| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... |
OMIM:613885 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... |
OMIM:251255 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Mmep Syndrome |
|
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia |
ORPHA:291 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphtha... |
OMIM:616570 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:164180 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... |
OMIM:102510 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... |
ORPHA:945 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
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, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... |
ORPHA:139471 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Renal agenesis, Horseshoe kidney, Hydrocephalus, ... |
OMIM:602200 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... |
ORPHA:3265 |
| Pineocytoma |
|
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251912 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... |
ORPHA:79243 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Cach Syndrome |
|
Renal hypoplasia, Lateral ventricle dilatation, Intrauterine growth retardation, Limb ataxia, Dys... |
ORPHA:135 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... |
ORPHA:3268 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Nephronophthisis, Lateral ventricle dilatation, Stage 5 chronic... |
OMIM:608629 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele |
OMIM:213010 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... |
ORPHA:1113 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... |
OMIM:603194 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... |
OMIM:615665 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... |
OMIM:611134 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:600348 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... |
OMIM:611561 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Hypospadias, Lateral ventricle dilatation |
OMIM:618330 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Colpocephaly |
OMIM:614870 |
| Seckel Syndrome 2 |
|
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... |
OMIM:606744 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotr... |
OMIM:620315 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... |
OMIM:613155 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... |
ORPHA:2839 |
| Lissencephaly 8 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:617255 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... |
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 |
|
Ventriculomegaly, Hydrocephalus, Ataxia |
OMIM:618709 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger |
ORPHA:391646 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Hydrolethalus |
|
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, P... |
ORPHA:2189 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Abnormal upper motor neuron morphology, Gait disturbance, Lateral ventricle... |
OMIM:221770 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... |
OMIM:182230 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Schisis Association |
|
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly |
ORPHA:63862 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Limb ataxia, Ataxia, Hypoplasia of the vent... |
OMIM:607596 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly |
OMIM:617119 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu... |
ORPHA:1327 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Short stature, R... |
OMIM:615993 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Encephalocele, Renal cyst, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Talipes equinovarus, Microcephal... |
OMIM:616171 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Decre... |
ORPHA:488627 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... |
ORPHA:1553 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circul... |
OMIM:266100 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly, Abnormal morphology of the radius |
ORPHA:3469 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... |
ORPHA:2117 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Ventriculomegaly, Dilated fourth ventricle, 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 |
|
Shuffling gait, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Short stature |
OMIM:303350 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Vesicoureteral reflux, Severe postnatal g... |
ORPHA:3078 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Hypoplasia of the brainstem |
OMIM:618266 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger |
OMIM:618725 |
| Slc35A2-Cdg |
|
Abnormal midbrain morphology, Lateral ventricle dilatation, Transient nephrotic syndrome, Inabili... |
ORPHA:356961 |
| Temtamy Syndrome |
|
Short toe, Aplasia/Hypoplasia of the corpus callosum, Brachydactyly, Macrocephaly, Microphthalmia... |
ORPHA:1777 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... |
OMIM:136760 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... |
ORPHA:1120 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Ataxia |
OMIM:615889 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Hypoplasia of the brainstem, Intrauterine growth retardation, Dilat... |
OMIM:617751 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... |
OMIM:175700 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Ence... |
ORPHA:1908 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| 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, Split foot, Microphthalmia |
OMIM:601349 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Hyperalaninemia, Lateral ventricle dilatation |
OMIM:301025 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Clinodactyly, Microphthalmia |
OMIM:619981 |
| Lissencephaly 4 |
|
Short stature, Colpocephaly, Growth delay, Agenesis of corpus callosum |
OMIM:614019 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas... |
OMIM:611560 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Lateral ventricle... |
OMIM:231670 |
| Joubert Syndrome 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Elongated superior cerebel... |
OMIM:609583 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Abnormal brainstem morphology, Hydrocephalus, Ataxia |
ORPHA:1532 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Metatarsus ... |
ORPHA:899 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal brainstem morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of ... |
ORPHA:300573 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus |
ORPHA:250994 |
| Joubert Syndrome 20 |
|
Inability to walk, Renal cyst, Molar tooth sign on MRI |
OMIM:614970 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Microcephaly, Aplasia... |
ORPHA:1466 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... |
OMIM:614105 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinuria, Ventriculomegaly, Increased CSF lactate, Elevated circulating 2-trans,4-cis-decad... |
OMIM:616034 |
| 17Q12 Microduplication Syndrome |
|
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia |
ORPHA:261272 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Glutaric aciduria, Lateral ventricle dilatation, Elevated CSF D-2-hydroxyglutaric acid concentrat... |
OMIM:600721 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... |
OMIM:300337 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... |
OMIM:617056 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Agenesis of cor... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... |
OMIM:614814 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... |
OMIM:300887 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... |
ORPHA:397715 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Spina bifida, Macrocephaly |
OMIM:620439 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Inability to walk, Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Intrauterine growth retardation, Hyperglycinemia, Lateral ventricle dilatation |
ORPHA:284417 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Agenesis of corpus ca... |
OMIM:614815 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hydroce... |
OMIM:615862 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... |
ORPHA:1106 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Macrocephaly, Abnormal meta... |
ORPHA:3219 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... |
OMIM:600118 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Hydrocephalus |
OMIM:129850 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalan... |
ORPHA:488635 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Inability to walk, Gait ataxia, Dandy-Walke... |
OMIM:618606 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Hyperammonemia, Hypoglutaminemia, Decreased CSF glutamine concentra... |
OMIM:610015 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida o... |
OMIM:618736 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Scissor gait, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Tethered cord |
OMIM:617244 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation |
ORPHA:3032 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Curry-Jones Syndrome |
|
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... |
OMIM:601707 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Pontocerebellar atrophy, Ataxia |
OMIM:617854 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachnodactyly, Micro... |
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, Holoprosencephaly, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... |
OMIM:251270 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Spina bifida, Rocker bott... |
OMIM:616038 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Renal cyst, Molar tooth sign on M... |
OMIM:614175 |
| Distal Deletion 10Q |
|
Acute kidney injury, Functional abnormality of the bladder, Lateral ventricle dilatation, Horsesh... |
ORPHA:96148 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... |
OMIM:615181 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... |
OMIM:207950 |
| Cog5-Cdg |
|
Lateral ventricle dilatation, Intrauterine growth retardation, Neurogenic bladder, Micropenis, At... |
ORPHA:263487 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... |
ORPHA:163966 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Excessive wrinklin... |
ORPHA:487825 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... |
OMIM:603387 |
| Diencephalic Syndrome |
|
Long penis, Hydrocephalus |
ORPHA:1672 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Abnormal renal corticomedullary differentiation, Lateral ventricle dilatation |
OMIM:617397 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... |
OMIM:300049 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Hydrocephalus |
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 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Anophthalmia, Bilateral single transverse p... |
ORPHA:3378 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Ventriculomegaly, Decreased response to growth hormone stimulation tes... |
OMIM:609757 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... |
OMIM:619694 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventriculomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Fried Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:85335 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:613153 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hypoplasia of the brainstem, Inability to walk, Hydrocephalus, Ataxia, Short stature |
OMIM:618174 |
| Joubert Syndrome 6 |
|
Enlarged fossa interpeduncularis, Nephronophthisis, Hypoplasia of the brainstem, Dilated fourth v... |
OMIM:610688 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Growth delay, Lateral ventricle dilatation |
ORPHA:208447 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Micropenis, Short stature, Hyperalaninemia, Lateral ventricle dilatation |
OMIM:619847 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... |
ORPHA:3210 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the pons, Hypoplasia of the brainstem |
OMIM:619301 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Lateral ventricle dilatation, Postnatal growth retardation, Intrauterine growth retar... |
OMIM:611209 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar crease, Cereb... |
OMIM:614219 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly |
ORPHA:66625 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis, Hydrocephalus |
OMIM:248000 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Gait disturbance |
ORPHA:3270 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Microcephaly, Deep palmar crease, Broad palm, ... |
OMIM:602342 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... |
OMIM:617610 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Lateral ventricle dilatation |
OMIM:618914 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly |
ORPHA:77298 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hydrocephalus |
OMIM:619470 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Exencephaly, Molar tooth sign on MRI, Ataxia, Micropenis |
OMIM:614464 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Proteinuria, Hypon... |
OMIM:613845 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia, Hypoplasia of the brainstem |
ORPHA:420179 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Agenesis of corpus cal... |
ORPHA:93267 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus callosum, Elevated circula... |
OMIM:619955 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Horseshoe kidney, Agenesis of corpus callosum, Hydrocephalus, Short stature, Hy... |
OMIM:218350 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Diffuse c... |
OMIM:613776 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... |
OMIM:161200 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Hydrocephalus |
ORPHA:251046 |
| Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Agenesis of corpus callosu... |
OMIM:619111 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis,... |
OMIM:618161 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Gabriele-De Vries Syndrome |
|
Tip-toe gait, Lateral ventricle dilatation, Intrauterine growth retardation, Ureteropelvic juncti... |
OMIM:617557 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia o... |
OMIM:619302 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Urinary incontinence, Gait disturbance, Normal pressure hydrocephalus |
OMIM:236690 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Ureteral agenesis, Renal cyst, Mu... |
