| Gombo Syndrome |
|
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly |
OMIM:233270 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Syndactyly Type 1 |
|
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... |
OMIM:186100 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Triphalangeal Thumb With Polysyndactyly |
|
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... |
ORPHA:3246 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly |
OMIM:234280 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... |
OMIM:174200 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1891 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... |
OMIM:613885 |
| Jawad Syndrome |
|
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... |
OMIM:251255 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... |
ORPHA:957 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Mmep Syndrome |
|
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
| Congenital Varicella Syndrome |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia |
ORPHA:291 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... |
OMIM:600384 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... |
OMIM:616570 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... |
OMIM:164180 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Acalvaria |
|
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... |
OMIM:102510 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:71289 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Frontal Encephalocele |
|
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... |
ORPHA:1931 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| 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, Clinodactyly of the 5th finger, Aplas... |
OMIM:609432 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... |
ORPHA:139471 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation... |
OMIM:602200 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb |
ORPHA:2935 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... |
OMIM:206920 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... |
ORPHA:3265 |
| Pineocytoma |
|
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration |
ORPHA:251912 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Microcephaly-Cardiomyopathy |
|
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... |
ORPHA:488232 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Inability to walk, Increased CSF lactate, Abnormal medullary pyramid morphology, Increased serum ... |
ORPHA:79243 |
| Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... |
ORPHA:93323 |
| Cach Syndrome |
|
Limb ataxia, T2 hypointense thalamus, Nonketotic hyperglycinemia, Atrophy/Degeneration affecting ... |
ORPHA:135 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... |
OMIM:615297 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... |
ORPHA:3268 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... |
ORPHA:1528 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Enlarged fossa... |
OMIM:608629 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis |
OMIM:213010 |
| Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... |
ORPHA:380 |
| 15Q11Q13 Microduplication Syndrome |
|
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger |
ORPHA:238446 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... |
ORPHA:1113 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... |
OMIM:614817 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly |
OMIM:610023 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly |
OMIM:225300 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... |
OMIM:183600 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... |
OMIM:603194 |
| Joubert Syndrome 22 |
|
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... |
OMIM:615665 |
| Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... |
OMIM:611134 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:600348 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... |
OMIM:611561 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Holoprosencephaly 5 |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... |
OMIM:609637 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... |
OMIM:218670 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Hypospadias, Lateral ventricle dilatation |
OMIM:618330 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Seckel Syndrome 2 |
|
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... |
OMIM:606744 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Renal cyst |
OMIM:614870 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio... |
OMIM:620315 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... |
OMIM:613155 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... |
ORPHA:2839 |
| Lissencephaly 8 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... |
OMIM:617255 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... |
ORPHA:166024 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly, Ataxia |
OMIM:618709 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly |
ORPHA:391646 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Hydrolethalus |
|
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... |
ORPHA:2189 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gait disturbance, Urinary incontinence, Lateral ventricle... |
OMIM:221770 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... |
OMIM:182230 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Schisis Association |
|
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida |
ORPHA:63862 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Limb ataxia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Ataxia, Lateral ventricle di... |
OMIM:607596 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... |
ORPHA:1617 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... |
ORPHA:1327 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Bardet-Biedl Syndrome 16 |
|
Renal cyst, Renal agenesis, Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal... |
OMIM:615993 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... |
OMIM:616171 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Renal cyst |
OMIM:614465 |
| Czeizel-Losonci Syndrome |
|
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... |
ORPHA:2437 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia |
OMIM:614830 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx |
OMIM:605967 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Difficulty walking, Decreased glomerular filtration rate, Gait imbala... |
ORPHA:488627 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Curry-Jones Syndrome |
|
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... |
ORPHA:1553 |
| Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:604213 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating pipecolic acid concentration, Elevated circulating alpha-amin... |
OMIM:266100 |
| Xk Aprosencephaly Syndrome |
|
Microcephaly, Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
| Hartsfield Syndrome |
|
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... |
ORPHA:2117 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Inability to walk, Lateral ventricle dilatation |
OMIM:613443 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Difficulty walking, Lateral ventricle dilatation |
ORPHA:306669 |
| Masa Syndrome |
|
Hydrocephalus, Shuffling gait, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Dandy-Walker malformation, Vesicoureteral reflux, Dilated fo... |
ORPHA:3078 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation |
OMIM:618266 |
| Slc35A2-Cdg |
|
Transient nephrotic syndrome, Inability to walk, Increased circulating thyroglobulin concentratio... |
ORPHA:356961 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Temtamy Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... |
ORPHA:1777 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... |
OMIM:300863 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... |
OMIM:136760 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly |
ORPHA:324416 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... |
ORPHA:65759 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Lateral ventricle dilatation |
OMIM:615889 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... |
ORPHA:1120 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hypospadias, Dilated fourth ventricle, Lateral ventricle dilatation, Intrauterine growth retardat... |
OMIM:617751 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... |
ORPHA:1908 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... |
OMIM:175700 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Abnormal pons morphology |
ORPHA:77299 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... |
ORPHA:370010 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lateral ventricle dilatation |
OMIM:617668 |
| Martsolf Syndrome 2 |
|
Short stature, Lateral ventricle dilatation |
OMIM:619420 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Microphthalmia, Split foot |
OMIM:601349 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Hyperalaninemia, Lateral ventricle dilatation |
OMIM:301025 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Microphthalmia, Clinodactyly |
OMIM:619981 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... |
OMIM:225280 |
| Lissencephaly 4 |
|
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:614019 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Ataxia, Molar tooth sign on MRI |
OMIM:617562 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Brainstem dysplasia, Renal cyst, Ataxia... |
OMIM:611560 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Elevated circulating glutaric acid concentration, Lateral ventr... |
OMIM:231670 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Molar tooth sign on MRI, Nephronophthisis, Elongated superior ... |
OMIM:609583 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia, Short stature, Abnormal brainstem morphology |
ORPHA:1532 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain... |
ORPHA:300573 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... |
ORPHA:899 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypospadias |
ORPHA:250994 |
| Cofs Syndrome |
|
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of... |
ORPHA:1466 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk, Renal cyst |
OMIM:614970 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly |
OMIM:617967 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Isolated Split Hand-Split Foot Malformation |
|
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... |
OMIM:617805 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly |
ORPHA:261272 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Beta-alaninuria, Elevated urinary ... |
OMIM:614105 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased CSF lysine concentration, Elevated circulating 2-trans,4-cis-decadienoylcarnitine conce... |
OMIM:616034 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Glutaric aciduria, Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Later... |
OMIM:600721 |
| Hypomelanosis Of Ito |
|
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... |
OMIM:300337 |
| Orofaciodigital Syndrome Xv |
|
Ventriculomegaly, Molar tooth sign on MRI, Hydronephrosis, Agenesis of corpus callosum |
OMIM:617127 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidney dise... |
OMIM:617056 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... |
OMIM:169550 |
| Trisomy 1Q |
|
Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl... |
ORPHA:261344 |
| Proximal Symphalangism |
|
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... |
ORPHA:3250 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... |
OMIM:614814 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... |
OMIM:618447 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... |
OMIM:300887 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Hereditary Renal Hypouricemia |
|
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... |
ORPHA:94088 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Molar tooth sign on MRI, Rhizomelic leg shortening, Hypospadias, Elongat... |
ORPHA:397715 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Macrocephaly, Spina bifida |
OMIM:620439 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Inability to walk, Lateral ventricle dilatation |
OMIM:615716 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Hyperglycinemia, Hyposerinemia, Lateral ventricle dilatation |
ORPHA:284417 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Molar tooth sign on MRI, Renal cyst, Agenesis of corpus callosum, Intrau... |
OMIM:614815 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Nephronophthisis 18 |
|
Nephronophthisis, Hydrocephalus, Thickened glomerular basement membrane, Renal tubular atrophy, S... |
OMIM:615862 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... |
ORPHA:1106 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa... |
OMIM:619091 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Fountain Syndrome |
|
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co... |
ORPHA:3219 |
| Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... |
OMIM:600118 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Growth delay, Intrauterine gr... |
ORPHA:488635 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Inability to walk, Dandy-Walker malformation, Gait ataxia, Hypoplasia of the pons, Lateral ventri... |
OMIM:618606 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Glutamine Deficiency, Congenital |
|
Decreased CSF glutamine concentration, Subependymal cysts, Hyperammonemia, Lateral ventricle dila... |
OMIM:610015 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy... |
OMIM:619113 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callo... |
OMIM:618736 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb |
OMIM:617244 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Scissor gait, Lateral ventricle dilatation |
ORPHA:363654 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia |
ORPHA:3032 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly |
OMIM:615877 |
| Curry-Jones Syndrome |
|
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... |
OMIM:601707 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Pontocerebellar atrophy, Inability to walk, Broad-based gait, Ataxia, Lateral ventricle dilatation |
OMIM:617854 |
| Aminopterin Syndrome Sine Aminopterin |
|
Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ... |
OMIM:600325 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Solitary Median Maxillary Central Incisor |
|
Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:147250 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ... |
OMIM:251270 |
| Neu-Laxova Syndrome 2 |
|
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... |
OMIM:616038 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Molar tooth sign on MRI, Hypospadias, Anencephaly, Dandy-Walker malforma... |
OMIM:614175 |
| Distal Deletion 10Q |
|
Postnatal growth retardation, Acute kidney injury, Spina bifida occulta, Vesicoureteral reflux, E... |
ORPHA:96148 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... |
OMIM:615181 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... |
OMIM:607361 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... |
OMIM:207950 |
| Cog5-Cdg |
|
Urinary incontinence, Atrophy/Degeneration affecting the brainstem, Neurogenic bladder, Truncal a... |
ORPHA:263487 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... |
ORPHA:163966 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... |
ORPHA:487825 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep... |
OMIM:603387 |
| Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Abnormal renal corticomedullary differentiation, Lateral ventricle dilatation |
OMIM:617397 |
| Periventricular Nodular Heterotopia 1 |
|
Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda... |
OMIM:300049 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
| Trisomy 13 |
|
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... |
