| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... |
OMIM:620152 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Calvarial skull defect, Enceph... |
ORPHA:1931 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... |
OMIM:613885 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... |
OMIM:251255 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equi... |
OMIM:616570 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Micromelia, Intrauterine growth retardation, Microcephaly, Microphthalmia |
ORPHA:291 |
| Mmep Syndrome |
|
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Acalvaria |
|
Calvarial skull defect, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postax... |
ORPHA:945 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:164180 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus,... |
ORPHA:1528 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... |
OMIM:102510 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Talipes e... |
OMIM:206920 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... |
ORPHA:139471 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, Microphthalmia, Short stature, Growth delay |
ORPHA:2528 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem... |
ORPHA:31824 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Microcephaly, Short stature, Clinodactyly of the 5th fi... |
ORPHA:3268 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... |
ORPHA:3265 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap |
OMIM:251220 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Intrauterine ... |
ORPHA:1327 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele |
OMIM:213010 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia |
OMIM:618406 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... |
ORPHA:1113 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... |
ORPHA:166024 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Oxycephaly, Preaxial foot polyd... |
ORPHA:65759 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... |
OMIM:175700 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... |
OMIM:600325 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... |
OMIM:603194 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... |
OMIM:615665 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... |
OMIM:611134 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Cerebellar hypoplasia,... |
OMIM:616171 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Diffuse cerebral atrophy, Microcephaly, Brachycephaly, Bradycardia, Flat occiput |
ORPHA:2898 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Seckel Syndrome 2 |
|
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... |
OMIM:606744 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... |
OMIM:611561 |
| Aplasia Cutis Congenita |
|
Calvarial skull defect, Toe syndactyly, Finger syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth ... |
ORPHA:2117 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Secondary microcephaly, Postnatal growth retardation, Short midd... |
OMIM:614326 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... |
OMIM:613155 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:618725 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... |
ORPHA:2839 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen, Elevated circulating dihy... |
OMIM:223360 |
| Lissencephaly 8 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:617255 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger |
ORPHA:391646 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Thin calvarium, Single t... |
ORPHA:2437 |
| Hydrolethalus |
|
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, P... |
ORPHA:2189 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... |
OMIM:182230 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Schisis Association |
|
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly |
ORPHA:63862 |
| Pentasomy X |
|
Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Microcephaly, Delayed ... |
ORPHA:11 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly |
OMIM:617119 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Intrauterine growth r... |
ORPHA:1466 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Brachycephaly, Hip subluxat... |
OMIM:620200 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intr... |
ORPHA:1908 |
| Non-Distal Duplication 10Q |
|
Microcephaly, Brachycephaly, Short stature, Frontal bossing, Aplasia/Hypoplasia affecting the eye |
ORPHA:1695 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... |
ORPHA:1553 |
| Temtamy Syndrome |
|
Short toe, Aplasia/Hypoplasia of the corpus callosum, Dolichocephaly, Brachydactyly, Macrocephaly... |
ORPHA:1777 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Summitt Syndrome |
|
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Bra... |
ORPHA:3210 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Focal cortical dysplasia, Hypoplasia of the brainste... |
OMIM:614563 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Hypocalc... |
ORPHA:94093 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... |
ORPHA:163966 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Bicoronal synostosis, Agenesis... |
OMIM:618736 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ... |
OMIM:602849 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Arrhythmia |
ORPHA:428 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:278780 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly, Abnormal morphology of the radius |
ORPHA:3469 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyperuricemia, Hyponatremia, Pulmonary arterial hypertension, Increased blood ure... |
OMIM:613845 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... |
OMIM:614416 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Cornelia De Lange Syndrome 2 |
|
Small hand, Clinodactyly, Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine... |
OMIM:300590 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormal calvaria morphology, Microphthalmia |
ORPHA:2432 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hematochezia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Growth delay |
OMIM:274270 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Abnormal epiphysis morphology, Frontal bossing, Abnormal metaphysis morphology, Agene... |
ORPHA:93267 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... |
OMIM:136760 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... |
ORPHA:1120 |
| Sporadic Fetal Brain Disruption Sequence |
|
Cerebral cortical atrophy, Plagiocephaly, Microcephaly, Prominent occiput |
ORPHA:1665 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Cone-shaped epiphysis, Abnormality of the wrist, Bilateral single transvers... |
ORPHA:2511 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Microphthalmia |
OMIM:609054 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Proboscis, Frontal bossing, Postnatal growth retardation, Encephalo... |
OMIM:605627 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Plagiocephaly, Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Turricepha... |
OMIM:613776 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Split foot, Microphthalmia |
OMIM:601349 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Clinodactyly, Microphthalmia |
OMIM:619981 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Adenylosuccinate Lyase Deficiency |
|
Microcephaly, Brachycephaly, Hypointensity of cerebral white matter on MRI, Flat occiput |
ORPHA:46 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Agenesis of cor... |
ORPHA:261344 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Intrauterine growth retardation, Calvarial ... |
ORPHA:3378 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Craniosynostosis 6 |
|
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Agenesis of... |
OMIM:616602 |
| Bresek Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Postaxial hand polyd... |
ORPHA:85284 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Metatarsus ... |
ORPHA:899 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Excessive wrinklin... |
ORPHA:487825 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Microcephaly, Deep palmar crease, Brachycephal... |
OMIM:602342 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... |
ORPHA:1106 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand |
ORPHA:2440 |
| Craniofrontonasal Dysplasia |
|
Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Frontal bossing, Hypoplasi... |
ORPHA:1520 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, As... |
OMIM:252920 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... |
OMIM:300887 |
| 17Q12 Microduplication Syndrome |
|
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia |
ORPHA:261272 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Cerebellar hypoplasia, Microc... |
OMIM:616038 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... |
OMIM:300337 |
| Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... |
OMIM:614814 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
| Gitelman Syndrome |
|
Hypotension, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardia, Prolonged QT int... |
OMIM:263800 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial poly... |
OMIM:619721 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Anophthalmia, Postaxial hand polydactyly |
ORPHA:66625 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Spina bifida, Macrocephaly |
OMIM:620439 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... |
OMIM:600118 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Curry-Jones Syndrome |
|
Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ... |
OMIM:601707 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Monosomy 5P |
|
Small hand, Finger syndactyly, Intrauterine growth retardation, Microcephaly, Short stature |
ORPHA:281 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis, Finger syndactyly |
ORPHA:1527 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Intrauterine growth retardation, Hypo... |
OMIM:618142 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Short stature,... |
OMIM:251270 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microcephaly, Microphthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Abnormal cortical gyration, Plagiocephaly, Elbow dislocation, Short thumb, Ect... |
ORPHA:2538 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:300915 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Tethered cord |
OMIM:617244 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Trisomy 18 |
|
Deviation of finger, Growth delay, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus call... |
ORPHA:3380 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissenc... |
ORPHA:272 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Trigonocephaly, Arach... |
ORPHA:2994 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Intrauterine growth ... |
ORPHA:99776 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Shorten... |
ORPHA:79102 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Spina bifida occulta, Brachycephaly, Finger syndactyly |
ORPHA:1514 |
| Hallermann-Streiff Syndrome |
|
Slender long bone, Frontal bossing, Thin calvarium, Scaphocephaly, Proportionate short stature, T... |
OMIM:234100 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypertension, Hypomagnesemia |
OMIM:612780 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Ulnar deviation of finger, Plagiocephaly, Camptodactyly of finger, Tricuspid regurgitation, Umbil... |
ORPHA:1101 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypomagnesemia, Hypocalcemic tetany, Hypocalcem... |
ORPHA:73224 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Polymic... |
OMIM:610758 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... |
OMIM:615181 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... |
OMIM:603387 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... |
OMIM:207950 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, I... |
OMIM:251230 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Trigonocephaly, Intrauterine growth retardation, Bilateral single transverse palmar... |
OMIM:618804 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Turricephaly, Brachycephaly, Hydrocephalus, Short stature |
ORPHA:1532 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly... |
ORPHA:352530 |
| Potocki-Shaffer Syndrome |
|
Parietal foramina, Single transverse palmar crease, Turricephaly, Brachycephaly, 2-5 finger cutan... |
OMIM:601224 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... |
OMIM:300049 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Postnatal growth retardation, Overlapping toe, Intrauterine growth retardation, Tri... |
OMIM:613792 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Microcephaly, Brachycephaly, Brachydactyly, Short ... |
ORPHA:2163 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... |
OMIM:145600 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Intrauterine growth retardation, Microcephaly, Microphthalmia, Rocker bo... |
OMIM:610756 |
| Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Bilateral single tr... |
ORPHA:264200 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... |
OMIM:619694 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... |
ORPHA:93258 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Calcification of falx cerebri, Microphthalmia, Po... |
OMIM:109400 |
| Gordon Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:613153 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of... |
ORPHA:1926 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Intrauterine growth retardation, Turricephaly, Brachycephaly, Brac... |
ORPHA:2145 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar crease, Cereb... |
OMIM:614219 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Cerebral calcification, Intrauterine growth retardation, Micro... |
ORPHA:1393 |
| Developmental And Epileptic Encephalopathy 1 |
|
Global brain atrophy, Plagiocephaly, Microcephaly, Microphthalmia, Growth delay |
OMIM:308350 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly |
ORPHA:77298 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip pads, Single transv... |
OMIM:618821 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Macrocephaly, Genu valgum, Hypoplasia of the corpus callosum,... |
OMIM:607131 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Microcephaly, Intrauterine growth retardation, Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Baraitser-Winter Syndrome 2 |
|
Pachygyria, Secondary microcephaly, Trigonocephaly, Agenesis of corpus callosum, Microphthalmia, ... |
OMIM:614583 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Arthritis |
ORPHA:37748 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... |
OMIM:618914 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Postnatal growth retardation, Overl... |
OMIM:614225 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... |
OMIM:161200 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Agenesis ... |
OMIM:618577 |
| 2Q32Q33 Microdeletion Syndrome |
|
Toe clinodactyly, Broad thumb, Arachnodactyly, Talipes equinovarus, Microcephaly, Brachycephaly, ... |
ORPHA:251019 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Cat-Eye Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Agenesis of corpus call... |
OMIM:614815 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Monosomy 18P |
|
Microcephaly, Brachycephaly, Brachydactyly, Microphthalmia, Short stature, Holoprosencephaly, Hyp... |
ORPHA:1598 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Intrauterine growth retardation, Microphthalmia, Hyperintensity of cer... |
ORPHA:48431 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Short stature |
