal insufficienc... |
ORPHA:251076 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... |
OMIM:173800 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Short stature |
OMIM:210350 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligo... |
OMIM:601357 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb und... |
ORPHA:2310 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic steno... |
OMIM:611376 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Decreased fetal movement, Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Limb jo... |
OMIM:255310 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Synophrys, Atrioventricular canal defect, Prominent metopic ridge, Anteverted nares, Depressed na... |
OMIM:613792 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ... |
OMIM:609308 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Polyhydramnios, Abnormality of the ureter, Low posterior hairline, Deviation of... |
ORPHA:1450 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Promin... |
ORPHA:3068 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Vitreous floaters, Broad clavicles, W... |
OMIM:619698 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... |
OMIM:615156 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... |
OMIM:601803 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Po... |
OMIM:615993 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98855 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hy... |
OMIM:614846 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Short neck, Cardiomegaly, Multiple prenatal fractures, Beaded ribs, F... |
OMIM:616897 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ... |
OMIM:300863 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Anoph... |
ORPHA:90321 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Short neck, Congenital contracture, Abnormal sternum morphology, Micropeni... |
OMIM:248700 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Decreased size of nerve terminals, Type 2 muscle fiber atro... |
OMIM:603034 |
Monosomy 18Q |
|
Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal defect, Bilateral cryptor... |
ORPHA:1600 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... |
ORPHA:3266 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hydrocephalus, Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal muscle, Bree... |
OMIM:610687 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Camptodactyly of finger, Dislocated radial head, Rocker bottom foot, Bilateral mic... |
OMIM:610758 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98853 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Renal malrotation, Inguinal hernia, Ventricular septal defect, Bowing of the leg... |
OMIM:617107 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Short neck, Cardiomegaly, Fetal akinesia sequence, Hydrops fetali... |
OMIM:617022 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Brachydactyly, Short stature, Metaphyseal spurs, Postaxial polydactyly, M... |
OMIM:613091 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Kyphosis, Cryp... |
ORPHA:90322 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... |
OMIM:619042 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:615771 |
Codas Syndrome |
|
Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Anteverted n... |
ORPHA:1458 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Postax... |
OMIM:619185 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Single transverse palmar crease, Biliary hyperplasia, Coarse hair, Choanal stenosis, Micropenis, ... |
ORPHA:83617 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Arteria lusoria, Protruding ear, Anteverted nares, Depressed nasal bridge, Hyperlordo... |
ORPHA:221139 |
Typical Nemaline Myopathy |
|
Polyhydramnios, Short neck, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type ... |
ORPHA:171436 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Conduct... |
ORPHA:90646 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Growth delay, Postaxial polydactyly, Cerebellar vermis hypoplasia |
OMIM:300804 |
Ck Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Hyperlordosis, Kyphosis, Scoliosis, Abnormal di... |
OMIM:300831 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:618624 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... |
ORPHA:254534 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Renal cys... |
OMIM:113620 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Cataract, Rhizomelia, Anteverted nares, Depressed nas... |
OMIM:222765 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, V... |
ORPHA:500095 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Bowing of the legs, Short neck, Edema, Thoracic dysplasia, Narrow chest, Holopros... |
OMIM:269860 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Atrial septal defect, Ventricular septal de... |
ORPHA:401935 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Saethre-Chotzen Syndrome |
|
Low anterior hairline, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hea... |
ORPHA:794 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Hydrocephalus, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa... |
ORPHA:439 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... |
ORPHA:2522 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Posteriorly ro... |
OMIM:619343 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen... |
OMIM:214300 |
Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, P... |
OMIM:601808 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop... |
ORPHA:233 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal cyst, Bilateral superior vena cava with no bridging vein, Vesicourete... |
OMIM:618460 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... |
OMIM:617137 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydac... |
OMIM:614175 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature, 2-3 toe syndactyly... |
OMIM:610313 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Retinal dystrophy, Renal cyst, Hypogonadism, Polydactyly, Rod-cone dystrophy |
OMIM:615987 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... |
ORPHA:93473 |
Trisomy 20P |
|
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Protruding ear, Reduced... |
ORPHA:261318 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis |
ORPHA:408 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Narrow chest, Atrial septal... |
OMIM:613610 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Optic atrophy, Coloboma, Low-set... |
OMIM:612379 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ventricular septal defect, Recu... |
ORPHA:2772 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Prominent nasal... |
OMIM:617796 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Myopat... |
OMIM:243605 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Persistent open anterior fontanelle, Decreased response to growth h... |
ORPHA:763 |
Acrocallosal Syndrome |
|
Coloboma, Clinodactyly of the 5th finger, Micropenis, Hypopigmentation of the fundus, Finger synd... |
OMIM:200990 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Hemivertebrae, Abnormal form of the vertebral ... |
ORPHA:3412 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... |
ORPHA:86812 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Hearing impairment, Pectus excavatum, Vascular ring, Coarctation of aorta, Clinod... |
OMIM:616954 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Low poster... |
ORPHA:1803 |
Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Premature birt... |
ORPHA:974 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip... |
OMIM:601927 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Cataract, Camptodactyly o... |
ORPHA:391474 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polyd... |
OMIM:605627 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hand muscle weakness, Chronic pan... |
ORPHA:98908 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Atrial septal defect, Curly hair, Arachnodactyly, Hyperlordosis, Underdeveloped nas... |
OMIM:300986 |
Renal Tubular Dysgenesis |
|
Premature birth, Bilateral single transverse palmar creases, Polyhydramnios, Renotubular dysgenes... |
ORPHA:3033 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Tracheobronchomalacia, Synophrys, Low anterior hairline,... |
OMIM:613458 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Seckel Syndrome 2 |
|
Short stature, Heart murmur, Growth delay, Cerebellar hypoplasia, Clinodactyly of the 5th finger,... |
OMIM:606744 |
Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory ... |
ORPHA:91412 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Microcornea, Pointed helix, Holoprosencephaly, Atrial septal def... |
ORPHA:3380 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Skeletal muscle atrophy, Cataract, Spinal rigidity, Hydrocepha... |
OMIM:253800 |
Bardet-Biedl Syndrome 17 |
|
Short fourth metatarsal, Bone spicule pigmentation of the retina, Renal cyst, Micropenis, Retinal... |
OMIM:615994 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Cataract, Depressed nasal bridge, Dextrocardia, Ecto... |
ORPHA:1571 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi... |
OMIM:203500 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Situs inversus totalis,... |
OMIM:609008 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased fetal movement, Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness... |
ORPHA:352470 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Cardiomegaly, Synophrys, Coloboma, Congenital contracture, Low-set, posteriorl... |
ORPHA:97297 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... |
OMIM:607088 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Ascites, Polycystic liver disease, Renal cyst |
OMIM:174050 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an... |
OMIM:619910 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ... |
OMIM:614294 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Abno... |
ORPHA:75389 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Decreased fetal movement, Spinal rigidity, Hyperlordosis, Flexion contra... |
ORPHA:157973 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... |
OMIM:251230 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Pectus carinatum, Microcornea, Male urethral meatus stenosis, At... |
ORPHA:464738 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Congenital fibrosis of extraocular muscles, ... |
OMIM:157900 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thor... |
ORPHA:1797 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Short neck, Prominent nose, Promine... |
OMIM:305450 |
Turnpenny-Fry Syndrome |
|
Polyhydramnios, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Co... |