ORPHA:3378 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... |
ORPHA:2838 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hydrocephalus, ... |
OMIM:609757 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis |
OMIM:274265 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s... |
OMIM:619694 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventriculomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| Fried Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:85335 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... |
OMIM:613153 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hydrocephalus, Short stature, Ataxia, Hypoplasia of the brainstem |
OMIM:618174 |
| Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Dilated fourth... |
OMIM:610688 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Lateral ventricle dilatation, Growth delay |
ORPHA:208447 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Micropenis, Lateral ventricle dilatation, Hyperalaninemia |
OMIM:619847 |
| Moebius Syndrome |
|
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... |
OMIM:157900 |
| Summitt Syndrome |
|
Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3210 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Renal cyst |
OMIM:174050 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum |
OMIM:619301 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia |
OMIM:620085 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ... |
OMIM:614219 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Postnatal growth retardation, Hemolytic-uremic syndrome, Hypospadias, Rhizomelia, Short stature, ... |
OMIM:611209 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... |
OMIM:135750 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short p... |
OMIM:602342 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Gait disturbance |
ORPHA:3270 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus, Calcium oxalate nephrolithiasis |
OMIM:248000 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger |
ORPHA:376 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... |
OMIM:617610 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Lateral ventricle dilatation |
OMIM:618914 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... |
ORPHA:93101 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:77298 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hyperec... |
OMIM:613845 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Broad-based gait |
OMIM:619470 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Nephronophthisis, Ataxia, Micropenis, Exencephaly |
OMIM:614464 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... |
ORPHA:93267 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Hypoplasia of the brainstem, Episodic ataxia, Lateral ventricle dilatation |
ORPHA:420179 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Vesicoureteral reflux, Elevated circulating creatine kinase concentra... |
OMIM:619955 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly, Horsesh... |
OMIM:218350 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ... |
OMIM:613776 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... |
OMIM:161200 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... |
OMIM:612925 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Hyperechogenic kidneys, Agenesis of corpus callosum, Elev... |
OMIM:619111 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Recurrent urinary tract infectio... |
OMIM:618161 |
| Gabriele-De Vries Syndrome |
|
Tip-toe gait, Waddling gait, Ureteropelvic junction obstruction, Hydronephrosis, Lateral ventricl... |
OMIM:617557 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence, Gait disturbance |
OMIM:236690 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of ... |
OMIM:619302 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Renal cyst, Multinucleated neuron, Renal hypoplasia, Ureteral agenesis, Renal dy... |
OMIM:236500 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Aicardi-Goutieres Syndrome 9 |
|
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thickened glomerul... |
OMIM:619487 |
| Grange Syndrome |
|
Short palm, Hypertension, Aortic regurgitation, Syndactyly |
ORPHA:79094 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
| Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Re... |
OMIM:614424 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus call... |
OMIM:616362 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Renal hypoplasia, Hydrocephalus |
OMIM:276950 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Increased CSF lactate, Atrophy/Degeneration affecting the brainstem, Loss of ambula... |
ORPHA:565624 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis |
ORPHA:1046 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... |
OMIM:610758 |
| Craniosynostosis 6 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... |
OMIM:616602 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Short stature, Hy... |
ORPHA:1834 |
| Joubert Syndrome 2 |
|
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Elongated superior cerebellar peduncle,... |
OMIM:608091 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612926 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Elevated circulating creatine ... |
OMIM:613154 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast... |
ORPHA:2092 |
| Al-Gazali-Bakalinova Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy... |
OMIM:607131 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T... |
OMIM:615249 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Enlarged kidney, Short stature, Increased blood urea nitrogen, Hypercalcemia, Ma... |
ORPHA:251004 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma... |
ORPHA:2538 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Microph... |
ORPHA:508498 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Congenital Primary Megaureter |
|
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... |
ORPHA:617 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform... |
ORPHA:99776 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612924 |
| Meckel Syndrome |
|
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... |
ORPHA:564 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc... |
OMIM:109400 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts |
ORPHA:3033 |
| Monosomy 5P |
|
Microcephaly, Finger syndactyly, Small hand |
ORPHA:281 |
| Sclerosteosis |
|
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... |
ORPHA:3152 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of the corpus callosum, Macrocephaly, Encephalocele, Anophthalmia, Cerebellar vermis h... |
OMIM:605627 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Normal pressure hydrocephalus, Inability to walk, Abnormal thalamus... |
ORPHA:300570 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Ventriculomegaly, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ven... |
OMIM:618291 |
| Rhyns Syndrome |
|
Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Spastic gait, Tip-toe gait, Dilated third ventricle, Lateral ventricle dilatation, Partial agenes... |
OMIM:617296 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha... |
OMIM:617102 |
| Caudal Duplication |
|
Spinal cord lesion, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... |
OMIM:113000 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Adams-Oliver Syndrome |
|
Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo... |
ORPHA:974 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Renal cyst, Short stature, Ventriculomegaly, Multicystic kidney dysplasia |
ORPHA:2031 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma, Short s... |
OMIM:241800 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Difficulty walking, Athetosis, Dilated fourth ventricle, Ataxia, Lateral ventricle dilatation, In... |
ORPHA:572798 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration |
ORPHA:251915 |
| Cousin Syndrome |
|
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... |
OMIM:260660 |
| Bresek Syndrome |
|
Hydrocephalus, Vesicoureteral reflux, Renal dysplasia, Growth delay, Renal hypoplasia, Hypoplasia... |
ORPHA:85284 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... |
OMIM:300244 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... |
ORPHA:93322 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Multiple renal cysts |
ORPHA:2924 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Difficulty walking, Hypospadias, Inability to walk, Dilated third ventricle, Hydronephrosis, Agen... |
ORPHA:464738 |
| Diabetic Embryopathy |
|
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp... |
ORPHA:1926 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria |
OMIM:203450 |
| 14Q22Q23 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... |
ORPHA:264200 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Microcephaly,... |
OMIM:251230 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... |
ORPHA:88630 |
| Joubert Syndrome 9 |
|
Ventriculomegaly, Stage 5 chronic kidney disease, Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi... |
OMIM:154230 |
| Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Abnormality of the ureter, Ur... |
OMIM:180860 |
| Congenital Toxoplasmosis |
|
Microcephaly, Cerebral calcification, Microphthalmia, Hydrocephalus |
ORPHA:858 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal... |
ORPHA:1393 |
| Orofaciodigital Syndrome Iv |
|
Cerebral atrophy, Short finger, Porencephalic cyst, Foot polydactyly, Postaxial polydactyly, Hand... |
OMIM:258860 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the p... |
OMIM:617542 |
| Trisomy 18 |
|
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... |
ORPHA:3380 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Hydrocephalus, Hyperechogenic kidneys, Ventriculomegaly, Renal insuff... |
OMIM:219730 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar... |
ORPHA:1101 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia |
ORPHA:73256 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Coach Syndrome 1 |
|
Occipital encephalocele, Molar tooth sign on MRI, Nephronophthisis, Unilateral renal agenesis, En... |
OMIM:216360 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Macrocephaly, Hydrocephalus, Polymicrogyria, Finger syndactyly, Cerebral ischemia, Foot polydacty... |
ORPHA:60040 |
| Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hyd... |
ORPHA:2169 |
| Iniencephaly |
|
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W... |
ORPHA:63259 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating C-reactiv... |
ORPHA:49041 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microcephaly, Camptodactyly of finger, Microphthalmia, Rocker bottom foot |
OMIM:610756 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myoglobinuria, Polycysti... |
ORPHA:228308 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina... |
ORPHA:3412 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ... |
ORPHA:48431 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand |
OMIM:619339 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red... |
ORPHA:157 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Conjugated hyperbilirubinemia, Hydrocephalus |
OMIM:269920 |
| Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:231111 |
| Smith-Magenis Syndrome |
|
Delayed puberty, Hypertriglyceridemia, Renal hypoplasia/aplasia, Gait disturbance, Abnormality of... |
ORPHA:819 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Boomerang Dysplasia |
|
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... |
ORPHA:1263 |
| Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Microcephaly, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph... |
OMIM:618142 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Upper limb asymmetry, Relative macrocephaly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Temtamy Syndrome |
|
Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ... |
OMIM:218340 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Vesicoureteral reflux, Short stature, Growth delay, Agenesis of corpus callosum, V... |
ORPHA:238769 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly |
ORPHA:99742 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Primary microcephaly, Clinodactyl... |
OMIM:256520 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... |
OMIM:143400 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Lateral ventricle dilatation, Agenesis of corpus callosum, Peni... |
ORPHA:1692 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly |
ORPHA:1406 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Syringomyelia, Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Lateral ventricle dilatation |
OMIM:256850 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly |
ORPHA:313781 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... |
ORPHA:363417 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Hypospadias, Disproportionate short-limb short stature, Small pituitary ... |
OMIM:619479 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal localization of kidney |
ORPHA:83473 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Hydrocephalus, Short stature, Chronic kidney disease, Ventriculomegaly |
OMIM:615630 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po... |
OMIM:615996 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Gait disturbance, Short stature, Ventriculomegaly, Microp... |
ORPHA:500055 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... |
ORPHA:730 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Short stature |
ORPHA:1166 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Short stature, Abnormal locali... |
ORPHA:1988 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Glandular hypospadias, Choroid plexus cyst, Abnormal preputium morphology, Lateral ventricle dila... |
ORPHA:293725 |
| Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot... |
OMIM:618804 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Renal Dysplasia |
|
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... |
ORPHA:93108 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical... |
OMIM:305600 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Ataxia, Short stature |
ORPHA:31 |
| Holoprosencephaly |
|
Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand... |
ORPHA:2162 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Growth delay, Agenesis of corpus callosum, Lateral ventricle dilatation, Intrauter... |
OMIM:612863 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... |
OMIM:617926 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,... |
OMIM:614833 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep... |
ORPHA:370959 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cerebral white matter atrophy, Pulmonic stenosis, Br... |
ORPHA:435638 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Spastic gait, Difficulty walking, Colpocephaly |
ORPHA:401815 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand |
ORPHA:1445 |
| 3Q29 Microduplication Syndrome |
|
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac... |
ORPHA:251038 |
| Martsolf Syndrome 1 |
|
Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ... |
OMIM:212720 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Short stature, Abnormality of the ureter |
ORPHA:1035 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Difficulty walking, Gait disturbance, Increased blood urea nitrogen... |
ORPHA:90321 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Intrauterine growth retardation, Horses... |
OMIM:614846 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Micropenis |
ORPHA:171839 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... |
OMIM:619902 |
| Joubert Syndrome 31 |
|
Ventriculomegaly, Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation |
OMIM:600151 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle ... |
OMIM:619575 |
| Rhombencephalosynapsis |
|
Polydactyly, Macrocephaly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx... |
ORPHA:59315 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... |
ORPHA:93258 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem |
ORPHA:352682 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Gait disturbance |
ORPHA:272 |
| Monosomy 18P |
|
Microphthalmia, Hypertension, Microcephaly, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610125 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... |
ORPHA:97362 |
| Neurooculocardiogenitourinary Syndrome |
|
Secondary microcephaly, Abnormality of the palmar creases, Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:1352 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Anencephaly |
OMIM:614120 |
| Craniofrontonasal Dysplasia |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,... |
ORPHA:1520 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Decreased level of plasminogen, Nephri... |
OMIM:217090 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function |
OMIM:618805 |
| Warburg Micro Syndrome 2 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ... |
OMIM:614225 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Growth delay, Increased blood urea nitrogen, Abnormal renal physiology, Ele... |
OMIM:223900 |
| Medullary cystic kidney disease 2 |
|
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... |
OMIM:603860 |
| L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis, Gait disturbance |
ORPHA:275543 |
| Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Hypomagnesemia, Noctu... |
OMIM:223360 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... |
ORPHA:392 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardation |
OMIM:610333 |
| Limb Body Wall Complex |
|
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... |
ORPHA:2369 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... |
OMIM:120330 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Inability to walk, Recurrent urinary tract infections, Ataxia, Lateral ventricle dilatation, Intr... |
OMIM:619229 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Wal... |
OMIM:257300 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... |
OMIM:614723 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p... |
OMIM:274150 |
| Neurooculorenal Syndrome |
|
Postnatal growth retardation, Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Bila... |
OMIM:620305 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the corpus callosum, Adducted thumb, Macrocephaly, Microphthalmia, Encephalocele, L... |
OMIM:614643 |
| Frontorhiny |
|
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Peric... |
ORPHA:391474 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... |
ORPHA:85167 |
| Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m... |
OMIM:220210 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Vesicoureteral ... |
OMIM:609053 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr... |
OMIM:619879 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts, Myelomeningocele |
ORPHA:66637 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh... |
ORPHA:2994 |
| Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| Adult Krabbe Disease |
|
Urinary incontinence, Broad-based gait, Increased CSF protein concentration, Gait disturbance, Ab... |
ORPHA:206448 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619244 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... |
OMIM:619135 |
| Congenital Rubella Syndrome |
|
Microcephaly, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology |
ORPHA:290 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Lateral ventricle dilatation |
OMIM:619278 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... |
OMIM:609945 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Lateral ventricle dilatation |
OMIM:619995 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... |
OMIM:235400 |
| Garg-Mishra Progeroid Syndrome |
|
Secondary microcephaly, Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa ... |
OMIM:620601 |
| Orofaciodigital Syndrome Ii |
|
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... |
OMIM:252100 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... |
OMIM:617914 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Trisomy 17P |
|
Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, Short stature, Growth delay, Ure... |
ORPHA:261290 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Prominent fingertip pads, Microcephaly... |
OMIM:619721 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... |
OMIM:608836 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| Arima Syndrome |
|
Polyuria, Molar tooth sign on MRI, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Poly... |
OMIM:243910 |
| Weaver Syndrome |
|
Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Broad thumb, Camptod... |
ORPHA:3447 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Fanconi Anemia, Complementation Group S |
|
Microcephaly, Clinodactyly, Microphthalmia, Proximal placement of thumb |
OMIM:617883 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Single transverse palmar c... |
OMIM:619148 |
| Uremic Pruritus |
|
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... |
ORPHA:94059 |
| Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Nephropathy, Gait disturbance, Ataxia, Age... |
ORPHA:220497 |
| Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst |
OMIM:613390 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Pulmonary arterial hype... |
OMIM:234100 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Gait disturbance, Hypothalamic atrophy, Ataxia, Lateral ventricle dilatation, ... |
ORPHA:2822 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad... |
OMIM:613684 |
| Say Syndrome |
|
Short stature, Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Broad thumb, Foot po... |
ORPHA:250989 |
| Cartilage-Hair Hypoplasia |
|
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho... |
ORPHA:175 |
| Microphthalmia, Syndromic 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sanda... |
OMIM:300166 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Postnatal growth retardation, Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang... |
OMIM:607597 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of the kidney, Encephalocele, Hydrocephalus, Short stature, Holoprosencephaly, Ventri... |
ORPHA:93274 |
| Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Nephrotic syndrome, Short stature, Proteinuria, Intrauterine growth retardat... |
ORPHA:2065 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... |
ORPHA:2788 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand |
OMIM:603543 |
| Joubert Syndrome 1 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Brainstem dysplasia, Nephropathy... |
OMIM:213300 |
| Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity, Ataxia |
ORPHA:363717 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Inability to walk by childhood/adolescence, Steppage gait |
ORPHA:99947 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... |
ORPHA:251014 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Elevated circulating creatine kin... |
OMIM:614576 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Hepatic ... |
OMIM:612284 |
| Campomelic Dysplasia |
|
Dislocated radial head, Hypoplastic iliac wing, Relative macrocephaly, Femoral bowing, Short long... |
OMIM:114290 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Microphthalmia |
OMIM:308350 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:2182 |
| Fanconi Anemia |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... |
ORPHA:84 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Microphthalmia, Inferior cerebellar vermis hypoplasia, Clin... |
OMIM:607932 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand ... |
OMIM:264480 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... |
OMIM:220150 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration |
OMIM:614859 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m... |
OMIM:617306 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... |
ORPHA:2842 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... |
OMIM:605282 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
| Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma |
OMIM:249400 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Renal cyst, Short stature, Colpocephaly, A... |
OMIM:617260 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... |
ORPHA:163649 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Trisomy 20P |
|
Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac... |
ORPHA:261318 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... |
ORPHA:2671 |
| Heart And Brain Malformation Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Microphthalmia, Cerebe... |
OMIM:616920 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Camptodactyly, Hip dysplasia, Cerebellar hypop... |
OMIM:611961 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly,... |
ORPHA:397590 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Gait disturbance,... |
ORPHA:588 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum |
OMIM:304100 |
| Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem |
OMIM:615191 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum,... |
OMIM:225790 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Temple Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Postnatal growth retardatio... |
ORPHA:254516 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Dandy-Walker malformation,... |
ORPHA:314588 |
| Urban-Rogers-Meyer Syndrome |
|
Short stature, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Disproportionate short-limb short stature, Hydrocephalus, Intrauterine... |
ORPHA:2655 |
| Pelger-Huet Anomaly |
|
Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Short 3rd metacarpal, Um... |
OMIM:169400 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Tapered finger, Sandal gap |
ORPHA:1438 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Microphthalmia, Postaxial polydactyly, Hypoplasia of the corpus cal... |
OMIM:619185 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s... |
ORPHA:2712 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial... |
OMIM:277170 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Encephalocele, Hypoplastic acetabulae, S... |
OMIM:134780 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Multicystic kidney dysplasia, Hypospadias, Intrauterine growth retardation |
ORPHA:2075 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Cerebellar vermis hypoplasia, Ce... |
OMIM:616538 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Recurrent urinary tract infections, P... |
OMIM:613095 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous... |
OMIM:272440 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Unsteady gait, Ataxia, Lateral ventricle dilatation |
ORPHA:457279 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Polycystic kidney dysplasia, Choroid plexus cyst, Hyperechogenic kidneys, Ventricu... |
OMIM:617866 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Aicardi Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypoplasi... |
OMIM:304050 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Microphthalmia, Internal hemorrhage, Clubbing of fingers |
ORPHA:335 |
| Verheij Syndrome |
|
Renal cyst, Renal agenesis, Renal hypoplasia, Short stature, Growth delay, Intrauterine growth re... |
OMIM:615583 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Arrhythmia |
ORPHA:3191 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea... |
ORPHA:959 |
| Marden-Walker Syndrome |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptodactyly, ... |
OMIM:248700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... |
OMIM:147750 |
| Hydrocephalus, Congenital, X-Linked |
|
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
OMIM:307000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Increased CSF lactate, Hydronephrosis, Hydroureter |
OMIM:618240 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Grow... |
OMIM:614886 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Microcephaly, Aortic valve stenosis, Duplication of phalanx of hallux, Pachygyria... |
OMIM:243310 |
| Jacobsen Syndrome |
|
Cerebral atrophy, Macrocephaly, Finger syndactyly, Spina bifida, Aortic valve stenosis, Toe clino... |
ORPHA:2308 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ... |
OMIM:615503 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
| Urofacial Syndrome 1 |
|
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ... |
OMIM:236730 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Dilatation of the renal pelvis, Ataxia, Gait ataxia |
OMIM:617120 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Relative macrocephaly, Hypoplastic ilia, Micromelia, Postaxial polydact... |
OMIM:617895 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:2183 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... |
OMIM:618494 |
| Myoclonic-Astatic Epilepsy |
|
Microcephaly, Microphthalmia, Syndactyly |
ORPHA:1942 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Truncal ataxia |
OMIM:220220 |
| Nephronophthisis 9 |
|
Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro... |
OMIM:613824 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... |
OMIM:304120 |
| Bainbridge-Ropers Syndrome |
|
Intrauterine growth retardation, Inability to walk, Lateral ventricle dilatation, Growth delay |
OMIM:615485 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... |
OMIM:217085 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Dandy-Walker malformation, Enuresis, Short stature, Age... |
ORPHA:459061 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Vesicoureteral reflux, Lateral ventricle dilatation, Short stature |
OMIM:619869 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Hyperbilirubinemia, Renal cyst, Abnormal serum bile acid concentrat... |
ORPHA:79303 |
| Holoprosencephaly 9 |
|
Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydro... |
OMIM:610829 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Microphthalmia, Y-shaped ... |
OMIM:146510 |
| Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Nephropathy, Ataxia, Renal insufficiency |
ORPHA:2318 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism |
OMIM:617660 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Mucopolysacchariduria, Short stature, Ataxia,... |
OMIM:272200 |
| Acrofrontofacionasal Dysostosis 2 |
|
Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly |
OMIM:239710 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Short stature, Renal hypoplasia, Hydrone... |
OMIM:618460 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Urinary incontinence, Atrophy/Degeneration affecting the brainstem, Dilated third ventricle, Atax... |
ORPHA:314404 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:618577 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... |
ORPHA:1475 |
| Cloacal Exstrophy |
|
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... |
ORPHA:93929 |
| Pfeiffer Syndrome |
|
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... |
OMIM:101600 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:257910 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Short long bone, Brachydactyly |
OMIM:615633 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... |
OMIM:613674 |
| Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Microcephaly, Aplasia/Hypoplasia ... |
ORPHA:2714 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... |
OMIM:605432 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Poland Syndrome |
|
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Dextrocardia |
|
Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Hypoplasia of the radius, Microphthalmia, Radial devi... |
ORPHA:3103 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Anterior hypopituitarism, Hypoplasia of the pons, Abnormal midbrain morp... |
ORPHA:280195 |
| Triploidy |
|
Macrocephaly, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye... |
ORPHA:3376 |
| Aredyld Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormality of the ureter |
ORPHA:1133 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:544488 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Polycystic ovaries, Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:1770 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Gait ataxia |
