Gombo Syndrome |
|
Microphthalmia, Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Macrocephaly, Polymicrogyria, Hydrocephalus, Syndactyly, Megalencephaly, Thick corpus callosum, P... |
OMIM:615938 |
Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Macrocephaly, Small thenar eminence, Aplasia/Hypoplasia of the di... |
ORPHA:3246 |
Syndactyly Type 1 |
|
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... |
ORPHA:1891 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Micr... |
ORPHA:64754 |
Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Microcephaly, Talipes equino... |
OMIM:613885 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
Mmep Syndrome |
|
Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot |
ORPHA:3434 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Jawad Syndrome |
|
Primary microcephaly, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finge... |
OMIM:251255 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Syndactyly, Microcephaly, Cutaneous finger syndactyly, Aplasia/H... |
OMIM:600384 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Age... |
OMIM:616570 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation, Micro... |
OMIM:164180 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Aplasia/Hypoplasia of... |
ORPHA:945 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... |
OMIM:615771 |
Frontal Encephalocele |
|
Encephalocele, Macrocephaly, Hydrocephalus, Spina bifida, Cerebral calcification, Aplasia/Hypopla... |
ORPHA:1931 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... |
OMIM:211960 |
Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... |
OMIM:112600 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... |
ORPHA:93397 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal placement of thumb, F... |
ORPHA:139471 |
Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcep... |
ORPHA:3265 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... |
OMIM:206920 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... |
OMIM:610140 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
Microcephaly-Cardiomyopathy |
|
Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger |
OMIM:251220 |
Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Microcephaly, Clinodactyly of... |
ORPHA:3268 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... |
OMIM:615297 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Pre... |
ORPHA:380 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... |
ORPHA:1113 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Polydactyly, Upper limb phocomelia |
ORPHA:294975 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... |
ORPHA:488232 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:238446 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microcephaly, Microphthalmia |
OMIM:614082 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro... |
ORPHA:1528 |
Split-Hand/Foot Malformation 6 |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot |
OMIM:225300 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... |
OMIM:603194 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence... |
OMIM:218670 |
Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... |
OMIM:183600 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... |
OMIM:611134 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthal... |
OMIM:615665 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand ... |
OMIM:611561 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Microphthalmia |
ORPHA:291 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly |
ORPHA:2476 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Micropenis, Hypercalcemia, Hypospadias |
OMIM:614732 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Long proximal phalanx of finger, Congenital hip dislocation, Slender distal ph... |
OMIM:603546 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Lissencephaly 8 |
|
Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Hypoplasia of the... |
OMIM:617255 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Megalencephaly, Progressi... |
OMIM:602501 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... |
OMIM:609432 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Prominent protruding coccyx, Bilateral microphthalmos, Hydranencephaly, ... |
ORPHA:2839 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal o... |
ORPHA:166024 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Brachydactyly Type B |
|
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers... |
ORPHA:1617 |
Hydrolethalus |
|
Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... |
ORPHA:2189 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Focal cortical dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Abnormal left ventricula... |
OMIM:613155 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Seckel Syndrome 2 |
|
Microphthalmia, Microcephaly, Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger |
OMIM:606744 |
Septooptic Dysplasia |
|
Short finger, Optic disc hypoplasia, Polydactyly, Absent septum pellucidum, Optic nerve hypoplasi... |
OMIM:182230 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot |
OMIM:313350 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
Bardet-Biedl Syndrome 22 |
|
Macrocephaly, Postaxial foot polydactyly, Microcephaly, Polydactyly |
OMIM:617119 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina bifida, Scapular wi... |
ORPHA:1327 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, 3-4 finger syndactyly, Hydrocephalus, Spina bifida, Myelomeningocele, Ectr... |