OMIM:618371 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Posteriorly rotated ears, Short neck, Patent duct... |
ORPHA:2328 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears |
OMIM:618295 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Microvesicular hepatic steatosis, Aortic valve atresia, Low anterior hairl... |
OMIM:220111 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Microphthalmia |
ORPHA:1528 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist ... |
ORPHA:254528 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Abnormal card... |
ORPHA:2306 |
Skraban-Deardorff Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Right aortic arch, Recurrent... |
OMIM:617616 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Neonatal omphalitis, Pectus carin... |
OMIM:612541 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Hearing impairment, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hy... |
OMIM:617577 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Microcornea, Narrow chest, ... |
OMIM:309800 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Hyperlordosis, Right ventricular dilatatio... |
ORPHA:369840 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm... |
ORPHA:95494 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Abnormal curvature ... |
OMIM:619475 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri... |
ORPHA:365 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Von Willebrand Disease |
|
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Pectus carina... |
ORPHA:93315 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Congenital diaphragmatic hernia, Epispadias,... |
ORPHA:2556 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cataract, Camptodacty... |
ORPHA:2635 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Protruding ear, Coloboma, Radioulnar synostosis, Macrotia, Hearing impairment |
OMIM:302905 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Cat Eye Syndrome |
|
Biliary atresia, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal defect, Iris colobo... |
OMIM:115470 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios... |
OMIM:612562 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Short neck, Abnormality of the endocrine system, Crypt... |
ORPHA:464288 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Ventricular septal defect, Cerebellar hypoplasia |
OMIM:613730 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... |
OMIM:617992 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Single transverse palmar crease, Adrenal hypoplasia, Aminoaciduria, Ulnar de... |
OMIM:214100 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Anteverted nares, Aplasia/hypoplasia invol... |
ORPHA:40366 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Anteverted nares, Postaxial polydactyly, Depressed nasal bridge, Abnor... |
ORPHA:404440 |
Polydactyly, Postaxial, Type A8 |
|
Short stature, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... |
OMIM:253220 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ... |
ORPHA:3098 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Mu... |
ORPHA:66637 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Edema, Facial edema, Lymphedema, Periorbital edema, Atrial septal defect, Hypothy... |
OMIM:616843 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal maturation, Renal cyst, Pec... |
OMIM:312870 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Low ... |
OMIM:614976 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Abnormal form of the vert... |
ORPHA:1834 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Spinal rigidit... |
ORPHA:268 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Short ne... |
OMIM:244600 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short neck, Abnormal pinna mo... |
ORPHA:52055 |
Orofaciodigital Syndrome V |
|
Sandal gap, Ventricular septal defect, Postaxial polydactyly, Aganglionic megacolon, Unilateral c... |
OMIM:174300 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Prominent nose, Synophrys, Bilateral renal hypoplasia, Low anterior h... |
OMIM:619488 |
Pierpont Syndrome |
|
Short stature, Short toe, Broad palm, Short foot, Deep palmar crease, Chiari malformation, Short ... |
OMIM:602342 |
Ck Syndrome |
|
Long toe, Lumbar hyperlordosis, Posteriorly rotated ears, Prominent nasal bridge, Kyphoscoliosis,... |
ORPHA:251383 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Short palm, Clinodactyly of the ... |
ORPHA:264200 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Abnormality of the ear, Neural tube defect, Abnormality of the vertebral column, Mi... |
OMIM:600776 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal... |
ORPHA:581 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Short neck, Polyhydramnios, Bicuspid pulmonary valve, Webbed ne... |
ORPHA:709 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder |
OMIM:620211 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Wide na... |
OMIM:618067 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... |
OMIM:616852 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o... |
OMIM:619636 |
Cantú Syndrome |
|
Short neck, Cardiomegaly, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, B... |
ORPHA:1517 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Glue ear, Short neck, Biliary atresia, Clinodactyly of the 5th finge... |
ORPHA:3310 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Short palm, Conductive hearing impairment, Clinodact... |
ORPHA:1001 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
Hamamy Syndrome |
|
Osteopenia, Atrial septal defect, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of... |
OMIM:611174 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthro... |
ORPHA:2848 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Premature birth, Abnormality of the pancreas, Jaundice, Abnormal p... |
ORPHA:69665 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Patent ductus arteriosus, ... |
OMIM:619869 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Premature birth, Micromelia, Polyhydramnios, Cry... |
ORPHA:2189 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Bulbous nose, Flexion contracture... |
OMIM:616549 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Oligohydramnios |
OMIM:615397 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str... |
ORPHA:93357 |
Recombinant 8 Syndrome |
|
Abnormality of the neck, Abnormal sternum morphology, Atrial septal defect, Clinodactyly of the 5... |
ORPHA:96167 |
Familial Multiple Nevi Flammei |
|
Edema, Venous insufficiency, Intracranial hemorrhage, Abnormality of the upper limb, Arteriovenou... |
ORPHA:624 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Anteverted nares, Thoracolumbar scoliosis, Prominent nasal bridge, Hyperlordosis, K... |
OMIM:618443 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dry hair, Flexion contracture, Microcornea, Premature graying of hair, L... |
ORPHA:90324 |
Aicardi Syndrome |
|
Proximal placement of thumb, Chorioretinal lacunae, Hemivertebrae, Hepatoblastoma, Dilated third ... |
OMIM:304050 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro... |
OMIM:208500 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Accelerated ... |
ORPHA:116 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Conductive hearing impairment, ... |
ORPHA:444077 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Bilateral single transverse palmar ... |
ORPHA:1770 |
Renpenning Syndrome |
|
Decreased testicular size, Skeletal muscle atrophy, Alopecia, Cataract, Diabetes mellitus, Hyposp... |
ORPHA:3242 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Low-set ears, Chronic otitis ... |
ORPHA:276422 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosi... |
OMIM:607095 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Symphalangism affecting the phal... |
ORPHA:2990 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Aqueduc... |
OMIM:154400 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior... |
ORPHA:3456 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Atrial septal defect, Prominent metopic ridge, Arachnodactyly, Bicuspid aortic valv... |
OMIM:619721 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Osteoarthritis, Short metatarsal, Protruding ear, Pectus carinatum, Cone-shaped epiph... |
OMIM:190350 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Growth delay, Neonatal death, ... |
ORPHA:85284 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Overriding aorta, Prominent nasal bridge, Abnormal aortic arch... |
ORPHA:1110 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Abnormal rib morphology, Conductive hea... |
ORPHA:1513 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Micro... |
ORPHA:268261 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Three M Syndrome 2 |
|
Prominent nasal tip, Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Anteverte... |
OMIM:612921 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... |
ORPHA:90650 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Vertebral segmentation defect, Atrial septal defect, Vesi... |
OMIM:617063 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... |
ORPHA:1329 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Hypoplasia of penis, Adrenal hypoplasia, Cryp... |
ORPHA:95496 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Unilateral renal agenesis, Broad na... |
ORPHA:3306 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Aplasia of the nose, Holoprosence... |
ORPHA:3186 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary coll... |
OMIM:620025 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Depressed nasal bridge, Kyphosis, Upper lim... |
OMIM:169400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Proximal femoral metaphyseal irregularity, Subretin... |
ORPHA:397715 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... |
ORPHA:353 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... |
OMIM:147250 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Limited hip extensi... |
OMIM:617114 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Hypoplastic iliac win... |
OMIM:235510 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Semilobar ... |
OMIM:245552 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot... |
ORPHA:970 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sclerocornea, Congenital diaphragmatic hernia, Abnormal form of the vert... |
ORPHA:280 |
Familial Anetoderma |
|
Generalized joint laxity, Abnormal tibia morphology, Lumbar hyperlordosis |
ORPHA:228277 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Coarctation of aorta... |
OMIM:618748 |
C Syndrome |
|
Micromelia, Dislocated radial head, Hepatomegaly, Short metacarpal, Anteverted nares, Cryptorchid... |