OMIM:616355 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Dandy-Walker malformation, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Ven... |
OMIM:220500 |
| Adams-Oliver Syndrome 1 |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Encephalocele, P... |
OMIM:100300 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... |
OMIM:620663 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap |
OMIM:612918 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Microcephaly, Postaxial polydactyly, Overlapping toe, Tapered finger, Macular hypoplasia |
OMIM:613792 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... |
OMIM:608940 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Hypoplasia of the pons, Ataxia, Micropenis, Ventriculomegaly, Choreoathetosis, Hyp... |
OMIM:614969 |
| Microphthalmia, Syndromic 3 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcep... |
OMIM:206900 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Kleefstra Syndrome |
|
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Short stature, Hydronephrosi... |
ORPHA:261494 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:2181 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Inability to walk, Hydranencephaly, Hydrocephalus, Dilated third ventricle, Short stature, Colpoc... |
OMIM:620371 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Disproportionate short stature, Hydrocephalus, Polycystic kidney dysplasia, Severe postnatal grow... |
OMIM:210710 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur |
ORPHA:2728 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Ataxia |
OMIM:615398 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Sin... |
OMIM:616449 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... |
OMIM:619451 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly |
ORPHA:2377 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydroc... |
ORPHA:2461 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Sandal gap, Microcephaly, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cer... |
OMIM:612530 |
| Kapur-Toriello Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Polymicr... |
OMIM:244300 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Microphthalmia, Microcephaly, Upper limb asymmetry, Umbilical hernia |
ORPHA:2505 |
| Warburg Micro Syndrome 3 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5t... |
OMIM:614222 |
| Noonan Syndrome 14 |
|
Short stature, Lateral ventricle dilatation |
OMIM:619745 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Spina bifida occulta, Meningocele, Abnormality of the ureter, Short stature, Intraut... |
ORPHA:2311 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... |
OMIM:612651 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Lateral ventricle dilatation |
OMIM:263520 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi... |
OMIM:616300 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... |
OMIM:609638 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen... |
ORPHA:322 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... |
ORPHA:3027 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Increased CSF lactate, Renal cyst, Renal hypoplasia, Renal dysplasia, Ren... |
OMIM:614922 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Microcephaly, Postaxial polydactyly |
ORPHA:544254 |
| Refsum Disease |
|
Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morp... |
ORPHA:773 |
| Kabuki Syndrome 1 |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Growth delay, Ureteropelvic junction ... |
OMIM:147920 |
| Monosomy 13Q14 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl... |
ORPHA:1587 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... |
OMIM:614091 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Short stature, Unilateral renal agenesis, Communicating hydrocephalus |
ORPHA:1064 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Bilateral fetal pyelectasis, Duplicated collecting system, Vesicoureteral reflux, Elevated hepati... |
OMIM:300868 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:93260 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Posterior pituitary hypoplasia, Abnormal brainstem morpho... |
ORPHA:464311 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| 3C Syndrome |
|
Postnatal growth retardation, Hypospadias, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malfo... |
ORPHA:7 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Abnormal brainstem morphology |
ORPHA:163961 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... |
ORPHA:568 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Relative macrocepha... |
OMIM:615777 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Dilated fourth ventricle, Olivopontocerebel... |
OMIM:212065 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Recurrent urinary tract infe... |
OMIM:609029 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormality of the kidney, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:177907 |
| Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ... |
OMIM:600987 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... |
ORPHA:1788 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Macrocephaly, Hydrocephalus, Hypoplasia of the fovea, Umbilical hernia, Abnormal EKG... |
ORPHA:93400 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Macrocephaly, Joint contracture of the 5th finger, Single transverse palmar creas... |
OMIM:620098 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Aplasia/Hypoplasia of the th... |
OMIM:219000 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact... |
OMIM:272950 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... |
ORPHA:230 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Gait ataxia, Ventriculomegaly, Cho... |
OMIM:304340 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Ataxia |
OMIM:619725 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hydrocephalus, Short stature, Intrauterine growth retardation, Hypercholest... |
OMIM:616222 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly |
OMIM:618727 |
| Hoxha-Aliu Syndrome |
|
Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing... |
OMIM:620662 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Renal cyst, Growth delay, Nephrocalcinosis, Choreoathetosis, Renal i... |
ORPHA:445038 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad... |
OMIM:212780 |
| Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Relative mac... |
OMIM:300963 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Lateral v... |
OMIM:300896 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Elevated circulating creatinine concentration, Hypospadias, Unilateral... |
OMIM:137920 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia |
ORPHA:531151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypo... |
OMIM:253800 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Hypocalcemic seizures, Lateral ventricle dilatation, Growth delay |
OMIM:612301 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Hydrocephalus, Hyperhomocystinemia, Gait disturbance, Cystathioninemia, Hypomethi... |
ORPHA:395 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... |
OMIM:263200 |
| Stromme Syndrome |
|
Preaxial polydactyly, Microphthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydro... |
OMIM:243605 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Molar tooth sign on MRI, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:617622 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Short stature, Renal hypoplasia, Lateral ventricle dilatation, Renal i... |
OMIM:181270 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Hypoplasia of t... |
OMIM:616546 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta |
ORPHA:2475 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Short palm, Short foot, Small hand |
OMIM:241410 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Microcephaly, ... |
ORPHA:435938 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly |
ORPHA:73246 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... |
OMIM:602088 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Single transverse palmar crease, Microcephaly, Brachydactyly, Clinodactyly |
OMIM:618950 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microphthalmia, Microcephaly, Vitreous hemorrhage, Retinal neovasculariza... |
ORPHA:891 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Adducted thumb, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Over... |
OMIM:617822 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... |
OMIM:618061 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Ureteropelvic junction obstruction, Hydrone... |
ORPHA:444072 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... |
OMIM:615873 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Renal agenesis, Growth delay, Intrauterine growth retardation, Ventriculomegaly, M... |
OMIM:300514 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Postax... |
ORPHA:404440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, P... |
OMIM:613150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the... |
OMIM:615287 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Colpocephaly, Ataxia, Intrauterine growth retardation, Ventriculome... |
OMIM:619833 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Gait disturbance, Disproportionate short-trunk short stature |
OMIM:613330 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Ventriculomegaly, Decreased response to growth hormone stimulation test, El... |
ORPHA:79323 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Neural tube defect, Clinodactyly |
OMIM:119580 |
| Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Dilated third ventricle, Dilated fourth ventricle, Hypoplasia of the pons, Int... |
OMIM:615574 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypertension, Camptodactyly,... |
OMIM:617729 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Hydrocephalus, Abnormal brainstem morphology, Short stature, At... |
ORPHA:2720 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Cohen Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty... |
ORPHA:193 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Gait d... |
ORPHA:1454 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet... |
OMIM:192350 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger |
OMIM:167730 |
| Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly, Gait disturbance, Enuresis |
OMIM:616260 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol... |
ORPHA:3224 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... |
ORPHA:1786 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Enlarged kidney, Hydronephrosis, Urethral atresia |
OMIM:314390 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Vesicoureteral reflux, Micropenis, Unilateral renal agenesis |
OMIM:619951 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Ventriculomegaly, Ataxia |
OMIM:609180 |
| Mend Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ... |
ORPHA:401973 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Hypospadias, Polycystic kidney dy... |
OMIM:614866 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary gonadotropic ce... |
ORPHA:91348 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa... |
ORPHA:915 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
ORPHA:3186 |
| Acrootoocular Syndrome |
|
Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Microcephaly, Prominent calcan... |
ORPHA:2980 |
| Joubert Syndrome 21 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas... |
OMIM:615636 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... |
OMIM:180849 |
| Optic Pathway Glioma |
|
Hydrocephalus, Growth delay |
ORPHA:2086 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Hypoplasia of the brainstem, Anterior pitu... |
ORPHA:464306 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Microphthalmia, Clinodactyly of the 5th finger, Bilateral microphthalmos |
ORPHA:2399 |
| 47,Xyy Syndrome |
|
Hypospadias, Hydrocephalus, Abnormal brainstem morphology, Increased circulating gonadotropin lev... |
ORPHA:8 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Growth delay, Renal hypoplas... |
ORPHA:96170 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... |
OMIM:301111 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter |
ORPHA:2869 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Mi... |
ORPHA:65286 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature |
OMIM:109120 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... |
ORPHA:107 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Inability to walk, Decreased circulating carnitine concentration, Polycystic k... |
ORPHA:26791 |
| Fraser Syndrome |
|
Microphthalmia, Encephalocele, Anophthalmia, Finger syndactyly, Myelomeningocele, Microcephaly, W... |
ORPHA:2052 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Weaver Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:277590 |
| Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida, Microcephaly, Arrhythmia, Sudden cardiac death |
ORPHA:991 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly |
OMIM:618087 |
| Posterior Urethral Valve |
|
Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary... |
ORPHA:93110 |
| Braddock-Carey Syndrome 1 |
|
Growth delay, Multicystic kidney dysplasia, Agenesis of corpus callosum |
OMIM:619980 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... |
ORPHA:166119 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Microcephaly, Long ... |
OMIM:156610 |
| Alagille Syndrome |
|
Delayed puberty, Renal hypoplasia/aplasia, Spina bifida occulta, Abnormality of the ureter, Nephr... |
ORPHA:52 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... |
ORPHA:2334 |
| Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Intrauterine growth retardation, Myelomeningocele |
ORPHA:1914 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature |
ORPHA:2701 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short... |
OMIM:164200 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Ventriculomegaly, Choreoathetosis, Multicystic kidney dysplasia |
ORPHA:261197 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing... |
OMIM:257850 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Nance-Horan Syndrome |
|
Broad finger, Short phalanx of finger, Microphthalmia |
OMIM:302350 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Meningocele, Hydrocephal... |
ORPHA:567 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polycystic kidney d... |
OMIM:249000 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort... |
OMIM:613001 |
| ERI1-related disease |
|
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Tr... |
OMIM:608739 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Encephalocele, Hydrocephalus, Short stature, Ataxia |
ORPHA:381 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Hypertension, Cardiomyopathy, Apl... |
ORPHA:3472 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia, Hydrocephalus, Tricuspid regurgitation, Hypertrophic cardiomyopathy... |
ORPHA:2556 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Macrocephaly, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial... |
OMIM:162200 |
| Charge Syndrome |
|
Polydactyly, Aqueductal stenosis, Microphthalmia, Abnormal tibia morphology, Clinodactyly of the ... |
ORPHA:138 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... |
OMIM:174000 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... |
OMIM:302960 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... |
ORPHA:93259 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Macrocephaly, Unilateral microphthalmos |
OMIM:615085 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... |
ORPHA:363958 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Growth delay, Nephrocalcinosis, Ataxia, Aminoaciduria |
OMIM:616084 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Atrophy/Degeneration affecting the brainstem, Vesicoureteral reflux, Renal cyst, Microphallus, Sh... |
OMIM:618454 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S... |