ORPHA:2437 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus |
OMIM:614830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... |
OMIM:616171 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Curry-Jones Syndrome |
|
Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Pre... |
ORPHA:1553 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... |
OMIM:225280 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microcephaly, Microphthalmia |
ORPHA:3469 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:2117 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
ORPHA:93409 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Macrocephaly at birth |
ORPHA:324416 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity |
OMIM:618406 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Camptodactyly, Anterior basal encephalocele, Microphthalmia, Postaxial hand ... |
OMIM:136760 |
Temtamy Syndrome |
|
Macrocephaly, Genu varum, Microphthalmia, Clinodactyly of the 5th finger, Short toe, Aplasia/Hypo... |
ORPHA:1777 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Carpenter Syndrome |
|
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... |
ORPHA:65759 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Tricuspid... |
ORPHA:1120 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microcephaly, Microphthalmia, Cerebral atrophy |
OMIM:274270 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... |
ORPHA:370010 |
Microphthalmia, Syndromic 8 |
|
Microcephaly, Microphthalmia, Split foot |
OMIM:601349 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microcephaly, Microphthalmia |
OMIM:619981 |
Walker-Warburg Syndrome |
|
Macrocephaly, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Absent septu... |
ORPHA:899 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Obesity |
OMIM:240900 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Bilater... |
ORPHA:1106 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Finger syndactyly, Aniridia, Split hand |
ORPHA:2440 |
Cofs Syndrome |
|
Camptodactyly of finger, Cerebral calcification, Microphthalmia, Microcephaly, Aplasia/Hypoplasia... |
ORPHA:1466 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Macrocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger |
OMIM:618725 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Microphthalmia, Cortical dysplasia |
ORPHA:261272 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
Schisis Association |
|
Encephalocele, Spina bifida, Microcephaly, Anencephaly |
ORPHA:63862 |
Hypomelanosis Of Ito |
|
Macrocephaly, Hand polydactyly, Cerebral atrophy, Syndactyly, Microcephaly, Radial deviation of f... |
OMIM:300337 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... |
ORPHA:3250 |
Trisomy 1Q |
|
Macrocephaly, Camptodactyly of finger, Hydrocephalus, Toe syndactyly, Cerebellar hypoplasia, Agen... |
ORPHA:261344 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Absent toe, Short metatarsal, Short palm, Microcephaly, 2-3 toe s... |
OMIM:614814 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Finger syndactyly, Holoprosencephal... |
ORPHA:1908 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic acetabulae, Hypoplastic scapulae, Micro... |
OMIM:169550 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... |
OMIM:618447 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... |
ORPHA:2019 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Microphthalmia, Microcephaly, Sandal gap, Hypoplasia of the corp... |
OMIM:300887 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Hydrocephalus, Finger syndactyly, Abnormality of t... |
ORPHA:2378 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Anophthalmia, Occipital cortical atrophy |
ORPHA:411986 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Cerebral white matter hypoplasia, Pachygyria, Microcephaly, Clinodactyly, Hypoplasia ... |
OMIM:619091 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Macrocephaly, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Microphthalmia, Me... |
OMIM:300863 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Overlapping toe, Perisylvian polymicrogyria, Microphthalmia, Microcephaly, Cere... |
OMIM:600118 |
Fountain Syndrome |
|
Macrocephaly, Short distal phalanx of finger, Spina bifida, Abnormal metacarpal morphology, Coars... |
ORPHA:3219 |
Woolly Hair |
|
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Anophthalmia, Microcephaly, Microphthalmia |
OMIM:147250 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Hydrocephalus, Microphthalmia, Microcephaly, Tethered cord, Absent thumb |
OMIM:617244 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Polymicrogyria, 2-3 finger syndactyly, Triphalangeal hallux, Microphthalmia, ... |
OMIM:601707 |
Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
Aminopterin Syndrome Sine Aminopterin |
|
Macrocephaly, Rudimentary postaxial polydactyly of hands, Short thumb, Umbilical hernia, Syndacty... |
OMIM:600325 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Low posterior hairline, Low anterior hairline, Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... |
OMIM:617927 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Finger syndactyly, Rocker bottom foot, Toe syndactyly, Microcephaly, Cerebellar hyp... |
OMIM:616038 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebellar ... |
OMIM:251270 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot |
DECIPHER:46 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Agenesis of co... |