OMIM:211750 |
Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Accelerated skeletal maturation, Cardiac fibroma, Abnormal rib morpholog... |
ORPHA:77301 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum... |
OMIM:208050 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Microphthalmia, Intrauterine growth... |
ORPHA:48431 |
German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Short neck, Lymphed... |
ORPHA:2077 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger... |
ORPHA:1703 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Bone pain, Low anterior hairline, Pectus carinatum, Coarse hai... |
ORPHA:955 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... |
ORPHA:1335 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Single transverse palmar crease, Increased vertebral height, Hypothyroidism, Hashimoto thyroiditi... |
OMIM:613385 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital... |
ORPHA:887 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Joint laxity, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb ... |
ORPHA:353327 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal d... |
ORPHA:857 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Lymphe... |
OMIM:153400 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p... |
ORPHA:1488 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Choanal atresia, Sh... |
OMIM:300472 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Short neck, Joint... |
OMIM:230500 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Condu... |
OMIM:182212 |
Achondroplasia |
|
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... |
OMIM:100800 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Hypoplasia of penis, Depressed nasal bridge, Retinal dystrophy, Hypogonadotropic h... |
ORPHA:251066 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Protruding ear, Atrial septal defect, Absent gallbladder, Lumbar hyperlordosis, Ar... |
ORPHA:500150 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Leopard Syndrome 3 |
|
Curly hair, Depressed nasal bridge, Posteriorly rotated ears, Short neck, Sensorineural hearing i... |
OMIM:613707 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos... |
OMIM:600775 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... |
OMIM:253700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Coloboma, Congenital contracture, Retinal dysplasia, Megalocornea, Retin... |
OMIM:236670 |
Pierpont Syndrome |
|
Short toe, Deep palmar crease, Chiari malformation, Short finger, Prominent fingertip pads, Micro... |
ORPHA:487825 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Sensorineural hearing impairment, Flexion contracture, Hydrocep... |
OMIM:615249 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon... |
OMIM:108720 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Molar too... |
OMIM:617757 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abn... |
ORPHA:2461 |
Noonan Syndrome 4 |
|
Ureteral duplication, Polyhydramnios, Short neck, Abnormal sternum morphology, Thickened helices,... |
OMIM:610733 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Conductiv... |
OMIM:300373 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone p... |
ORPHA:666 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e... |
ORPHA:1908 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Lon... |
OMIM:619995 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Alopecia, Sparse ey... |
OMIM:614008 |
Tick-Borne Encephalitis |
|
Back pain, Elevated hepatic transaminase, Skeletal muscle atrophy, Stiff neck, Facial palsy, Hear... |
ORPHA:297 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Sparse eyelashes, Sparse ey... |
ORPHA:66625 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Short neck, Elbow dis... |
OMIM:264180 |
Smith-Magenis Syndrome |
|
Synophrys, Abnormal form of the vertebral bodies, Microcornea, Conductive hearing impairment, Cli... |
ORPHA:819 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Prominent nose, Atrial septal defect, Low-set, posteriorl... |
ORPHA:480880 |
Primary Pulmonary Hypoplasia |
|
Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect... |
ORPHA:2257 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu ... |
ORPHA:1381 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Abnorma... |
ORPHA:628 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyl... |
OMIM:603671 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Oligohydramnios, Retrocerebellar cyst, Absent dis... |
OMIM:614219 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer... |
OMIM:605376 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Cataract, Anteverted nares, ... |
ORPHA:2969 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal mu... |
OMIM:617760 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Abnormal clavicle morphology, Congenita... |
ORPHA:991 |
Glossopharyngeal Neuralgia |
|
Ear pain, Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abno... |
ORPHA:221098 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Absent t... |
ORPHA:96097 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Clinodactyly of the 5th finger, Pelvic kidney, A... |
OMIM:247200 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis |
OMIM:617054 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Broad nasal ti... |
ORPHA:370010 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th fin... |
ORPHA:1439 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Coxa vara, Sprengel anomaly, Vertebral segmentation defect, Aplasia/Hypoplasia... |
ORPHA:1988 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Alagille Syndrome 2 |
|
Posterior embryotoxon, Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Cholestasis... |
OMIM:610205 |
Ververi-Brady Syndrome |
|
Wide nose, Prominent nose, Broad nasal tip, Bulbous nose, Cupped ear, Delayed skeletal maturation... |
OMIM:617982 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia |
ORPHA:848 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Abn... |
ORPHA:2831 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Renal cyst, Protruding ear, Micropenis, Pelvic kidney, Abnormality of the cervica... |
ORPHA:464311 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Hearing impairment, Abnormal... |
ORPHA:1724 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Spinal rigidity, Hyperlordosis, Splenome... |
OMIM:613327 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Abnormality of the upp... |
ORPHA:2547 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria, Edema, Myo... |
ORPHA:2331 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valg... |
ORPHA:254519 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Preaxial hand ... |
OMIM:236680 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Renal cyst, Conductive hearing impairment, Iris coloboma, Disl... |
OMIM:102500 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... |
OMIM:209900 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the endocrine system, Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell aden... |
ORPHA:97289 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... |
OMIM:300232 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Coarse hair, Narrow... |
ORPHA:198 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Depressed nasal bridge, Broad hallux, Accelerated skeletal maturation, Shor... |
OMIM:165800 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Aminoaciduria, Hypoplasia of the thymus, Intrahepatic biliary dy... |
OMIM:214110 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Rocker bottom foot, Coxa valga, Flexion contracture, Elbow flexion contractur... |
OMIM:214150 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Short neck, K... |
OMIM:114300 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Short stature, Cerebellar hypoplasia, Microphthalmia |
OMIM:600118 |
Trisomy 4P |
|
Preaxial hand polydactyly, Radial club hand, Short stature, Camptodactyly of finger |
ORPHA:1738 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Synost... |
ORPHA:289 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Mac... |
OMIM:608836 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Cataract, Diabetes mellitus, Diabetes insipidus, Hydroureter, Sensorineural h... |
OMIM:222300 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Choanal atresia, Hearing impairment, Pectus excavatum, Flexion contr... |
ORPHA:98889 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Bicuspid aortic valve, Single transverse palmar crease, Proximal placeme... |
OMIM:618619 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Vesicoureteral reflux, Prominent m... |
OMIM:616580 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Toe syndactyly, Abnormal clavicle morph... |
ORPHA:474 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Atrial septal defect, Cl... |
OMIM:607872 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Congenital diaphragmati... |
ORPHA:1780 |
Cartilage-Hair Hypoplasia |
|
Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho... |
OMIM:250250 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Torticollis, Flat cornea, Arachnodactyly, Protrusio acetabuli, Bicuspid aortic valv... |
OMIM:614816 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Kne... |
OMIM:619656 |
Three M Syndrome 3 |
|
Prominent nasal tip, Anteverted nares, Hyperlordosis, Short neck, Increased vertebral height, Sho... |
OMIM:614205 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, M... |
ORPHA:280200 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Increased axial length of the globe,... |
ORPHA:558 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Prominent nasal bridge, Short neck,... |
ORPHA:3409 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands |
ORPHA:85287 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee... |
OMIM:601559 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Sensorineural hearing impairm... |
OMIM:615636 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Short neck, Edema, Hemivertebrae, Sparse hair, Rhizomelia, Sparse eyebrow, Abnorm... |
OMIM:302960 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cataract, Aplasia/Hypoplasia involving the nose, Septo-optic dyspl... |
ORPHA:3301 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Co... |
ORPHA:261197 |
3Mc Syndrome |
|
Abnormal pinna morphology, Diastasis recti, Supernumerary nipple, Hyperlordosis, Abnormal nasal m... |
ORPHA:293843 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Short neck, Proximal placement of thumb, Congenital ... |
OMIM:122470 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Joint laxity, Recurrent urinary tract infections, Toe syndactyly, Lumbar hyperlordosis... |