ORPHA:320385 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Occipital encephalocele, Frontal bossing, Postaxial polydactyly, Cere... |
OMIM:614175 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Intrauterine growth retardation, Calvarial skull defect, Encephalocele,... |
ORPHA:228390 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... |
OMIM:260660 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Short palm, Syndactyly |
ORPHA:79094 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly, Frontal cortical atrophy, Macrocephaly |
OMIM:300699 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Calv... |
ORPHA:974 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Gitelman Syndrome |
|
Hypermagnesemia, Prominent U wave, Hypomagnesemia, Abnormal T-wave, Palpitations, Hypocalcemia, H... |
ORPHA:358 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly, Abnormally large globe, Rhizomelic arm shortening, Short lower limbs, Ab... |
ORPHA:96190 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Bro... |
ORPHA:508498 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... |
ORPHA:2092 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly, Short stature, Frontal bossing, Flat occiput |
OMIM:181510 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachycephaly, B... |
ORPHA:2377 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:615249 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
2-3 toe cutaneous syndactyly, Broad thumb, Microcephaly, Brachycephaly, Frontal bossing |
OMIM:617364 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Small hand, Plagiocephaly, Prominent occiput, Hypoplasia of the corpus callosum, Dolichocephaly, ... |
OMIM:618672 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Brachyturricephaly, Bilateral microphthalmos, Ethmoidal enc... |
OMIM:607597 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cerebral cortical atrophy, Ulnar deviation of finger, Abnormal distal phalanx morphology of finge... |
ORPHA:1387 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Carpal synostosis, Brachycephaly,... |
ORPHA:53271 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Short stature |
OMIM:615031 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Postnatal growth retardation, Polydactyly, Short stature, Clinodactyly of the 5th finger, Relativ... |
ORPHA:231140 |
| Meckel Syndrome |
|
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... |
ORPHA:564 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... |
OMIM:212720 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Hypotension, Hypertension, Reduced circulating cortisol-binding globulin concentration |
OMIM:611489 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Decreased palmar creases, Brachy... |
OMIM:615834 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Frontal bossing, Symphalangism affecting the phalanges of the hand, Camptodactyly... |
ORPHA:2547 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intrauterine growth... |
ORPHA:397590 |
| 6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Camptodactyly of finger, Agenesis of corpus callosum, Microcephaly, Short stature,... |
ORPHA:251056 |
| Houge-Janssens Syndrome 2 |
|
Plagiocephaly, Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus callosum, Agen... |
OMIM:616362 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Abnormal occipital bone morphology, Encephalocel... |
ORPHA:63259 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Intrauterine growth retardation, Microphthalmia, Frontal bossing, Tapered finger |
ORPHA:1438 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Intrauterine growth retardation, Clinodactyly of the 5th finger, Age... |
ORPHA:250989 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Brachycephaly, Short stature, Syndactyly |
OMIM:239710 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Frontal bossing, Anterior plagiocephaly, Abnormal femo... |
ORPHA:163649 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... |
OMIM:113000 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter... |
ORPHA:1578 |
| Trisomy 20P |
|
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical h... |
ORPHA:261318 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... |
OMIM:614424 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Cerebral atrophy, Umbilical hernia, Abnormal septum pellucidum morphology, Bowing... |
ORPHA:171839 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Low-to-normal bl... |
OMIM:601678 |
| Bartsocas-Papas Syndrome 2 |
|
Small hand, Prominent occiput, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Micropht... |
OMIM:619339 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Global brain atrophy, Plagiocephaly, Cerebral atrophy, Intrauterine growth retardation, Hypoplasi... |
OMIM:616801 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microcephaly, Microphthalmia, Sh... |
ORPHA:290 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Anophthalmia, Hypoplasia of the radius, Spina bifida, Microphtha... |
ORPHA:3412 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Trigonocephaly, Overlapping toe, Distally placed thumb, Encephalocele, Single transv... |
OMIM:619148 |
| Cornelia De Lange Syndrome 5 |
|
Small hand, Toe syndactyly, Postnatal growth retardation, Limited elbow extension, Microcephaly, ... |
OMIM:300882 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Fro... |
ORPHA:1515 |
| Holoprosencephaly |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Encephalocele, A... |
ORPHA:2162 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Intrauterine growth retardation, Hypoplasia of the... |
OMIM:617914 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Small hand, Plagiocephaly, Sandal gap, Clinodactyly, Microcephaly, Macrocephaly, Short stature, S... |
OMIM:618089 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia ... |
ORPHA:60040 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... |
OMIM:614833 |
| Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia, Agenesis of corpus callosum, Talipes equinovarus, Brachydac... |
OMIM:218340 |
| Clark-Baraitser Syndrome |
|
Sandal gap, Clinodactyly, Microcephaly, Brachycephaly, Dolichocephaly |
OMIM:617752 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... |
OMIM:256520 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Reduced cerebral white matter volume, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the... |
OMIM:608027 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Cerebral cortical atrophy, Broad thumb, Toe syndactyly, Flat occiput, Aplasia/Hypoplasia of the c... |
ORPHA:505237 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Postaxial polydactyly,... |
OMIM:258860 |
| Band Heterotopia |
|
Plagiocephaly, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Macrocephaly, Subcorti... |
OMIM:600348 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, To... |
OMIM:607932 |
| Kleefstra Syndrome 2 |
|
Microcephaly, Plagiocephaly, Growth delay |
OMIM:617768 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Agenesis of corpus callosum, Brachycephaly, Hydrocephalus, Macrocephaly, Short st... |
OMIM:109120 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Ventricular septal defect, Incre... |
ORPHA:1782 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microcephaly, Macrocephaly, Microphth... |
ORPHA:251038 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Cerebral white matter atrophy,... |
ORPHA:435638 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| 2Q23.1 Microdeletion Syndrome |
|
Sandal gap, Microcephaly, Brachycephaly, Hip dysplasia, Short stature, Clinodactyly of the 5th fi... |
ORPHA:228402 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Orofaciodigital Syndrome Viii |
|
Short stature, Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the... |
ORPHA:1352 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Microphthalmia, Hip dislocation... |
ORPHA:84 |
| Menkes Disease |
|
Metaphyseal spurs, Intrauterine growth retardation, Microcephaly, Brachycephaly, Metaphyseal wide... |
OMIM:309400 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Neuralgic Amyotrophy |
|
Short stature, Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Finger joint hypermobility, Dislocate... |
OMIM:620663 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Splenomegaly, Femur fracture, Osteopetrosis, Calvarial osteos... |
OMIM:259700 |
| Bardet-Biedl Syndrome 16 |
|
Short stature, Polydactyly |
OMIM:615993 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd f... |
OMIM:620073 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Plagiocephaly, Agenesis of corpus callosum, Brachycephaly, Dolichocepha... |
OMIM:615433 |
| Heart And Brain Malformation Syndrome |
|
Hand clenching, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Camptodacty... |
OMIM:616920 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Microphthalmia, Cavum septum pellucidum, Short stature, Clinodactyly of the 5th fin... |
OMIM:617306 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly |
ORPHA:99742 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Monosomy 13Q14 |
|
Finger syndactyly, Trigonocephaly, Intrauterine growth retardation, Hypoplasia of the corpus call... |
ORPHA:1587 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi... |
ORPHA:3103 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Narrow palm, Microcephaly, Short stature, Holoprosencephaly, Syndactyly |
ORPHA:1445 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebral cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Talipes equinovarus,... |
OMIM:617481 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Micromelia, Polymicrogyria, Cerebral calcification, Intrauterine grow... |
ORPHA:2671 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Postnatal growth retardation, Trigonocephaly, Agenesis of corpus callosum,... |
OMIM:243310 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Trigonocephaly, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphthal... |
OMIM:612530 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of cerebral white ma... |
ORPHA:99802 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Severe short stature, Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of ... |
ORPHA:2251 |
| Pfeiffer Syndrome |
|
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... |
OMIM:101600 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly |
ORPHA:404451 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Complete duplication of proximal pha... |
ORPHA:363417 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Copper beaten skull, Deep palmar crease, Brachydactyly, Genu varum, Short stature, Clinodactyly o... |
OMIM:619451 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Cerebellar vermis hypoplasia, Small hand, Trigonocephaly, Scaphocephaly, B... |
ORPHA:459061 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Brachydactyly, Macrocephaly |
ORPHA:313781 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard... |
OMIM:272440 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly, Brachycephaly |
OMIM:615985 |
| Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Slender metacarpals, Secondary microcephaly, Postnatal growth retardation, Mic... |
OMIM:620601 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... |
ORPHA:66529 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe clinodactyly, Toe syndactyly, Growth delay, Finger syndactyly, Short t... |
ORPHA:2308 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Polydactyly... |
OMIM:169400 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... |
OMIM:605282 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, 2-3 f... |
ORPHA:1692 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Elbow flexion contracture, Basal ganglia calcification, Second met... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Hypoplasia of the corpus callosum, Postax... |
OMIM:615996 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Abnormal circulating calcium concentration, Hypomagnesemia |
OMIM:248190 |
| Pseudodiastrophic Dysplasia |
|
Severe short stature, Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation,... |
OMIM:264180 |
| Anauxetic Dysplasia 3 |
|
Broad middle phalanx of finger, Severe short stature, Metaphyseal cupping, Plagiocephaly, Short m... |
OMIM:618853 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Telangiectasia, Microphthalmia, Foot p... |
OMIM:305600 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Arthrogryposis, Distal, Type 4 |
|
Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Single tra... |
OMIM:609128 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Microcephaly, Brachycephaly, ... |
ORPHA:1292 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polydactyly, Microphth... |
OMIM:619185 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger... |
ORPHA:251014 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Diaphyseal undertubul... |
ORPHA:175 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the cerebellum... |
ORPHA:93262 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... |
OMIM:617926 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Postnatal growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Severe... |
OMIM:241410 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Delayed puberty, Short st... |
ORPHA:1825 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... |
ORPHA:37042 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:309541 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Microphthalmia, Hypoplasia of the corpus callosum, Cerebellar hypo... |
OMIM:611961 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Cerebral atrophy, Mitral regurgitation, Arachnodactyly, Talipes equinovarus, Brachycephaly, Adduc... |
OMIM:615539 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia, Encephalocele... |
OMIM:614643 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Microcephaly, Brachycephaly, Brachydactyly, Clinodactyly... |
ORPHA:3306 |
| Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Microcephaly, Bilateral talipes equ... |
ORPHA:544469 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle... |
ORPHA:439822 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... |
ORPHA:370959 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Intrauterine growth retard... |
ORPHA:254346 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:613730 |
| Filippi Syndrome |
|
Severe short stature, Finger syndactyly, Frontal bossing, Intrauterine growth retardation, Bilate... |
ORPHA:3255 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Postnatal growth retardation, ... |
OMIM:614222 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Cerebral atrophy, Secondary microcephaly, Postnatal growth retarda... |
OMIM:179613 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Hypoplasia of the corpus callosum, Single transverse palmar crease, Microcephaly, M... |
OMIM:614105 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Impulsivity, Attention deficit hyperactivity disorder, Contracture of t... |
OMIM:620141 |
| ERI1-related disease |
|
Tricuspid regurgitation, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limit... |
OMIM:608739 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Triphal... |
OMIM:604757 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Macrocephaly, Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Pulmonic stenosis, Optic ... |
ORPHA:137634 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Prominent occiput, Postaxial polydactyly, Brachydactyly, Hypoplasia... |
OMIM:617895 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Hydrocephalus, Macrocephaly, Agenesis of cerebellar vermis, Short... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... |
OMIM:619879 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... |
OMIM:114290 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Hypoplasia of the corpus callosu... |