OMIM:207950 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Hydrocephalus, Occipital encephalocele, Postaxial hand p... |
OMIM:607361 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... |
ORPHA:2141 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Oculoskeletodental Syndrome |
|
Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypocalcemia, Hypogonadism |
ORPHA:163693 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:607624 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Hydrocepha... |
OMIM:175700 |
Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Bifid sternum, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Macrocephaly, Polymicrogyria, Mitral regurgitation, Abnormally large globe, Postaxial polydactyly... |
OMIM:603387 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Microphthalmia, Opt... |
OMIM:615181 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Macrocephaly, 3-4 finger syndactyly, Microphthalmia, 2-3 toe syndactyly, Anophthalmia |
OMIM:615877 |
Trisomy 13 |
|
Bilateral single transverse palmar creases, Ectrodactyly, Microphthalmia, Postaxial hand polydact... |
ORPHA:3378 |
Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia |
ORPHA:2591 |
Pierpont Syndrome |
|
Short finger, Abnormal cortical gyration, Primary microcephaly, Excessive wrinkling of palmar ski... |
ORPHA:487825 |
Periventricular Nodular Heterotopia 1 |
|
Short finger, Thin corpus callosum, Cerebral hemorrhage, Syndactyly, Cerebellar hypoplasia, Clino... |
OMIM:300049 |
Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Moebius Syndrome |
|
Clinodactyly, Camptodactyly, Syndactyly, Microphthalmia, Lower limb undergrowth, Aplasia/Hypoplas... |
OMIM:157900 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia |
OMIM:613752 |
Fatco Syndrome |
|
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... |
ORPHA:2492 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Camptodactyly, Thin corpus callosum, Microphthalmia, Microcephaly, Cubitu... |
OMIM:619694 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Type II lissencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Hydrocephalus,... |
OMIM:613153 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Woolly Hair Nevus |
|
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... |
ORPHA:79414 |
Summitt Syndrome |
|
Macrocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal, Clinodactyly of t... |
ORPHA:3210 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cafe-au-lait spot, Axillary freckling, Hypercalcemia |
OMIM:171420 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... |
OMIM:135750 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Anophthalmia |
ORPHA:77298 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal chondrodysplasia, Hydrocephalus, Microphthalmia, Short palm, Cerebellar hypoplasia, A... |
ORPHA:163966 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, P... |
ORPHA:2538 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Adams-Oliver Syndrome 2 |
|
Macrocephaly, Polymicrogyria, Cerebral atrophy, Hydrocephalus, Microphthalmia, Short middle phala... |
OMIM:614219 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Gordon Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:376 |
Pierpont Syndrome |
|
Short finger, Deep palmar crease, Microphthalmia, Short toe, Broad palm, Short palm, Microcephaly... |
OMIM:602342 |
Nail-Patella Syndrome |
|
Limited elbow extension, Patellar aplasia, Hypoplastic radial head, Spina bifida, Iliac horns, Di... |
OMIM:161200 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Hip dysplasia, Proximal placement of thumb, Hydrocephalus, Spina bifida, Umbilical... |
OMIM:613776 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Small thenar eminence, Pulmonic stenosis, Joint contracture of the 5th finger, Umb... |
OMIM:618914 |
Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Oc... |
OMIM:614175 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Joubert Syndrome 18 |
|
Camptodactyly, Agenesis of cerebellar vermis, Postaxial polydactyly, Trident pelvis, Occipital en... |
OMIM:614815 |
Camptobrachydactyly |
|
Camptodactyly of finger, Ulnar deviation of finger, Finger syndactyly, Aplasia/Hypoplasia of the ... |
ORPHA:1319 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... |
OMIM:246570 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Grange Syndrome |
|
Hypertension, Syndactyly, Short palm, Aortic regurgitation |
ORPHA:79094 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Polymicrogyria, Camptodactyly of finger, Hip dislocation, Bilateral microphthalmos, Flexion contr... |
OMIM:610758 |
Joubert Syndrome 10 |
|
Macrocephaly, Cerebellar vermis hypoplasia, Postaxial polydactyly |
OMIM:300804 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abnormal shoulder ... |
OMIM:274000 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Macrocephaly, Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyl... |
OMIM:607131 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Hand polydactyly, Spina bifida, Telangiectasia of the skin, Umbilical he... |
ORPHA:2092 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Progressive microcephaly, Abnormally large globe, Hydrocephalus, Microphth... |
OMIM:615249 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Proximal placement of thumb, Abnormal epiphysis morphology, Micro... |
ORPHA:93267 |
Non Rare In Europe: Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Meckel Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Hydrocephalus, Anophthalmia, Lobar holoprosencephaly, ... |