OMIM:619234 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Spastic/hypera... |
ORPHA:100991 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short neck, Pectus carinatum, Conductive hearing impairment, Clinodactyly of... |
ORPHA:3082 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, A... |
OMIM:192350 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Choanal atresia, Facial palsy, Absent eyelashes, Preaxial hand polydact... |
ORPHA:2316 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Rhizomelia, Anophthalmia, Sclerocornea, Hypospadias, Precocious puberty, 2-3 toe syndac... |
OMIM:615877 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micromelia, Postaxial... |
OMIM:617895 |
Leopard Syndrome 1 |
|
Limited elbow movement, Short neck, Depressed nasal ridge, Protruding ear, Pectus carinatum, Apla... |
OMIM:151100 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Abnormality of the kidney, Unilateral ... |
OMIM:118100 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Abnormal retinal morphology, Lymphedema, Venous insufficiency, Abnor... |
ORPHA:33276 |
Parkes Weber Syndrome |
|
Back pain, Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Hypertrop... |
ORPHA:90307 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Abnormality of the... |
ORPHA:2916 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Highly arched eyebrow, Short neck, Coloboma, Webbed neck, Microphthalm... |
OMIM:614583 |
Melnick-Needles Syndrome |
|
Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-s... |
ORPHA:2484 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Papilledema, Corneal... |
ORPHA:2072 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Asplenia, Patchy reduction of bone miner... |
ORPHA:221120 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinoda... |
OMIM:617352 |
Jacobsen Syndrome |
|
Short neck, Flexion contracture, Microcornea, Holoprosencephaly, Chorioretinal coloboma, Atrial s... |
OMIM:147791 |
Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... |
OMIM:611560 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K... |
OMIM:615777 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Kbg Syndrome |
|
Single transverse palmar crease, Short neck, Epispadias, Synophrys, Low anterior hairline, Protru... |
OMIM:148050 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Abnormal pinna morphol... |
ORPHA:1297 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl... |
ORPHA:210122 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Delayed skeletal matu... |
ORPHA:2475 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Single transverse palmar crease, Short neck, Renal cyst, Choanal stenosis, C... |
OMIM:236500 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Camptodactyly of finger, Missing ribs, Meningocele, Abnormal tricuspi... |
ORPHA:1759 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Abnormal eyelash ... |
ORPHA:2399 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Ta... |
OMIM:301066 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Depressed nasal ridge, G... |
OMIM:600462 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, Rod... |
OMIM:615982 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Nar... |
OMIM:618188 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of... |
ORPHA:77258 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Prominent nasal bridge, Abnormal pinna morphology, H... |
ORPHA:313781 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint ... |
ORPHA:583 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Aplasia/hypoplasia involving ... |
ORPHA:75508 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Anteverted nares, Cyclopia, Proboscis, Alobar holoprosencephaly, Aqued... |
OMIM:619895 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... |
ORPHA:2473 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Synophrys, Atrial septal defect, Conductive hearing impairment, Clin... |
OMIM:257920 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... |
ORPHA:156728 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... |
OMIM:615222 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... |
ORPHA:2519 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Joint hypermobility, Narrow nasal ridge, Underdeveloped nasal alae, Long finge... |
OMIM:618343 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Hypoplasia of the cochlea, Optic disc... |
OMIM:613398 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the... |
OMIM:215150 |
Arterial Tortuosity Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Hiatus hernia, Pulmonary ... |
ORPHA:3342 |
Okamoto Syndrome |
|
Facial hypertrichosis, Redundant neck skin, Urinary incontinence, Abnormally large globe, Primum ... |
ORPHA:2729 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Hemivertebrae, Sprengel anoma... |
OMIM:134780 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Ede... |
ORPHA:2315 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol... |
ORPHA:91387 |
Aicardi Syndrome |
|
Protruding ear, Chorioretinal coloboma, Hepatoblastoma, Hiatus hernia, Precocious puberty, Optic ... |
ORPHA:50 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Coloboma, Portal fibro... |
OMIM:619111 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Widow's peak, Cupped ear, Wide nasal bridge, Coloboma, Lo... |
OMIM:167730 |
Fetal Encasement Syndrome |
|
Omphalocele, Decreased fetal movement, Congenital diaphragmatic hernia, Upper limb undergrowth, H... |
OMIM:613630 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Diastasis recti, Postnatal growth retardation, Upper limb asymmetry, Polydactyly, ... |
ORPHA:231140 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Inguinal hernia, Hearing impairment, Hyperlordosis, Short neck, Short thorax,... |
ORPHA:3218 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomeg... |
ORPHA:1046 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Retinal thinning, Postaxial polydactyly, Micronodular cirrhosis, Hepatospl... |
OMIM:618955 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,... |
ORPHA:94068 |
Mend Syndrome |
|
Redundant neck skin, Broad hallux, Cryptorchidism, 2-3 toe syndactyly, Macular hypoplasia, Low-se... |
OMIM:300960 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... |
OMIM:300707 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Facial hypotonia, Broad nasal tip,... |
OMIM:617557 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosi... |
ORPHA:476126 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Atrial septal defect, Hepatoblastoma, Thick n... |
ORPHA:1465 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Bulbous nose, Coloboma, Talipes equinovarus, Macrotia |
OMIM:617695 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis... |
ORPHA:3191 |
Chime Syndrome |
|
Depressed nasal ridge, Short palm, Sparse hair, Abnormality of the kidney, Aplastic clavicle, Apl... |
ORPHA:3474 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Anteverted nares, Depressed nasal bridge, ... |
OMIM:615398 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Broad hallux, Anteverted nares, Postaxial polydactyly, ... |
ORPHA:457284 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Hyperextensibility of the knee, Elevated circulating thyroid-stimulati... |
OMIM:601812 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Postaxial polyda... |
OMIM:219730 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Bulbous nose, Sensorineural hearing impair... |
OMIM:615219 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short finger, Clin... |
OMIM:619467 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Hypothyroid... |
ORPHA:3258 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairm... |
ORPHA:2790 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Cholangitis, Edema, Short neck, Short metatarsal, Renal cyst, M... |
OMIM:266920 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Cryptorchidism, Nephrocalcinosis, B... |
OMIM:615633 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Mitral valve prolapse, Pectus carinat... |
OMIM:616166 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn... |
ORPHA:3253 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal tibia morphology, Protruding ear, Atrial septal defect, Subcutaneous neurofibroma, Paten... |
ORPHA:363700 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Anteverted nares, Sensorineural hearing impairment, Hip ... |
OMIM:615155 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Menkes Disease |
|
Venous insufficiency, Intracranial hemorrhage, Narrow chest, Sparse hair, Osteoporosis, Joint hyp... |
ORPHA:565 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal c... |
ORPHA:488618 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Postnatal growth retardation, Ulnar bowing,... |
OMIM:619135 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly |
ORPHA:1777 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia |
OMIM:617562 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly, Bifid nose |
OMIM:619452 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... |
ORPHA:229 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Hype... |
OMIM:615065 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... |
OMIM:615849 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Depressed nasal bridge, Fla... |
OMIM:146000 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Clinodactyly, Pulmonary artery atresia, Vesicoureteral reflu... |
OMIM:616894 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Abnormal cerebral v... |
ORPHA:60015 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Microphthalmia, Intrauterine growth retardation, Ol... |
ORPHA:228390 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Narrow chest, Thoracic dysplasia, Spar... |
OMIM:614091 |
Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Short neck, Proxim... |
OMIM:261540 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ... |
ORPHA:1272 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Short neck, Prominent nose, Long nose, Microcornea, Heterochromia iridis, Iris coloboma, Prominen... |
ORPHA:2995 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urin... |
OMIM:252900 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Camptodactyly of finger, Growth delay, Microphthalmia, Intrauterine growth re... |
OMIM:610756 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Increased bon... |
ORPHA:1798 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Sclerocornea, Adrenal hypoplasia, Uplifted earlobe... |
OMIM:607932 |
Timothy Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypothyroidism, Patent ductus ar... |
OMIM:601005 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu... |
OMIM:611588 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology, Renal insufficiency |