OMIM:311900 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Hem... |
ORPHA:1855 |
| Odontochondrodysplasia 1 |
|
Short stature, Polycystic kidney dysplasia, Nephronophthisis, Mesomelic short stature |
OMIM:184260 |
| Fanconi Anemia, Complementation Group F |
|
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb, 2-3 finger syn... |
OMIM:603467 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Finger ... |
ORPHA:1001 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Multicystic kidney dysplasia, Agenesis of corpus callosum |
ORPHA:3301 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Ectopic kidney, Hypospadias, Hypoplasia of penis, Anencephaly, Renal age... |
ORPHA:887 |
| 19P13.12 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodac... |
ORPHA:254346 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand ... |
ORPHA:464 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... |
ORPHA:90652 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... |
ORPHA:710 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Broad-based gait, Polycystic kidney dysplasia, Vesicoureteral reflux, ... |
OMIM:606232 |
| Campomelia, Cumming Type |
|
Short stature, Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
| Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... |
ORPHA:18 |
| Mody |
|
Abnormality of the kidney, Abnormal circulating C-peptide concentration, Renal cyst, Glycosuria, ... |
ORPHA:552 |
| Galloway-Mowat Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Dand... |
OMIM:251300 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia |
ORPHA:2250 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Disproportionate short-limb short stature, Decreased growth hormone re... |
OMIM:101800 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M... |
OMIM:614701 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Meckel Syndrome, Type 7 |
|
Multiple glomerular cysts, Dandy-Walker malformation, Choroid plexus cyst, Pancreatic cysts, Stag... |
OMIM:267010 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Syndactyly, Brachyd... |
OMIM:615789 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t... |
ORPHA:1234 |
| Fliedner-Zweier Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis, Meningocele |
OMIM:620511 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowi... |
ORPHA:1005 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Increased circulating ferritin concentration, Elevated circulating creatinin... |
OMIM:619534 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Molar tooth sign on MRI, Nephronophthisis, Renal cortical cysts, Impaire... |
OMIM:610188 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Bladder Exstrophy |
|
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... |
ORPHA:93930 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macrocephaly, Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb |
OMIM:618874 |
| 2P15P16.1 Microdeletion Syndrome |
|
Gait disturbance, Growth delay, Hydronephrosis, Intrauterine growth retardation, Ventriculomegaly... |
ORPHA:261349 |
| Fraser Syndrome 3 |
|
Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of th... |
OMIM:617667 |
| Mirage Syndrome |
|
Hyperkalemia, Hypospadias, Hydrocephalus, Recurrent urinary tract infections, Microphallus, Short... |
OMIM:617053 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation, Decreased LDL cholesterol concentration, Elevated circu... |
ORPHA:79332 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Biparietal narrowing, ... |
ORPHA:2754 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Subependymal nodules, Athetosis, Communicating hydrocephalus, Ataxia, Chronic ... |
ORPHA:25 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Horseshoe kidney, Renal cyst, Short stature |
ORPHA:166035 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Holoprose... |
ORPHA:2166 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Microcephaly, Broad thumb, Camptodact... |
ORPHA:1236 |
| Mend Syndrome |
|
Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Aortic valve stenosis,... |
OMIM:300960 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Finger syndactyly, Congenital hip dislo... |
ORPHA:1647 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst |
OMIM:614862 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia |
OMIM:149000 |
| Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo... |
OMIM:142900 |
| Oliver Syndrome |
|
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi... |
ORPHA:2920 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Hydrocephalus, Proteinuria, Grade II vesico... |
OMIM:619377 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Hypoplasia of olfactory tract |
ORPHA:1791 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Abnormal renal morphology, Intrauterine growth retardat... |
ORPHA:314585 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial hypertension, ... |
OMIM:614437 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... |
ORPHA:284160 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Microcephaly, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum |
ORPHA:66629 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
| Vici Syndrome |
|
Renal tubular acidosis, Hypoplasia of the pons, Short stature, Ureteral atresia, Agenesis of corp... |
ORPHA:1493 |
| Toriello-Lacassie-Droste Syndrome |
|
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Growth delay, Age... |
ORPHA:3339 |
| Nephronophthisis 1 |
|
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... |
OMIM:256100 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Short stature, Ataxia, Communicating hydrocephalus |
ORPHA:1861 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcephaly, Microphthalmia, Simplified gyral pattern |
OMIM:152950 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Short stature, Growth delay, Hydronephrosis, Ab... |
ORPHA:1225 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... |
OMIM:231680 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... |
ORPHA:93599 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... |
ORPHA:96334 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia, Hypocholesterolemia, Hypoalbuminemia |
OMIM:608776 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Disproportionate short-trunk short statur... |
OMIM:608022 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
| Warburg Micro Syndrome 4 |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Cerebral cortical atro... |
OMIM:615663 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Micromelia |
ORPHA:2145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocep... |
OMIM:236670 |
| Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Unsteady gait, Multiple renal cysts, Agenesis... |
OMIM:618733 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly, Lethal short-limbed short stature, Abnormality of the kidney |
ORPHA:1860 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Inability to walk, Short stature, Colpocephaly, Ataxia, Congenital posterior urethra... |
OMIM:620083 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Renal cyst, Ovarian cyst, Eosinophilia, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Myelomeningocele, Spina bifida |
OMIM:193500 |
| Fryns Syndrome |
|
Hypospadias, Dandy-Walker malformation, Vesicoureteral reflux, Hydronephrosis, Agenesis of corpus... |
ORPHA:2059 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome... |
OMIM:600145 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Hypocalcemia, Short stature |
ORPHA:53 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
| Fanconi Anemia, Complementation Group N |
|
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb |
OMIM:610832 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, Severe short stature, Mild sho... |
OMIM:309900 |
| Nephrogenic Diabetes Insipidus |
|
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Short statu... |
ORPHA:223 |
| Multiple Sulfatase Deficiency |
|
Mucopolysacchariduria, Hydrocephalus, Short stature |
ORPHA:585 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Difficulty walking, Hydrocephalus, Dandy-Walker malformation, Hypocalcemia, Ataxia, Agenesis of c... |
OMIM:618476 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Spina bifida occulta, Hydrocephalus, Neurogenic bladder, Myelomeningocele, Short stature |
OMIM:613686 |
| Filippi Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... |
ORPHA:3255 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Cardiomyopathy, Microcephaly, Short palm, Syndactyly, Agenesis of co... |
OMIM:217980 |
| Fg Syndrome Type 1 |
|
Hypospadias, Small pituitary gland, Broad-based gait, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:93932 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... |
OMIM:600901 |
| Orofaciodigital Syndrome I |
|
Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha... |
OMIM:311200 |
| Transketolase Deficiency |
|
Elevated circulating ribitol concentration, Proportionate short stature, Renal cyst, Increased le... |
ORPHA:488618 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, A... |
OMIM:614230 |
| Atelis Syndrome 2 |
|
Microphthalmia, Single transverse palmar crease, Supravalvar pulmonary stenosis, Microcephaly, Pu... |
OMIM:620185 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Hyponatremia, Hypoplasia of the pons |
OMIM:620157 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Hip dysplasia, Microphthalmia, Hypoplasia of the corpus callosum |
ORPHA:494344 |
| 17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Short stature, Multicystic kidney dys... |
ORPHA:261265 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hydroceph... |
ORPHA:79282 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria... |
OMIM:277400 |
| Arachnoid Cyst |
|
Urinary incontinence, Inability to walk, Encephalocele, Hydrocephalus, Gait disturbance, Urinary ... |
ORPHA:2356 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... |
OMIM:104200 |
| Kbg Syndrome |
|
Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly |
ORPHA:2332 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Agenesis of corpus callosum, Int... |
OMIM:616258 |
| Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... |
ORPHA:158687 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont... |
ORPHA:468631 |
| Orofaciodigital Syndrome Xvi |
|
Ventriculomegaly, Molar tooth sign on MRI, Ataxia, Inability to walk |
OMIM:617563 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Ureteral duplication, Nephronophthisis, Rhizomelia, Renal dysplasia, Renal c... |
OMIM:266920 |
| Joubert Syndrome 10 |
|
Short stature, Molar tooth sign on MRI, Dysmetria, Growth delay |
OMIM:300804 |
| H Syndrome |
|
Delayed puberty, Abnormality of the kidney, Enlarged kidney, Hypertriglyceridemia, Hydrocephalus,... |
ORPHA:168569 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus, Hypospadias, Intrauterine growth retardation, Growth delay |
ORPHA:2409 |
| Nephronophthisis 4 |
|
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta... |
OMIM:606966 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Microcephaly, Aplasia of the 1s... |
OMIM:227646 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing... |
ORPHA:1323 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization |
OMIM:193220 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... |
ORPHA:79404 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Short stature, Hydronephrosis, Renal du... |
ORPHA:96169 |
| Miller-Dieker Lissencephaly Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Deep palmar crease, Clinodactyly of the 5th finge... |
OMIM:247200 |
| Wolfram Syndrome 1 |
|
Hydroureter, Neurogenic bladder, Growth delay, Hydronephrosis, Ataxia |
OMIM:222300 |
| Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter |
ORPHA:30 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... |
ORPHA:2973 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Microphthalmia, Biparietal narrowing |
ORPHA:1915 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Tuberous Sclerosis Complex |
|
Abnormality of the kidney, Subependymal nodules, Polycystic kidney dysplasia, Renal cell carcinom... |
ORPHA:805 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo... |
ORPHA:783 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f... |
ORPHA:2008 |
| Isolated Posterior Meningocele |
|
Difficulty walking, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresi... |
ORPHA:268810 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Unilateral renal agenesis, Proportionate short stature, Progressive v... |
ORPHA:500150 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia |
OMIM:612379 |
| Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Intrauterine growth retardation, Hypocholesterolemia, Hypospadias, Hydrocephalus, D... |
OMIM:270400 |
| Halperin-Birk Syndrome |
|
Semilobar holoprosencephaly, Inability to walk, Colpocephaly, Agenesis of corpus callosum, Intrau... |
OMIM:618651 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Microphthalmia, Anophthalmia, Unilateral microphthalmos, Absent tibia, Ha... |
OMIM:214800 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Polycystic kidney dysplasia, Dandy-Walker malformation, Pancreatic cysts, Ureter... |
OMIM:208540 |
| Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Microphthalmia, Atrial flutter, Wolff-Parkinson-White syndrome, Hydroce... |
ORPHA:137675 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intrauterine growth retardation, Aqueductal stenosis |
ORPHA:3035 |
| Apert Syndrome |
|
Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy... |
OMIM:101200 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Gait disturbance, Ataxia, Agenesis of corp... |
ORPHA:220493 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Hypospadias |
OMIM:601499 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
OMIM:184705 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Short stature, Renal h... |
OMIM:614527 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... |
OMIM:601005 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... |
ORPHA:83461 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Pentalogy Of Cantrell |
|
Anencephaly, Hypospadias, Encephalocele, Hydrocephalus, Renal agenesis, Renal dysplasia |
ORPHA:1335 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... |
OMIM:227650 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Apl... |
OMIM:308050 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... |
OMIM:113650 |
| Bohring-Opitz Syndrome |
|
Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo... |
OMIM:605039 |
| Desmosterolosis |
|
Renal hypoplasia/aplasia, Hydrocephalus, Renal agenesis, Growth delay, Severe short stature, Agen... |
ORPHA:35107 |
| Harrod Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, CSF lymphocytic pleiocytosis, Abnormal thalamus morphology... |
ORPHA:79139 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum |
ORPHA:268249 |
| Micro Syndrome |
|
Microphthalmia, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Pachygyria... |
ORPHA:2510 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Progressive mi... |
OMIM:617527 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
| Myhre Syndrome |
|
Short finger, Microphthalmia, Radial deviation of finger, Macrocephaly, Hypoplastic iliac wing, 2... |
OMIM:139210 |
| Igg4-Related Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu... |
ORPHA:449395 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum |
OMIM:234050 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormality of the urinary system, Communicating hydrocephalus |
ORPHA:2184 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Basal gangli... |
OMIM:127000 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, Umbilical hernia |
OMIM:616028 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Agene... |
ORPHA:306542 |
| Kabuki Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydroce... |
ORPHA:2322 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic... |
ORPHA:2237 |
| Monosomy 9Q22.3 |
|
Polydactyly, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calcification of falx cere... |
ORPHA:77301 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia |
OMIM:278730 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Decreased level of plasminogen |
ORPHA:722 |
| Knobloch Syndrome |
|
Hydrocephalus, Occipital encephalocele, Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... |
OMIM:305400 |
| D-Bifunctional Protein Deficiency |
|
Ventriculomegaly, Increased circulating very long-chain fatty acid concentration, Renal cyst |
OMIM:261515 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Macrocephaly, Slender long bone, Tibial bowing, Osteolytic defects of the distal ... |
OMIM:601812 |
| Craniopharyngioma |
|
Postnatal growth retardation, Delayed puberty, Enlarged pituitary gland, Hydrocephalus, Pituitary... |
ORPHA:54595 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Singl... |
OMIM:309801 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Urinary incontinence, Rhizomelia, Hydrocephalus, Severe short stature, Disproportionate short sta... |
OMIM:616482 |
| Bardet-Biedl Syndrome 1 |
|
Radial deviation of finger, Macrocephaly, Hypertension, Postaxial hand polydactyly, Foot polydact... |
OMIM:209900 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand |
ORPHA:1787 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Postnatal growth retardation, Short stature |
OMIM:616294 |
| Pearson Syndrome |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypokalemia,... |
ORPHA:699 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Thin corpus callosum, Tethered cord, Tapered finger, Spina bifida, Partial agenesis of the corpus... |
OMIM:619480 |
| Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Short stature, Hydronephrosis, Intrauterine growth retardation, Multicystic kidne... |
ORPHA:1297 |
| Cranioectodermal Dysplasia 3 |
|
Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndacty... |
OMIM:614099 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Vesicoureteral reflux, Renal cyst, Hypoplasia of the pons, Short stature, Intrauteri... |
OMIM:616975 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Aplasia/Hypoplasia of the corp... |
ORPHA:1512 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microcephaly, Microphthalmia, Anophthalmia |
ORPHA:2526 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Macrocephaly, Short hallux, Finger syndactyly, Hypertrophic cardi... |
ORPHA:1517 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrauterine growth retardation, Polycystic kidney dysplasia, Elevated circulating long chain fat... |
OMIM:214110 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, ... |
OMIM:151050 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers |
OMIM:618316 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia |
OMIM:618571 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Decreased thalamic volume, Communicating hydrocephalus, Short statu... |
ORPHA:168577 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias, Pineal cyst |
OMIM:617516 |
| Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
| Mucopolysaccharidosis, Type Vii |
|
Postnatal growth retardation, Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, ... |
OMIM:253220 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland |
OMIM:614195 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus |
OMIM:619320 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... |
OMIM:619762 |
| 19Q13.11 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Microcephaly, Toe ... |
ORPHA:217346 |
| Adnp Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Polydactyly, Focal white matter lesions, San... |
ORPHA:404448 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Renal insufficiency, Partial agenesis of the corpu... |
OMIM:617478 |
| Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Hydronephrosis, Agenesis of corpus callosum, Communicating hydro... |
ORPHA:1780 |
| Holoprosencephaly 14 |
|
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... |
OMIM:619895 |
| Ureterocele |
|
Ureterocele, Duplicated collecting system |
OMIM:191650 |
| Jacobsen Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Holopr... |
OMIM:147791 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia, Renal cell ... |
ORPHA:93111 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Hydrocephalus, Polycystic kidney dysplasia, Renal cyst, Short stature |
OMIM:102500 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Renal cyst, Short stature, Nephritis, Proteinuria, Conjugated hyperbilirubinemi... |
OMIM:208500 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Inability to walk, Hydrocephalus, Nephrotic syndrome, Proteinuria, Hypoalbuminem... |
ORPHA:505248 |
| Ring Chromosome 12 Syndrome |
|
Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly |
ORPHA:1439 |
| Raine Syndrome |
|
Hydroureter, Hydrocephalus, Short stature, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
| Proboscis Lateralis |
|
Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp... |
ORPHA:141099 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch... |
OMIM:113620 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Dandy-Walker malformation, Short stature, Growth delay, Holoprosencephaly, Nephroblastoma, Ventri... |
ORPHA:1052 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Encephalocele, Finger syndactyly, Polymicrogyria, Broad thumb, Broad ... |
ORPHA:2211 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Horseshoe kidney, Renal cyst |
OMIM:250410 |
| Chromosome 13Q14 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve... |
OMIM:613884 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2710 |
| Oeis Complex |
|
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv... |
OMIM:258040 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Cri-Du-Chat Syndrome |
|
Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc... |
OMIM:123450 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Hypospadias, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Lateral ve... |
OMIM:607872 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Hyperc... |
ORPHA:369837 |
| Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, Intrauterine growth retardation,... |
OMIM:269860 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia |
OMIM:610256 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Cerebellar vermi... |
ORPHA:314679 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Postnatal growth retardation, Short stature, Colpocephaly, Agenesis of corpus callosum, Intrauter... |
OMIM:620113 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:618619 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Microphthalmia, Pachygyria |
ORPHA:2328 |
| Frontonasal Dysplasia 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, M... |
OMIM:613451 |
| Ellis Van Creveld Syndrome |
|
Epispadias, Abnormality of the kidney, Neonatal short-limb short stature, Renal hypoplasia/aplasi... |
ORPHA:289 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Hypopituitarism, Hypercholesterolemia |
ORPHA:90065 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Abnormal renal morphology, Athetosis |
OMIM:239300 |
| 8Q22.1 Microdeletion Syndrome |
|
Microcephaly, Camptodactyly of finger, Finger syndactyly, Sandal gap |
ORPHA:178303 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Growth delay, Renal hypoplasia, Intrauterine growth ret... |
OMIM:614083 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... |
OMIM:268310 |
| Noonan Syndrome 9 |
|
Short stature, Hydroureter |
OMIM:616559 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Acromelic Frontonasal Dysostosis |
|
Hypoplasia of the corpus callosum, Patellar hypoplasia, Encephalocele, Cavum septum pellucidum, T... |
OMIM:603671 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Biparietal... |
ORPHA:2612 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Hydrocephalus, Short stature, Renal hypoplasia, Intrauterine growth retardation, Microp... |
OMIM:619321 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Hydrolethalus Syndrome 1 |
|
Microphthalmia, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergro... |
OMIM:236680 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Microcephaly, Aplasia of the distal... |
ORPHA:364577 |
| Opitz-Kaveggia Syndrome |
|
Postnatal macrocephaly, Radial deviation of finger, Hydrocephalus, Single transverse palmar creas... |
OMIM:305450 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Hydrocephalus, Enuresis, Short stature, Growth delay, Hyd... |
ORPHA:96121 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hyp... |
ORPHA:457284 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, CSF lymphocytic pleiocytosis, Increased CSF protein conc... |
ORPHA:68 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Poland Syndrome |
|
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi... |
ORPHA:2911 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Renal agenesis, Anencephaly, Hypospadias |
OMIM:313850 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial hand polydactyly, Microcephaly, Postaxial polydactyly, Agenesis of corpus c... |
OMIM:174300 |
| Cole-Carpenter Syndrome 1 |
|
Hydrocephalus, Short stature, Communicating hydrocephalus |
OMIM:112240 |
| Zellweger Syndrome |
|
Short stature, Hydronephrosis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:912 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Short stature, Urolit... |
OMIM:300661 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t... |
OMIM:227645 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short stature, Lateral ventricle dilatation |
OMIM:618367 |
| Joubert Syndrome |
|
Hydrocephalus, Gait disturbance, Ataxia, Encephalocele |
ORPHA:475 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Alobar holop... |
OMIM:610828 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe... |
ORPHA:35173 |
| Monosomy 18Q |
|
Hydrocephalus, Short stature, Growth delay, Secondary growth hormone deficiency, Choreoathetosis,... |
ORPHA:1600 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Communicating hydrocephalus, Ovarian cyst, Ventriculo... |
OMIM:618188 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Pierson Syndrome |
|
Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypertension, Retinal h... |
OMIM:609049 |
| Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... |
OMIM:105120 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... |
ORPHA:105 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia, Short stature, Hydronephrosis, Micr... |
ORPHA:163979 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly |
OMIM:614800 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal pituitary gland morphology, Abnormal midbrain morphology, Short stature, ... |
ORPHA:314621 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Increased circulating thyroglobulin concentration, Polycystic kidney dysplasia, Renal cyst, Intra... |
OMIM:610199 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Ataxia, Agenesis of corpus callosum |
ORPHA:58 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... |
OMIM:300895 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation, Intrauterine growth retardation |
OMIM:612938 |
| Immunodeficiency 96 |
|
Growth delay, Multicystic kidney dysplasia |
OMIM:619774 |
| Codas Syndrome |
|
Short stature, Hydroureter |
ORPHA:1458 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Radial deviation of finger, Anophthalmia, Short clavicles, Prominent fingertip pa... |
OMIM:309800 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Syndactyly |
OMIM:616430 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Hematuria, Hydrocephalus, Multiple renal cysts, Abnormal urinary color, Renal ang... |
ORPHA:538 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:600740 |
| Alveolar Echinococcosis |
|
Abnormal bladder morphology, Renal cyst, Ataxia, Eosinophilia, Pancreatic cysts, Hepatic cysts |
ORPHA:284 |
| Genitopatellar Syndrome |
|
Short stature, Hydronephrosis, Multicystic kidney dysplasia, Agenesis of corpus callosum |
ORPHA:85201 |
| Nephronophthisis 11 |
|
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Renal tubular... |
OMIM:613550 |
| Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Short ... |
OMIM:122470 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Elongated superior cerebellar peduncle, Hydrocephalus, Hypoplasia of the pon... |
OMIM:619512 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microcephaly, Microphthalmia, Basal ganglia calcification |
OMIM:610651 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Prolonged QT interval, Optic nerve hypoplasia, Pulmonary arterial h... |
OMIM:620029 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature |
OMIM:187600 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum |
OMIM:612940 |
| Bladder Exstrophy And Epispadias Complex |
|
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney |
OMIM:600057 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Lateral Meningocele Syndrome |
|
Hydrocephalus, Neurogenic bladder, Short stature, Meningocele |
OMIM:130720 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Broad-based gait, Inability to w... |
ORPHA:261537 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Macrocephaly, Short 4th metacarpal, Hip subl... |
ORPHA:221120 |
| Grange Syndrome |
|
Renovascular hypertension, Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Orofaciodigital Syndrome Type 14 |
|
Epispadias, Molar tooth sign on MRI, Dandy-Walker malformation, Dilated third ventricle, Dilated ... |
ORPHA:434179 |
| Hallermann-Streiff Syndrome |
|
Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Cerebella... |
ORPHA:2108 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,... |
ORPHA:158684 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Hypospadias, Choroid plexus cyst, Nephrolithiasis, Renal cyst, Abnormality of... |
ORPHA:798 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Smith-Lemli-Opitz Syndrome |
|
Renal hypoplasia/aplasia, Rhizomelia, Hypospadias, Hypoplasia of penis, Short stature, Growth del... |
ORPHA:818 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Renal insufficiency, Increased blood urea nitrogen, Proteinuria, M... |
OMIM:233450 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac... |
OMIM:616734 |
| Radio-Renal Syndrome |
|
Renal hypoplasia/aplasia, Renal agenesis, Severe short stature, Renal dysplasia, Multicystic kidn... |
ORPHA:3015 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
| Tuberous Sclerosis 1 |
|
Subependymal nodules, Renal cell carcinoma, Renal angiomyolipoma, Renal cyst |
OMIM:191100 |
| Desmosterolosis |
|
Elevated circulating desmosterol concentration, Rhizomelia, Hydrocephalus, Abnormal circulating c... |
OMIM:602398 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... |
ORPHA:99880 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:612582 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
| Momo Syndrome |
|
Bilateral microphthalmos, Macrocephaly, Femoral bowing, Short sternum, Large hands, Congenital ps... |
ORPHA:2563 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Aqueductal stenosis, Unilateral renal agenesis, Short stature |
OMIM:154400 |
| Developmental And Epileptic Encephalopathy 31B |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:620352 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Meningioma |
|
Enlarged pituitary gland, Urinary incontinence, Difficulty walking, Reduced circulating prolactin... |
ORPHA:2495 |
| Hurler Syndrome |
|
Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, Urinary glycosaminoglycan excr... |
OMIM:607014 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Neonatal short-limb short stature, Severe short stature, Encephalocele |
OMIM:224400 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat... |
OMIM:300968 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Parathyroid Carcinoma |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... |
ORPHA:143 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Polymicrogyria, Syndactyly, Umbilical hernia |
OMIM:614520 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hypospadias, Agenesis of corpus callosum |
OMIM:123790 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| X Small Rings |
|
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe... |