ORPHA:564 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Duplication of phalanx of hand, Hip dislocation, Broad phalanx, Spina bifida, Overlapping toe, Ab... |
ORPHA:508498 |
Sclerosteosis |
|
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand |
ORPHA:3152 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hirsutism, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Vacterl With Hydrocephalus |
|
Hip dislocation, Hydrocephalus, Spina bifida, Hypoplasia of the radius, Aqueductal stenosis, Micr... |
ORPHA:3412 |
Monosomy 5P |
|
Finger syndactyly, Microcephaly, Small hand |
ORPHA:281 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Macrocephaly, Postaxial polydactyly, Hydrocephalus, Dandy-Walker malformation, Opt... |
OMIM:605627 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Adams-Oliver Syndrome |
|
Encephalocele, Short distal phalanx of finger, Absent hand, Pulmonary arterial hypertension, Hydr... |
ORPHA:974 |
Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Synd... |
OMIM:113000 |
Basal Cell Nevus Syndrome 1 |
|
Macrocephaly, Down-sloping shoulders, Palmar pits, Polydactyly, Hydrocephalus, Spina bifida, Shor... |
OMIM:109400 |
Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly, Hydrocephalus, Meningocele, ... |
OMIM:614424 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Mosaic Trisomy 9 |
|
Biparietal narrowing, Camptodactyly of finger, Hip dislocation, Spina bifida, Deep palmar crease,... |
ORPHA:99776 |
Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda... |
OMIM:615986 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentatio... |
ORPHA:177910 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Microcephaly, Polydactyly |
OMIM:616910 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasi... |
ORPHA:1926 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Bilateral single transverse palmar creases, Finger syndactyly, Short 4th met... |
ORPHA:264200 |
Camptobrachydactyly |
|
Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Bartsocas-Papas Syndrome 2 |
|
Absent distal phalanges, 2-5 finger cutaneous syndactyly, Small hand, Microphthalmia |
OMIM:619339 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... |
ORPHA:1916 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Fragile nails, Alopecia, Increased serum bile acid co... |
OMIM:242150 |
Orofaciodigital Syndrome Iv |
|
Short finger, Hand polydactyly, Cerebral atrophy, Postaxial polydactyly, Short tibia, Porencephal... |
OMIM:258860 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microlissencephaly, Simplified gyral pattern, Microphthalmia, Optic nerve hypoplasia, Small cereb... |
OMIM:617914 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele, Cerebral calcification, Porencephal... |
ORPHA:1393 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Microphthalmia, Hydrocephalus |
ORPHA:858 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Mitral regurgitation, Osteolysis involving bones of the lower limbs, Syndactyly, O... |
ORPHA:88630 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia |
OMIM:246700 |
Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Narrow pelvis bone, Spina bifida, Abnormal hip bone... |
ORPHA:3380 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... |
ORPHA:93322 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Macrocephaly, Polymicrogyria, Hand polydactyly, Hydrocephalus, Arrhythmia, Finger syndactyly, Toe... |
ORPHA:60040 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Microphthalmia |
OMIM:610756 |
Bresek Syndrome |
|
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly |
ORPHA:85284 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Mitral regurgitation, Umbilical hernia, Tricu... |
ORPHA:1101 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum, Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Microphthalmia, Optic nerve hypoplasia, Dysplastic corpus callosum, Microcephaly,... |
OMIM:614833 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... |
OMIM:193510 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... |
OMIM:617102 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Cousin Syndrome |
|
Macrocephaly, Fibular aplasia, Joint contracture of the hand, Camptodactyly, Hydrocephalus, Hypop... |
OMIM:260660 |
Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia, Congenital bilateral hip dislocation, Syndactyly, Cerebral cortical atrophy |
ORPHA:404451 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Partial duplication of the proximal phalanx of the 3rd finger, D... |
ORPHA:363417 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Upper limb asymmetry, Relative macrocephaly, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Abnormality of fibula morphology, Genu varum, Finger syndactyly, Abnorma... |
ORPHA:2633 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Postaxial polydactyly, Micr... |
OMIM:618142 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Short thumb, Finger syndactyly, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... |
OMIM:203200 |
20P13 Microdeletion Syndrome |
|
Macrocephaly, Polydactyly, Finger syndactyly, Microcephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Forearm undergrowth, Absent radius, Simplified gyral pattern, Short tibia, Aqueduct... |
OMIM:251230 |
Temtamy Syndrome |
|
Hip dislocation, Microphthalmia, Short 2nd toe, Aortic regurgitation, Thick corpus callosum, Tali... |
OMIM:218340 |
Iniencephaly |