OMIM:236500 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Lateral ventricle dilatation, Recurrent ... |
OMIM:619487 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Short palm, Syndactyly |
ORPHA:79094 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
| Joubert Syndrome 14 |
|
Hypoplasia of the brainstem, Encephalocele, Renal cyst, Hydrocephalus, Molar tooth sign on MRI, A... |
OMIM:614424 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Ventriculomegaly, Inability to walk, Gait ataxia, Agenesis of corpus c... |
OMIM:616362 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Renal hypoplasia, Hydrocephalus |
OMIM:276950 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation, Tip-toe gait, Increased CSF lactate, Intrauterine growth retardatio... |
ORPHA:565624 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Polymic... |
OMIM:610758 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... |
OMIM:616602 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... |
ORPHA:1834 |
| Joubert Syndrome 2 |
|
Ataxia, Nephronophthisis, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Brainste... |
OMIM:608091 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... |
ORPHA:2092 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:613154 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Macrocephaly, Genu valgum, Hypoplasia of the corpus callosum,... |
OMIM:607131 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:615249 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Abnormal cortical gyration, Elbow dislocation, Short thumb, Ectrodactyly, Olig... |
ORPHA:2538 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... |
ORPHA:251004 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Ove... |
ORPHA:508498 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Talipes equinovarus,... |
ORPHA:99776 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Meckel Syndrome |
|
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... |
ORPHA:564 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Calcification of falx cerebri, Microphthalmia, Po... |
OMIM:109400 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis |
ORPHA:3033 |
| Monosomy 5P |
|
Microcephaly, Small hand, Finger syndactyly |
ORPHA:281 |
| Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Encephalocele, Pos... |
OMIM:605627 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal thalamus morphology, Lateral ventricle dilatation, Hypoplasia of the brainstem, Inabilit... |
ORPHA:300570 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ven... |
OMIM:618291 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Lateral ventricle dilatation, Tip-toe gait, Spastic gait, Partial agenes... |
OMIM:617296 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... |
OMIM:113000 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Port... |
ORPHA:974 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Ventriculomegaly, Renal cyst, Short stature, Meningocele |
ORPHA:2031 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Anterior hypopituitarism, Hypothalamic hamartoma, Hydrocephalus, Micrope... |
OMIM:241800 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Difficulty walking, ... |
ORPHA:572798 |
| Papillary Tumor Of The Pineal Region |
|
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251915 |
| Bresek Syndrome |
|
Renal hypoplasia, Hypoplasia of the bladder, Intrauterine growth retardation, Vesicoureteral refl... |
ORPHA:85284 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... |
OMIM:260660 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Difficulty ... |
ORPHA:464738 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of... |
ORPHA:1926 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Bilateral single tr... |
ORPHA:264200 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus, Dysmetria, Ataxia |
OMIM:203450 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... |
ORPHA:49041 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, H... |
OMIM:251230 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
| Joubert Syndrome 9 |
|
Ventriculomegaly, Stage 5 chronic kidney disease, Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... |
OMIM:154230 |
| Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Abnormality of the ureter, Intrauterine gr... |
OMIM:180860 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Cerebral calcification, Microcephaly, Spina bifida, Meningocel... |
ORPHA:1393 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Postaxial polydactyly,... |
OMIM:258860 |
| Congenital Toxoplasmosis |
|
Microcephaly, Cerebral calcification, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o... |
OMIM:617542 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Ventriculomegaly, Dicarboxylic... |
ORPHA:228308 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Hydr... |
OMIM:219730 |
| Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal... |
ORPHA:3380 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia, An... |
ORPHA:1101 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:157 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly |
OMIM:182940 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hypoplasia of the brainstem, Postnatal growth retardation, Intrauterine growth ... |
ORPHA:2169 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia |
ORPHA:73256 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger |
ORPHA:2547 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... |
OMIM:216360 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia ... |
ORPHA:60040 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Talipes equinovaru... |
ORPHA:63259 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Microcephaly, Rocker bottom foot, Camptodactyly of finger |
OMIM:610756 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Hypoplasia of the radius, Hydrocephalus, Microphthalmia, Spina bifida, Aqueductal s... |
ORPHA:3412 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Finger joint contractu... |
ORPHA:48431 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Conjugated hyperbilirubinemia, Hydrocephalus |
OMIM:269920 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
| Drug-Induced Lupus Erythematosus |
|
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... |
ORPHA:231111 |
| Smith-Magenis Syndrome |
|
Ventriculomegaly, Abnormality of the ureter, Renal hypoplasia/aplasia, Gait disturbance, Hypercho... |
ORPHA:819 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... |
ORPHA:2970 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosum, Ag... |
OMIM:618142 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Microcephaly, Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Horseshoe kidney, Vesicoureteral reflux, Agenesis of corpus callosum, Hydroceph... |
ORPHA:238769 |
| Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia, Agenesis of corpus callosum, Talipes equinovarus, Brachydac... |
OMIM:218340 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly |
ORPHA:99742 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... |
OMIM:256520 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Renal cortical cysts, Penile hypospadias, Agenesis of corpus callos... |
ORPHA:1692 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly |
ORPHA:404451 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Lateral ventricle dilatation |
OMIM:256850 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Brachydactyly, Macrocephaly |
ORPHA:313781 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tibial deviation of the 2nd toe, Abnormally large globe, Clinodactyly of the 2nd finger, Radial d... |
ORPHA:363417 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... |
ORPHA:2251 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventr... |
OMIM:619479 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal localization of kidney, Hydrocephalus |
ORPHA:83473 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Ventriculomegaly, Nephronophthisis, Hydrocephalus, Short stature |
OMIM:615630 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Elbow flexion contracture, Basal ganglia calcification, Second met... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Hypoplasia of the corpus callosum, Postax... |
OMIM:615996 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Gait disturbance, Hydrocephalus, Micropenis, Short sta... |
ORPHA:500055 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
| Femoral-Facial Syndrome |
|
Ventriculomegaly, Long penis, Renal hypoplasia/aplasia, Short stature, Abnormal localization of k... |
ORPHA:1988 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Glandular hypospadias, Abnormal preputium morphology, Choroid plexus cyst, Lateral ventricle dila... |
ORPHA:293725 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Bilateral single transverse palmar creases, Hypoplasia of the corpus callosum, Prim... |
OMIM:618804 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Short stature, Hydrocephalus, Ataxia |
ORPHA:31 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Telangiectasia, Microphthalmia, Foot p... |
OMIM:305600 |
| Holoprosencephaly |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Anophthalmia, En... |
ORPHA:2162 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Intrauterine growth retardation, Agenesis of corpus callosum, Hydro... |
OMIM:612863 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... |
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 |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... |
OMIM:614833 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... |
ORPHA:370959 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Difficulty walking, Colpocephaly, Spastic gait |
ORPHA:401815 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Cerebral white matter atrophy,... |
ORPHA:435638 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly |
ORPHA:1445 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... |
OMIM:619902 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microcephaly, Macrocephaly, Microphth... |
ORPHA:251038 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Renal agenesis, Hydrocephalus, Micropenis, Hypospadias |
ORPHA:171839 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Short stature, Abnormality of the ureter |
ORPHA:1035 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... |
OMIM:212720 |
| Tetrasomy 15Q26 |
|
Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Hydrocephalus, Dandy-Walker ma... |
OMIM:614846 |
| Cockayne Syndrome Type 1 |
|
Difficulty walking, Postnatal growth retardation, Renal insufficiency, Proteinuria, Gait disturba... |
ORPHA:90321 |
| Joubert Syndrome 31 |
|
Truncal ataxia, Ventriculomegaly, Molar tooth sign on MRI |
OMIM:617761 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Renal tubular acidosis, Hydrocephalus, Sho... |
OMIM:619575 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Hydrocephalus, Macrocephaly, Agenesis of cerebellar vermis, Short... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
ORPHA:352682 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Ventriculomegaly, Gait disturbance, Hydrocephalus |
ORPHA:272 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... |
ORPHA:97362 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet... |
OMIM:223360 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Monosomy 18P |
|
Microcephaly, Brachydactyly, Microphthalmia, Holoprosencephaly, Hypertension |
ORPHA:1598 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases |
OMIM:618652 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Absent radius, Microphthal... |
ORPHA:1352 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s... |
ORPHA:1520 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Ventriculomegaly, Nephrolithiasis, Decreased level of plasminogen, Hydrocephalus, Dand... |
OMIM:217090 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic... |
OMIM:603860 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Hypoplasia of the ... |
OMIM:614225 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia |
OMIM:618805 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| L1 Syndrome |
|
Aqueductal stenosis, Gait disturbance, Hydrocephalus |
ORPHA:275543 |
| Holt-Oram Syndrome |
|
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... |
ORPHA:392 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus |
OMIM:610333 |
| Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... |
ORPHA:2369 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Recurrent urinary tract infections, Inability to ... |
OMIM:619229 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Postnatal growth retardation, Intrauterine growth... |
OMIM:257300 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Agenesis of corpus callosum, Microphthalmia, Pachygyria, Lissencephaly |
OMIM:614583 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... |
OMIM:274150 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Ventriculomegaly, Hypoplasia of the bladd... |
OMIM:620305 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia, Encephalocele... |
OMIM:614643 |
| Frontorhiny |
|
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... |
ORPHA:391474 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... |
ORPHA:85167 |
| Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hydroneph... |
OMIM:220210 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Horseshoe kidney, Decreased response to growth hormone stimulation test, Intrau... |
OMIM:609053 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... |
OMIM:619879 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Micro... |
ORPHA:2994 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... |
ORPHA:206448 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:619244 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia |
OMIM:602361 |
| Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Short 1st metacarpal, Relative macrocephaly, Short first metatarsal... |
OMIM:619135 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
| Congenital Rubella Syndrome |
|
Microcephaly, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Lateral ventricle dilatation |
OMIM:619278 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Lateral ventricle dilatation |
OMIM:619995 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
| Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Slender metacarpals, Secondary microcephaly, Microphthalmia, Broad palm, Coxa ... |
OMIM:620601 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... |
OMIM:617914 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... |
OMIM:235400 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Microc... |