ORPHA:96201 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
| Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv... |
OMIM:619297 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter, Renal agenesis, I... |
OMIM:200980 |
| Peters Plus Syndrome |
|
Postnatal growth retardation, Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Spina ... |
ORPHA:709 |
| Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysplastic corpus callosum |
OMIM:617281 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal renal tubule morphology, Delayed puberty, Glomerulopathy, Hematuria, Hypercholesterolemi... |
ORPHA:534 |
| Tuberous Sclerosis 2 |
|
Subependymal nodules, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Absence of renal co... |
OMIM:613254 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Hypertension, Micromelia, Broa... |
ORPHA:87 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br... |
ORPHA:503 |
| Tetrasomy 5P |
|
Hydrocephalus, Postnatal growth retardation |
ORPHA:3309 |
| Hamamy Syndrome |
|
Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl... |
OMIM:611174 |
| Dubowitz Syndrome |
|
Postnatal growth retardation, Hypospadias, Spina bifida occulta, Hydrocephalus, Short stature, Hy... |
ORPHA:235 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts |
ORPHA:1190 |
| Medulloblastoma |
|
Progressive cerebellar ataxia, Hydrocephalus, Cerebellar ataxia associated with quadrupedal gait,... |
ORPHA:616 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Broad-based gait, Dandy-Walker malformation, Renal cyst, Hypoplasia of the pons |
ORPHA:495875 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Broad-based gait, Inability to w... |
ORPHA:261552 |
| Renal Agenesis |
|
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... |
ORPHA:411709 |
| Congenital Syphilis |
|
Nephrotic syndrome, CSF pleocytosis, Hydrocephalus, Intrauterine growth retardation |
ORPHA:499009 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... |
OMIM:617925 |
| Mckusick-Kaufman Syndrome |
|
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Short stature, Hydrone... |
ORPHA:2473 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Enlarged kidney, Hydrocephalus, Myelomeningocele, Renal agenesis, Horseshoe ... |
OMIM:306955 |
| Congenital Myopathy 22A, Classic |
|
Mildly elevated creatine kinase, Normal pressure hydrocephalus, Waddling gait |
OMIM:620351 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Syndactyly, Encephalocele |
OMIM:217100 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phala... |
OMIM:263650 |
| Mucopolysaccharidosis Type 1 |
|
Mucopolysacchariduria, Hydrocephalus, Short stature |
ORPHA:579 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts |
OMIM:606995 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic ... |
OMIM:133540 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Ventriculomegaly, Vesicoureteral reflux |
OMIM:618548 |
| Schwartz-Jampel Syndrome |
|
Nephrolithiasis, Gait disturbance, Abnormality of the ureter, Short stature, Elevated circulating... |
ORPHA:800 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Tarp Syndrome |
|
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Abnormal corpus callosum ... |
ORPHA:2886 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Panh... |
ORPHA:91350 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Abnormal renal morphology |
OMIM:207410 |
| Choreoacanthocytosis |
|
Loss of ambulation, Elevated circulating creatine kinase concentration, Lateral ventricle dilatat... |
ORPHA:2388 |
| Peutz-Jeghers Syndrome |
|
Bladder polyp, Ovarian cyst, Abnormality of the ureter |
OMIM:175200 |
| Persistent Hyperplastic Primary Vitreous |
|
Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye |
ORPHA:91495 |
| Osteopathia Striata With Cranial Sclerosis |
|
Spina bifida occulta, Hydrocephalus, Short stature, Multicystic kidney dysplasia, Partial agenesi... |
OMIM:300373 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Dandy-Walker malformation, Renal cyst, Renal agenesis, Hydrone... |
OMIM:229850 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Cerebral atrophy, Macrocephaly, Radial deviation of finger, Sandal gap, Tethered cord, Supravalva... |
OMIM:618164 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus, Hyponatremia, Hypoplasia of the pons |
OMIM:620155 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Megacystis, Hydroureter, Multicystic kidney dysplasia |
ORPHA:2241 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos |
OMIM:221900 |
| Legius Syndrome |
|
Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial t... |
ORPHA:137605 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Hydronephrosis, Short stature |
ORPHA:1340 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Hydronephrosis, Short stature |
OMIM:115150 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... |
OMIM:613159 |
| Noonan Syndrome 4 |
|
Short stature, Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hydroureter, Spina bifida occulta, Pelvic kidney, Vesicoureteral reflux, Short stature, Hydroneph... |
OMIM:300707 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Whipple Disease |
|
Hydrocephalus, Hyponatremia, Ataxia |
ORPHA:3452 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma |
OMIM:617107 |
| Aicardi Syndrome |
|
Microphthalmia, Polymicrogyria, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum... |
ORPHA:50 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5... |
OMIM:608670 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Dubowitz Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th... |
OMIM:223370 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... |
ORPHA:958 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension, Portal hypertension, Microcephaly, Hip dysplasia... |
OMIM:620005 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... |
ORPHA:79403 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Polycystic ovaries, Communicating hydrocephalus |
ORPHA:2969 |
| Hurler Syndrome |
|
Mucopolysacchariduria, Growth delay, Hydrocephalus, Short stature |
ORPHA:93473 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Hypocalcemia, Hyperbilirubinemia, Short stature, Growth delay, Ventriculomegaly |
OMIM:259720 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... |
OMIM:277000 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... |
ORPHA:672 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna... |
OMIM:148050 |
| Trichothiodystrophy 1, Photosensitive |
|
Microcephaly, Microphthalmia, Telangiectasia |
OMIM:601675 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Acrocallosal Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tape... |
OMIM:200990 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Dural Sinus Malformation |
|
Hydrocephalus, Ataxia, Myelopathy |
ORPHA:97339 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Renal dysplasia... |
OMIM:614080 |
| 1P36 Deletion Syndrome |
|
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Gait disturbance, Short ... |
ORPHA:1606 |
| Aymé-Gripp Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Proteinuria, Ventriculomegaly |
ORPHA:1272 |
| Microphthalmia/Coloboma 12 |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Gait disturbance, Mucopolysacchariduria, Ataxia, Loss of ambulation, Ventriculomeg... |
ORPHA:581 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Severe short stature, Encephalocele |
ORPHA:1865 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Hypocalcemia |
OMIM:259700 |
| Carpenter Syndrome 1 |
|
Short stature, Hydronephrosis, Hydroureter, Spina bifida occulta |
OMIM:201000 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... |
ORPHA:989 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Macrocephaly, Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Mesom... |
OMIM:616894 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, T... |
OMIM:268400 |
| Trisomy 8P |
|
Hydrocephalus, Dandy-Walker malformation, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Ag... |
ORPHA:264450 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Renal insufficiency, Severe postnatal growth retardation, Gait dis... |
OMIM:216400 |
| Penile Agenesis |
|
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... |
ORPHA:49 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod... |
ORPHA:2215 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Waddling gait, Inability to walk |
ORPHA:457212 |
| Floating-Harbor Syndrome |
|
Hypospadias, Broad-based gait, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Short sta... |
ORPHA:2044 |
| Monosomy 9P |
|
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Postaxia... |
ORPHA:261112 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplas... |
OMIM:620654 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele, Ataxia, Gait disturbance |
OMIM:614863 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ... |
OMIM:620025 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Hypospadias, Urogenital sinus anomaly, Chordee, Colpocephaly, Holopro... |
OMIM:618820 |
| Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, Lobar holopros... |
OMIM:615465 |
| Townes-Brocks Syndrome 1 |
|
Metatarsal synostosis, Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydroc... |
OMIM:107480 |
| Achondroplasia |
|
Hydrocephalus, Rhizomelia, Neonatal short-limb short stature, Brain stem compression |
OMIM:100800 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... |
ORPHA:280633 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Unilateral renal agenesis, Hypospadias, Hydrocephalus, Abnormality of the urinar... |
ORPHA:95699 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Witteveen-Kolk Syndrome |
|
Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac... |
OMIM:613406 |
| Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ... |
ORPHA:2750 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Ataxia, Short stature |
ORPHA:220295 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Cerebral atrophy, Polydactyly, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomy... |
ORPHA:17 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Hajdu-Cheney Syndrome |
|
Delayed puberty, Hypospadias, Hydrocephalus, Short stature, Multiple renal cysts |
ORPHA:955 |
| Traboulsi Syndrome |
|
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux |
OMIM:601552 |
| Coccidioidomycosis |
|
Abnormality of the kidney, Hydrocephalus, Abnormality of the bladder, CSF lymphocytic pleiocytosi... |
ORPHA:228123 |
| Trisomy 10P |
|
Abnormality of the kidney, Dandy-Walker malformation, Growth delay, Multiple renal cysts, Intraut... |
ORPHA:171929 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Disproportionate short-limb short stature, Hypoplasia of penis, Dandy-Walker malformation, Renal ... |
ORPHA:93271 |
| Cole-Carpenter Syndrome |
|
Intrauterine growth retardation, Short stature, Communicating hydrocephalus |
ORPHA:2050 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hydrocephalus, Lateral ventricular asymmetry, Intrauterine growth retardation |
OMIM:616914 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:606519 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Short 5th finger, Long t... |
ORPHA:508488 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, Gait ataxia, Colpocephaly, Dysmetria |
ORPHA:75857 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Tibial bowing, Microcephaly, Metaphyseal widening, Phthisis bulbi |
OMIM:259770 |
| Wilson Disease |
|
Face of the giant panda sign, Increased urinary copper concentration, Decreased circulating cerul... |
OMIM:277900 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Postnatal macrocephaly, Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening o... |
ORPHA:93325 |
| Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Short stature, Growth delay, ... |
ORPHA:96149 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Enlarged kidney |
OMIM:261740 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... |
OMIM:269500 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Growth delay |
OMIM:616007 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia |
ORPHA:65285 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Postnatal growth retardation, Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Ventri... |
OMIM:269150 |
| Norrie Disease |
|
Buphthalmos, Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
| Au-Kline Syndrome |
|
Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Lipomyelomeningo... |
OMIM:616580 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Hypoplasia of the brainstem, Fusion of the lef... |
OMIM:619306 |
| Cat Eye Syndrome |
|
Pulmonic stenosis, Microphthalmia, Absent radius, Umbilical hernia |
OMIM:115470 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, Dispropor... |
OMIM:253200 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia, Abnormal digit morpholog... |
ORPHA:95494 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:1507 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia |
OMIM:612109 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ... |
OMIM:265000 |
| Icf Syndrome |
|
Short stature, Communicating hydrocephalus |
ORPHA:2268 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperlipidemia, Enuresis,... |
ORPHA:293987 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Dandy-Walker malformation, H... |
ORPHA:373 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:2306 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Pancreatic cysts, Multiple renal cysts |
ORPHA:464329 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Facial telangiectasia in butterfly midface distribu... |
OMIM:210900 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Branchial anom... |
OMIM:164210 |
| Osteogenesis Imperfecta |
|
Rhizomelia, Hypercalciuria, Hydrocephalus, Nephrolithiasis, Gait disturbance, Short stature, Grow... |
ORPHA:666 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI, Ataxia |
OMIM:612291 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Okamoto Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Syringomyelia, Abnormally large globe, Tethered c... |
ORPHA:2729 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Colpocephaly |
ORPHA:261250 |
| Holoprosencephaly 1 |
|
Microphthalmia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum... |
OMIM:236100 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Spina bifida occulta, Finger syndactyly, Microcephaly, Camptodactyly of finger, Symphalangism aff... |
ORPHA:2990 |
| Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone... |
OMIM:101400 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar cr... |
OMIM:612474 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Fetal megacystis |
OMIM:619362 |
| Degcags Syndrome |
|
Polydactyly, Microphthalmia, Genu valgum, Talipes equinovarus, Pulmonary arterial hypertension, M... |
OMIM:619488 |
| Orofaciodigital Syndrome Xiv |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Cerebellar verm... |
OMIM:615948 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... |
OMIM:268300 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Macrocephaly, Abnormal metacarpal morphology, Hydrocephalus, Fing... |
ORPHA:2658 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Polydactyly, Slender long bone, Hypoplastic pelvis |
OMIM:612731 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... |
ORPHA:731 |
| Stolerman Neurodevelopmental Syndrome |
|
Broad palm, Clinodactyly of the 5th finger, Syndactyly |
OMIM:618505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microphthalmia, Buphthalmos, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, ... |
OMIM:253280 |
| Ogden Syndrome |
|
Postnatal growth retardation, Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, S... |
OMIM:300855 |
| Distal Deletion 15Q |
|
Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Short stature, Growth de... |
ORPHA:1596 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| 15q26 overgrowth syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... |
DECIPHER:81 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:137667 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t... |
OMIM:263750 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