OMIM:206900 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Broad thumb, Flat occiput, Overlapping toe, Intrauterine growth retardation, Hypoplasia of the co... |
OMIM:617452 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Synostosis of carpal bones, Finger syndactyly, Moderate postnatal growth re... |
ORPHA:1005 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases |
OMIM:618652 |
| Joubert Syndrome 7 |
|
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Genu valgum, Encephalocele, Pos... |
OMIM:611560 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Intrauterine growth retardation, Prominent occiput, Pulmonic stenosis, Bra... |
OMIM:220210 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... |
OMIM:613684 |
| Galloway-Mowat Syndrome 4 |
|
Plagiocephaly, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Primary microcephaly, Sho... |
OMIM:617730 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Abnormal digit morphology, Palmoplantar cutis laxa, Microcephaly, Brachycephaly, Short stature, S... |
OMIM:268850 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia |
OMIM:618805 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Microcephaly, Microphthalmia, Short stature, Proximal placement of thumb |
OMIM:617883 |
| Al Kaissi Syndrome |
|
Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Hypoplas... |
OMIM:617694 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Scaphocephaly, Single transverse palmar crease, Turricep... |
OMIM:272950 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos |
ORPHA:77299 |
| Holt-Oram Syndrome |
|
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... |
ORPHA:392 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Absent septum p... |
OMIM:609053 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Low-to-normal bl... |
OMIM:241200 |
| Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... |
ORPHA:2369 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem... |
OMIM:248700 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Short stature, Microcephaly, Brachycephaly |
ORPHA:93950 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Abnormal palmar derm... |
ORPHA:2728 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Microcephaly, Intrauterine growth retardation, Brachycephaly |
OMIM:620688 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Frontorhiny |
|
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... |
ORPHA:391474 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... |
ORPHA:85167 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth ... |
ORPHA:2714 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Achondrogenesis, Type Ii |
|
Abnormally large globe, Disproportionate short-limb short stature, Broad long bones, Short tubula... |
OMIM:200610 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia |
OMIM:602361 |
| Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Short 1st metacarpal, Relative macrocephaly, Short first metatarsal... |
OMIM:619135 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Brac... |
OMIM:618603 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Small hand, Type II lissencephaly, Postnatal growth retardation, Genu valgum, Abnormal basal gang... |
ORPHA:300570 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Acetabular dysplasia, Hip contracture, W... |
ORPHA:1143 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Parietal foramina, Intrauterine growth retardation, Calvarial skull... |
OMIM:613451 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Plagiocephaly, Frontal bossing, Elbow flexion contracture, Intrauterine growth retard... |
ORPHA:371364 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Osteopenia, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Talipes equinovarus, Bipartite calcaneus, Brachycephaly, Macr... |
OMIM:608545 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Um... |
OMIM:300166 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal calvaria morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of fin... |
ORPHA:1323 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Pachygyria, Frontal bossing, Intrauterine growth retardation, Hypoplasia of the... |
OMIM:617729 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Plagiocephaly, Polymicrogyria, Hypoplasia of the brainstem, Umbilical hernia, A... |
ORPHA:500159 |
| Malan Overgrowth Syndrome |
|
Plagiocephaly, Optic disc hypoplasia, Slender long bone, Hypoplasia of the brainstem, Scaphocepha... |
ORPHA:420179 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Severe short stature, High iliac wing, Coarse metaphyseal trabecularizatio... |
ORPHA:2780 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Brachycephaly, Short corpus callosum |
OMIM:619972 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Brachydactyly... |
OMIM:618265 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... |
OMIM:617866 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| 9Q21.13 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Postnatal growth retardation, Polydactyly, Syringomyel... |
ORPHA:531151 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... |
ORPHA:3447 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Brachycephaly... |
OMIM:218350 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand,... |
ORPHA:369891 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... |
OMIM:304120 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Sandal gap, Cranial hyperostosis, Tethered cord |
OMIM:612918 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Joint contracture of the hand, Hypoplasia of the pons, Cerebral atrophy, Pachygyria, Postnatal gr... |
OMIM:612513 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Pearson Syndrome |
|
Cardiomyopathy, Hypomagnesemia, Hypocalcemia, Cardiac conduction abnormality, Hypokalemia, Hypoph... |
ORPHA:699 |
| Achard Syndrome |
|
Arachnodactyly, Brachycephaly, Broad skull |
OMIM:100700 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Plagiocephaly, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasi... |
OMIM:617822 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Simplified gyral pattern, Brachycephaly, Primary microcephaly, Clinodactyly of the 5th finger, Op... |
OMIM:618828 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hypotension, Hyperkalemia |
OMIM:264350 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Skull asymmetry, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Micr... |
OMIM:614701 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Severe postnatal growth retardation, Microcephaly, Dolichocephaly, Micr... |
ORPHA:2399 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Delayed puberty, Hypertension, Parietal foramina |
ORPHA:52022 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomegaly, Osteopetrosis,... |
OMIM:259710 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Advanced ossification of carpal ... |
OMIM:615777 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Linear Nevus Sebaceus Syndrome |
|
Plagiocephaly, Growth delay, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Cerebral... |
ORPHA:2612 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Microcephaly, Intrauterine growth retardation, Brachycephaly, Postnatal growth retardation |
OMIM:615419 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, 2-3 toe s... |
OMIM:264480 |
| Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Plagiocephaly, Cerebral atrophy |
OMIM:618008 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Severe post... |
OMIM:615663 |
| Silver-Russell Syndrome 3 |
|
Small hand, Postnatal growth retardation, Short stature, Clinodactyly of the 5th finger, Relative... |
OMIM:616489 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Postnatal growth retardation, Microphthalmia, Micro... |
OMIM:304050 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Polymicrogyria, Hypoplasia of the brainstem, Umbilic... |
OMIM:617751 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Dolichocephaly, Finger syndactyly |
ORPHA:2475 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Bowing of the long bone... |
ORPHA:2097 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Calvarial skull defect, Portal hypertension, Brachyda... |
OMIM:616589 |
| Fragile X Syndrome |
|
Recurrent hand flapping, Mitral valve prolapse, Joint hypermobility, Hyperactivity, Self-biting |
OMIM:300624 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... |
OMIM:257850 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Microphthalmia, Holoprose... |
OMIM:146510 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Cerebral cortical atrophy, Microcephaly, Brachycephaly, Progressive microcephaly, Thin corpus cal... |
OMIM:620240 |
| Fetal Trimethadione Syndrome |
|
Microcephaly, Intrauterine growth retardation, Brachycephaly, Bilateral single transverse palmar ... |
ORPHA:1913 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Toe syndactyly, Polymicrogyria, Calvarial skull defect, Periventricular le... |
OMIM:100300 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Temporal cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Brachy... |
OMIM:618862 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons, Macrocephaly |
OMIM:607313 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Intrauterine growth retardation, Pr... |
ORPHA:2311 |
| Lujan-Fryns Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Arachnodactyly, Brachycephaly... |
ORPHA:776 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Brachycephaly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Contractural Arachnodactyly, Congenital |
|
Ulnar deviation of finger, Elbow flexion contracture, Scaphocephaly, Limited elbow extension, Mit... |
OMIM:121050 |
| Atelosteogenesis Type Ii |
|
Elbow dislocation, Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, P... |
ORPHA:56304 |
| Majeed Syndrome |
|
Osteomyelitis, Splenomegaly, Increased susceptibility to fractures, Synovitis, Hepatomegaly, Incr... |
ORPHA:77297 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Microcephaly, Short stature, Tethered ... |
OMIM:617660 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly, Microphthalmia |
OMIM:614526 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Intrauterine growth r... |
OMIM:616897 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... |
ORPHA:2712 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Scaphocephaly, Postaxial polydactyly, 2-3 toe syndact... |
OMIM:614099 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial ... |
OMIM:277170 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Short femur, Preaxial hand polyda... |
OMIM:134780 |
| Kury-Isidor Syndrome |
|
Growth delay, Finger syndactyly, Frontal bossing, Talipes equinovarus, Brachycephaly, Brachydacty... |
OMIM:619762 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Bilateral single transverse palmar creases, Arrhythmia, Microphthalmi... |
ORPHA:3191 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... |
OMIM:615994 |
| Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Clinodactyly, Postnatal growth retardation, Hip dislocatio... |
ORPHA:96148 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Microcephaly, Microphthalmia, Short stature, Biparietal narrowing |
ORPHA:1915 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Toe syndactyly, Finger syndactyly, Cerebral calcification, Intrauterine growth retardation, Arach... |
ORPHA:73246 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... |
OMIM:616538 |
| Houge-Janssens Syndrome 3 |
|
Plagiocephaly, Hypoplasia of the brainstem, Umbilical hernia, Hypoplasia of the corpus callosum, ... |
OMIM:618354 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Plagiocephaly, Intrauterine growth retardation, Periventricular leukomalacia, Acetabular dysplasi... |
OMIM:619833 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Cerebral atrophy, Overlapping toe, ... |
ORPHA:464738 |
| Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Clinodactyly, Periventricular leukomalacia, Brachydactyly, Short stature, Frontal ... |
OMIM:617808 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcephaly, B... |
ORPHA:1236 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Intrauterine growth retardation, Bilateral single transverse palma... |
ORPHA:1786 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, 2-3 toe syndactyly... |
OMIM:236500 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage, Clubbing of fingers |
ORPHA:335 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Methylcobalamin Deficiency Type Cble |
|
Clinodactyly, Hypoplasia of the brainstem, Postnatal growth retardation, Intrauterine growth reta... |
ORPHA:2169 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Acrofrontofacionasal Dysostosis |
|
Short distal phalanx of finger, Cerebral cortical atrophy, Broad thumb, Abnormal epiphysis morpho... |
ORPHA:1784 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... |
OMIM:620098 |
| Hoxha-Aliu Syndrome |
|
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... |
OMIM:620662 |
| Triploidy |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Hy... |
ORPHA:3376 |
| Joubert Syndrome 27 |
|
Frontal bossing, Polydactyly |
OMIM:617120 |
| Robinow-Sorauf Syndrome |
|
Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux... |
OMIM:180750 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Brachycephaly, M... |
ORPHA:1791 |
| Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Intrauterine growth ret... |
ORPHA:193 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... |
ORPHA:53 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short toe, Type E brachydactyly, Arrhythmia, Brachycephaly, Short stature, Short fourth metatarsa... |
OMIM:600430 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Polymicrogyria, Overlapping ... |
OMIM:244300 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Holoprosencephaly, Microphthalmia, Anophtha... |
OMIM:610829 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Turricephaly, Brachydactyly, Hip dysp... |
ORPHA:710 |
| Joubert Syndrome 2 |
|
Abnormal corpus callosum morphology, Postaxial foot polydactyly, Hypoplasia of the brainstem, Enc... |
OMIM:608091 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... |
OMIM:615503 |
| Fraser Syndrome 1 |
|
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndacty... |
OMIM:219000 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, Brachycephaly, Hypoplasia of the corpus callosum |
OMIM:618859 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicrogyria, Overlap... |
OMIM:618494 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Macr... |
ORPHA:1452 |
| Laurence-Moon Syndrome |
|
Short stature, Abnormality of the hand, Polydactyly |
OMIM:245800 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Long fingers, Microphthalmia, Dan... |
OMIM:156610 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
ORPHA:89938 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly, Syndactyly |
ORPHA:1942 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Slender finger, Cerebral atrophy, Pachygyria, Seco... |
OMIM:251300 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure, Microcephaly, Microphthalmia, Short stature, Upper li... |
ORPHA:2505 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Dolichocephaly, Microphthalmia |
OMIM:167730 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
2-3 toe cutaneous syndactyly, Brachycephaly, Frontal bossing, Prominent fingertip pads |
OMIM:615828 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Severe short stature, Short distal phalanx of finger, Frontal bossing, Hypoplasia of the corpus c... |
OMIM:615789 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, Agenesis of corpus cal... |
ORPHA:3472 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... |