ORPHA:3222 |
H Syndrome |
|
Corneal arcus, Micropenis, Alopecia, Abnormality of the kidney, Recurrent pharyngitis, Delayed sk... |
ORPHA:168569 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Polyhydramnios, Flexion contracture, Knee flexion contracture, Foot d... |
ORPHA:2020 |
Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Dilated cardiomyopathy... |
OMIM:310200 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... |
ORPHA:3405 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Limb joint contracture, Camptoda... |
ORPHA:356961 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Decreased response to growth hormon... |
OMIM:610829 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, M... |
OMIM:277380 |
Caudal Regression Syndrome |
|
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Maternal diabet... |
ORPHA:3027 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
Zimmermann-Laband Syndrome 1 |
|
Hyperextensibility of the finger joints, Synophrys, Low anterior hairline, Spina bifida occulta, ... |
OMIM:135500 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal heart morphology, Vertebral segmenta... |
ORPHA:531151 |
Alport Syndrome |
|
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... |
ORPHA:63 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bone pain, Reduced bone mineral density, Narrow chest, Otitis media, Hepatomegaly, Pulmonary arte... |
ORPHA:667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Increased variability in musc... |
OMIM:613150 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Ventricular septal defect, Pulmonary artery sling, Coronary sinus en... |
OMIM:619268 |
Igg4-Related Aortitis |
|
Low back pain, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta... |
ORPHA:449400 |
Monosomy 18P |
|
Short stature, Lymphedema, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous malfor... |
OMIM:150230 |
Foix-Alajouanine Syndrome |
|
Back pain, Low back pain, Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence,... |
ORPHA:79093 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara... |
OMIM:615986 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypoplastic left he... |
OMIM:619562 |
Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Anophthalmia, Urethral atresia, Vertebral segmentation defec... |
ORPHA:2052 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Deep palmar crease |
OMIM:600251 |
Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy... |
OMIM:608091 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, Juvenile rhe... |
OMIM:607944 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Prominent corneal nerve fibers, Elevated circulating parathyroid hormo... |
ORPHA:653 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Coloboma, Sensorineural hearing impairment, Anteverted nares |
OMIM:166750 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Recurrent fractures,... |
OMIM:166200 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Protruding ear, Atrial septal defect, Absent gallbladder, Dep... |
OMIM:617140 |
3Mc Syndrome 3 |
|
Short stature, Diastasis recti, Preaxial polydactyly, Growth delay, Radioulnar synostosis, Clinod... |
OMIM:248340 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,... |
ORPHA:568051 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature, Cerebellar hypoplasia |
OMIM:251270 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Abnormal nasal morphology, Splenomegaly, Abnorma... |
ORPHA:1133 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Venous insufficiency, Upper limb asymmetry, Ovarian neoplasm, Reduced bone m... |
ORPHA:137608 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas... |
ORPHA:2470 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Pectus excavatum, ... |
OMIM:104350 |
Distal 22Q11.2 Microduplication Syndrome |
|
Depressed nasal ridge, Protruding ear, Camptodactyly of toe, Branchial fistula, Tapered finger, C... |
ORPHA:261337 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars... |
OMIM:617102 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achilles tendon contracture, S... |
OMIM:619719 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Asc... |
OMIM:602361 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect, Retinitis, Posteri... |
OMIM:615948 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Microphthalmia, Tapered finger, Intrauterine growth retardation |
ORPHA:1438 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Single transverse palmar crease, Overlapping toe, Tapered finger, S... |
OMIM:619148 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Urinary incontinence, Kyphosis, Breech ... |
OMIM:616482 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Webbed neck, Abnormality of the outer ear, Hearing i... |
OMIM:314600 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Postnatal growth retardation, Heart murmur, Atrial septal defect... |
ORPHA:2728 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... |
ORPHA:649 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Posteriorly rotated ears, Congenital sensorineural hear... |
OMIM:617306 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Knee flexion contracture, Camptodactyly, Microphthalmia, Cubitus valgus |
OMIM:619694 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Postnatal growth retardation, Abnormal h... |
ORPHA:494344 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... |
OMIM:620285 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi... |
OMIM:271640 |
Mohr Syndrome |
|
Syndactyly, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, ... |
OMIM:252100 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Internal hemorrha... |
ORPHA:335 |
Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, No permanent dentition, Flexion contractur... |
ORPHA:821 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o... |
ORPHA:66630 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Short thumb, Patent ductus ar... |
OMIM:612561 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Fetal ascites, Ascending ao... |
ORPHA:141127 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal... |
OMIM:114290 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Narrow chest, Atria... |
ORPHA:280633 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat... |
ORPHA:137667 |
Oculofaciocardiodental Syndrome |
|
Cubitus valgus, Short thumb, 2-3 toe syndactyly, Broad palm, Mitral valve prolapse, Genu valgum, ... |
ORPHA:2712 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Posteriorly rotated ears, Sh... |
OMIM:612813 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Protruding ear, Hypothyroidism, Patent foramen ovale, Simple ea... |
OMIM:619325 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Anteverted nares, Micromelia, Short neck, Polyhydramnios, Abnormal en... |
ORPHA:93298 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Anteverted nares, Cryptorchidism, M... |
OMIM:227330 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, Anophthalmia, Failure of eruption of permanent teeth, Inguinal her... |
ORPHA:2250 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Polydactyly, Short finger |
OMIM:182230 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Hypogonadism, Rod-cone dystrophy, Ren... |
OMIM:615985 |
Braddock Syndrome |
|
Congenital muscular torticollis, Short stature, Preaxial hand polydactyly, Pulmonary arterial hyp... |
ORPHA:52047 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Triphalangeal thumb, E... |
ORPHA:2549 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Short neck, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clinoda... |
ORPHA:2001 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Craniosynostosis, Abnormality of the urethra, Abnormality of the u... |
ORPHA:2145 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Promi... |
OMIM:135900 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Abnormality of the lymph... |
ORPHA:276280 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Lamb-Shaffer Syndrome |
|
Broad nasal tip, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoli... |
ORPHA:530983 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Abnormality of the humerus, Nephrogenic d... |
ORPHA:3130 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Hydrocephalus, Growth delay, Chiari type I malformation, Microphthalmia, Radial dys... |
OMIM:617244 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Congenital diaphragmatic hernia, Polyhydramnios, Large fleshy ears, Atrial ... |
OMIM:614080 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... |
OMIM:610017 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Posteriorly rotated ears, ... |
ORPHA:2211 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Polyhydramnios, Proximal placement of thumb, Knee flexion contra... |
ORPHA:3103 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal d... |
OMIM:107480 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Short stature, Polydactyly |
OMIM:300484 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Spina bifida, Precocious puberty, Cryptorchidism, Lymphedema, Renal transitiona... |
ORPHA:2874 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Abnormal thorax morp... |
ORPHA:2184 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine... |
OMIM:252930 |
Cockayne Syndrome A |
|
Dry hair, Abnormal peripheral myelination, Prominent nose, Ivory epiphyses of the phalanges of th... |
OMIM:216400 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Si... |
OMIM:602471 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Palmoplantar keratoderma, Pulmonic stenosis, Sparse... |
OMIM:615508 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydrocele testis, V... |
ORPHA:79452 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Flexion contrac... |
OMIM:154700 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Cataract, Diabetes mellitus, Proteinuria, Pre... |
ORPHA:33001 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Renal cyst, Atrial septal defect, Con... |
OMIM:117650 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Cardiomy... |
ORPHA:258 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes... |
ORPHA:643 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios |
OMIM:619053 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Anteverted nares, Postaxial polydactyly, Facial hypotonia,... |
OMIM:616362 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea... |
OMIM:619476 |
Ciliary Dyskinesia, Primary, 25 |
|
Dextrocardia, Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Chronic rhinit... |
OMIM:615482 |
Kleefstra Syndrome 1 |
|
Natal tooth, Anteverted nares, Single transverse palmar crease, Hearing impairment, Persistence o... |