OMIM:619721 |
| Trisomy 17P |
|
Growth delay, Intrauterine growth retardation, Hydronephrosis, Hydrocephalus, Short stature, Hypo... |
ORPHA:261290 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine con... |
OMIM:608836 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias |
OMIM:231060 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| Arima Syndrome |
|
Ataxia, Nephronophthisis, Growth delay, Hypoplasia of the brainstem, Dilated fourth ventricle, St... |
OMIM:243910 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... |
ORPHA:3447 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb |
ORPHA:1825 |
| Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency, Encephalocele, Agenesis of corpus callosum, Gait disturbance, H... |
ORPHA:220497 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature |
OMIM:613390 |
| Fanconi Anemia, Complementation Group S |
|
Microcephaly, Proximal placement of thumb, Clinodactyly, Microphthalmia |
OMIM:617883 |
| Hallermann-Streiff Syndrome |
|
Slender long bone, Telangiectasia, Microcephaly, Abnormality of the hand, Pulmonary arterial hype... |
OMIM:234100 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... |
OMIM:619148 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Inabili... |
ORPHA:2822 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... |
OMIM:613684 |
| Uremic Pruritus |
|
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ... |
ORPHA:94059 |
| Say Syndrome |
|
Short stature, Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... |
ORPHA:175 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Talipes... |
ORPHA:250989 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Um... |
OMIM:300166 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Postnatal growth retardation, Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Abnormality of the kidney, Short stature, Holopro... |
ORPHA:93274 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... |
OMIM:607597 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Intrauterine growth retardation, Proteinuria, Aqueductal stenosis, Short stature, Ne... |
ORPHA:2065 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Joubert Syndrome 1 |
|
Nephropathy, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Brainstem dysplasia, ... |
OMIM:213300 |
| Alexander Disease Type I |
|
Ataxia, Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence |
ORPHA:99947 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Ventriculomegaly, Proximal tubulopathy, Hyperechogenic kidneys, Intrau... |
OMIM:614576 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger... |
ORPHA:251014 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... |
OMIM:114290 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Hyd... |
OMIM:612284 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2182 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly... |
ORPHA:84 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Microphthalmia |
OMIM:308350 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Microphthalmia, Syndromic 6 |
|
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndacty... |
OMIM:607932 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, 2-3 toe s... |
OMIM:264480 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia |
OMIM:614859 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cavum septum pellucidum, Macrocephaly, Microphthalmia, Clinodactyly of the 5th finger, Relative m... |
OMIM:617306 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Hydrocephalus |
ORPHA:1516 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callo... |
OMIM:617260 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... |
ORPHA:163649 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical hernia, Abnormal... |
ORPHA:261318 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Micromelia, Polymicrogyria, Cerebral calcification, Absent septum pel... |
ORPHA:2671 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:611773 |
| Heart And Brain Malformation Syndrome |
|
Hand clenching, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Camptodacty... |
OMIM:616920 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Microphthalmia, Hypoplasia of the corpus callosum, Cerebellar hypo... |
OMIM:611961 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Rela... |
ORPHA:397590 |
| Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Gait disturbance, Hydrocephalus, Meningocele,... |
ORPHA:588 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Intrauterine growth retardation, ... |
OMIM:225790 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:615191 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Temple Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Decreased response to growth hormone ... |
ORPHA:254516 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Polydactyly... |
OMIM:169400 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma... |
ORPHA:314588 |
| Urban-Rogers-Meyer Syndrome |
|
Short stature, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Hyd... |
ORPHA:2655 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly, Microphthalmia |
OMIM:614526 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Microphth... |
OMIM:619185 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... |
ORPHA:2712 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial ... |
OMIM:277170 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Short femur, Preaxial hand polyda... |
OMIM:134780 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias, Hydrocephalus |
ORPHA:2075 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... |
OMIM:615994 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous... |
OMIM:272440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... |
OMIM:616538 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Unsteady gait, Lateral ventricle dilatation, Ataxia |
ORPHA:457279 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Hyperechogenic kidneys, Choroid plexus cyst, Hydrocephalus, Polycystic kidney d... |
OMIM:617866 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia, Microcephaly, Spina bifida, Cavum s... |
OMIM:304050 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage, Clubbing of fingers |
ORPHA:335 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Renal cyst, Short stature, Gro... |
OMIM:615583 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia |
ORPHA:3191 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem... |
OMIM:248700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Increased CSF lactate, Hydroureter |
OMIM:618240 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Renal tubular dysfunction, Hydrocephalus, Short stature, Elevated circulating... |
OMIM:614886 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Cerebral a... |
ORPHA:2308 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... |
OMIM:615503 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Agenesis of corpus callosum, Microcephaly, Duplication of phalanx of hallu... |
OMIM:243310 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Hyp... |
OMIM:145001 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Rel... |
OMIM:617895 |
| Joubert Syndrome 27 |
|
Gait ataxia, Dilatation of the renal pelvis, Molar tooth sign on MRI, Ataxia |
OMIM:617120 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:2183 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicrogyria, Overlap... |
OMIM:618494 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly, Syndactyly |
ORPHA:1942 |
| Nephronophthisis 9 |
|
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... |
OMIM:613824 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... |
OMIM:217085 |
| Bainbridge-Ropers Syndrome |
|
Inability to walk, Intrauterine growth retardation, Growth delay, Lateral ventricle dilatation |
OMIM:615485 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Agenesis of corpus callosum, Short stature, Hydrocephalus, Abnormality of the kidney, Tubulointer... |
ORPHA:459061 |
| Neurocardiofaciodigital Syndrome |
|
Short stature, Dilated fourth ventricle, Vesicoureteral reflux, Lateral ventricle dilatation |
OMIM:619869 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentrat... |
ORPHA:79303 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Holoprosencephaly, Anophthalmia, Microcepha... |
OMIM:610829 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... |
OMIM:146510 |
| Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Ataxia |
ORPHA:2318 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Microcephaly, Tethered cord |
OMIM:617660 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Mucopolysacchariduria, Hydrocephalus, Atax... |
OMIM:272200 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Syndactyly |
OMIM:239710 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Ventriculomegaly, Intrauterine growth retardation, Vesicoureteral reflux, Hydro... |
OMIM:618460 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Atrophy/Degeneration affecting the brainstem, Ataxia, Urinary incontinen... |
ORPHA:314404 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:618577 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia |
OMIM:618845 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Cloacal Exstrophy |
|
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... |
ORPHA:93929 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Brachydactyly, Short long bone |
OMIM:615633 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:257910 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Fronta... |
ORPHA:2714 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Dextrocardia |
|
Abnormality of the ureter, Hydrocephalus, Abnormal renal morphology |
ORPHA:1666 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Brachydactyly, Syndactyly |
OMIM:616589 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... |
ORPHA:3103 |
| Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Triploidy |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Macrocephaly, Mening... |
ORPHA:3376 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Ethmoidal encephalocele, Hypoplasia of the pons, Anterior hypopitui... |
ORPHA:280195 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Aredyld Syndrome |
|
Short stature, Abnormality of the ureter, Intrauterine growth retardation |
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 |
|
Polycystic ovaries, Abnormality of the ureter, Short stature, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Ventriculomegaly, Gait ataxia, Hydrocephalus |
OMIM:616355 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventriculomegaly, Renal agenesis, Cystic renal... |
OMIM:220500 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Tricuspid regurgitation, Clinodactyly... |
OMIM:620663 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap |
OMIM:612918 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Toe syndactyly, Polymicrogyria, Periventricular leukomalacia, Encephalocel... |
OMIM:100300 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Macular hypoplasia, Tapered finger |
OMIM:613792 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus, Ataxia, Mic... |
OMIM:614969 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... |
OMIM:608940 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... |
OMIM:206900 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Kleefstra Syndrome |
|
Ventriculomegaly, Vesicoureteral reflux, Renal insufficiency, Agenesis of corpus callosum, Hydron... |
ORPHA:261494 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Inability to walk, Colpoc... |
OMIM:620371 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:2181 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Disproportionate short stature, Lateral ventricle dilatation, Intrauterine grow... |
OMIM:210710 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria, Ataxia |
OMIM:615398 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Heart murmur, Abnormal palmar dermatoglyphics, Microcephaly, Microphthalmia |
ORPHA:2728 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Single transverse palmar crease, Agenesis of corpus callosum, 2-3 toe syndactyl... |
OMIM:616449 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S... |
OMIM:619451 |
| Laurence-Moon Syndrome |
|
Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Severe short stature, Multicystic kidney dysplasia, Abnormality of the... |
ORPHA:2461 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Polymicrogyria, Overlapping ... |
OMIM:244300 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphthalmia, Holoprosenc... |
OMIM:612530 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure, Microcephaly, Microphthalmia, Upper limb asymmetry |
ORPHA:2505 |
| Noonan Syndrome 14 |
|
Short stature, Lateral ventricle dilatation |
OMIM:619745 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callo... |
OMIM:614222 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Intrauterine growth retardation, Short stature, Spina bifida occulta, ... |
ORPHA:2311 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Absent septum... |
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 |
|
Micropenis, Polycystic kidney dysplasia, Lateral ventricle dilatation |
OMIM:263520 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... |
OMIM:609638 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... |
ORPHA:322 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Preaxial polydactyly, Relative macrocephaly, Hypoplastic pelvis, Encepha... |
OMIM:616300 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Increased CSF lactate, Renal insufficiency, Renal tubular acidosis, Renal cyst,... |
OMIM:614922 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Kabuki Syndrome 1 |
|
Growth delay, Lateral ventricle dilatation, Postnatal growth retardation, Crossed fused renal ect... |
OMIM:147920 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Cardiomyopathy, Short metacarpal, Microphthalmia, Hammertoe, Heart... |
ORPHA:773 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Short stature, Unilateral renal agenesis, Communicating hydrocephalus |
ORPHA:1064 |
| Monosomy 13Q14 |
|
Finger syndactyly, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the thumb, Microcepha... |
ORPHA:1587 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u... |
ORPHA:230 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Lateral ventricle dilatation, Vesicoureteral reflux, Bilateral feta... |
OMIM:300868 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Aqueductal stenosis, Hydronephrosis, Vesicoureteral reflux |
ORPHA:93260 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Abnormal brainstem morphology, Intraute... |