OMIM:217085 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Increased susceptibili... |
ORPHA:77261 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fifth metatarsal, Increased carrying angle, Plagiocephaly, Tricuspid regurgitation, Mitral ... |
OMIM:261990 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Multiple suture craniosynostosis, Umbilical her... |
ORPHA:567 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Postnatal growth retardation, F... |
OMIM:608940 |
| Developmental And Epileptic Encephalopathy 110 |
|
Microcephaly, Small hand, Hypoplasia of the corpus callosum, Posterior plagiocephaly |
OMIM:620149 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Agenesis of corpus callosum, T... |
OMIM:180849 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... |
OMIM:259600 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Absent septum... |
OMIM:612651 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Relative macrocephaly, Hypo... |
OMIM:616300 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... |
OMIM:219800 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Plagiocephaly, Clinodactyly, Intrauterine growth retardation, Prominent oc... |
OMIM:617360 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Cloacal Exstrophy |
|
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... |
ORPHA:93929 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly, Hydrocephalus |
OMIM:612247 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Brachydactyly, Short long bone |
OMIM:615633 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:257910 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Micro... |
ORPHA:562528 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Prominent fingertip pads, Single transverse palmar crease, Cerebellar hypoplasia, ... |
OMIM:619188 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microcephaly, Cutane... |
OMIM:600987 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Hypo... |
ORPHA:494344 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Chopra-Amiel-Gordon Syndrome |
|
Postnatal growth retardation, Microcephaly, Brachycephaly, Macrocephaly, Short stature |
OMIM:619504 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Aplasia/Hypoplasia of t... |
ORPHA:568 |
| Mulibrey Nanism |
|
Cardiomegaly, Thickened cortex of long bones, Pericardial constriction, Hepatomegaly, Myocardial ... |
OMIM:253250 |
| 2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm... |
ORPHA:1001 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Postnatal growth retardation, Intraut... |
OMIM:192350 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Dysplasia of the femoral head, Agenesis of corpus cal... |
OMIM:616854 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Branchial cyst, Single transverse palmar crease, Microcephaly, Severe postnata... |
ORPHA:435938 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Tachycardia, Intracra... |
ORPHA:449285 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Plagiocephaly, Sandal gap, Brachycephaly, Macrocephaly, Clinodactyly of the 5th finger, Frontal b... |
OMIM:618430 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Umbilical hernia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microc... |
ORPHA:261652 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Dense ... |
OMIM:252900 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Microspherophakia, Broad phalanges of the hand, Mitral regurgitation, Broa... |
OMIM:277600 |
| Cebalid Syndrome |
|
Plagiocephaly, Platystencephaly, Polymicrogyria, Turricephaly, Brachycephaly, Dolichocephaly |
OMIM:618774 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Microphthalmia |
OMIM:613456 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Microcephaly, 2-3 finger syndactyly, ... |
OMIM:603467 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Single transverse palmar crease, Agenesis of corpus callosum, 2-3 toe syndactyl... |
OMIM:616449 |
| Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Agenesis of corpus callosum, Turricephaly, Brachycephaly, Long f... |
OMIM:613174 |
| Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short distal phalanx of the 5th ... |
OMIM:180860 |
| Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Frontal bossing, Abnormal hip bone morphology, Brachyc... |
ORPHA:1488 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Growth delay, Finger clinodactyly, Preaxial polydactyly, Aplasia/Hy... |
ORPHA:2754 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Clinodactyly of the 2nd finger, Finger syndactyly, Aplasia/Hypoplasia of the corpu... |
ORPHA:93932 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Broad thumb, Toe syndactyly, Plagiocepha... |
OMIM:619720 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Hemiatrophy, St... |
OMIM:302960 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re... |
ORPHA:96334 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Plagiocephaly, Spina bifida, Dolichocephaly, Partial agenesis of the corpus callosum, Thin corpus... |
OMIM:619480 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... |
OMIM:609638 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Cardiomyopathy, Short metacarpal, Microphthalmia, Hammertoe, Heart... |
ORPHA:773 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly |
OMIM:612840 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Hypoplasia of the olfactory bulb, Patellar hypoplasia, Preaxial ... |
ORPHA:1827 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Charge Syndrome |
|
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Postnatal growth retardation, Intrauter... |
ORPHA:138 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-5 finge... |
ORPHA:468631 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Plagiocephaly, Arachnodactyly, Brachycephaly, Clinodactyly of the 5th finger |
OMIM:619910 |
| Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Scaphocephaly, Clinodactyly of the 5th finger, Frontal bossing, Pulmonic stenosis |
OMIM:619149 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia |
OMIM:619053 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... |
OMIM:601186 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicrogyria, Preaxi... |
ORPHA:2211 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Midline brain calcifications, Pachygyria, Intrauterine growth reta... |
OMIM:247200 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Calvarial skull defect, Wi... |
ORPHA:2052 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
| Phakomatosis Pigmentokeratotica |
|
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Turricephaly, Talipes equinovarus, Intraventricular hemorrhage, Microcephaly, Hydr... |
OMIM:613603 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Umbilical hernia, Polydactyly, Telangiectasia, Hypoplasia of the fovea, Hydrocephal... |
ORPHA:93400 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum, 2-3 toe syndactyly, Brachycephal... |
OMIM:218000 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Macrocephaly, Agenesis of corpus callosum, Telangiectasia, Brachycephaly, Hydro... |
OMIM:612582 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Small hand, Toe syndactyly, Plagiocephaly, Frontal bossing, Secondary microceph... |
OMIM:610759 |
| Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
| 19P13.13 Microdeletion Syndrome |
|
Sandal gap, Clinodactyly, Hypoplasia of the frontal lobes, Syringomyelia, Brachycephaly, Corpus c... |
ORPHA:357001 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Plagiocephaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Cereb... |
ORPHA:500055 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Joint contracture of the hand, Secondary microcephaly, Ulnar deviatio... |
ORPHA:456312 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the palmar creases, Rieger anomaly, Microcephaly, Brachycephaly, Long fingers, Bup... |
ORPHA:521445 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly, Microphthalmia |
OMIM:618727 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... |
OMIM:212780 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cerebellar hypoplasia, Microcephaly, Plagiocephaly, Polymicrogyria |
OMIM:618731 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Cerebral calci... |
ORPHA:1798 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly, Sandal gap |
OMIM:615516 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... |
OMIM:253800 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis |
ORPHA:94089 |
| Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:243605 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Plagiocephaly, Broad hallux, Anterior plagiocephaly, Microcephaly, Left unicoronal synostosis, Sh... |
OMIM:614749 |
| Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Microce... |
ORPHA:2980 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... |
OMIM:207410 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... |
OMIM:610828 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Single transverse palmar crease, Polydactyly, Microcephaly, Brachydactyly |
OMIM:618950 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Microcephaly, Flat occiput, Simplified gyral pattern |
OMIM:152950 |
| Familial Exudative Vitreoretinopathy |
|
Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphtha... |
ORPHA:891 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Corticospinal tract hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Microc... |
ORPHA:819 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atrophy, Myelomeni... |
OMIM:311200 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Osteoporosis |
OMIM:235200 |
| Cockayne Syndrome Type 1 |
|
Basal ganglia calcification, Hypertension, Anophthalmia, Postnatal growth retardation |
ORPHA:90321 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inferior cerebellar vermis hypoplasia, Overlapping toe, Microphthalmia, Short stature, Dolichocep... |
OMIM:618571 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Disproportionate short-limb short stature, Calvarial hyperostosis, Long hallux, Cone-shaped epiph... |
OMIM:101800 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Postnatal growth retardation, Single transverse palmar crea... |
OMIM:614800 |
| Trisomy 9P |
|
Bilateral single transverse palmar creases, Microcephaly, Brachycephaly, Brachydactyly, Clinodact... |
ORPHA:236 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Frontal bossing, Aplasia of the proximal phalanges of the hand, Hypoplasia of ... |
ORPHA:2256 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Postnatal growth retardation, Hand muscl... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Postnatal growth retardation, Hand muscl... |
ORPHA:363958 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Broad distal phalan... |
OMIM:245600 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Joint hypermobility, Ventricular septal d... |
OMIM:618798 |
| Noonan Syndrome 13 |
|
Plagiocephaly, Clinodactyly, Overlapping toe, Limited elbow extension, Mitral regurgitation, Cubi... |
OMIM:619087 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Umbilical herni... |
ORPHA:915 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cerebral atrophy, Scaphocephaly, Microcephaly, Hydrocephalus, Cranial asymmetry, Short stature, G... |
OMIM:614886 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Talipes equinovaru... |
OMIM:219150 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Microspherophakia, Broad phalanges of the hand, Congestive heart failure, ... |
OMIM:608328 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... |
OMIM:613150 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Pagod Syndrome |
|
Encephalocele, Microcephaly, Arrhythmia, Spina bifida, Short stature, Meningocele, Sudden cardiac... |
ORPHA:991 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Clinodactyly, Talipes equinovarus, Brachycephaly, Frontal bossing |
OMIM:616789 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Adnp Syndrome |
|
Broad thumb, Plagiocephaly, Sandal gap, Broad hallux, Cerebral atrophy, Umbilical hernia, Trigono... |
ORPHA:404448 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Microcephaly, Plagiocephaly |
ORPHA:77300 |
| Familial Hypoaldosteronism |
|
Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem... |
ORPHA:427 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Jacobsen Syndrome |
|
Trigonocephaly, Intrauterine growth retardation, Microcephaly, Macular hypoplasia, Brachydactyly,... |
OMIM:147791 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Radial deviation of the hand, Hip contracture, Talipes equinovarus, Microcephaly, Brachycephaly, ... |
OMIM:301041 |
| Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Trigonocephaly, Overlapping toe, Intrauterine growth reta... |
OMIM:605039 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... |
OMIM:239850 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Cerebral atrophy, Intrauterine growth retardation, Hypoplasia of the ... |
OMIM:614576 |
| Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Narrow palm, Agenesis of corpus callosum, Cerebellar hypoplasia, Brachycephaly, Ul... |
OMIM:619435 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Brachycephaly, Polymicrogyria |
OMIM:612379 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Xq28 (MECP2) duplication |
|
Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum |
DECIPHER:45 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... |
ORPHA:2556 |
| Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Short sternum, Brachycephaly, Large hands, Macrocephaly... |
ORPHA:2563 |
| Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Talipes equinovarus, Microcephaly, Abnormal cerebral white matter morphology, Shor... |
OMIM:222748 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Sandal gap, Microcephaly, Brachycephaly, Abnormal cerebral white matter morphology, S... |
OMIM:618885 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:2510 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly... |
ORPHA:3224 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Microcephaly, Narrow greater sciatic notch, Brachycephaly, Ulnar deviation of the hand, Metaphyse... |
OMIM:263210 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Lig4 Syndrome |
|
Growth delay, Microcephaly, Brachycephaly, Telangiectasia of the skin, Clinodactyly of the 5th fi... |
ORPHA:99812 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Hyperammonemi... |
OMIM:620300 |
| Myhre Syndrome |
|
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial devia... |
OMIM:139210 |
| Oliver Syndrome |
|
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... |
ORPHA:2920 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Clinodactyly, Intrauterine growth retardation,... |
OMIM:311900 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Hypoplasia of the corp... |
ORPHA:401973 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... |
OMIM:212138 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the radius, Hypopl... |
ORPHA:3186 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Focal T2 hyperintense basal ganglia lesion... |
ORPHA:70472 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Anophthalmia, Hypoplasia of ... |
OMIM:615636 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Broad distal phalanx of finger, Enlarged interphalangeal joints, Palmar edema, Abnormality of the... |
ORPHA:2988 |
| 2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Optic nerve hypoplasia, Sandal gap, Camptodactyly of fing... |
ORPHA:261349 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic nerve hypoplasia, Abnormally large globe, Hypoplasia of the pons, Plagiocephaly, Hypoplasia... |
OMIM:300749 |
| Erdheim-Chester Disease |
|
Polydipsia, Abnormal pericardium morphology, Osteomyelitis, Abnormal aortic valve morphology, Inc... |