OMIM:610253 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Pectus carinatum, Microcornea, Chorioretinal coloboma, Atrial septal defect, Ir... |
OMIM:235730 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Sclerocornea, Catar... |
OMIM:309801 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Alopecia totalis, Pericardi... |
OMIM:618775 |
Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Atrial septal defect, Clinodactyly of the 5th finger, Advanced eruption of teeth,... |
ORPHA:1519 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Hallux valgus, Short stature, Sandal gap, Tapered finger, Secundum atrial s... |
OMIM:620072 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Flexion contracture, Microphthalmia, M... |
OMIM:614833 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Webbed ne... |
OMIM:612918 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Short stature, Arachnodactyly, Tapered finger, Cubi... |
ORPHA:193 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphosis, Elevated urinary ... |
OMIM:162300 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Ag... |
ORPHA:59315 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Self-injurious b... |
ORPHA:449291 |
Mosaic Trisomy 8 |
|
Short neck, Protruding ear, Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th ... |
ORPHA:96061 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Polycystic liver disease, Lymphedema, Pancreatic cysts, Polysplenia, Po... |
OMIM:211890 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Bilateral micropht... |
ORPHA:369891 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, Lumbar hemivertebrae, Abnormal b... |
ORPHA:2463 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... |
OMIM:612913 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Sandal gap, 3-4 finger... |
OMIM:612530 |
Syndromic Diarrhea |
|
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of th... |
ORPHA:84064 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhiz... |
OMIM:151210 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic fibrosis, Narrow chest, Thoraci... |
OMIM:263520 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Cerebellar vermis atrophy |
ORPHA:163681 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Choanal atresia, Posteriorly rotated ears, Polyhydramnios, Premature b... |
ORPHA:2759 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Bulbous nose, Hydrocephalus... |
ORPHA:2180 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Diabetes mellitus, Lower limb muscle weakness, Myo... |
OMIM:615980 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptor... |
OMIM:619471 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial en... |
OMIM:616028 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Wide nasal bridge, Symphalangism aff... |
ORPHA:710 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r... |
ORPHA:2215 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Kyphosis, Rod-cone dystrophy, A... |
ORPHA:88628 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Choanal stenosis, Conductive hearing impairment, Spi... |
OMIM:218600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Venous insufficiency, Osteoarthritis, Abnormality of the wrist, Keratoconus, V... |
ORPHA:285 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... |
OMIM:200600 |
Adnp Syndrome |
|
Single transverse palmar crease, Urinary incontinence, Abnormal finger morphology, Protruding ear... |
ORPHA:404448 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, D... |
OMIM:180860 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger sy... |
OMIM:603467 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia ... |
OMIM:200980 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Low posterior hairlin... |
ORPHA:1323 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Facial hypotonia, Dispr... |
ORPHA:85194 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis |
OMIM:611884 |
Clapo Syndrome |
|
Macrodactyly, Lymphedema, Pectus excavatum, Hemihypertrophy of upper limb, Varicose veins, Narrow... |
ORPHA:168984 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Legius Syndrome |
|
Cataract, Neurofibroma, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dysplasia, Lisch nodul... |
ORPHA:137605 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Communicating hydrocephalus, Thickened ribs, Short neck, Oligosacchariduria, Pectus c... |
ORPHA:309282 |
Thoracoabdominal Syndrome |
|
Omphalocele, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arterios... |
OMIM:313850 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Sparse eyelashes, Camptodactyly of finger, Underdeve... |
ORPHA:306542 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short... |
ORPHA:2319 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Joubert Syndrome 23 |
|
Coloboma, Sensorineural hearing impairment, Polydactyly |
OMIM:616490 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio... |
OMIM:616037 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Aspergillosis |
|
Osteomyelitis, Abnormality of the kidney, Keratitis, Vitritis, Hepatitis, Abnormal rib morphology... |
ORPHA:1163 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the p... |
ORPHA:542643 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology |
ORPHA:743 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:617120 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy, Palpebral edema, Hyperlordosis, Abnormal retinal vascular morphology, Ab... |
ORPHA:269 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, Narrow chest, Broad ribs, Joi... |
OMIM:304150 |
Bilateral Polymicrogyria |
|
Sensorineural hearing impairment, Abnormality of masticatory muscle, Central hypothyroidism, Faci... |
ORPHA:268940 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, Hemiatrophy of u... |
ORPHA:163649 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiph... |
ORPHA:773 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... |
ORPHA:573278 |
Ciliary Dyskinesia, Primary, 38 |
|
Dextrocardia, Situs inversus totalis, Rhinitis, Conductive hearing impairment, Chronic otitis media |
OMIM:618063 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Premature delivery because of cervical insufficiency or membrane fragility, Hypermobility of dist... |
OMIM:130050 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Prominent nose, Low anterior hairline, Thickened helices, Prominent fingertip pads, T... |
OMIM:619950 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu... |
ORPHA:2847 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... |
OMIM:151050 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Low-set, posteriorly rotated ears, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosis, Rhizo... |
ORPHA:171866 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Wide nose, Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Cryptorchidism, Synophr... |
OMIM:616078 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Recurrent otitis media, Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad n... |
OMIM:618846 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Abnormal pupil morphology, Osteoarthritis, Protrud... |
ORPHA:286 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual m... |
OMIM:194050 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo... |
OMIM:600920 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the ey... |
ORPHA:522077 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... |
ORPHA:2842 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... |
OMIM:612422 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Ch... |
OMIM:616629 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Arterial... |
OMIM:614473 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abdominal aortic aneurysm, Joint laxity, A... |
ORPHA:284984 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Short stature, Oligohydramnios, Hypoplasia of the iris, Hypoplasia of the bra... |
OMIM:251300 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Hypospadias, Pectus... |
OMIM:606851 |
Omodysplasia 1 |
|
Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fibul... |
OMIM:258315 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact... |
OMIM:617527 |
Iniencephaly |
|
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hype... |
ORPHA:63259 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Pectus excavatum, Cryptorchidism, Patent ductus arterios... |
OMIM:100100 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Accelerated skeletal maturation, Coloboma, Chorioretinitis, Abnormal tr... |
ORPHA:199276 |
Temtamy Syndrome |
|
Aortic regurgitation, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachy... |
OMIM:218340 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Congenital diaphragmati... |
ORPHA:1647 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplas... |
ORPHA:1318 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract... |
OMIM:618183 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Anterior concav... |
OMIM:216340 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... |
ORPHA:99868 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis |
OMIM:614679 |
Fetal Alcohol Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, Intrauterin... |
ORPHA:1915 |
Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Chronic otiti... |
ORPHA:1452 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Duplication of phalanx of hal... |
OMIM:243310 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot |
OMIM:601349 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Peripheral edema, Interstitial cardiac fi... |
ORPHA:75249 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Edema, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphth... |
ORPHA:2505 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Scolios... |
ORPHA:555877 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Mend Syndrome |
|
Overlapping fingers, Short stature, Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2... |
ORPHA:401973 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst, Myopathy |
OMIM:109130 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious pube... |
ORPHA:58 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, Inguinal hernia, Hearing impairm... |
ORPHA:2588 |
Meester-Loeys Syndrome |
|
Joint dislocation, Aortic dissection, Arachnodactyly, Hypertrichosis, Cervical spine instability,... |
OMIM:300989 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ... |
OMIM:271520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Muscular dystr... |
OMIM:614643 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... |
ORPHA:1436 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short f... |