ORPHA:464311 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| 3C Syndrome |
|
Ventriculomegaly, Postnatal growth retardation, Hydronephrosis, Hydrocephalus, Short stature, Hyp... |
ORPHA:7 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... |
ORPHA:1515 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia |
OMIM:619053 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Relative macrocephaly, Monkey wrench femoral... |
OMIM:615777 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Aplasia/Hypoplasia of t... |
ORPHA:568 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Recurrent urinary tract infections... |
OMIM:609029 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Proximal tubulopathy, Hypocholesterolemia, Dilated fourth ventricle, Dysmetria, ... |
OMIM:212065 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Intrauterine... |
ORPHA:177907 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microcephaly, Cutane... |
OMIM:600987 |
| Phakomatosis Pigmentokeratotica |
|
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Umbilical hernia, Polydactyly, Telangiectasia, Hypoplasia of the fovea, Hydrocephal... |
ORPHA:93400 |
| Fraser Syndrome 1 |
|
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndacty... |
OMIM:219000 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... |
OMIM:620098 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Mi... |
OMIM:272950 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Gait ataxia, Hydrocephalus, Aqueductal stenosis, Choreoathetosis, Dandy-Walker ... |
OMIM:304340 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Ataxia |
OMIM:619725 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Hoxha-Aliu Syndrome |
|
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... |
OMIM:620662 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly, Microphthalmia |
OMIM:618727 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Growth delay, Cho... |
ORPHA:445038 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... |
OMIM:212780 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Temple Syndrome |
|
Intrauterine growth retardation, Hypercholesterolemia, Hydrocephalus, Hypertriglyceridemia, Short... |
OMIM:616222 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... |
OMIM:137920 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Lateral ventricle dilatation, Intrauterine growth retardation, Urete... |
OMIM:300896 |
| 9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Hip dysplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly |
ORPHA:531151 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Hypocalcemic seizures, Growth delay, Lateral ventricle dilatation |
OMIM:612301 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... |
OMIM:253800 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Ventriculomegaly, Cystathioninemia, Hypomethioninemia, Gait disturbance, Hyperhom... |
ORPHA:395 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... |
OMIM:263200 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Dandy-Walker malformation, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617622 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Hypoplasia of the brainstem, Occipital meningocele, Anencephaly, Hydrocephalus,... |
OMIM:616546 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Pyelonephritis, Renal ... |
OMIM:181270 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:243605 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Short foot, Short palm |
OMIM:241410 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Hydrocephalus |
OMIM:300558 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Toe syndactyly, Finger syndactyly, Cerebral calcification, Arachnodactyly, Microcephaly, Short palm |
ORPHA:73246 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Branchial cyst, Single transverse palmar crease, Microcephaly, Camptodactyly, ... |
ORPHA:435938 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brains... |
OMIM:617822 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Single transverse palmar crease, Polydactyly, Microcephaly, Brachydactyly |
OMIM:618950 |
| Familial Exudative Vitreoretinopathy |
|
Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphtha... |
ORPHA:891 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Severe short stature, Ventriculomegaly, Infancy onset short-trunk s... |
ORPHA:444072 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Ventriculomegaly, Lateral ventricle dilatation, Recurrent urinary tract infect... |
OMIM:615873 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Renal agenesis, Intrauterine growth retardation, Hydrocephalus, Micropenis, Gro... |
OMIM:300514 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... |
OMIM:613150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brains... |
OMIM:615287 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocephalus, Ataxia, Short sta... |
OMIM:619833 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Disproportionate short-trunk short stature, Gait disturbance, Hydrocephalus |
OMIM:613330 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Asparagine Synthetase Deficiency |
|
Ventriculomegaly, Dilated third ventricle, Hypoasparaginemia, Hypoplasia of the pons, Hypoplasia ... |
OMIM:615574 |
| Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Renal cortical cysts, El... |
ORPHA:79323 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Abnormal renal tubule morphology, Hydrocephalus, Ataxia, Short sta... |
ORPHA:2720 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Renal insufficiency, Gait dis... |
ORPHA:1454 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Pachygyria, Hypoplasia of the corpus callosum, Arachnodactyly, Microcephaly, Mi... |
OMIM:617729 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... |
OMIM:192350 |
| Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac... |
ORPHA:193 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Tenorio Syndrome |
|
Ventriculomegaly, Gait disturbance, Enuresis, Hydrocephalus |
OMIM:616260 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly... |
ORPHA:3224 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ... |
ORPHA:1786 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Hydrocephalus, Urethral atresia, Enlarged kidney |
OMIM:314390 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Micropenis, Unilateral renal agenesis, Vesicoureteral reflux, Hydrocephalus |
OMIM:619951 |
| Congenital Disorder Of Glycosylation, Type If |
|
Ventriculomegaly, Renal cortical cysts, Ataxia |
OMIM:609180 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Elevated circulating phytanic acid concentration, Intrauterine growth retardation, A... |
OMIM:614866 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Hypoplasia of the corp... |
ORPHA:401973 |
| Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Umbilical herni... |
ORPHA:915 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the radius, Hypopl... |
ORPHA:3186 |
| Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Microce... |
ORPHA:2980 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Anophthalmia, Hypoplasia of ... |
OMIM:615636 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Agenesis of corpus callosum, Talipes equinovarus, Dislocated... |
OMIM:180849 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Hypoplasia of the brainstem, Intrauteri... |
ORPHA:464306 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Intrauterine growth retardation, A... |
ORPHA:96170 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... |
OMIM:301111 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| 47,Xyy Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus, Increased circulating gonadotropin level, Micropeni... |
ORPHA:8 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma |
ORPHA:2869 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Macrocephaly, Microphthalmia, Clinodactyly of the ... |
ORPHA:65286 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... |
ORPHA:26791 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... |
ORPHA:3320 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Anop... |
ORPHA:2052 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand, Camptodactyly,... |
ORPHA:369891 |
| Weaver Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:277590 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... |
OMIM:613573 |
| Pagod Syndrome |
|
Encephalocele, Microcephaly, Arrhythmia, Spina bifida, Meningocele, Sudden cardiac death |
ORPHA:991 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar hypoplasia, Microcephaly, Clinodactyly, Syndactyly |
OMIM:618087 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Growth delay, Agenesis of corpus callosum |
OMIM:619980 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Metatropic Dysplasia |
|
Severe short stature, Hydrocephalus |
ORPHA:2635 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... |
ORPHA:166119 |
| Alagille Syndrome |
|
Abnormality of the ureter, Intrauterine growth retardation, Renal hypoplasia/aplasia, Spina bifid... |
ORPHA:52 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Intrauterine growth retardation, Hydrocephalus |
ORPHA:1914 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Hydrocephalus |
ORPHA:2701 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... |
ORPHA:2334 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microcephaly, Long fingers, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Hypoplasia of penis |
ORPHA:1812 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Choreoathetosis |
ORPHA:261197 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Oculodentodigital Dysplasia |
|
Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joint contracture of the 5th finge... |
OMIM:164200 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Renal cyst, Proximal tubulopathy |
OMIM:602579 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... |
OMIM:257850 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Microphthalmia |
OMIM:302350 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Corneal neovascularization, A... |
ORPHA:567 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... |
OMIM:174000 |
| Meckel Syndrome, Type 1 |
|
Elevated amniotic fluid alpha-fetoprotein, Ventriculomegaly, Hypoplasia of the bladder, Occipital... |
OMIM:249000 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| ERI1-related disease |
|
Tricuspid regurgitation, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limit... |
OMIM:608739 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Encephalocele, Hydrocephalus, Ataxia, Short stature |
ORPHA:381 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... |
OMIM:613001 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Agenesis of corpus callosum, Aplasia of the distal p... |
ORPHA:3472 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... |
ORPHA:2556 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
| Neurofibromatosis, Type I |
|
Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Macrocephaly, Aqueductal stenosi... |
OMIM:162200 |
| Charge Syndrome |
|
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Anophthalmia, Polydactyly, Microcephaly... |
ORPHA:138 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Growth delay |
OMIM:620156 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... |
OMIM:302960 |
| Odontochondrodysplasia 1 |
|
Short stature, Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum |
ORPHA:228390 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis, Ataxia, Communicating hydrocephalus, Growth delay |
OMIM:616084 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Hand muscle atrophy, Agenesis of corpus ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Hand muscle atrophy, Agenesis of corpus ... |
ORPHA:363958 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Ventriculomegaly, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cy... |
OMIM:618454 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Clinodactyly, Single transverse palmar crease,... |
OMIM:311900 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Ventriculomegaly, Decreased response to growth hormone stimulation test, ... |
ORPHA:1855 |
| 2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm... |
ORPHA:1001 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Microcephaly, 2-3 finger syndactyly, Hypoplasia of the radius, Microph... |
OMIM:603467 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Occipital encephalocele... |
ORPHA:887 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Mitral regurgitation, Hypo... |
ORPHA:254346 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication, Hydrocephalus |
OMIM:104350 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... |
ORPHA:710 |
| Phelan-Mcdermid Syndrome |
|
Ventriculomegaly, Broad-based gait, Vesicoureteral reflux, Abnormality of the kidney, Unsteady ga... |
OMIM:606232 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Campomelia, Cumming Type |
|
Short stature, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Incontinentia Pigmenti |
|
Cerebral cortical atrophy, Deviation of finger, Finger syndactyly, Congestive heart failure, Camp... |
ORPHA:464 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein... |
ORPHA:18 |
| Mody |
|
Nephropathy, Glycosuria, Intrauterine growth retardation, Abnormal circulating C-peptide concentr... |
ORPHA:552 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of the olfactory bulb, Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Slender finger, Cerebral atrophy, Pachygyria, Seco... |
OMIM:251300 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hyperphosphatemia, Disproportionate short-limb short stature, Intraute... |
OMIM:101800 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Microcephaly, Brachyd... |
OMIM:614701 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Choroid ... |
OMIM:267010 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Hypoplasia of the corpus callosum, Talipes equinovarus, Microceph... |
OMIM:615789 |
| Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Fliedner-Zweier Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Meningocele |
OMIM:620511 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l... |
ORPHA:2256 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Microcephaly, Brac... |
ORPHA:1005 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Dilatation of the renal pelvis, Lateral ventricle dilatation, Increased circulat... |
OMIM:619534 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... |
OMIM:610188 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Clinodactyly of the 5th finger, Small hand, Syndactyly |