ORPHA:35687 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Aplasia/Hypoplasia... |
ORPHA:1647 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Hypotension, Tachycardia |
ORPHA:79155 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal basal ganglia morphology, Cerebellar vermis hypoplasia, Cone-sh... |
ORPHA:397715 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly, Short foot |
ORPHA:228399 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Dyspha... |
OMIM:252930 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Macrocephaly, Microphthalmia, Clinodactyly of the ... |
ORPHA:65286 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures |
OMIM:239000 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Crouzon Syndrome |
|
Multiple suture craniosynostosis, Turricephaly, Cerebellar hypoplasia, Brachycephaly, Hydrocephal... |
ORPHA:207 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... |
ORPHA:3320 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Frontal bossing, Overlapping toe, Absent septum pellucidum, Hypoplasia of the c... |
OMIM:613884 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Short stature |
ORPHA:66629 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Cerebral cortical atrophy, Abnormally large globe, Plagiocephaly,... |
OMIM:239300 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Plagiocephaly, Frontal bossing |
OMIM:618330 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hand clenching, Clubbing of toes, Cerebellar vermis hypoplasia, Tethered cord, Elbow dislocation,... |
OMIM:620083 |
| X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Brachycephaly, Growth delay |
ORPHA:85290 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Brachycephaly |
ORPHA:1173 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... |
OMIM:613573 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the h... |
OMIM:151050 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... |
ORPHA:3258 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar hypoplasia, Microcephaly, Clinodactyly, Syndactyly |
OMIM:618087 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
2-3 toe cutaneous syndactyly, Microcephaly, Brachycephaly, Macrocephaly, Clinodactyly of the 5th ... |
OMIM:300260 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... |
ORPHA:2334 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly, Short stature |
OMIM:618874 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Oculodentodigital Dysplasia |
|
Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joint contracture of the 5th finge... |
OMIM:164200 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Frontal bossing, Intrauterine growth retardation, Spina bifida oc... |
ORPHA:52 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
| Neurofibromatosis, Type I |
|
Tibial pseudarthrosis, Genu valgum, Spina bifida, Hydrocephalus, Macrocephaly, Short stature, Aqu... |
OMIM:162200 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm... |
ORPHA:763 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Microphthalmia |
OMIM:302350 |
| 49,Xxxxy Syndrome |
|
Pulmonary embolism, Elbow dislocation, Abnormal epiphysis morphology, Hypoplasia of the corpus ca... |
ORPHA:96264 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Dysphagia, Restlessness, Paroxysmal bursts of laughter |
ORPHA:391428 |
| Atelis Syndrome 2 |
|
Clinodactyly, Single transverse palmar crease, Microcephaly, Vitreous hemorrhage, Microphthalmia,... |
OMIM:620185 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... |
OMIM:613001 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Short stature, Craniosynostosis, Brachycephaly, Frontal bossing |
ORPHA:314575 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum |
OMIM:300958 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Frontal bossing, Intrauteri... |
ORPHA:1225 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Clinodactyly, Tricuspid regurgitation, Intrauterine growth retardat... |
OMIM:618460 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| 3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal hip bone morphol... |
ORPHA:7 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Femoral bowing, Turricephaly, Arachnodactyly, Brachycephaly, Elbow ankyl... |
ORPHA:83 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Poems Syndrome |
|
Visceromegaly, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomeg... |
ORPHA:2905 |
| Apert Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Brachyturricephaly, Frontal bossing, ... |
ORPHA:87 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Brachycephaly, Hydrocephalus, Ma... |
OMIM:609757 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short thumb, Hypoplasia of the corpus callosum, Syringomyelia, Brachycephaly, Cerebral white matt... |
OMIM:616728 |
| Incontinentia Pigmenti |
|
Cerebral cortical atrophy, Deviation of finger, Finger syndactyly, Congestive heart failure, Camp... |
ORPHA:464 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Plagiocephaly, Clinodactyly, Hypoplasia... |
OMIM:213300 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Secondary microcephaly, Ulnar deviation of the 2nd finger, Postnatal growth retardation, Ulnar de... |
OMIM:616263 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Cerebellar vermis hypoplasia, Sandal gap, Secondary microcephaly, Postnatal growth retardation, H... |
OMIM:156200 |
| Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Short s... |
ORPHA:2332 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Plagiocephaly, Genu valgum, Delay... |
OMIM:620099 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Plagiocephaly, Prominent fingertip pads, Clinodactyly... |
OMIM:305450 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of the olfactory bulb, Anophthalmia, Microphthalmia |
ORPHA:2250 |
| 20Q11.2 Microduplication Syndrome |
|
Trigonocephaly, Limited elbow extension, Microcephaly, Deep palmar crease, Brachycephaly, Severe ... |
ORPHA:363659 |
| Branchiooculofacial Syndrome |
|
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Postnatal growth retardation, ... |
OMIM:113620 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Intrauterine gro... |
ORPHA:217346 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Inappropriate laughter, Osteopetrosis,... |
OMIM:618476 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Hypertrophic cardiomyopathy, Overlapping toe, Overla... |
OMIM:619383 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Microcephaly, Brachydactyly, Short stature, Craniosynostosis, Growth delay |
ORPHA:457193 |
| Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Brachycephaly, Microphthalmia,... |
OMIM:201180 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Parietal for... |
OMIM:603671 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalan... |
OMIM:218600 |
| Hallermann-Streiff Syndrome |
|
Small hand, Congestive heart failure, Proportionate short stature, Cerebellar hypoplasia, Microce... |
ORPHA:2108 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Short femoral neck, Flared metaphysis, Irregular epiphyses,... |
OMIM:610442 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... |
OMIM:142900 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe, 2-3 fin... |
ORPHA:158687 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Hypoplasia of the pons, Talipes equinovarus, Hip d... |
OMIM:619293 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Postnatal growth retardation, Microcephaly, Hypoplasia of the radius, ... |
OMIM:610832 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Microphthalmia, Talipes equinovarus, Severe postnatal growth retardation, N... |
ORPHA:35173 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... |
ORPHA:2166 |
| German Syndrome |
|
Short stature, Dolichocephaly, Brachycephaly, Camptodactyly of finger |
ORPHA:2077 |
| Gaucher Disease |
|
Aortic valve calcification, Osteopenia, Osteolysis, Abnormal pericardium morphology, Abnormal hea... |
ORPHA:355 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... |
OMIM:300960 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Cerebral atrophy, Microcephaly, Brachycephaly, Frontal bossing, Hip disloca... |
OMIM:608776 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly |
OMIM:149000 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Growth delay, Genu valgum, Microcephaly, Hyperintensity of cerebral whit... |
OMIM:617798 |
| Craniofrontonasal Syndrome |
|
Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Umbilical hernia, ... |
OMIM:304110 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Microphthalmia, Microcephaly, Absent radius, Short stature, Complete d... |
OMIM:600901 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Mitral valve prolapse... |
ORPHA:449291 |
| Duane Retraction Syndrome |
|
Plagiocephaly, Optic disc hypoplasia, Preaxial hand polydactyly, Aniridia, Talipes equinovarus, A... |
ORPHA:233 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Intrauterine gr... |
ORPHA:1052 |
| Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Trigonocephaly, Calcification of falx cerebri, Polydactyly, Hydroc... |
ORPHA:77301 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Mercury Poisoning |
|
Hypokalemia, Tachycardia, Hypotension, Hypertension |
ORPHA:330021 |
| Smith-Magenis Syndrome |
|
Abnormal forearm morphology, Brachycephaly, Brachydactyly, Short stature, Broad palm, Short palm |
OMIM:182290 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Hepatosplenomegaly, Splenomegaly, Osteopetrosis, Decreased osteoclast count... |
OMIM:259720 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Arachnodactyly, Bowing of the long bones, Microcephaly, Pulmonary arteri... |
OMIM:614437 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Skull asymmetry, Turricephaly, Brachycephaly, Short stature, Cranio... |
OMIM:601853 |
| Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Plagiocephaly, Intrauterine growth retardation, Hypoplasia of the ... |
ORPHA:363528 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Intrauterine growth retardation, Scaphocephaly, Portal hypertension, Microcephaly, Se... |
OMIM:620005 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture o... |
OMIM:619562 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Abnormal m... |
ORPHA:284160 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ischemic stroke, Portal hypertension, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
| Acrocardiofacial Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Intrauteri... |
ORPHA:2008 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotyp... |
OMIM:617600 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia involving... |
OMIM:308050 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Slender long bone, Thin calvarium, Tibial bowing, Flexion contrac... |
OMIM:601812 |
| Rubinstein-Taybi Syndrome |
|
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M... |
ORPHA:783 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Agenesi... |
OMIM:210710 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Polymicrogyria... |
OMIM:616546 |
| Saethre-Chotzen Syndrome |
|
Broad thumb, Plagiocephaly, Finger syndactyly, Bilateral single transverse palmar creases, Brachy... |
ORPHA:794 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad hallux, Clinodactyly, Oxycephaly, Tr... |
OMIM:614188 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Hemimegalencephaly, Cranial asymmetry, Abnormal finger morphology, Short stature, A... |
OMIM:163200 |
| Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial de... |
OMIM:249000 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Trigonocephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Arachnodactyly, Microcephaly, Brachycephaly, Growth delay, Flat occiput |
ORPHA:2707 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Microcephaly, Microphthalmia, Partial agenesis of the corpus callosum,... |
OMIM:234050 |
| Charge Syndrome |
|
Bifid femur, Short thumb, Umbilical hernia, Postnatal growth retardation, Unilateral microphthalm... |
OMIM:214800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:236670 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... |
OMIM:305400 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Microcephaly, Plagiocephaly, Brachydactyly, Tapered finger |
OMIM:619680 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Growth delay, Syndactyly |
OMIM:616006 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Syndactyly, Microphthalmia, Camptodactyly, Growth delay, Short... |
OMIM:614230 |
| Distal Deletion 3P |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Brachycephaly, Postaxial hand po... |
ORPHA:1620 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Ventricular tac... |
OMIM:300952 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Short thumb, Preaxial hand polydactyly, Microphthalmia, Partial duplication of thum... |
OMIM:227646 |
| Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... |
OMIM:600145 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Syndactyly |
OMIM:615631 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Microphthalmia, Microcephaly, Absent radius, Short stature, Complete d... |
OMIM:227650 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Spondylo-Ocular Syndrome |
|
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... |
ORPHA:85194 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Finger clinodactyly, Camptodactyly of f... |
ORPHA:306542 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Severe short stature, Ulnar deviation of finger, Plagiocephaly, Finger syndactyly, Camptodactyly ... |
ORPHA:2215 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Brachyturricephaly, Hallux varus, Sho... |
ORPHA:93260 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Cardiomyopathy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, B... |
OMIM:217980 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Finger syndactyly, Camptodactyly of finger, Microcephaly, Craniosynostosis |
ORPHA:178303 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Microphthalmia, Microcephaly, Absent ... |
OMIM:227645 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Severe short stature, Metaphyseal cupping, Hip contracture, Bowing of the long bones, Metaphyseal... |
OMIM:156400 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebral hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Agenesis of c... |
OMIM:257300 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Plagiocephaly, Patellar hypoplasia, Abnormal periventricular white matter morphology, ... |
ORPHA:495818 |
| Frank-Ter Haar Syndrome |
|
Abnormally large globe, Growth delay, Flared metaphysis, Hypoplasia of the corpus callosum, Bowin... |
OMIM:249420 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Osteopenia, Abnormal heart valve morphology, Ventricular septal defect, Ca... |
ORPHA:363705 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus,... |
ORPHA:95699 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Clinodactyly, Telangiectasia, Brachycephaly, Decreased head circumference, Hip dys... |
ORPHA:247262 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Growth delay, Absent sept... |
ORPHA:96147 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Dengue Fever |
|
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia |
ORPHA:99828 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... |
ORPHA:542323 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Abnormality of the wrist, Abnormal femur morphology, Abnormal fibula morphology, H... |
ORPHA:2063 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, ... |
OMIM:615471 |
| Lig4 Syndrome |
|
Telangiectasia, Clinodactyly of the 5th finger, Brachycephaly, Microcephaly |
OMIM:606593 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Intrauterine growth retardation, Microcephaly, Brac... |
ORPHA:364577 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density |
ORPHA:902 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
OMIM:193220 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Abnorm... |
ORPHA:2095 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Elbow dislocation, Brachydactyly, Postaxial hand polydactyly, Short stature, Clino... |
ORPHA:2916 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Hydrocephalus, Microphthalm... |
ORPHA:3301 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the olfactory bulb, Plagiocephaly, Clinodactyly of the 2nd finger, Prominent finger... |
ORPHA:251061 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly |
ORPHA:42 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Post... |
ORPHA:457284 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Limited hip movement, Limited elbow movement, Cardiomegaly, Dysph... |
ORPHA:268 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| Neurofaciodigitorenal Syndrome |
|
Plagiocephaly, Abnormal distal phalanx morphology of finger, Intrauterine growth retardation, Bra... |
ORPHA:2673 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Slender finger, Plagiocephaly, Clinodactyly, Short finger, Single transverse palmar crease, Arach... |
OMIM:615656 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypotension, Hypertension |
ORPHA:178478 |
| Ring Chromosome 7 Syndrome |
|
Short 5th finger, Slender finger, Small hand, Cerebral cortical atrophy, Plagiocephaly, 3-4 toe s... |
ORPHA:1449 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Microcephaly, Anophthalmia, Microphthalmia |
ORPHA:2526 |
| Desanto-Shinawi Syndrome |
|
Brachycephaly, Hypoplasia of the corpus callosum |
OMIM:616708 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Agenesis of corpus callosum, Postaxial polydactyly, Micro... |
OMIM:174300 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Proboscis Lateralis |
|
Abnormal corpus callosum morphology, Proboscis, Macrocephaly, Anophthalmia, Microphthalmia, Holop... |
ORPHA:141099 |
| Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Postnatal growth retardation, Intrauteri... |
OMIM:210900 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Postaxial polydactyly,... |
OMIM:300968 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, 2-4 finger syndactyly, Short clavicles, Cerebellar hypoplasia, 2-... |
OMIM:617746 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Toe syndactyly, Hypoplasi... |
ORPHA:464306 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia... |
OMIM:184705 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Postnatal growth retardation, Talipes equinovarus, Pulmonary arteri... |
OMIM:620029 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... |
OMIM:131300 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Decreased calvarial... |
OMIM:617925 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Kbg Syndrome |
|
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, M... |
OMIM:148050 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Absent septum pellucidum, Single transverse palmar crease, Histio... |
OMIM:309801 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Ring Chromosome 12 Syndrome |
|
Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microcephaly, Growth de... |
ORPHA:1439 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Macrocepha... |
OMIM:616975 |
| White-Sutton Syndrome |
|
Broad thumb, Cerebral atrophy, Intrauterine growth retardation, Hypoplasia of the corpus callosum... |
OMIM:616364 |
| Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Microcephaly, Metatarsus adductus, Short metatarsal, Growth dela... |
OMIM:123450 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... |
ORPHA:2710 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Ventricular septal defect, Thickened cortex of long bones, ... |
OMIM:620558 |
| Cockayne Syndrome B |
|
Severe short stature, Square pelvis bone, Cerebral atrophy, Hypoplasia of the iris, Hypoplastic i... |
OMIM:133540 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, Aplasia/Hypoplasia inv... |
ORPHA:2879 |
| Mycophenolate Mofetil Embryopathy |
|
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Foot polydactyly, Short palm |
ORPHA:268249 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Single transvers... |
OMIM:617527 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Cerebellar vermis hypoplasia, Small hand, Plagiocephaly, Clinodactyly, Cavu... |
OMIM:618371 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Slender finger, Plagiocephaly, Tibial torsion, Postnatal growth retardation, Talipes equinovarus,... |
OMIM:613355 |
| Acrofacial Dysostosis, Palagonia Type |
|
Small hand, Finger syndactyly, Short 4th metacarpal, Short stature, Spina bifida occulta |
ORPHA:1787 |
| Hamamy Syndrome |
|
Prolonged QRS complex, Mitral regurgitation, Down-sloping shoulders, Long toe, Tapered finger, Br... |
OMIM:611174 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly |
OMIM:616028 |
| Kenny-Caffey Syndrome, Type 2 |
|
Basal ganglia calcification, Macrocephaly, Abnormality of the medullary cavity of the long bones,... |
OMIM:127000 |
| Raine Syndrome |
|
Plagiocephaly, Micromelia, Brachyturricephaly, Long hallux, Cerebral calcification, Bowing of the... |
OMIM:259775 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodacty... |
OMIM:615465 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomegaly, Arthritis, Hepatomegaly, Osteoporosi... |
ORPHA:465508 |
| Osteogenesis Imperfecta, Type Xx |
|
Plagiocephaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Microc... |
OMIM:618644 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Rig... |
OMIM:268310 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Addictive alcohol use, Hepat... |
ORPHA:57777 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... |
ORPHA:159 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:314679 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Joint contracture of the hand, Umbilical hernia, Mitr... |
OMIM:611962 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Telangiectasia, Microcephaly, Corneal neovascularization, Microphthalmia |
OMIM:278730 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of f... |
OMIM:618164 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal ... |
ORPHA:371428 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... |
ORPHA:100080 |
| Monosomy 9P |
|
Trigonocephaly, Abnormality of the tarsal bones, Calvarial skull defect, Bilateral single transve... |
ORPHA:261112 |
| Trichothiodystrophy |
|
Osteopenia, Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Craniosynosto... |
ORPHA:33364 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Camptodactyly of ... |
ORPHA:2021 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Slender long bone, Postnatal growth retardation, Cerebellar hypoplasia, Microcephaly, Brachycepha... |
OMIM:212066 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Short stature, Microcephaly, Plagiocephaly, Single transverse palmar crease |
OMIM:618106 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Brachycephaly, ... |
OMIM:619244 |
| 48,Xxxy Syndrome |
|
Pulmonary embolism, Elbow dislocation, Abnormal epiphysis morphology, Down-sloping shoulders, Tal... |
ORPHA:96263 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Aicardi Syndrome |
|
Small hand, Plagiocephaly, Polymicrogyria, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of th... |
ORPHA:50 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Macrocephaly, Postaxial polydactyly, Brac... |
OMIM:209900 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad thumb, Plagiocephaly, Short thumb, Broad hallux, Periventricular white matter hyperintensit... |
OMIM:620224 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Arrhythmia, Br... |
ORPHA:500 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Global brain atrophy, Sandal gap, Secondary microcephaly, Intrauterine growth retarda... |
OMIM:619229 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Cholera |
|
Hypovolemic shock, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion conce... |
ORPHA:173 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Plagiocephaly, Hypoplasia of the pons, Partial agenesis of the corpus... |
OMIM:619512 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Basal ganglia calcification, Microcephaly, Microphthalmia |
OMIM:610651 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Macrocephaly |
OMIM:618316 |
| De Barsy Syndrome |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Congenital hip dislocation, Um... |
ORPHA:2962 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growt... |
OMIM:236680 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal temper tantrums, Joint stiffness, Splenomegaly, Abnormal aort... |
ORPHA:581 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Delayed epiphyseal ossification |
OMIM:613320 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Ankylosis |
OMIM:208000 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Brachycephaly, Brachydactyly |
OMIM:619995 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Cerebellar vermis hypoplasia, Postaxial polysyndactyly of foot, Preaxia... |
OMIM:263520 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Microcephaly, Plagiocephaly, Short stature |
OMIM:619227 |
| Cartilage-Hair Hypoplasia |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Absent pubertal growth spurt, Neonat... |
OMIM:250250 |
| Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion contracture, Attent... |
ORPHA:800 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Joint contracture of the hand, Brachyturricephaly, Umbilical hernia, Genu valgum, Arachnodactyly,... |
OMIM:182212 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Growth delay, Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Post... |
ORPHA:93325 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Plagiocephaly, Clinodactyly, Frontal bossing, Macrocephaly, Polydactyly, Dolichocepha... |
OMIM:613610 |
| Au-Kline Syndrome |
|
Plagiocephaly, Overlapping toe, Postaxial polydactyly, Syringomyelia, Deep palmar crease, Dolicho... |
OMIM:616580 |
| Kleefstra Syndrome 1 |
|
Single transverse palmar crease, Talipes equinovarus, Microcephaly, Brachycephaly, Brachydactyly |
OMIM:610253 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Finger clinodactyly, Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Brachyda... |
OMIM:601353 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Rodrigues Blindness |
|
Short stature, Microphthalmia |
OMIM:268320 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Proboscis, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcep... |
OMIM:236100 |
| Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Copper beaten skull, Preaxial hand polydactyly, Bowing of t... |
OMIM:617063 |
| Aymé-Gripp Syndrome |
|
Cerebral cortical atrophy, Plagiocephaly, Reduced arm span, Postnatal growth retardation, Hypopla... |
ORPHA:1272 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Plagiocephaly, Hypoplasia of the brainstem, Pectoralis hypoplasia, Talipes equinovarus, Microceph... |
OMIM:254940 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger... |
OMIM:309800 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Aplasia... |
OMIM:200990 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Restrictive cardiomyopathy, Cerebral atrophy, Cerebellar hypoplasia,... |
OMIM:615398 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Single tra... |
OMIM:223370 |
| Cree Impaired Intellectual Development Syndrome |
|
Brachycephaly, Cutaneous finger syndactyly, Rocker bottom foot |
OMIM:606851 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... |
ORPHA:100082 |
| Poland Syndrome |
|
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... |
ORPHA:2911 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Cerebral atrophy, Intraventricular hemorrhage, Short stature, Syndactyly |
OMIM:616430 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Intrauterine growth retardation, Microphthalmia, Cerebellar hypoplasia, Hydrocephal... |
OMIM:614083 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Syndactyly, Brachyda... |
ORPHA:96182 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Frontal bossing, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffus... |
OMIM:617193 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Microcephaly, Plagiocephaly, Umbilical hernia |
OMIM:616579 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Intrauterine growth retardation |
OMIM:615824 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Congenital hip dislocation, Plagiocephaly, Cavum septum pell... |
ORPHA:457279 |
| Adenylosuccinase Deficiency |
|
Microcephaly, Brachycephaly, Growth delay, Cerebral atrophy |
OMIM:103050 |
| Momo Syndrome |
|
Short sternum, Brachycephaly, Large hands, Macrocephaly, Frontal bossing |
OMIM:157980 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Intrauterine growth retardation, Mi... |
ORPHA:2990 |
| Carpenter Syndrome 2 |
|
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Tricuspid regurgitation, Oxycephal... |
OMIM:614976 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Long fingers, Microphthalmia... |
OMIM:616734 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Cerebral cortical atrophy, Plagiocephaly, Fractures of the long bones... |
ORPHA:496641 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... |
OMIM:609049 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H... |
OMIM:216340 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Hypotension, Arrhythmia, Pericarditis |
ORPHA:188 |
| Ohdo Syndrome, X-Linked |
|
Short thumb, Clinodactyly, Overlapping toe, Long thumb, Ulnar deviation of the hand, Hip dysplasi... |
OMIM:300895 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Alg12-Cdg |
|
Posterior plagiocephaly, Sandal gap, Cavum septum pellucidum, Pachygyria, Overlapping fingers, In... |
ORPHA:79324 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hypoplastic ilia, Plagiocephaly, Frontal bossing, Postnatal growth retardation, Dysplasia of the ... |
ORPHA:536467 |
| Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Cerebellar vermis hypoplasia, Coronal craniosynostosis, Umbilical... |
OMIM:612289 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly, Coxa valga, Prima... |
OMIM:619297 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Aplastic clavicle, Finger syndactyly, Cranial hyperostosis, Facial hyperost... |
ORPHA:2658 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Postnatal growth retardation, Abnormal metacarpal morphology, Microphthalmia, Absen... |
OMIM:268300 |
| Cornelia De Lange Syndrome 1 |
|
Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Intrauterine grow... |
OMIM:122470 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Posterior plagiocephaly, Agenesis of corpus callosum, Slender finger, Cerebellar vermis hypoplasi... |
OMIM:619841 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Short finger, Intrauterine growth retardation, Micr... |
OMIM:608670 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Frontal bossing, Tricuspid regurgitation, Brachydactyly, Macrocephaly,... |
OMIM:616894 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Short thumb, Telangiectasia, Talipes equinovarus, Forearm... |
OMIM:268400 |
| Humeroradial Synostosis |
|
Brachycephaly, Humeroradial synostosis |
OMIM:236400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Long hallux, Single transverse palmar crease, Narrow palm, Long palm, Talipes equinovarus, Brachy... |
OMIM:309583 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Polydactyly, Microcephaly, Cavum... |
OMIM:619869 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Hypoplasia of the corpus callosum, Ara... |
OMIM:613406 |
| Osteogenesis Imperfecta, Type Xi |
|