|
Encephalocele, Syringomyelia, Spinal dysraphism, Hydrocephalus, Spina bifida, Myelomeningocele, H... |
ORPHA:63259 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia |
ORPHA:83461 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Camptodactyly, Second metatarsal posteriorly placed, Diffuse cerebral atrophy, Basal ganglia calc... |
OMIM:214150 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Joubert Syndrome 23 |
|
Polydactyly, Dysplastic corpus callosum |
OMIM:616490 |
Cat-Eye Syndrome |
|
Hip dysplasia, Microphthalmia |
ORPHA:195 |
Holoprosencephaly |
|
Encephalocele, Macrocephaly, Spinal dysraphism, Hand polydactyly, Hydrocephalus, Arrhythmia, Dand... |
ORPHA:2162 |
Focal Dermal Hypoplasia |
|
Short metatarsal, Toe syndactyly, Microcephaly, Short phalanx of finger, Brachydactyly, Osteopath... |
OMIM:305600 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Amish Lethal Microcephaly |
|
Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:99742 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Sandestig-Stefanova Syndrome |
|
Camptodactyly, Primary microcephaly, Microphthalmia, Rocker bottom foot, Clinodactyly, Hypoplasia... |
OMIM:618804 |
Mosaic Trisomy 1 |
|
Macrocephaly, Camptodactyly of finger, Rocker bottom foot, Toe syndactyly, Cerebellar hypoplasia,... |
ORPHA:1692 |
Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Camptodactyly of finger, Syndactyly, Short toe, Abnormal hand bone ossifica... |
OMIM:300244 |
Ring Chromosome 21 Syndrome |
|
Narrow palm, Syndactyly, Holoprosencephaly, Microcephaly, Small hand, Clinodactyly |
ORPHA:1445 |
Nephrotic Syndrome, Type 14 |
|
Cryptorchidism, Micropenis, Hypogonadism, Hypertriglyceridemia, Hyperpigmentation of the skin, Hy... |
OMIM:617575 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
Boomerang Dysplasia |
|
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol... |
ORPHA:1263 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Clubbing of fingers, Partial duplication of thumb phalanx, Short middle phalanx of t... |
OMIM:617926 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:613730 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Camptodactyly, Primary microcephaly, Hydranencephaly, Calcaneovalgus deform... |
OMIM:256520 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
3Q29 Microduplication Syndrome |
|
Macrocephaly, Biparietal narrowing, Camptodactyly of toe, Microphthalmia, Toe syndactyly, Aniridi... |
ORPHA:251038 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Hydrocephalus, Olivopo... |
ORPHA:370959 |
Rhombencephalosynapsis |
|
Macrocephaly, Agenesis of cerebellar vermis, Polydactyly, Hydrocephalus, Finger syndactyly, Septo... |
ORPHA:59315 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
Martsolf Syndrome 1 |
|
Cardiac arrest, Periventricular white matter hyperintensities, Osteopathia striata, Slender ulna,... |
OMIM:212720 |
Monosomy 18P |
|
Hypertension, Holoprosencephaly, Microphthalmia, Microcephaly, Brachydactyly |
ORPHA:1598 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Absent radius, Aplasia/Hypoplasia of the thumb, Microphthalmia, Aplasia of the 1st metacarpal, Mi... |
ORPHA:1352 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Warburg Micro Syndrome 2 |
|
Polymicrogyria, Clinodactyly of the 5th toe, Global brain atrophy, Secondary microcephaly, Overla... |
OMIM:614225 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Microphthalmia |
ORPHA:48431 |
Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Hand... |
ORPHA:1520 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy, Cerebellar hypoplasia, Microphthalmia |
OMIM:618805 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Tricuspid regurgitation, Postaxial polydactyly |
OMIM:600151 |
Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Duplication of hand bones, Aplasia/hypoplasia involving bone... |
ORPHA:2369 |
Holt-Oram Syndrome |
|
Down-sloping shoulders, Abnormality of the humerus, Paroxysmal atrial fibrillation, Absent thumb,... |
ORPHA:392 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Postaxial polydactyly, Hydrocephalus, Deviation of the 5th finger, Microcephaly, B... |
OMIM:616362 |
3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pulmonic stenosis, Proximal pl... |
ORPHA:435638 |
Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Microphthalmia, Finger clinodactyly,... |
ORPHA:391474 |
Neurooculocardiogenitourinary Syndrome |
|
Secondary microcephaly, Abnormality of the palmar creases, Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
Joubert Syndrome 7 |
|
Encephalocele, Abnormal corpus callosum morphology, Postaxial polydactyly, Postaxial hand polydac... |
OMIM:611560 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Microphthalmia, Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:614583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Macrocephaly, Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpu... |
OMIM:614643 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Increased circulating renin level, Vitiligo, Sparse axillary hair, Hyperkalemia, H... |
ORPHA:95409 |
Sirenomelia |
|
Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius |
ORPHA:3169 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Microphthalmia, Shortening of all distal phalanges of the fingers, Ulnar b... |
OMIM:619135 |
Endove Syndrome, Limb-Only Type |
|
3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib... |
OMIM:619217 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:256710 |
Congenital Rubella Syndrome |