OMIM:616489 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... |
ORPHA:93930 |
| Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts |
OMIM:263630 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Hydrocephalus, Hypoplasia... |
OMIM:617667 |
| 2P15P16.1 Microdeletion Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Intrauterine growth retardation, Hydronephrosis, ... |
ORPHA:261349 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly |
OMIM:618874 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Intrauterine growth retardation, Hyponatremia, ... |
OMIM:617053 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Finger clinodactyly, Preaxial polydactyly, Aplasia/Hypoplasia of th... |
ORPHA:2754 |
| B4Galt1-Cdg |
|
Decreased LDL cholesterol concentration, Hydrocephalus, Dandy-Walker malformation, Elevated circu... |
ORPHA:79332 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... |
ORPHA:3258 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Ventriculomegaly, Subependymal nodules, Ataxia, Commun... |
ORPHA:25 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst, Intrauterine growth retardation, Short stature |
ORPHA:166035 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... |
ORPHA:2166 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... |
OMIM:300960 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcephaly, M... |
ORPHA:1236 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Aplasia/Hypoplasia... |
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, Finger aplasia, Syndactyly |
OMIM:149000 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... |
OMIM:142900 |
| Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis |
OMIM:601186 |
| Oliver Syndrome |
|
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... |
ORPHA:2920 |
| Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria, Hypokalemia... |
OMIM:619377 |
| Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ... |
OMIM:256100 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma, Agene... |
ORPHA:314585 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Arachnodactyly, Bowing of the long bones, Microcephaly, Pulmonary arteri... |
OMIM:614437 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture o... |
OMIM:619562 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia |
ORPHA:1791 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Abnormal m... |
ORPHA:284160 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Pachygyria, Microcephaly, Finger syndactyly, Hypoplasia of the corpus callosum |
ORPHA:66629 |
| Vici Syndrome |
|
Hypoplasia of the pons, Renal tubular acidosis, Agenesis of corpus callosum, Ureteral atresia, Sh... |
ORPHA:1493 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Growth delay, Abnormality of the ureter, Agenesis of corpus callosum, ... |
ORPHA:3339 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Short stature, Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
| Baller-Gerold Syndrome |
|
Abnormality of the ureter, Intrauterine growth retardation, Vesicoureteral reflux, Hydronephrosis... |
ORPHA:1225 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Microcephaly, Simplified gyral pattern |
OMIM:152950 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Sma... |
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 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Intrauterine growth retardation, Disprop... |
OMIM:608022 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Polycystic kidney dysplasia |
OMIM:608776 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Brachydactyly, Split hand, Finger syndactyly |
ORPHA:2145 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthal... |
OMIM:615663 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Agenesis of corpus callosum, Elevated circulating... |
OMIM:618733 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:236670 |
| Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Lethal short-limbed short stature, Hydrocephalus, Abnormality of the kidney |
ORPHA:1860 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Horseshoe kidney, Inability to walk, Penile hypospadias, Colpocephaly, Ataxia, Short stature, Hyp... |
OMIM:620083 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Fryns Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Vesicoureteral reflux, Agenesis of corpus callosu... |
ORPHA:2059 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Hepatic cysts, Ovarian cyst, Renal cyst, Eosinophilia, Membranous nephropathy |
ORPHA:400 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... |
OMIM:600145 |
| Albers-Schönberg Osteopetrosis |
|
Short stature, Hydrocephalus, Hypocalcemia |
ORPHA:53 |
| Amelocerebrohypohidrotic Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:1946 |
| Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Hy... |
OMIM:309900 |
| Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Microcephaly, Hypoplasia of the radius, Microphthalmia |
OMIM:610832 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Multiple Sulfatase Deficiency |
|
Short stature, Mucopolysacchariduria, Hydrocephalus |
ORPHA:585 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Difficulty walking, Hypocalcemia, Agenesis of corpus callosum, Hydrocephalus, A... |
OMIM:618476 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Neurogenic bladder, Hydrocephalus, Short stature, Spina bifida occulta |
OMIM:613686 |
| Filippi Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Micro... |
ORPHA:3255 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Microcephaly, Absent radius, Microphthalmia, Complete duplication of t... |
OMIM:600901 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Cardiomyopathy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, B... |
OMIM:217980 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Ventriculomegaly, Broad-based gait, Hydrocephalus, Short stature, Hypospadias |
ORPHA:93932 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atrophy, Myelomeni... |
OMIM:311200 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration, Propo... |
ORPHA:488618 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Hydrocephalus, Hypoplasia of the pons |
OMIM:620157 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Syndactyly, Microphthalmia, Camptodactyly, Short metacarpal, A... |
OMIM:614230 |
| Atelis Syndrome 2 |
|
Clinodactyly, Single transverse palmar crease, Microcephaly, Vitreous hemorrhage, Microphthalmia,... |
OMIM:620185 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Short s... |
ORPHA:261265 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Hip dysplasia |
ORPHA:494344 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... |
OMIM:277400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Growt... |
ORPHA:79282 |
| Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Urinary bladder sphincter dysfunction, Inability to walk, Encep... |
ORPHA:2356 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... |
OMIM:104200 |
| Nephronophthisis 4 |
|
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... |
OMIM:606966 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... |
ORPHA:79404 |
| Kbg Syndrome |
|
Microcephaly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly |
ORPHA:2332 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation, Agenesis of corpus c... |
OMIM:616258 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndac... |
ORPHA:158687 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-5 finge... |
ORPHA:468631 |
| Orofaciodigital Syndrome Xvi |
|
Inability to walk, Ventriculomegaly, Molar tooth sign on MRI, Ataxia |
OMIM:617563 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Ventriculomegaly, Rhizomelia, Stage 5 chronic kidney disea... |
OMIM:266920 |
| Joubert Syndrome 10 |
|
Short stature, Dysmetria, Growth delay, Molar tooth sign on MRI |
OMIM:300804 |
| Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Hypospadias, Hydrocephalus, Growth delay |
ORPHA:2409 |
| H Syndrome |
|
Delayed puberty, Hydrocephalus, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Shor... |
ORPHA:168569 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Hypop... |
OMIM:227646 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
| Koolen-De Vries Syndrome |
|
Ventriculomegaly, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Short stature, Ureter... |
ORPHA:96169 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Midline brain calcifications, Pachygyria, Single transverse palmar... |
OMIM:247200 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
OMIM:193220 |
| Wolfram Syndrome 1 |
|
Hydroureter, Hydronephrosis, Neurogenic bladder, Ataxia, Growth delay |
OMIM:222300 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... |
ORPHA:2973 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Pituitary adenoma, Stage 5 chronic kidney disease, Renal insufficiency, H... |
ORPHA:805 |
| Rubinstein-Taybi Syndrome |
|
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M... |
ORPHA:783 |
| Acrocardiofacial Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Mitral ste... |
ORPHA:2008 |
| Isolated Posterior Meningocele |
|
Difficulty walking, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enur... |
ORPHA:268810 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Biparietal narrowing, Microphthalmia |
ORPHA:1915 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Progressive ventriculomegaly, Ventriculomegaly, Lateral ventricle dila... |
ORPHA:500150 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Smith-Lemli-Opitz Syndrome |
|
Micropenis, Duplicated collecting system, Holoprosencephaly, Hypospadias, Renal agenesis, Colpoce... |
OMIM:270400 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Semilobar holoprosencephaly, Inability to walk, Intrauterine growth retardation... |
OMIM:618651 |
| Charge Syndrome |
|
Bifid femur, Short thumb, Umbilical hernia, Unilateral microphthalmos, Microphthalmia, Anophthalm... |
OMIM:214800 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atr... |
OMIM:208540 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:612379 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Molar tooth sign on ... |
ORPHA:220493 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous synda... |
OMIM:601005 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Hydrocephalus |
OMIM:601499 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia... |
OMIM:184705 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Syndactyly |
OMIM:616006 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Microcephaly, Absent radius, Microphthalmia, Complete duplication of t... |
OMIM:227650 |
| Pentalogy Of Cantrell |
|
Renal agenesis, Encephalocele, Anencephaly, Hydrocephalus, Hypospadias, Renal dysplasia |
ORPHA:1335 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia involving... |
OMIM:308050 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Overlapping toe, Mesomelic/rhizomelic limb shortening, Hy... |
OMIM:605039 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Harrod Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Desmosterolosis |
|
Severe short stature, Ventriculomegaly, Renal agenesis, Intrauterine growth retardation, Renal hy... |
ORPHA:35107 |
| Japanese Encephalitis |
|
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal thalamus morphology, ... |
ORPHA:79139 |
| Mycophenolate Mofetil Embryopathy |
|
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Foot polydactyly, Short palm |
ORPHA:268249 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Single transvers... |
OMIM:617527 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615219 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:2510 |
| Myhre Syndrome |
|
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial devia... |
OMIM:139210 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Abnormality of the urinary system |
ORPHA:2184 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly |
OMIM:616028 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Abnormality of the anterior pituitary, Elevated ci... |
ORPHA:449395 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microcephaly, Microphthalmia |
OMIM:234050 |
| Kenny-Caffey Syndrome, Type 2 |
|
Basal ganglia calcification, Macrocephaly, Abnormality of the medullary cavity of the long bones,... |
OMIM:127000 |
| Kabuki Syndrome |
|
Abnormal localization of kidney, Ventriculomegaly, Crossed fused renal ectopia, Ureteropelvic jun... |
ORPHA:2322 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasi... |
ORPHA:306542 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... |
ORPHA:2237 |
| Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Macrocephaly, Calcification of falx cerebri, Polydactyly, Hydrocep... |
ORPHA:77301 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Hypoplasminogenemia |
|
Decreased level of plasminogen, Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis |
ORPHA:722 |
| Knobloch Syndrome |
|
Bifid ureter, Occipital encephalocele, Vesicoureteral reflux, Hydrocephalus |
ORPHA:1571 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... |
OMIM:305400 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Telangiectasia, Microcephaly, Corneal neovascularization, Microphthalmia |
OMIM:278730 |
| D-Bifunctional Protein Deficiency |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst, Ventriculomegaly |
OMIM:261515 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ... |
OMIM:601812 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Postnatal growth retardation, Pro... |
ORPHA:54595 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Absent septum pellucidum, Single transverse palmar crease, Histio... |
OMIM:309801 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Disproportionate short stature, Hydrocephalus, Urinary incontin... |
OMIM:616482 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Macrocephaly, Postaxial polydactyly, Brac... |
OMIM:209900 |
| Acrofacial Dysostosis, Palagonia Type |
|
Spina bifida occulta, Short 4th metacarpal, Small hand, Finger syndactyly |
ORPHA:1787 |
| Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Hydrocephalus |
OMIM:616294 |
| Pearson Syndrome |
|
Ataxia, Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Postna... |
ORPHA:699 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Partial agenesis of the corpus callosum, Thin corpus callosum, Tethered cord, Taper... |
OMIM:619480 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Intrauterine growth retardation, Hydronephrosis, Sh... |
ORPHA:1297 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydact... |
OMIM:614099 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventriculomegaly, Hypoplasia of the pons, Intrauterine growth retardation, Vesicoureteral reflux,... |
OMIM:616975 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microcephaly, Anophthalmia, Microphthalmia |
ORPHA:2526 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Intrauterine growth reta... |
OMIM:214110 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the h... |
OMIM:151050 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele |
OMIM:614195 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Macrocephaly |
OMIM:618316 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume, Hypoglycorrhachia, Postnatal growth retardation, Ataxia, Short stature... |
ORPHA:168577 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
| Stankiewicz-Isidor Syndrome |
|
Micropenis, Ureteral duplication, Pineal cyst, Hypospadias |
OMIM:617516 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia |
OMIM:618571 |
| Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Postnatal growth retardation, Heparan sulfate excretion in urine, Urinary g... |
OMIM:253220 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Noncommunicating hydrocephalus, Agenesis of corpus callosum |
OMIM:619320 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Microcephaly, Cl... |
ORPHA:217346 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima... |
OMIM:619762 |
| Adnp Syndrome |
|
Broad thumb, Sandal gap, Broad hallux, Cerebral atrophy, Umbilical hernia, Single transverse palm... |
ORPHA:404448 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Partial agenesis of the corpus callosum, Elevated circulating creatinine concentratio... |
OMIM:617478 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis, Intrauterine growth retardation, Communicating hydrocephalus, Agenesis of corpus ... |
ORPHA:1780 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis ... |
OMIM:619895 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... |
ORPHA:93111 |
| Hajdu-Cheney Syndrome |
|
Renal cyst, Hydrocephalus, Short stature, Polycystic kidney dysplasia, Hypospadias |
OMIM:102500 |
| Jacobsen Syndrome |
|
Macrocephaly, Microcephaly, Macular hypoplasia, Brachydactyly, Hydrocephalus, Microphthalmia, Cli... |
OMIM:147791 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Inability to walk, Heparan sulfate excretion in urine, Urinary glycosaminoglycan... |
ORPHA:505248 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Short stature, P... |
OMIM:208500 |
| Ring Chromosome 12 Syndrome |
|
Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microcephaly, Syndactyly |
ORPHA:1439 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia, Hydrocephalus, Short stature |
OMIM:259775 |
| Proboscis Lateralis |
|
Abnormal corpus callosum morphology, Macrocephaly, Anophthalmia, Microphthalmia, Holoprosencephal... |
ORPHA:141099 |
| Branchiooculofacial Syndrome |
|
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anomaly, Anophthalmi... |
OMIM:113620 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Intrauterine growth retardation, Nephroblastoma, ... |
ORPHA:1052 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicrogyria, Preaxi... |
ORPHA:2211 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Short stature |
OMIM:250410 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... |
ORPHA:2710 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Myelomeningocel... |
OMIM:258040 |
| Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Microcephaly, Metatarsus adductus, Short metatarsal, Short metac... |
OMIM:123450 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Overlapping toe, Absent septum pellucidum, Hypoplasia of the corpus callosum, S... |
OMIM:613884 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Growth delay, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ectopic k... |
OMIM:607872 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid... |
ORPHA:369837 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly, Anencephaly,... |
OMIM:269860 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:314679 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Postnatal growth retardation, Intrauterine growth retardation, Agenesis of corpus callosum, Colpo... |
OMIM:620113 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:618619 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Ellis Van Creveld Syndrome |
|
Neonatal short-limb short stature, Hydroureter, Abnormality of the ureter, Intrauterine growth re... |
ORPHA:289 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Microcephaly, Finger syndactyly, Camptodactyly of finger |
ORPHA:178303 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Mic... |
OMIM:613451 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Rig... |
OMIM:268310 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Intrauterine growth retardation, Hydrocephalus, Micr... |
OMIM:614083 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal renal morphology, Athetosis, Hydrocephalus |
OMIM:239300 |
| Noonan Syndrome 9 |
|
Short stature, Hydroureter |
OMIM:616559 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Increased CSF lactate, Hypercholesterolemia, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... |
OMIM:603671 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypoplasia of the cere... |
ORPHA:2612 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Intrauterine growth retardation, Azotemia, Hydrocephalus, Micropenis, Short sta... |
OMIM:619321 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Preaxial hand polydactyly, Upper limb undergrowth, Absent septum pell... |
OMIM:236680 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... |
OMIM:305450 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... |
ORPHA:68 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Microcephaly, Brachydactyly, Microphthalmia, Aplasi... |
ORPHA:364577 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Ventriculomegaly, Hypospadias, Growth delay, Dysmetria, Hydronephrosis... |
ORPHA:96121 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial polydacty... |
ORPHA:457284 |
| Poland Syndrome |
|
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... |
ORPHA:2911 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly |
OMIM:313850 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Agenesis of corpus callosum, Postaxial polydactyly, Micro... |
OMIM:174300 |
| Cole-Carpenter Syndrome 1 |
|
Short stature, Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Ataxia, Short stature, Uric ac... |
OMIM:300661 |
| Zellweger Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Short stature |
ORPHA:912 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Microcephaly, Absent radius, Microphthalmia, Complete duplication of t... |
OMIM:227645 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short stature, Lateral ventricle dilatation |
OMIM:618367 |
| Joubert Syndrome |
|
Encephalocele, Gait disturbance, Hydrocephalus, Ataxia |
ORPHA:475 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... |
OMIM:610828 |
| Monosomy 18Q |
|
Secondary growth hormone deficiency, Growth delay, Hydrocephalus, Micropenis, Short stature, Chor... |
ORPHA:1600 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Ventriculomegaly, Ovarian cyst, Communicating hydrocephalus, Enlarged ... |
OMIM:618188 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, Hip dis... |
ORPHA:35173 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... |
OMIM:105120 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... |
OMIM:609049 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly |
OMIM:614800 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Short stature, Hydrocephalus, Micropenis, Hypos... |
ORPHA:163979 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus m... |
ORPHA:314621 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Intrauterine growth retardation, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Incre... |
OMIM:610199 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Growth delay |
OMIM:619774 |
| Alexander Disease |
|
Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Ataxia, Aqueductal stenosis |
ORPHA:58 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Codas Syndrome |
|
Short stature, Hydroureter |
ORPHA:1458 |
| Ohdo Syndrome, X-Linked |
|
Short thumb, Clinodactyly, Overlapping toe, Long thumb, Ulnar deviation of the hand, Hip dysplasi... |
OMIM:300895 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger... |
OMIM:309800 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Hypoplasia of the pons, Cerebral atrophy, Syndactyly |
OMIM:616430 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Hydrocephalus, Ren... |
ORPHA:538 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... |
OMIM:600740 |
| Alveolar Echinococcosis |
|
Hepatic cysts, Abnormal bladder morphology, Renal cyst, Eosinophilia, Ataxia, Pancreatic cysts |
ORPHA:284 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Short stature, Agenesis of corpus callosum |
ORPHA:85201 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... |
OMIM:613550 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticomedullary differentiation... |
OMIM:122470 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Pancreatic cysts, 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, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Cutaneous syn... |
OMIM:620029 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Elongated superior cerebellar peduncle, Hydr... |
OMIM:619512 |
| Thanatophoric Dysplasia, Type I |
|
Disproportionate short-limb short stature, Hydrocephalus, Lethal short-limbed short stature |
OMIM:187600 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Microcephaly, Microphthalmia |
OMIM:610651 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Lateral Meningocele Syndrome |
|
Short stature, Meningocele, Neurogenic bladder, Hydrocephalus |
OMIM:130720 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Multicystic kidney dysplasia, Broad-based gait, Lateral ventricle dilatation, Inabi... |
ORPHA:261537 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Grange Syndrome |
|
Renovascular hypertension, Brachydactyly, Finger clinodactyly, Syndactyly |
OMIM:602531 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Dilated fourth ventricle, Epispadias, Molar tooth sign on MRI, Partial a... |
ORPHA:434179 |
| Hallermann-Streiff Syndrome |
|
Small hand, Congestive heart failure, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Clinod... |
ORPHA:2108 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Schinzel-Giedion Syndrome |
|
Ventriculomegaly, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Ren... |
ORPHA:798 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Ventriculomegaly, Rhizomelia, Grow... |
ORPHA:818 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarpal |
OMIM:201180 |
| Radio-Renal Syndrome |
|
Severe short stature, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Ren... |
ORPHA:3015 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Long fingers, Microphthalmia... |
OMIM:616734 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Subependymal nodules, Renal cyst |
OMIM:191100 |
| Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
| Desmosterolosis |
|
Rhizomelia, Ventriculomegaly, Abnormal circulating cholesterol concentration, Elevated circulatin... |
OMIM:602398 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
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, Femoral bowing, Short sternum, Large hands, Macrocephaly, Congenital ps... |
ORPHA:2563 |
| Acrofacial Dysostosis 1, Nager Type |
|
Short stature, Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
| Developmental And Epileptic Encephalopathy 31B |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:620352 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Meningioma |
|
Secondary growth hormone deficiency, Brain stem compression, Increased circulating prolactin conc... |
ORPHA:2495 |
| Hurler Syndrome |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Hydrocephalus, Dermatan ... |
OMIM:607014 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Severe short stature, Encephalocele, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Postaxial polydactyly,... |
OMIM:300968 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Polymicrogyria, Umbilical hernia, Syndactyly |
OMIM:614520 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Ventriculomegaly, Hypospadias, Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, 2-3 toe syndacty... |
ORPHA:96201 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly, Coxa valga, Prima... |
OMIM:619297 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Intrauterine growth retardatio... |
OMIM:200980 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Ventriculomegaly, Disproportionate short-limb short stature, Rhizom... |
ORPHA:709 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Achondroplasia |
|
Rhizomelia, Disproportionate short stature, Hydrocephalus |
ORPHA:15 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Ventriculomegaly, Oligosacchariduria, Renal insufficiency, Nephr... |
ORPHA:534 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cyst, Subependymal nodules, Renal cell carcinoma, Absence of renal co... |
OMIM:613254 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Apert Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Absent septum pellucidum, Agenesis of... |
ORPHA:87 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:3309 |
| Hamamy Syndrome |
|
Prolonged QRS complex, Mitral regurgitation, Down-sloping shoulders, Long toe, Tapered finger, Lo... |
OMIM:611174 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Dubowitz Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis, Hydrocephalus, Sho... |
ORPHA:235 |
| Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts |
ORPHA:1190 |
| Medulloblastoma |
|
Dysmetria, Hydrocephalus, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Progressive... |
ORPHA:616 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Hypoplasia of the pons, Renal cyst, Hypospadias, Dandy-Walker malformation |
ORPHA:495875 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Multicystic kidney dysplasia, Broad-based gait, Duplication of renal pelvis, Latera... |
ORPHA:261552 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Congenital Syphilis |
|
Nephrotic syndrome, Intrauterine growth retardation, Hydrocephalus, CSF pleocytosis |
ORPHA:499009 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... |
ORPHA:2473 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia... |
OMIM:617925 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Horseshoe kidney, Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Enlarged ... |
OMIM:306955 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Mildly elevated creatine kinase, Waddling gait |
OMIM:620351 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly |
OMIM:217100 |
| Mucopolysaccharidosis Type 1 |
|
Short stature, Mucopolysacchariduria, Hydrocephalus |
ORPHA:579 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... |
OMIM:263650 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Cockayne Syndrome B |
|
Square pelvis bone, Cerebral atrophy, Hypoplasia of the iris, Hypoplastic iliac wing, Basal gangl... |
OMIM:133540 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Ventriculomegaly, Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
| Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Abnormality of the ureter, Elevated circulating creatine kinas... |
ORPHA:800 |
| Tarp Syndrome |
|
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... |
ORPHA:2886 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... |
ORPHA:91350 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal renal morphology, Hydrocephalus |
OMIM:207410 |
| Choreoacanthocytosis |
|
Loss of ambulation, Falls, Lateral ventricle dilatation, Elevated circulating creatine kinase con... |
ORPHA:2388 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp, Ovarian cyst |
OMIM:175200 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Hydrocephalus, Short stature, Spina bifida occulta, Partial agenesi... |
OMIM:300373 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos |
ORPHA:91495 |
| Fryns Syndrome |
|
Renal agenesis, Agenesis of corpus callosum, Hydronephrosis, Renal cyst, Ureteral duplication, Hy... |
OMIM:229850 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of f... |
OMIM:618164 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Hydrocephalus, Hypoplasia of the pons |
OMIM:620155 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Legius Syndrome |
|
Polydactyly, Paroxysmal atrial tachycardia, Macrocephaly, Clinodactyly of the 5th finger, Pulmoni... |
ORPHA:137605 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, Short stature, Hydrocephalus |
ORPHA:1340 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia |
OMIM:221900 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis, Short stature, Hydrocephalus |
OMIM:115150 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Ureteral duplication, Short stature |
OMIM:610733 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Intrauterine growth retardat... |
OMIM:300707 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Whipple Disease |
|
Hyponatremia, Hydrocephalus, Ataxia |
ORPHA:3452 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation |
OMIM:617107 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Aicardi Syndrome |
|
Small hand, Polymicrogyria, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, H... |
ORPHA:50 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Split ... |
ORPHA:958 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Short finger, Microcephaly, Short digit, Microphtha... |
OMIM:608670 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Single transverse palmar crease, Microcephaly, Microphthalmia, Clinodacty... |
OMIM:223370 |
| Hurler Syndrome |
|
Short stature, Mucopolysacchariduria, Growth delay, Hydrocephalus |
ORPHA:93473 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries |
ORPHA:2969 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Portal hypertension, Microcephaly, Pulmonary arterial hypertension, Hip dysplasia, Mi... |
OMIM:620005 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Ventriculomegaly, Hyperbilirubinemia, Hypocalcemia, Hydrocephalus, Short stature, Growth delay |
OMIM:259720 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... |
OMIM:277000 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Kbg Syndrome |
|
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, M... |
OMIM:148050 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Aplasia... |
OMIM:200990 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Microcephaly, Microphthalmia |
OMIM:601675 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Ataxia |
ORPHA:97339 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Ureteral hypo... |
OMIM:614080 |
| 1P36 Deletion Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydronephrosis, Renal cyst, Gait disturbance, Abno... |
ORPHA:1606 |
| Aymé-Gripp Syndrome |
|
Ventriculomegaly, Postnatal growth retardation, Proteinuria, Hydrocephalus, Short stature |
ORPHA:1272 |
| Mucopolysaccharidosis Type 3 |
|
Ventriculomegaly, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Loss o... |
ORPHA:581 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Encephalocele, Hydrocephalus |
ORPHA:1865 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Hypocalcemia |
OMIM:259700 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Carpenter Syndrome 1 |
|
Hydronephrosis, Spina bifida occulta, Hydroureter, Short stature |
OMIM:201000 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... |
ORPHA:989 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Tricuspid regurgitation, Brachydactyly, Macrocephaly, Camptodactyly, S... |
OMIM:616894 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Short thumb, Telangiectasia, Talipes equinovarus, Forearm... |
OMIM:268400 |
| Trisomy 8P |
|
Nephrocalcinosis, Agenesis of corpus callosum, Hydronephrosis, Hydrocephalus, Micropenis, Fetal p... |
ORPHA:264450 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... |
ORPHA:570 |
| Cockayne Syndrome A |
|
Ventriculomegaly, Intrauterine growth retardation, Renal insufficiency, Proteinuria, Severe postn... |
OMIM:216400 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... |
ORPHA:49 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:619471 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... |
ORPHA:2215 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Pili Torti-Onychodysplasia Syndrome |
|
Cutaneous syndactyly, Palmoplantar keratoderma |
ORPHA:2890 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Inability to walk, Ureteral duplication, Duplication of renal pelvis, Waddling gait |
ORPHA:457212 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Floating-Harbor Syndrome |
|
Hypospadias, Nephrocalcinosis, Broad-based gait, Dilatation of the renal pelvis, Renal agenesis, ... |
ORPHA:2044 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cerebellar vermis hypoplasia, Cavum septum pellucidum, Secondary microcephaly, Umbilical hernia, ... |
OMIM:620654 |
| Peroxisome Biogenesis Disorder 4B |
|
Gait disturbance, Ureterocele, Ataxia |
OMIM:614863 |
| Monosomy 9P |
|
Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Agenesis of corpus c... |
ORPHA:261112 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Ventriculomegaly, Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysp... |
ORPHA:280633 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Macr... |
OMIM:620025 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Agenesis of corpus callosum, Dysplastic corpus callosum, Chordee, Colpocephaly, Urogenital sinus ... |
OMIM:618820 |
| Hartsfield Syndrome |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Agenesis of corpus callosum,... |
OMIM:615465 |
| Townes-Brocks Syndrome 1 |
|
Broad thumb, Tethered cord, Preaxial hand polydactyly, 3-4 toe syndactyly, Umbilical hernia, Pseu... |
OMIM:107480 |
| Achondroplasia |
|
Hydrocephalus, Rhizomelia, Brain stem compression, Neonatal short-limb short stature |
OMIM:100800 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormality of the uri... |
ORPHA:95699 |
| Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Hypoplasia of the corpus callosum, Ara... |
OMIM:613406 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Hydrocephalus, Ataxia |
ORPHA:220295 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Cerebral atrophy, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, M... |
ORPHA:17 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:244 |
| Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Delayed puberty, Hydrocephalus, Short stature, Hypospadias |
ORPHA:955 |
| Traboulsi Syndrome |
|
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia |
OMIM:601552 |
| Coccidioidomycosis |
|
Increased CSF protein concentration, Hypoglycorrhachia, Renal insufficiency, CSF lymphocytic plei... |
ORPHA:228123 |
| Trisomy 10P |
|
Intrauterine growth retardation, Multiple renal cysts, Abnormality of the kidney, Growth delay, D... |
ORPHA:171929 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Ventriculomegaly, Disproportionate short-limb short stature, Agenesis of corpus... |
ORPHA:93271 |
| Cole-Carpenter Syndrome |
|
Short stature, Intrauterine growth retardation, Communicating hydrocephalus |
ORPHA:2050 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Intrauterine growth retardation, Hydrocephalus |
OMIM:616914 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Short hallux, Short 5t... |
ORPHA:508488 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| 6Q Terminal Deletion Syndrome |
|
Gait ataxia, Dysmetria, Phimosis, Colpocephaly, Hypospadias |
ORPHA:75857 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Tibial bowing, Phthisis bulbi, Microcephaly, Metaphyseal widening, Microphthalmia |
OMIM:259770 |
| Wilson Disease |
|
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Face of the giant panda sign, Hyperbili... |
OMIM:277900 |
| Distal Deletion 12Q |
|
Growth delay, Pituitary adenoma, Vesicoureteral reflux, Hydronephrosis, Short stature, Ectopic ki... |
ORPHA:96149 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Stenosis of the me... |
ORPHA:93325 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Enlarged kidney |
OMIM:261740 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... |
OMIM:269500 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia |
ORPHA:65285 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short stature, Growth delay, Hydrocephalus, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ventriculomegaly, Hydroureter, Ureteral stenosis, Postnatal growth retardation, Hydronephrosis, M... |
OMIM:269150 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Syringomyelia, Deep palmar crease, Lipomyelomeningocele, ... |
OMIM:616580 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Dilated fourth ventricle, Molar tooth sign on MRI, Hypoplas... |
OMIM:619306 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Disproportionate short-trunk short stature, Hydrocephalus, Dermatan sulfate ... |
OMIM:253200 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Absent septum pellucidum, Agenesis of corpus callosum, Abnormal digit morphology, Po... |
ORPHA:95494 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Pulmonic stenosis, Absent radius |
OMIM:115470 |
| Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... |
ORPHA:1507 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping... |
OMIM:265000 |
| Icf Syndrome |
|
Short stature, Communicating hydrocephalus |
ORPHA:2268 |
| Oculoauricular Syndrome |
|
Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia |
OMIM:612109 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Agenesis of corpus callosum, Hydroneph... |
ORPHA:373 |
| Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus |
ORPHA:2306 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Increased circulating prolactin concentration, Decreased response t... |
ORPHA:293987 |
| Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Microcephaly, Hand polydactyly, Clinodac... |
OMIM:210900 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
| Osteogenesis Imperfecta |
|
Ventriculomegaly, Rhizomelia, Brain stem compression, Intrauterine growth retardation, Nephrolith... |
ORPHA:666 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, An... |
OMIM:164210 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI, Ataxia |
OMIM:612291 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormally large globe, Hypoplasia of the corpus callosum, Polydactyly, Sy... |
ORPHA:2729 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Colpocephaly |
ORPHA:261250 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Microcephaly, Spina bifida occulta,... |
ORPHA:2990 |
| Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo... |
OMIM:236100 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly, Microphthalmia |
OMIM:617666 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broa... |
OMIM:612474 |
| Degcags Syndrome |
|
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Agenesis of cor... |
OMIM:619488 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Fetal megacystis |
OMIM:619362 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Polymi... |
OMIM:615948 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Roberts-Sc Phocomelia Syndrome |
|
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture... |
OMIM:268300 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Finger syndactyly, Absent septum pellucidum, Agenesis of corpus callosum, Abno... |
ORPHA:2658 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Growth delay, Recurrent urinary tract infections, Reduced renal co... |
ORPHA:731 |
| Stolerman Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Broad palm, Syndactyly |
OMIM:618505 |
| Ogden Syndrome |
|
Ventriculomegaly, Growth delay, Postnatal growth retardation, Intrauterine growth retardation, Hy... |
OMIM:300855 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... |
OMIM:253280 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Growth delay, Postnatal growth retardation, Intrauterine growth ret... |
ORPHA:1596 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:137667 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla... |
OMIM:263750 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
| Gaucher Disease |
|
Ataxia, Ventriculomegaly, Increased circulating ferritin concentration, Hematuria, Proteinuria, D... |
ORPHA:355 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Saethre-Chotzen Syndrome |
|
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... |
ORPHA:794 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Short 5th toe, 2-4 toe cu... |
ORPHA:268261 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Macrocephaly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, H... |
OMIM:613610 |
| Carpenter Syndrome 2 |
|
Broad thumb, Preaxial polydactyly, Tricuspid regurgitation, Umbilical hernia, Cutaneous finger sy... |
OMIM:614976 |
| Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occulta, Renal malrotati... |
ORPHA:500095 |
| Trichothiodystrophy |
|
Cerebral cortical atrophy, Cardiomyopathy, Bilateral microphthalmos, Umbilical hernia, Periventri... |
ORPHA:33364 |
| Incontinentia Pigmenti |
|
Retinal hemorrhage, Microcephaly, Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
| Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney, Postnatal growth retardation |
OMIM:117650 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Difficulty walking, ... |
ORPHA:90324 |
| Phace Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventriculomegaly, Broad-based gait, Falls, Tip-toe gait, Intrauterine growth retardation, Hyperbi... |
OMIM:619475 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Ventriculomegaly, Difficulty walking, Gait ataxia, Micropenis, Communicating hydrocephalus |
ORPHA:457359 |
| Neuroocular Syndrome 1 |
|
Prominent fingertip pads, Tibial torsion, Umbilical hernia, Periventricular leukomalacia, Hypopla... |
OMIM:619539 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Horseshoe kidney, Intrauterine growth retardation, Hydronephr... |
ORPHA:3310 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Cerebellar vermis hypoplasia, Umbilical hernia, Tricuspid regurgi... |
OMIM:612289 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H... |
OMIM:216340 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Relative macrocephaly, N... |
ORPHA:96182 |
| Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac... |
OMIM:176270 |
| Cerebellofaciodental Syndrome |
|
Short stature, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the midbrain |
OMIM:616202 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma |
OMIM:193300 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E... |
OMIM:130650 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:613603 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Growth delay |
ORPHA:2995 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Postnatal growth retardation, Hydrocephalus |
ORPHA:536467 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Intrauterine growth retardation, Short stature, Abnormality of iron homeostasis... |
ORPHA:84064 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Urethral atresia, Hydrocephalus |
OMIM:273395 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Abnormal corpus callosum morphology, Broad distal phalanx of finger, Broad... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Abnormal corpus callosum morphology, Broad distal phalanx of finger, Broad... |
ORPHA:353277 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short stature, Rhizomelia, Hydrocephalus |
OMIM:245600 |
| Joubert Syndrome 38 |
|
Small pituitary gland, Ectopic posterior pituitary, Decreased response to growth hormone stimulat... |
OMIM:619476 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Ventriculomegaly, Intrauterine growth retardation, Vesicoureteral r... |
ORPHA:199 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... |
OMIM:118450 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Ataxia, Horseshoe kidney, Vesicoureteral reflux, Hypertriglyceridemia, Po... |
ORPHA:110 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Hydrocephalus |
ORPHA:261337 |
| Williams Syndrome |
|
Polycystic ovaries, Ataxia, Renal insufficiency, Renal duplication, Dysmetria, Multiple renal cys... |
ORPHA:904 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Semilobar holoprosencephaly, Hydroureter, Ureterocele, Renal agenes... |
OMIM:129900 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Chordee, Hypospadias |
ORPHA:477993 |
| Townes-Brocks Syndrome |
|
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... |
ORPHA:857 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... |
ORPHA:93924 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Microphth... |
OMIM:175780 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clinodactyly of the 5th finger,... |
ORPHA:96123 |
| Cutis Marmorata Telangiectatica Congenita |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst, Disproportionate short-trunk short stature |
OMIM:272460 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Ventriculomegaly, Intrauterine growth retardation, Hydronephrosis, Hydrocephalus, Short stature, ... |
OMIM:616462 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Decreased res... |
OMIM:604292 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Hydrocephalus |
OMIM:618162 |
| Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Growth delay, Increased circulating prolactin concentration, Recurrent urinary tract infe... |
ORPHA:3455 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... |
OMIM:309500 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Polycystic kidney dysplasia, Conjugated hyperbilirubinemia, Abnormality of th... |
ORPHA:480520 |
| Mosaic Trisomy 16 |
|
Short forearm, Short thumb, Clinodactyly, Large placenta, Single transverse palmar crease, Short ... |
ORPHA:1708 |
| Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Microphthalmia |
OMIM:153400 |
| C Syndrome |
|
Short stature, Renal cortical cysts |
OMIM:211750 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... |
ORPHA:352665 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal renal morphology, Hydroc... |
ORPHA:363700 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Ventriculomegaly, Disproportionate short-limb short stature, Rhizomelia, Postna... |
OMIM:261540 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, 2-3 finger syndactyly,... |
OMIM:312870 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f... |
OMIM:227330 |
| Cockayne Syndrome |
|
Abnormal epiphysis morphology, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificat... |
ORPHA:191 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren... |
ORPHA:116 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Crossed fused renal ectopia, Intrauterine growth retardation,... |
OMIM:619841 |
| Diphallia |
|
Penoscrotal transposition, Renal malrotation, Horseshoe kidney, Distal urethral duplication, Rena... |
ORPHA:227 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Disproportionate short-limb sho... |
OMIM:619194 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Finger syndactyly, Micromelia, Preaxi... |
ORPHA:2753 |
| Robinow Syndrome |
|
Mesomelia, Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Bifid distal... |
ORPHA:97360 |
| Full Nf2-Related Schwannomatosis |
|
Hydrocephalus, Unsteady gait, Myelopathy, Brain stem compression |
ORPHA:637 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Slender finger, Small hand, Congenital hip dislocation, Abnormal cortical gyration, Cerebellar ve... |
ORPHA:480880 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Broad hallux, Clinodactyly, Branchial cyst, Single transverse palmar crease, Pulmonary arterial h... |
OMIM:620186 |
| Alpha-Mannosidosis, Infantile Form |
|
Ataxia, Communicating hydrocephalus, Oligosacchariduria, Recurrent urinary tract infections |
ORPHA:309282 |
| Wolf-Hirschhorn Syndrome |
|
Ventriculomegaly, Growth delay, Intrauterine growth retardation, Agenesis of corpus callosum, Sev... |
OMIM:194190 |
| Marshall-Smith Syndrome |
|
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:602535 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short stature, Hydroureter |
OMIM:610759 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Macrocephaly, Avascula... |
ORPHA:3107 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Perivent... |
OMIM:309000 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c... |
OMIM:304150 |
| Adult Syndrome |
|
Toe syndactyly, Finger syndactyly, Split foot |
ORPHA:978 |
| White-Kernohan Syndrome |
|
Horseshoe kidney, Dysplastic corpus callosum, Hydronephrosis, Hydroureter |
OMIM:619426 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Hydroureter |
OMIM:305620 |
| Alstrom Syndrome |
|
Polydactyly, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
OMIM:203800 |
| Costello Syndrome |
|
Short stature, Ventriculomegaly, Renal insufficiency, Hydrocephalus |
OMIM:218040 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly |
OMIM:129400 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Ventriculomegaly, Limb ataxia, Delayed puberty, Hydrocephalus, Growth delay |
ORPHA:2072 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly |
ORPHA:769 |
| Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... |
ORPHA:2036 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst... |
ORPHA:892 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Postnatal growth retardation, Intrauterine growth retardation, Gai... |
OMIM:135900 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... |
ORPHA:69085 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Ventriculomegaly, Communicating hydrocephalus, Gait ataxia |
OMIM:617011 |
| Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Polydactyly |
OMIM:301022 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Dural ectasia, Umbilical hernia, Absent distal phalanges, Arachnod... |
OMIM:610168 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long penis, Intrauterine growth retardation, Agenesis of corpus callosum, Hydrocephalus, Hypertri... |
OMIM:264090 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly |
OMIM:301043 |
| Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Hydronephrosis, Spina bifida occulta, Growth delay, Urethral stenosis |
ORPHA:1826 |
| Alg9-Cdg |
|
Rhizomelia, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, Hydroneph... |
ORPHA:79328 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventriculomegaly, Growth delay, Renal ag... |
OMIM:308205 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hyper... |
OMIM:301068 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydronephrosis, Colpocephaly, Micropenis |
OMIM:606170 |
| Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Corneal neovasculariz... |
ORPHA:2363 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventriculomegaly, Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Hydrone... |
OMIM:265380 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy... |
OMIM:157170 |
| Eec Syndrome |
|
Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro... |
ORPHA:1896 |
| Early Infantile Epileptic Encephalopathy |
|
Ureterocele, Renal dysplasia, Episodic ataxia, Micropenis, Choreoathetosis |
ORPHA:1934 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Neurofibromatosis Type 1 |
|
Abnormality of the upper urinary tract, Delayed puberty, Hydrocephalus, Ataxia, Short stature |
ORPHA:636 |
| Shprintzen-Goldberg Syndrome |
|
Ventriculomegaly, Communicating hydrocephalus |
ORPHA:2462 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... |
OMIM:149730 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Ventriculomegaly, Growth delay, Broad-based gait, Ina... |
ORPHA:2152 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Short stature, Gait disturbance, Hydrocephalus |
ORPHA:3042 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... |
ORPHA:2907 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Hippocampal atrophy, Radioulnar synostosis, Microcephal... |
OMIM:619325 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, Short foot |
ORPHA:1974 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Hypophosphatemia, Growth delay, Hypocalcemia |
ORPHA:667 |
| Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Polymicrogyria, Sirenomelia, Aplasia/Hypoplasia... |
ORPHA:79500 |
| C Syndrome |
|
Horseshoe kidney, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia |
ORPHA:1308 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... |
OMIM:617088 |
| Chand Syndrome |
|
Hydroureter, Ataxia |
ORPHA:1401 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Short stature, Hydroureter, Tip-toe gait |
OMIM:620450 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Postnatal growth retardation, Birth length less than... |
ORPHA:3404 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Cerebellar vermis hypoplasia, Sandal gap, Umbilical hernia, Microcephaly, Cutan... |
OMIM:620330 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly |
ORPHA:1521 |
| Baller-Gerold Syndrome |
|
Severe short stature, Agenesis of corpus callosum, Hydrocephalus, Abnormality of the kidney, Seve... |
OMIM:218600 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Umbilical hernia, Arrhythmia, Brachydactyly, Clinodactyly of the 5t... |
ORPHA:1519 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Renal hypoplasia, Intrauterine growth retardation, Ureteral stenosis |
OMIM:270100 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxi... |
OMIM:609192 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Abnormality of the urinary system, Hydroureter, Intrauterine growth retarda... |
ORPHA:2636 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Proteus Syndrome |
|
Macrodactyly, Pulmonary embolism, Finger syndactyly, Abnormality of the wrist, Sirenomelia, Metat... |
ORPHA:744 |
| Pallister-Killian Syndrome |
|
Rhizomelia, Ventriculomegaly, Growth delay, Inability to walk, Mesomelic/rhizomelic limb shorteni... |
OMIM:601803 |
| Sotos Syndrome |
|
Ventriculomegaly, Renal agenesis, Hypercalcemia, Vesicoureteral reflux, Renal insufficiency, Uret... |
ORPHA:821 |
| Mowat-Wilson Syndrome |
|
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ... |
OMIM:235730 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Severe short stature, Hydroureter, Agenesis of corpus callosum, Hydronephrosis, Abnormality of th... |
ORPHA:2273 |
| Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Urethral diverticulum |
OMIM:212093 |
| Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:208150 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Norrie Disease |
|
Cerebral cortical atrophy, Hypoplasia of the iris, Microcephaly, Aplasia/Hypoplasia of the cerebe... |
ORPHA:649 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly |
ORPHA:1071 |
| Mucopolysaccharidosis Type 2 |
|
Short stature, Communicating hydrocephalus, Growth delay |
ORPHA:580 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Intrauterine growth retardation, Anterior pituitary agenesis |
ORPHA:2255 |
| Kindler Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... |
ORPHA:2908 |
| Hennekam Syndrome |
|
Pachygyria, Finger syndactyly, Camptodactyly of finger |
ORPHA:2136 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Increased circulating prolactin concentration, Reduced thyroxin-binding globulin... |
ORPHA:79318 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Intrauterine growth retardation, Glycosuria |
OMIM:600001 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Intrauterine growth retardation, Hypospadias |
OMIM:275210 |
| Restrictive Dermopathy |
|
Ureteral duplication, Intrauterine growth retardation, Hypospadias |
ORPHA:1662 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