Short stature, Brachycephaly, Protrusio acetabuli, Coxa vara |
OMIM:610968 |
| Trichohepatoneurodevelopmental Syndrome |
|
Plagiocephaly, Cerebral atrophy, Overlapping toe, Fibular bowing, Cerebellar hypoplasia, Talipes ... |
OMIM:618268 |
| Grange Syndrome |
|
Renovascular hypertension, Brachydactyly, Finger clinodactyly, Syndactyly |
OMIM:602531 |
| Tarp Syndrome |
|
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... |
ORPHA:2886 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... |
OMIM:123500 |
| Choanal Atresia |
|
Craniosynostosis, Polydactyly |
ORPHA:137914 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy... |
OMIM:269500 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Short clavicles, Brachy... |
OMIM:603116 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broa... |
OMIM:612474 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Talipes equinovarus, Brachycephaly, Clinodactyly of the 5th finger |
OMIM:619859 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Microcephaly, Brachycephaly, Camptodactyly, Short stature |
OMIM:601701 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Joint contracture of the hand, Arthrogryposis multiplex ... |
OMIM:602398 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cerebral cortical atrophy, Cranial hyperostosis, Umbilical hernia, Macrocep... |
ORPHA:309282 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, 2-3 toe syndacty... |
ORPHA:96201 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Intrauterine growth retardation, Rud... |
ORPHA:958 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Intrauteri... |
OMIM:263650 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... |
ORPHA:97287 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Sho... |
ORPHA:364028 |
| Loeys-Dietz Syndrome 5 |
|
Growth delay, Mitral regurgitation, Arachnodactyly, Talipes equinovarus, Brachycephaly, Increased... |
OMIM:615582 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Abnorma... |
ORPHA:818 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Short thumb, Clinodactyly, Intrauterine growth retardation... |
ORPHA:1708 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... |
ORPHA:89936 |
| 9P13 Microdeletion Syndrome |
|
Umbilical hernia, Brachycephaly, Short stature, Clinodactyly of the 5th finger, Absent palmar crease |
ORPHA:324313 |
| Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Hypotension, Shock |
ORPHA:33475 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Polymicrogyria, Umbilical hernia, Syndactyly |
OMIM:614520 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Microcephaly, Short stature, Microphthalmia |
OMIM:601675 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Proportionate shor... |
OMIM:613457 |
| Legionnaires Disease |
|
Hypotension, Hyponatremia, Arrhythmia, Myocarditis, Pericarditis |
ORPHA:549 |
| Hyperparathyroidism, Transient Neonatal |
|
Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Brachycephaly, Short long bon... |
OMIM:618188 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Developmental And Epileptic Encephalopathy 84 |
|
Microcephaly, Plagiocephaly |
OMIM:618792 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Cerebral atrophy, Brachycephaly, Partial agenesis of the corpus callosum, Frontal ... |
OMIM:617296 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
ORPHA:35708 |
| Gorlin Syndrome |
|
Palmar pits, Cerebral calcification, Calcification of falx cerebri, Arachnodactyly, Brachycephaly... |
ORPHA:377 |
| Distal Deletion 12Q |
|
Broad hallux, Frontal bossing, Elbow flexion contracture, Macrocephaly, Overlapping toe, Single t... |
ORPHA:96149 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Polyphagia, Increased bone mineral density, Reduced bone mineral density, H... |
ORPHA:79443 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Developmental And Epileptic Encephalopathy 95 |
|
Inappropriate laughter, Multiple joint contractures, Joint hypermobility, Cardiomegaly, Hepatomeg... |
OMIM:618143 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Long palm, Narrow palm, Hypoplasia o... |
OMIM:244450 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Osteopenia, Abnormal bone ossification, Joint hypermobility |
ORPHA:2463 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Splenomegaly, Mitral valv... |
OMIM:602782 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Thickened calvaria, Phthisis bulbi, Diaphyseal dysplasia, Broad ischia, Metap... |
OMIM:619727 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Macrocephaly, Overlapping toe, Postnatal growth retardation, Hypoplasia of the corpus callosum, T... |
OMIM:213980 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Cerebral cortical atrophy, Agenesis of corpus callosum, Microphth... |
ORPHA:2059 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Brachycephaly, Brachydactyly, Short stature, Clinodact... |
ORPHA:1974 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small hand, Clinodactyly, Cerebral atrophy, Trigonocephaly, Overlapping toe, Hypoplasia of the co... |
OMIM:309590 |
| Degcags Syndrome |
|
Toe syndactyly, Plagiocephaly, Short thumb, Preaxial hand polydactyly, Intrauterine growth retard... |
OMIM:619488 |
| Kleefstra Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, Microcep... |
ORPHA:261494 |
| Marshall Syndrome |
|
Cerebral calcification, Genu valgum, Thickened calvaria, Brachycephaly, Short stature, Frontal bo... |
ORPHA:560 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, Atrial fibrill... |
ORPHA:31826 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
| Legius Syndrome |
|
Polydactyly, Paroxysmal atrial tachycardia, Macrocephaly, Short stature, Clinodactyly of the 5th ... |
ORPHA:137605 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Branchial anomaly, Hypoplasia of the corpus callo... |
ORPHA:453499 |
| Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Intrauterine growth retardation, Genu valgu... |
OMIM:176270 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Cerebellar vermis hypoplasia, Posterior plagiocephaly, Sandal gap, Umbilical he... |
OMIM:620330 |
| Angelman Syndrome |
|
Secondary microcephaly, Cerebral cortical atrophy, Brachycephaly, Flat occiput |
OMIM:105830 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly |
OMIM:217100 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Polyphagia, Ectopic ossification |
ORPHA:79444 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Branchial cyst, Secondary microcephaly, Hypoplasia of th... |
ORPHA:508488 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Posterior plagiocephaly, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad h... |
OMIM:615873 |
| Stolerman Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Broad palm, Dolichocephaly, Syndactyly |
OMIM:618505 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hypotension, Shock, Bradycardia |
ORPHA:391673 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Down-sloping shoulders, Proportionate short stature, Brachycephaly, Broad palm, Metatarsus adduct... |
OMIM:227330 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos |
ORPHA:91495 |
| Acute Adrenal Insufficiency |
|
Hypotension, Hyperuricemia, Hyponatremia, Hypovolemia, Orthostatic hypotension, Hyperkalemia, Hyp... |
ORPHA:95409 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebral cortical atrophy, Plagiocephaly, Neuronal loss in the cerebral cortex, Microcephaly, Bra... |
OMIM:301072 |
| Williams Syndrome |
|
Synostosis of joints, Mitral valve prolapse, Ventricular septal defect, Overfriendliness, Bicuspi... |
ORPHA:904 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Hydrocephalus |
OMIM:219730 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cerebellar vermis hypoplasia, Cavum septum pellucidum, Secondary microcephaly, Umbilical hernia, ... |
OMIM:620654 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Growth delay, Microphthalmia |
OMIM:120200 |
| Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Hyponatremia, Myocarditis, Myocardial infarction, Peric... |
ORPHA:3452 |
| Bartter Syndrome, Type 3 |
|
Hypokalemia, Hypotension, Hyperchloriduria, Increased circulating renin level |
OMIM:607364 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Dysphagia, Hepatomegaly, Arthrogryposis multiplex... |
OMIM:608013 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Polymi... |
OMIM:615948 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia |
OMIM:221900 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypotension, Shock |
ORPHA:36238 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Hepatomegaly |
OMIM:612301 |
| Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... |
ORPHA:1507 |
| Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Diaphyseal undertubulation, Dis... |
ORPHA:666 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Cerebral atrophy, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, M... |
ORPHA:17 |
| Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Polymicrogyria, Sirenomelia, Prominent occiput,... |
ORPHA:79500 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Plagiocephaly, Intrauterine growth retardation, Decreased heart rate variability, Dolichocephaly,... |
OMIM:619005 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Stiff neck, Ventricular septal defect |
OMIM:617022 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Growth delay, Absent septum pellucidum, Pituitary dwarfism, Agenesis of corpus callo... |
ORPHA:95494 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Reduced cerebral white matter volume, Plagiocephaly, Clinodactyly,... |
OMIM:280000 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Sclerosis of han... |
ORPHA:79474 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis |
ORPHA:292 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Flat occiput |
OMIM:618797 |
| Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Arboleda-Tham Syndrome |
|
Plagiocephaly, Sandal gap, Enlarged proximal interphalangeal joints, Frontal bossing, Intrauterin... |
OMIM:616268 |
| Coffin-Siris Syndrome 1 |
|
Postnatal growth retardation, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the patell... |
OMIM:135900 |
| Ayme-Gripp Syndrome |
|
Craniofacial asymmetry, Cerebral atrophy, Radioulnar synostosis, Brachycephaly, Brachydactyly, Ca... |
OMIM:601088 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... |
OMIM:309500 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... |
ORPHA:989 |
| Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Radiou... |
ORPHA:199 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Tibial bowing, Microcephaly, Phthisis bulbi, Metaphyseal widening, Microphthalmia, Short stature |
OMIM:259770 |
| Peters Plus Syndrome |
|
Cerebral cortical atrophy, Rhizomelia, Toe syndactyly, Disproportionate short-limb short stature,... |
ORPHA:709 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Postnatal growth retardation, Radioulnar synostosis, Hyp... |
OMIM:263750 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia |
OMIM:174000 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... |
ORPHA:570 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Short 5th toe, 2-4 toe cu... |
ORPHA:268261 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... |
ORPHA:100075 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Single transverse palmar crease, Cerebellar hypoplasia, Cubitus valgus, Br... |
ORPHA:96121 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:619471 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, Syndactyly |
OMIM:104350 |
| Pili Torti-Onychodysplasia Syndrome |
|
Cutaneous syndactyly, Palmoplantar keratoderma |
ORPHA:2890 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Macr... |
OMIM:620025 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short distal phalanx of finger, Tethered cord, Intrauterine growth retardation, Cubitus valgus, M... |
OMIM:617157 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Brach... |
ORPHA:1394 |
| Townes-Brocks Syndrome 1 |
|
Broad thumb, Tethered cord, Preaxial hand polydactyly, 3-4 toe syndactyly, Umbilical hernia, Pseu... |
OMIM:107480 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly |
OMIM:616083 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... |
ORPHA:36234 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Cat Eye Syndrome |
|
Umbilical hernia, Absent radius, Microphthalmia, Short stature, Pulmonic stenosis |
OMIM:115470 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Microphthalmia |
ORPHA:1806 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia |
ORPHA:199299 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion contracture, Cardiomegaly, Hepato... |
OMIM:608836 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormally large globe, Hypoplasia of the corpus callosum, Polydactyly, Sy... |
ORPHA:2729 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent fingertip p... |
OMIM:229850 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Brachycephaly, Microphthalmia |
OMIM:229400 |
| Traboulsi Syndrome |
|
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia |
OMIM:601552 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:352665 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Osteopetrosis, Hepatomegaly, Craniosynostosis,... |
ORPHA:667 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping... |
OMIM:265000 |
| Monosomy 22 |
|
Finger syndactyly, Prominent occiput, Single transverse palmar crease, Microcephaly, Clinodactyly... |
ORPHA:96123 |
| Alg9-Cdg |
|
Rhizomelia, Flared metaphysis, Cerebral atrophy, Tricuspid regurgitation, Talipes equinovarus, Na... |
ORPHA:79328 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microcephaly, Microphthalmia, Retinal hemorrhage, Short stature |
OMIM:308300 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Small hand, Plagiocephaly, Hypoplasia of the pons, Finger clinodact... |
OMIM:620455 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Secondary microcephaly, Postnatal growth retardation, Syndact... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Secondary microcephaly, Postnatal growth retardation, Syndact... |
ORPHA:353277 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Tar... |
ORPHA:85199 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures, Cardiomyopathy |
ORPHA:416 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Postnatal growth retardation, Limited elbow movement, Agenesis of corpus call... |
OMIM:261540 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... |
ORPHA:466650 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:608688 |
| Cockayne Syndrome |
|
Severe short stature, Abnormal epiphysis morphology, Growth delay, Cerebral atrophy, Basal gangli... |
ORPHA:191 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Hyperammonemia, Hyperuricemia |
ORPHA:134 |
| White-Sutton Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Microcephal... |
ORPHA:468678 |
| Oculoauricular Syndrome |
|
Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia |
OMIM:612109 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Broad hallux, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Single transverse pa... |
OMIM:620186 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Elevated circul... |
ORPHA:90068 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage |
ORPHA:79456 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sandal gap, Frontal bossing, Tricuspid regurgitation, Decreased fibular diameter, Dysplasia of th... |
OMIM:619127 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Broad hallux, Sandal gap, Cutaneous finger syndactyly, Brachycephaly, Hip dysplasia, Frontal bossing |
OMIM:616078 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Microcephaly, Short stature, Clinodactyly of the 5th finger, Frontal bossing |
OMIM:301022 |
| 6Q Terminal Deletion Syndrome |
|