| Gaucher Disease |
|
Delayed puberty, Decreased HDL cholesterol concentration, Hematuria, Elevated circulating C-react... |
ORPHA:355 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Saethre-Chotzen Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... |
ORPHA:794 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypoplasia of the corpus callosum, Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aort... |
ORPHA:268261 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Macrocephaly, Rhizomelia, Hypertension, Postaxial hand polydactyly, Mesomelia, Synda... |
OMIM:613610 |
| Carpenter Syndrome 2 |
|
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... |
OMIM:614976 |
| Familial Visceral Myopathy |
|
Megacystis, Vesicoureteral reflux, Hydroureter |
ORPHA:2604 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Spina bifida occulta, Bifid ureter, Nephroblastoma, Renal malrotation, Multicyst... |
ORPHA:500095 |
| Incontinentia Pigmenti |
|
Microcephaly, Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage |
OMIM:308300 |
| Trichothiodystrophy |
|
Periventricular leukomalacia, Bilateral microphthalmos, Cerebral dysmyelination, Clubbing, Cardio... |
ORPHA:33364 |
| Cerebrocostomandibular Syndrome |
|
Postnatal growth retardation, Horseshoe kidney, Ectopic kidney, Renal cyst |
OMIM:117650 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydronephrosis, Hydroureter |
OMIM:619431 |
| Cockayne Syndrome Type 3 |
|
Difficulty walking, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia,... |
ORPHA:90324 |
| Phace Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corp... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed puberty, Tip-toe gait, Hematuria, Hypospadias, Broad-based gait, Hydrocephalus, Falls, Hy... |
OMIM:619475 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Difficulty walking, Gait ataxia, Communicating hydrocephalus, Ventriculomegaly, Micropenis |
ORPHA:457359 |
| Neuroocular Syndrome |
|
Periventricular leukomalacia, Microphthalmia, Deep palmar crease, Clinodactyly of the 5th finger,... |
OMIM:619539 |
| Tetrasomy 9P |
|
Hydrocephalus, Dandy-Walker malformation, Recurrent urinary tract infections, Intrauterine growth... |
ORPHA:3310 |
| Fontaine Progeroid Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Deep palmar crease, Cerebellar vermis hypoplas... |
OMIM:612289 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Cardiomyopathy, Flat acetabular roof, Microcephaly, A... |
OMIM:216340 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Brachydactyly, Narrow joint sp... |
ORPHA:96182 |
| Prader-Willi Syndrome |
|
Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Syndact... |
OMIM:176270 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Ventriculomegaly, Short stature, Hypoplasia of the midbrain |
OMIM:616202 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Renal cortical cysts, Dandy-Walker malformation, Vesicoureteral reflux, Nephroli... |
OMIM:130650 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Growth delay, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract |
ORPHA:2995 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Renal neoplasm, Postnatal growth retardation |
ORPHA:536467 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Polycystic kidney dysplasia, Short stature, Renal hypoplasia, In... |
ORPHA:84064 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Renal agenesis, Urethral atresia |
OMIM:273395 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Rhizomelia, Short stature |
OMIM:245600 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... |
ORPHA:353277 |
| Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Decreased response to growth hormone stimulation test, Small pituitary g... |
OMIM:619476 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux... |
OMIM:118450 |
| Cornelia De Lange Syndrome |
|
Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Severe postnatal... |
ORPHA:199 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Neurogenic bl... |
ORPHA:110 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Unilateral renal agenesis |
ORPHA:261337 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Ataxia, Multiple... |
ORPHA:904 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly, Decreased response to growth hormone stimulation test, Hydroureter, ... |
OMIM:129900 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Broad thumb, Toe... |
ORPHA:857 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Chordee, Colpocephaly, Hypospadias |
ORPHA:477993 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Hyd... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Hyd... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Hyd... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Hyd... |
ORPHA:93924 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Cortical dysplasia, P... |
OMIM:175780 |
| Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic... |
ORPHA:96123 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Intrauterine growth retardation |
ORPHA:1556 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Disproportionate short-trunk short stature, Renal cyst |
OMIM:272460 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Short stature, Hydronephrosis, Int... |
OMIM:616462 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Decreased response to growth hormone stimulation test, Hydroureter, Duplicated collecting system,... |
OMIM:604292 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Rhizomelia |
OMIM:618162 |
| Renpenning Syndrome 1 |
|
Cerebral atrophy, Microphthalmia, Clinodactyly of the 5th finger, Camptodactyly, Microcephaly, Sy... |
OMIM:309500 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hypospadias, Hydroce... |
ORPHA:3455 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Caroli Syndrome |
|
Polycystic kidney dysplasia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormality of th... |
ORPHA:480520 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
| Mosaic Trisomy 16 |
|
Large placenta, Single transverse palmar crease, Short forearm, Syndactyly, Short femoral neck, S... |
ORPHA:1708 |
| C Syndrome |
|
Renal cortical cysts, Short stature |
OMIM:211750 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... |
ORPHA:352665 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Short stature, Hydronephrosis... |
ORPHA:363700 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Peters-Plus Syndrome |
|
Postnatal growth retardation, Ureteral duplication, Rhizomelia, Hypospadias, Disproportionate sho... |
OMIM:261540 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short greater sciatic notch, Cardiomyopathy, Flared iliac wing, Pul... |
OMIM:312870 |
| Cockayne Syndrome |
|
Cerebral atrophy, Microphthalmia, Cerebral dysmyelination, Progressive microcephaly, Cerebral cal... |
ORPHA:191 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... |
OMIM:227330 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... |
ORPHA:116 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hypospadias, Recurrent urinary tract infections, Anterior pituitary hypoplasia, Communicating hyd... |
OMIM:619841 |
| Diphallia |
|
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Distal ure... |
ORPHA:227 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Disproportionate short-limb short stature, Bilateral rena... |
OMIM:619194 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Subcortical cerebral atrophy, Postaxial hand polydactyly, Split hand, Micromel... |
ORPHA:2753 |
| Robinow Syndrome |
|
Macrocephaly, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the... |
ORPHA:97360 |
| Full Nf2-Related Schwannomatosis |
|
Hydrocephalus, Unsteady gait, Myelopathy, Brain stem compression |
ORPHA:637 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Single transverse palmar crease, Branchial cyst, Pulmonary arterial hypertension,... |
OMIM:620186 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Dand... |
ORPHA:480880 |
| Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Oligosacchariduria, Ataxia, Communicating hydrocephalus |
ORPHA:309282 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Hydrocephalus, Severe postnatal growth retardation, Short stature, Growth delay, Age... |
OMIM:194190 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short stature, Hydroureter |
OMIM:610759 |
| Marshall-Smith Syndrome |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature |
OMIM:602535 |
| Autosomal Dominant Robinow Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short pal... |
ORPHA:3107 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc... |
OMIM:309000 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Gr... |
OMIM:304150 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
| Adult Syndrome |
|
Split foot, Toe syndactyly, Finger syndactyly |
ORPHA:978 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Hydronephrosis, Hydroureter, Horseshoe kidney |
OMIM:619426 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Hydroureter |
OMIM:305620 |
| Alstrom Syndrome |
|
Polydactyly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:203800 |
| Costello Syndrome |
|
Hydrocephalus, Ventriculomegaly, Renal insufficiency, Short stature |
OMIM:218040 |
| Rapp-Hodgkin Syndrome |
|
Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly |
OMIM:129400 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Limb ataxia, Broad-based gait, Hydrocephalus, Growth delay, Ventriculomegaly |
ORPHA:2072 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Cardiomyopathy |
ORPHA:769 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ... |
ORPHA:2036 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... |
ORPHA:892 |
| Coffin-Siris Syndrome 1 |
|
Postnatal growth retardation, Hydroureter, Ectopic kidney, Hypospadias, Spina bifida occulta, Dan... |
OMIM:135900 |
| Limb-Mammary Syndrome |
|
Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy... |
ORPHA:69085 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Ventriculomegaly, Communicating hydrocephalus |
OMIM:617011 |
| Mullegama-Klein-Martinez Syndrome |
|
Microcephaly, Polydactyly, Clinodactyly of the 5th finger |
OMIM:301022 |
| Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Abnormality of the ureter |
ORPHA:141127 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Loeys-Dietz Syndrome 2 |
|
Dural ectasia, Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arac... |
OMIM:610168 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypospadias, Long penis, Hydrocephalus, Dandy-Walker malformation, Truncal ... |
OMIM:264090 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
| Frontometaphyseal Dysplasia |
|
Spina bifida occulta, Growth delay, Ureteral obstruction, Hydronephrosis, Urethral stenosis |
ORPHA:1826 |
| Alg9-Cdg |
|
Enlarged kidney, Rhizomelia, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephrosi... |
ORPHA:79328 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Hypospadias, Renal agenesis, Short stature, Growth delay, Renal dyspla... |
OMIM:308205 |
| Hardikar Syndrome |
|
Hydroureter, Recurrent urinary tract infections, Hyperbilirubinemia, Vesicoureteral reflux, Short... |
OMIM:301068 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Colpocephaly, Agenesis of corpus callosum, Micropenis |
OMIM:606170 |
| Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the radius, Corneal neovascularization, Abnormal thumb morphology, Finger syndactyl... |
ORPHA:2363 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Choroid plexus cyst, Dilatation of the bladder, Hydronephrosis, Ventric... |
OMIM:265380 |
| Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Microcephaly, Holoprosence... |
OMIM:157170 |
| Eec Syndrome |
|
Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr... |
ORPHA:1896 |
| Early Infantile Epileptic Encephalopathy |
|
Episodic ataxia, Ureterocele, Renal dysplasia, Choreoathetosis, Micropenis |
ORPHA:1934 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Neurofibromatosis Type 1 |
|
Delayed puberty, Hydrocephalus, Abnormality of the upper urinary tract, Short stature, Ataxia |
ORPHA:636 |
| Shprintzen-Goldberg Syndrome |
|
Ventriculomegaly, Communicating hydrocephalus |
ORPHA:2462 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
| Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Broad... |
ORPHA:2152 |
| Treacher-Collins Syndrome |
|
Microphthalmia, Branchial fistula, Encephalocele |
ORPHA:861 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Gait disturbance, Short stature |
ORPHA:3042 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of... |
ORPHA:2907 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Macrocephaly, Hippocampal atrophy, Slender finger, Microcephaly, Broad thumb, Ra... |
OMIM:619325 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Brachydactyly, Down-sloping shoulders |
ORPHA:1974 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Hypophosphatemia, Hypocalcemia, Growth delay |
ORPHA:667 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... |
ORPHA:79500 |
| C Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney |
ORPHA:1308 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl... |
OMIM:617088 |
| Chand Syndrome |
|
Hydroureter, Ataxia |
ORPHA:1401 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Short stature, Tip-toe gait, Hydroureter |
OMIM:620450 |
| Ulbright-Hodes Syndrome |
|
Postnatal growth retardation, Polycystic kidney dysplasia, Severe intrauterine growth retardation... |
ORPHA:3404 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Toe... |
OMIM:620330 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyly |
ORPHA:1521 |
| Baller-Gerold Syndrome |
|
Abnormality of the kidney, Spina bifida occulta, Hydrocephalus, Severe intrauterine growth retard... |
OMIM:218600 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Short toe, Brachydactyly, Ar... |
ORPHA:1519 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Intrauterine growth retardation, Renal hypoplasia, Ureteral duplication, Ureteral stenosis |
OMIM:270100 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, A... |
OMIM:609192 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, S... |
ORPHA:2636 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Proteus Syndrome |
|
Macrodactyly, Macrocephaly, Sirenomelia, Abnormality of the wrist, Clinodactyly of the 5th finger... |
ORPHA:744 |
| Pallister-Killian Syndrome |
|
Rhizomelia, Hypospadias, Inability to walk, Mesomelic/rhizomelic limb shortening, Renal cyst, Gro... |
OMIM:601803 |
| Sotos Syndrome |
|
Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re... |
ORPHA:821 |
| Mowat-Wilson Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Aplasia/Hypoplasia of the cerebral white matte... |
OMIM:235730 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Growth delay, Hyd... |
ORPHA:2273 |
| Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Urethral diverticulum |
OMIM:212093 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Intrauterine growth retardation |
OMIM:208150 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Norrie Disease |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Microcephaly, Cerebral co... |
ORPHA:649 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:1071 |
| Mucopolysaccharidosis Type 2 |
|
Short stature, Growth delay, Communicating hydrocephalus |
ORPHA:580 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intrauterine growth retardation, Ureteral duplication, Anterior pituitary agenesis |
ORPHA:2255 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short... |
ORPHA:2908 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pachygyria |
ORPHA:2136 |
| Pmm2-Cdg |
|
Abnormal renal tubule morphology, Dandy-Walker malformation, Reduced thyroxin-binding globulin, N... |
ORPHA:79318 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intrauterine growth retardation, Glycosuria, Ureteral duplication |
OMIM:600001 |
| Restrictive Dermopathy 1 |
|
Intrauterine growth retardation, Ureteral duplication, Hypospadias |
OMIM:275210 |
| Restrictive Dermopathy |
|
Intrauterine growth retardation, Ureteral duplication, Hypospadias |
ORPHA:1662 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