OMIM:258860 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:128100 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Abnormal heart morphology, Pol... |
ORPHA:314655 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Intrauterine growth... |
OMIM:617914 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Pectus carinatum, Narrow chest, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulon... |
OMIM:619525 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangea... |
ORPHA:2232 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General... |
OMIM:264090 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Breech presentat... |
OMIM:617821 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... |
ORPHA:254854 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Tracheomalacia, Cardiomegaly, Patent ductus arteriosu... |
ORPHA:95430 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Papilledema, Wide nose, Delayed eruption of teeth, Broad hallux, Depressed nasal b... |
OMIM:614188 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Subvalvu... |
OMIM:613001 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Optic neuropathy, Hearing imp... |
OMIM:619727 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph... |
ORPHA:263508 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormal long bone morphology, Nuchal rigidity, Abnormality of the liv... |
ORPHA:228123 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology, Edema |
ORPHA:97330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Increased variability in muscle fiber diameter, Buph... |
OMIM:616538 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, ... |
ORPHA:1486 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio... |
ORPHA:891 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubuloint... |
ORPHA:449395 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Ectopic accessory finger-like appendage, Postaxial hand polydactyly, Posta... |
ORPHA:2919 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous ret... |
ORPHA:555874 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short n... |
ORPHA:2021 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Dehydration, Protruding ... |
ORPHA:534 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Capitate-hamate fusion, Postaxial hand polyd... |
OMIM:225500 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Anteverted nares, Aganglionic megacolon, Hearing impairment, Polyhydra... |
ORPHA:3339 |
Laurence-Moon Syndrome |
|
Polydactyly, Short stature, Abnormality of the hand |
OMIM:245800 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Dextrocardia, Situs inversus totalis, Otitis media, Hearing impairment |
OMIM:606763 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Knee flexion contracture, Hypoplasia of the iris, Prominent crus of... |
OMIM:619194 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Short stature, Single transve... |
OMIM:272950 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Short stature, Abnormal heart morphology, Microphthalmia, Inferior cerebellar ve... |
OMIM:618571 |
Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Patent ductus arterios... |
ORPHA:30 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Dextrocardia, Situs inversus totalis, Rhinitis, Recurrent sinusitis, Recurrent o... |
OMIM:615444 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... |
OMIM:309620 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Abnormal rib morphology, Dec... |
ORPHA:2097 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Postaxial hand polydactyly, Hydrocephalus, Abnormal cardiac septum... |
ORPHA:2166 |
Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Synophrys, Cutaneous finger syndactyly, Megalocornea, Penoscrotal hypos... |
OMIM:211380 |
Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Anteverted nares, Prominent ... |
ORPHA:2604 |
Myotonia Permanens |
|
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Limitation of joint mobility, Hyperl... |
ORPHA:99735 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased muscle mass, Short stature, Flexion contracture, Severe postnatal g... |
OMIM:615663 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Short stature, Proximal placement of thumb |
OMIM:617883 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Absence of lymph node germinal center, Facial ed... |
ORPHA:90186 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide nasal bridge, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fus... |
OMIM:617333 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Cataract, Hypogonadotropic hypogonadism, Choanal atresia, Absent tragus, Abnorma... |
OMIM:603457 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Small hand, Short foot, Severe intrauterine growth retardation, Sho... |
OMIM:241410 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Abnormal a... |
ORPHA:71273 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Postnatal growth retardation, Preaxial hand polydactyly, Contractures of the large joints, Clinod... |
ORPHA:96179 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Abnorma... |
ORPHA:444072 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microphthalmia, Intra... |
OMIM:613451 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Br... |
ORPHA:2643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the... |
OMIM:253280 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Peripheral edema, Abnormality of the hepati... |
ORPHA:1677 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Abnormal rib cage morphology, Hand polydactyly, Talipes e... |
OMIM:217100 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Anteverted ears, Macrotia, Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pu... |
OMIM:100300 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Hyperlordosis, Hip dysplasia, Limb-girdle ... |
OMIM:615356 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav... |
OMIM:617168 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Retrocerebellar cyst, Talipes equinovarus, Preax... |
ORPHA:1827 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Vert... |
ORPHA:2578 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaund... |
ORPHA:57777 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, P... |
ORPHA:438213 |
Kinsship Syndrome |
|
Osteopenia, Sacral dimple, Single transverse palmar crease, Short neck, Coxa valga, Bulbous nose,... |
OMIM:619297 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Preaxial hand polydactyly,... |
OMIM:610536 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of... |
ORPHA:251038 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Delayed puberty, Mic... |
ORPHA:2510 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Synophrys, Anotia, Bila... |
ORPHA:261112 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Communicating hydrocephalus, Arachnodactyly, Prominent nasal bridge, Posteriorly ro... |
OMIM:617011 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Foot polydactyly |
ORPHA:210548 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Pulmonary arteria... |
OMIM:616449 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Preaxial hand polydactyly, Short stature |
ORPHA:79113 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Short stature, Absent thumb, Absent radius, Short thumb, Flexion contr... |
OMIM:227645 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Joint laxity, Communicating hydrocephalus, Lumbar hyperlordosi... |
ORPHA:457359 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormality of the thyroid gland, Hemivertebrae, Abnormal rib mo... |
ORPHA:2234 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Polydac... |
OMIM:613464 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Short stature, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly,... |
OMIM:257850 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Postnatal growth retardation, Flexion contracture, Microphthalmia, Clinodactyly ... |
OMIM:614225 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, Macrovesicular hepatic steatosis, S... |
OMIM:619127 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Decreased serum testosterone concentration, Streak ovary, Abnormal perip... |
ORPHA:168563 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Postnatal growth retardation, Flexion contracture, Clinodactyly of the 5th... |
OMIM:614222 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo... |
ORPHA:2167 |
Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Short stature, Camptodactyly of finger, Congestive... |
ORPHA:464 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Flexion contracture, Neonatal epiphyseal stippling, Hip dislocation, Upper limb as... |
ORPHA:35173 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, M... |
OMIM:175050 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Short stature, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Po... |
ORPHA:2751 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join... |
OMIM:612852 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Dilation of Virchow-Robin spaces, Hyperlordosis, Hypo... |
ORPHA:73223 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart... |
OMIM:184705 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fingers, Per... |
ORPHA:99106 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Syndactyly, Tricuspid regurgitation, Bicuspid aortic valve, Short stature, ... |
OMIM:612289 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Prominent nose, Long... |
ORPHA:2636 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Patent foramen o... |
OMIM:263650 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... |
OMIM:608670 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Cho... |
ORPHA:83 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Short stature, Holoprosencepha... |
ORPHA:1587 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial dupli... |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmi... |
OMIM:600901 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Pancreatic adenocarcinoma, Nasal polyposis, Neoplasm of the nose, Abnormality of th... |
ORPHA:2869 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
Lead Poisoning |
|
Anorexia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Depression, Attention defi... |
ORPHA:330015 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Growth delay, Bilateral talipes equinovarus, Cerebell... |
OMIM:614083 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly |
OMIM:618727 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmi... |
OMIM:227650 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, 2-5 finger syndactyly, Severe short stature, Multiple joint contractures, Opt... |
ORPHA:468631 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anophthalmia, Broad nasal tip, Bifid nasal tip, Microphthalmia, Abnormality of the h... |