Abnormal cerebral cortex morphology, Plagiocephaly, Clinodactyly, Polymicrogyria, Hypoplasia of t... |
ORPHA:75857 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| 3Mc Syndrome 3 |
|
Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Short stature, Growth delay |
OMIM:248340 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, An... |
OMIM:164210 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Limitation of joint mobility, Hypertrophic cardiomyopathy, Pathologic fracture, Splen... |
OMIM:252500 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Wiedemann-Rautenstrauch Syndrome |
|
Agenesis of corpus callosum, Hypoplastic ilia, Polymicrogyria, Cerebellar hypoplasia, Long finger... |
ORPHA:3455 |
| Neuroocular Syndrome 1 |
|
Prominent fingertip pads, Tibial torsion, Umbilical hernia, Periventricular leukomalacia, Hypopla... |
OMIM:619539 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Finger aplasia, Optic nerve hypoplasia, Plagiocephaly, Polymicrogyria |
ORPHA:45358 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Plagiocephaly, Craniosynostosis, Unilatera... |
ORPHA:1521 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly, Microphthalmia |
OMIM:617666 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... |
ORPHA:3474 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Basal ganglia calcification, Mild postnatal growth retardati... |
ORPHA:90324 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... |
ORPHA:340 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardio... |
ORPHA:95430 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Severe short stature, Growth delay, F... |
ORPHA:2753 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... |
OMIM:253280 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Small hand, Overlapping toe, Hypoplasia of the corpus callosum, Short foot, Slender finger, Cereb... |
ORPHA:480880 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Mckusick-Kaufman Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... |
ORPHA:2473 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Cardiomyopathy, Short... |
ORPHA:373 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... |
ORPHA:100078 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Serotonin Syndrome |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:43116 |
| Phace Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Robinow Syndrome |
|
Mesomelia, Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Frontal boss... |
ORPHA:97360 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Intrauterine growth retardation, Polydactyly, Severe postnatal growth retardation... |
ORPHA:769 |
| Congenital Myopathy 13 |
|
Bilateral talipes equinovarus, Microcephaly, Brachycephaly, Short stature |
OMIM:255995 |
| Alstrom Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Polydactyly, Short stature, Hypertension, Hyper... |
OMIM:203800 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| X-Linked Intellectual Disability, Armfield Type |
|
Cerebral cortical atrophy, Small hand, Limited elbow extension, Brachycephaly, Macrocephaly, Shor... |
ORPHA:85276 |
| Down Syndrome |
|
Sandal gap, Umbilical hernia, Bilateral single transverse palmar creases, Brachycephaly, Delayed ... |
ORPHA:870 |
| Acute Radiation Syndrome |
|
Telangiectasia, Hypotension |
ORPHA:454831 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Umbilical hernia, Arrhythmia, Brachycephaly, Brachydactyly, Clinoda... |
ORPHA:1519 |
| Autosomal Dominant Robinow Syndrome |
|
Severe short stature, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, ... |
ORPHA:3107 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Townes-Brocks Syndrome |
|
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... |
ORPHA:857 |
| Scalp-Ear-Nipple Syndrome |
|
Broad thumb, Finger syndactyly, Congestive heart failure, Frontal bossing, Calvarial skull defect... |
OMIM:181270 |
| Papillorenal Syndrome |
|
Short stature, Hypertension, Microphthalmia |
OMIM:120330 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Single transverse pa... |
OMIM:190685 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Short stature |
OMIM:615849 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, 2-3 finger syndactyly,... |
OMIM:312870 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Brachycephaly, Microphthalmia, Frontal bossing |
ORPHA:861 |
| X-Linked Intellectual Disability, Snyder Type |
|
Arachnodactyly, Long toe, Slender toe, Brachycephaly, Camptodactyly, Cerebral edema, Short statur... |
ORPHA:3063 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Plagiocephaly, Congestive heart failure, Hypoplasia of proximal radius, Fibular hypop... |
ORPHA:444077 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
2-4 toe syndactyly, Plagiocephaly, Skull asymmetry, Cone-shaped epiphyses of the phalanges of the... |
OMIM:150230 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypotension, Hypertension |
ORPHA:95613 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Microcephaly, Spina bifida |
ORPHA:322 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Osteoporos... |
ORPHA:365 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Plagiocephaly, Synostosis involving the 1st metacarpal, Tricuspid regurgitation, Hypoplasia of th... |
ORPHA:466791 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Microphth... |
OMIM:175780 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Cystathioninemia, Hypomethioninemia, Pulmonary arterial hypertension, Hyperhomocysti... |
OMIM:277400 |
| Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Brachycephaly, Craniosynostosis |
ORPHA:1790 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Short foot, Short 5th finger, Pol... |
OMIM:607872 |
| Faundes-Banka Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Delayed puberty, Primary microcephaly, Frontal bo... |
OMIM:619376 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Turricephaly, Abnormal ... |
ORPHA:2907 |
| Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Hippocampal atrophy, Radioulnar synostosis, Microcephal... |
OMIM:619325 |
| 1P36 Deletion Syndrome |
|
Cerebral cortical atrophy, Dilated cardiomyopathy, Camptodactyly of finger, Clinodactyly of the 5... |
ORPHA:1606 |
| Branchioskeletogenital Syndrome |
|
Umbilical hernia, Upper limb peromelia, Thickened calvaria, Microcephaly, Amelia involving the lo... |
ORPHA:1299 |
| Fucosidosis |
|
Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Agenesis of corpus callosum, Ce... |
OMIM:157170 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Global brain atrophy, Restrictive cardiomyopathy, Slender long bone, Upper limb undergrowth, Brac... |
ORPHA:369837 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Perivent... |
OMIM:309000 |
| Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Microphthalmia |
OMIM:153400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic ilia, Clinodactyly, Slender long bone, Macrocephaly, Intrauterine growth retardation,... |
OMIM:264090 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma... |
ORPHA:3253 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Myocarditis, Bradycardia, Elevated circulating C-reactive protein concentrati... |
ORPHA:319213 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Cutis Marmorata Telangiectatica Congenita |
|
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Telangiectasia of the skin, S... |
ORPHA:1556 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Dilated cardiomyopathy, Hyperammonemia, Hyperuricemia, Cardiac arrest |
ORPHA:20 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Proximal radio-ulnar synostosis, Large hands |
ORPHA:2062 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Secondary microcephaly, Long hallux, Genu valgum, Hypoplasia of the corpus... |
ORPHA:261537 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Brachycephaly, Contracture o... |
OMIM:618223 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Carpal synostosis, Frontal bossing, Femoral bowing, Humeroradial s... |
OMIM:201750 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Plagiocephaly, Congestive heart failure, Intrauterine growth retardation, G... |
OMIM:619475 |
| Addison Disease |
|
Hypotension, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypercalcemia, I... |
ORPHA:85138 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Dural ectasia, Umbilical hernia, Absent distal phalanges, Arachnod... |
OMIM:610168 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Short stature, Syndactyly |
OMIM:129400 |
| Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Single transverse palmar crease, Intrinsic hand muscle atrophy, Microcephaly, Brachyc... |
OMIM:615273 |
| Bohring-Opitz Syndrome |
|
Limitation of joint mobility, Congenital contracture, Cardiomegaly, Abnormal cardiac septum morph... |
ORPHA:97297 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal epiphysis morphology, Umbilical hernia, Frontal bossing, Genu valgum, Delayed puberty, M... |
ORPHA:534 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypertension |
ORPHA:2912 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hypoplastic anterior commissure, Hyphema, Secondary microcephaly, Long hal... |
ORPHA:261552 |
| Aicardi-Goutières Syndrome |
|
Degeneration of the striatum, Plagiocephaly, Hypertrophic cardiomyopathy, Cerebral calcification,... |
ORPHA:51 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly |
OMIM:236700 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Arrhythmia, Telangiectasia of the skin |
ORPHA:2135 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Joint hypermobility, Ventricular septal defect |
ORPHA:96191 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Adult Syndrome |
|
Toe syndactyly, Finger syndactyly, Split foot |
ORPHA:978 |
| Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hypertriglyceri... |
ORPHA:275761 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Mild postnatal growth retardation, Syndactyly |
OMIM:224120 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... |
ORPHA:99826 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hypoplasia of the corpus callosum, Spontaneous, recurrent epistaxis, Brachycephaly, Hallux valgus... |
ORPHA:2072 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Bidirectional shunt, Broad thumb, Frontotemporal cerebral atrophy, Tricuspi... |
OMIM:619534 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent fingertip pads, Microcephaly, Brachycephaly, Long fingers, Short stature, Growth delay,... |
OMIM:619950 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... |
ORPHA:69085 |
| Abetalipoproteinemia |
|
Hepatomegaly, Osteopenia, Cardiomegaly |
ORPHA:14 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Genu valgum, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... |
ORPHA:2152 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... |
ORPHA:168558 |
| Proteus Syndrome |
|
Macrodactyly, Pulmonary embolism, Finger syndactyly, Cranial hyperostosis, Calvarial hyperostosis... |
ORPHA:744 |
| Eec Syndrome |
|
Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Sho... |
ORPHA:1896 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... |
OMIM:300855 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Arachnodac... |
OMIM:601776 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... |
ORPHA:289548 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:293978 |
| Tetraamelia Syndrome 1 |
|
Hypoplastic pelvis, Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Corneal neovasculariz... |
ORPHA:2363 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Plagiocephaly, Basal ganglia calcification, Cerebral calcification, Abnormal periventricular whit... |
ORPHA:2785 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Atrial ... |
OMIM:269150 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Finger joint hypermobility, Tracheomalacia, Patent foramen ovale |
OMIM:620371 |
| Hellp Syndrome |
|
Hypotension, Internal hemorrhage, Cerebral hemorrhage |
ORPHA:244242 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Gapo Syndrome |
|
Frontal bossing, Plagiocephaly, Growth delay, Umbilical hernia |
OMIM:230740 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... |
OMIM:617088 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypertension |
ORPHA:93256 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... |
OMIM:149730 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Elsahy-Waters Syndrome |
|
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Phthisis bulbi, Brachycephal... |
OMIM:211380 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Alexander Disease |
|
Hypertension, Hypotension, Sudden cardiac death |
ORPHA:58 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Tricuspid stenosis, Palpitations, Heart murmur |
ORPHA:100079 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Palpitations, Hypokalemia, Supraventricular arrhythmia, Ve... |
ORPHA:91347 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Finger syndactyly, Genu varum |
ORPHA:1969 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxi... |
OMIM:609192 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Viss Syndrome |
|
Rocker bottom foot, Umbilical hernia, Genu valgum, Contracture of the proximal interphalangeal jo... |
OMIM:619472 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthritis, Hepatomegaly |
OMIM:620376 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Mild postnatal growth retardation, Pachygyria, Cranio... |
ORPHA:2136 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly |
ORPHA:1973 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Postaxial polydactyl... |
ORPHA:110 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Hip contracture, Hydrocephalus, Narrow iliac wing, Short stature |
ORPHA:3042 |
| Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... |
ORPHA:509 |
| Mowat-Wilson Syndrome |
|
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ... |
OMIM:235730 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Splenomegaly, Cardiomegaly, Flexion contractu... |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Osteopenia, Cardiomegaly, Osteolytic defects o... |
OMIM:182250 |
| Kindler Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Turri... |
ORPHA:2908 |
| Aspartylglucosaminuria |
|
Cerebral atrophy, Mitral regurgitation, Thickened calvaria, Microcephaly, Brachycephaly, Short st... |
OMIM:208400 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Delayed puberty, Anterior plagiocephaly |
OMIM:619718 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Norrie Disease |
|
Cerebral cortical atrophy, Hypoplasia of the iris, Microcephaly, Aplasia/Hypoplasia of the cerebe... |
ORPHA:649 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly |
OMIM:618548 |
| Common Variable Immunodeficiency |
|
Vasculitis, Brachycephaly |
ORPHA:1572 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Shock, Hyponatremia, Hyperkalemia, Hypochloremia, Hypovolemia |
ORPHA:90794 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Right-to-left shunt, Syringomyelia, Brachycephaly, Pulmonary arterial hypertension, Pulmonary ins... |
OMIM:265380 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Osteomalacia, Hypophosphatemic rickets, Cardiomegaly, Abnormal calcifica... |
ORPHA:51608 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly |
ORPHA:1071 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly |
OMIM:608980 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... |
ORPHA:116 |
| Primrose Syndrome |
|
Short distal phalanx of finger, Macrocephaly, Cerebral calcification, Genu valgum, Hip contractur... |
OMIM:259050 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Shock, Hyperammonemia, Intracranial hemorrhage |
ORPHA:90062 |
| Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
| Plague |
|
Hypotension, Tachycardia, Arrhythmia, Hematemesis |
ORPHA:707 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