OMIM:248450 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thick eyebrow, Abnormal pinna morphology, Symblepharon, Sternocleidomastoid amyotroph... |
ORPHA:488434 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Varicose veins, Nephritis,... |
OMIM:314300 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Clinodactyly of the... |
ORPHA:65286 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
Liposarcoma |
|
Varicose veins, Abnormality of the kidney |
ORPHA:69078 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Long ear, Aplasia... |
OMIM:276820 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... |
OMIM:620098 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Oculodentodigital Dysplasia |
|
Cubitus valgus, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5t... |
OMIM:164200 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Tapered finger, Small hand, Severe postnatal growth retardation, Pulmonary a... |
OMIM:620005 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Recurrent otitis media, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Overlapping toe, Hip dislocation, Gro... |
OMIM:613884 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Cholestasis, Mitral valve prolapse, Pleural effusion, ... |
OMIM:620233 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Facial palsy, Polyhydramnios, Single transverse palmar crease, Bro... |
OMIM:620186 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Prominent nose, Elbow dislocation, Kyphosis, Long nose, B... |
ORPHA:2769 |
Oculo-Palato-Cerebral Syndrome |
|
Short stature, Small hand, Short foot, Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Premature birth, Proteinuria, Unilateral... |
ORPHA:93101 |
Papillorenal Syndrome |
|
Short stature, Edema, Chiari type I malformation, Hypertension, Microphthalmia |
OMIM:120330 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Growth delay, Camptodactyly, Microphthalmia, Absent palmar crease |
OMIM:614230 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Cuboid-shaped vertebr... |
OMIM:612731 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vertigo, ... |
ORPHA:97214 |
Radio-Renal Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia... |
ORPHA:3015 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Oculotrichoanal Syndrome |
|
Bifid nasal tip, Microphthalmia, Anophthalmia, Abnormal hair pattern |
ORPHA:2717 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia, Conotruncal defect |
OMIM:243440 |
Pierson Syndrome |
|
Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhag... |
OMIM:609049 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or a... |
ORPHA:3353 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Abnormality o... |
OMIM:601076 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Stiff-Person Syndrome |
|
Diabetes mellitus, Lumbar hyperlordosis, Proximal limb muscle stiffness, Asymmetric limb muscle s... |
OMIM:184850 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mob... |
ORPHA:314621 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Anomalous ... |
ORPHA:99104 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Microphthalmia, Cerebellar vermis atrophy, Dandy-Walker malformation |
OMIM:156610 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Lumbar hyperlordosis, Hypothyroidism, Paraspinal muscle hypertrophy |
ORPHA:3198 |
Glomuvenous Malformation |
|
Abnormality of the nasal cavity, Abnormal renal morphology, Gastrointestinal arteriovenous malfor... |
ORPHA:83454 |
Atelis Syndrome 2 |
|
Single transverse palmar crease, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic st... |
OMIM:620185 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Erythrocytosis, Familial, 2 |
|
Varicose veins, Stroke, Cerebral hemorrhage, Elevated circulating erythropoietin concentration |
OMIM:263400 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Cockayne Syndrome B |
|
Severe short stature, Cerebellar calcifications, Postnatal growth retardation, Ivory epiphyses of... |
OMIM:133540 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Adducted thumb, Short stature, Unilateral microphthalmos, Mitral valve prolapse |
OMIM:618874 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Macrodactyly, Venous malformation, Lymphedema |
OMIM:613089 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... |
ORPHA:284160 |
Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Upper limb muscle weakness, ... |
ORPHA:206448 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinop... |
OMIM:605231 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus |
OMIM:601389 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal s... |
ORPHA:3035 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Hip dysplasia, Microphthal... |
OMIM:300895 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Abnormal renal morphology, Pigmentary retinopathy, Polydactyly, Posterior pola... |
OMIM:616562 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Dubowitz Syndrome |
|
Syndactyly, Short stature, Single transverse palmar crease, Postnatal growth retardation, Hypopla... |
OMIM:223370 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Faci... |
ORPHA:79139 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Witteveen-Kolk Syndrome |
|
Polyhydramnios, Congenital diaphragmatic hernia, Proximal placement of thumb, Intracranial hemorr... |
OMIM:613406 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Unilateral microphthalmos |
OMIM:615085 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial ... |
ORPHA:68 |
Hallermann-Streiff Syndrome |
|
Proportionate short stature, Congestive heart failure, Small hand, Short foot, Cerebellar hypopla... |
ORPHA:2108 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity... |
ORPHA:60030 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short stature, Short thumb, Small hand, Telangiectasia, Short foot, T... |
OMIM:268400 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... |
ORPHA:93317 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Maternal diabetes, Pos... |
ORPHA:49 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Short stature, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal ... |
OMIM:201180 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Transient ischemic attack, Depressed ... |
ORPHA:2929 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Bilateral microphthalmos, Clubbing, Cardi... |
ORPHA:33364 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Flexion contracture, Short stature, Telangiectasia |
OMIM:601675 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Abnormal renal tubule morphology, Camptodactyly of finger, Abnormal preputium ... |
ORPHA:2907 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Webbed neck, ... |
OMIM:602196 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Preaxial hand polyd... |
ORPHA:2753 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse... |
ORPHA:1236 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis... |
OMIM:187300 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo... |
ORPHA:3404 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... |
ORPHA:1506 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Inguinal hernia, Renal duplication, Hypospadias, Distal ... |
ORPHA:227 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Single umbilical... |
OMIM:182210 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia, Short stature |
OMIM:610651 |
Momo Syndrome |
|
Short stature, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital p... |
ORPHA:2563 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... |
ORPHA:93325 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis... |
OMIM:600376 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... |
OMIM:610828 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Sin... |
OMIM:236100 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Choanal atresia, Joint stiffness, Cryptorchidism, Split hand, ... |
ORPHA:1300 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Epispadias, Anotia, Clinodactyly of the 5th finger, Microtia, third degree, ... |
ORPHA:2554 |
Atrial Septal Defect, Ostium Secundum Type |
|
Transient ischemic attack, Pedal edema, Right ventricular dilatation, Stroke, Abnormal mitral val... |
ORPHA:99103 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Clubbing, Biliary tract abnormality, ... |
OMIM:175200 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation |
ORPHA:2612 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Mi... |
OMIM:259770 |
Familial Cerebral Cavernous Malformation |
|
Retinal cavernous angioma, Cerebral hemorrhage, Neuroma, Choroidal hemangioma, Scoliosis, Venous ... |
ORPHA:221061 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Hepatomegaly, Double aortic arch |
OMIM:230900 |
Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Short stature, Microphthalmia, Thickened cortex of long bones, Abnormality ... |
OMIM:127000 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature... |
OMIM:619539 |
Cockayne Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Severe short stature, Postnatal growth retardation, ... |
ORPHA:191 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the ... |
OMIM:616734 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Bladder Exstrophy |
|
Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Epispadias... |
ORPHA:93930 |
Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly, Oligohydramnios |
OMIM:617666 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Short stature, Retinal hemorrhage |
OMIM:308300 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Short finger, Microphthalmia, Cubitus valgus |
OMIM:601552 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... |
ORPHA:93271 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Wrist swelling, Hip disloca... |
OMIM:309000 |
Choanal Atresia |
|
Nasal congestion, Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Treacher Collins Syndrome 2 |
|
Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he... |
OMIM:613717 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, ... |
OMIM:157170 |
Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iri... |
OMIM:175780 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Flexio... |
ORPHA:2908 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Hypoplastic pelvis, Congenital diaphragmatic hernia |
OMIM:273395 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular dilatation, Osteomyelitis, Edema, Right atrial enlargement |
ORPHA:70591 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Brachydactyly, Short stature, Abnormal midbrain morphology, Delayed puberty |
ORPHA:293987 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |