| Gombo Syndrome |
|
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... |
ORPHA:64754 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... |
OMIM:613885 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... |
OMIM:616570 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... |
OMIM:164180 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... |
OMIM:615771 |
| Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... |
OMIM:602200 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... |
ORPHA:139471 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... |
ORPHA:3265 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... |
OMIM:206920 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Micropenis |
OMIM:300982 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Cach Syndrome |
|
T2 hypointense thalamus, Nonketotic hyperglycinemia, Renal hypoplasia, Dysmetria, Growth delay, T... |
ORPHA:135 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Abn... |
ORPHA:79243 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Ataxia, Stage 5 chronic kidney disease, Lateral ventricle dilat... |
OMIM:608629 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Microcephaly |
OMIM:614082 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... |
OMIM:611134 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... |
OMIM:615665 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... |
OMIM:617255 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Short stature, Hypospadias |
OMIM:618330 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Renal cyst |
OMIM:614870 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... |
OMIM:603546 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... |
ORPHA:166024 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An... |
ORPHA:2189 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gait disturbance, Urinary i... |
OMIM:221770 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Degeneration of anterior horn cells, Hypoplasia of t... |
OMIM:607596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... |
OMIM:613155 |
| Seckel Syndrome 2 |
|
Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge... |
OMIM:182230 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, R... |
OMIM:615993 |
| Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly |
ORPHA:63862 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly |
OMIM:617119 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
| Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Nephronophthisis, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... |
OMIM:616171 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tubulointerstitial nephritis, La... |
ORPHA:488627 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Microcephaly |
ORPHA:3469 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Hartsfield Syndrome |
|
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... |
ORPHA:2117 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Masa Syndrome |
|
Short stature, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Severe postnatal growth retardation, Lateral ventricle dilatation, Vesi... |
ORPHA:3078 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
| 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, Syndactyly, Macrocephaly, Tapered finger |
OMIM:618725 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly |
ORPHA:324416 |
| Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Short stature, Abnormal midbrain morphology, Inability... |
ORPHA:356961 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... |
OMIM:136760 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... |
OMIM:300863 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Ataxia |
OMIM:615889 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... |
ORPHA:1120 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation, Hypoplasia of the brainstem,... |
OMIM:617751 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... |
ORPHA:370010 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr... |
ORPHA:1908 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature |
OMIM:619420 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot, Microcephaly |
OMIM:601349 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Microcephaly |
OMIM:619981 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Polycystic kidney dysplasia |
OMIM:617562 |
| Lissencephaly 4 |
|
Growth delay, Agenesis of corpus callosum, Colpocephaly, Short stature |
OMIM:614019 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
| Joubert Syndrome 4 |
|
Renal insufficiency, Ataxia, Abnormal renal medulla morphology, Stage 5 chronic kidney disease, N... |
OMIM:609583 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lateral ventricle dilatation |
OMIM:617668 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasi... |
OMIM:611560 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Paganini-Miozzo Syndrome |
|
Hyperalaninemia, Lateral ventricle dilatation, Urinary incontinence |
OMIM:301025 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk, Renal cyst |
OMIM:614970 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypospadias |
ORPHA:250994 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal brain... |
ORPHA:300573 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Cofs Syndrome |
|
Cerebral calcification, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cerebell... |
ORPHA:1466 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation, Eleva... |
OMIM:231670 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia, Short stature, Abnormal brainstem morphology |
ORPHA:1532 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly |
ORPHA:261272 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis, Ventriculomegaly |
OMIM:617127 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... |
OMIM:300337 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Trisomy 1Q |
|
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... |
ORPHA:261344 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration... |
OMIM:617056 |
| Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic... |
OMIM:300887 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Inability to walk, Lateral ventricle dilatation |
OMIM:615716 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Hyperlysinuria, Incr... |
OMIM:616034 |
| Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... |
OMIM:615862 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Renal insufficiency, Short stature, Hypospadias, Elong... |
ORPHA:397715 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Renal cyst, Horseshoe kidney, Molar tooth sign on MRI, Intrauterine grow... |
OMIM:614815 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ... |
OMIM:614105 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Hyperglycinemia, Hyposerinemia |
ORPHA:284417 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Glutaric aciduria, Lateral ventricle dilatation, D-2-hydroxyglutaric aciduria |
OMIM:600721 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... |
OMIM:600118 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Gait imbalance, Intrauterine gr... |
ORPHA:488635 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Macrocephaly, Large ha... |
ORPHA:3219 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Coach Syndrome 3 |
|
Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nep... |
OMIM:619113 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:618736 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation |
ORPHA:3032 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Dandy-Walke... |
OMIM:618606 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Inability to walk, Lateral ventricle dilatation, Pontocerebellar atrophy |
OMIM:617854 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... |
OMIM:601707 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia |
OMIM:617244 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly |
OMIM:147250 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, Subependymal cysts, Lateral ventricle dilatation, Decreased CSF... |
OMIM:610015 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... |
OMIM:600325 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
| Distal Deletion 10Q |
|
Short stature, Ataxia, Postnatal growth retardation, Functional abnormality of the bladder, Spina... |
ORPHA:96148 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... |
OMIM:251270 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Molar to... |
OMIM:614175 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... |
OMIM:207950 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
| Cog5-Cdg |
|
Neurogenic bladder, Short stature, Urinary incontinence, Truncal ataxia, Lateral ventricle dilata... |
ORPHA:263487 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... |
OMIM:603387 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Ataxia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:618174 |
| Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... |
OMIM:300049 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... |
ORPHA:487825 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Williams-Beuren Region Duplication Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ... |
OMIM:609757 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... |
ORPHA:3378 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Abnormal renal corticomedullary differentiation, Ventriculomegaly |
OMIM:617397 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy... |
OMIM:157900 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ... |
OMIM:619694 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ventriculomegaly, Ectopic kidney |
OMIM:613730 |
| Fried Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:85335 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... |
ORPHA:3210 |
| Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature |
ORPHA:208447 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Gait disturbance |
ORPHA:3270 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Stage 5 chronic kidney diseas... |
OMIM:610688 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha... |
OMIM:614219 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Hemoly... |
OMIM:611209 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hyperalaninemia, Lateral ventricle dilatation, Short stature, Micropenis |
OMIM:619847 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
| Joubert Syndrome 15 |
|
Ataxia, Exencephaly, Nephronophthisis, Molar tooth sign on MRI, Micropenis |
OMIM:614464 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Broad-based gait |
OMIM:619470 |
| Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem |
ORPHA:420179 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Renal hypoplasia |
OMIM:618914 |
| Pierpont Syndrome |
|
Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Pr... |
OMIM:602342 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Elevated circulating creatine kinase concentration, Dysplastic corpus callosum, Unilateral renal ... |
OMIM:619955 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... |
OMIM:161200 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... |
OMIM:613776 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... |
ORPHA:93267 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Steppage gait |
OMIM:256850 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hypoplasia o... |
OMIM:619302 |
| Coach Syndrome 2 |
|
Hydrocephalus, Elevated circulating creatinine concentration, Molar tooth sign on MRI, Hyperechog... |
OMIM:619111 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Short stature, Hydrocephalus, Horseshoe kidney, Agenesis of corpus callosum, Ventric... |
OMIM:218350 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Intrauterine growth retardation, Urete... |
OMIM:617557 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of the brainstem, Multinucleated neur... |
OMIM:236500 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Renal fibrosis, Molar t... |
OMIM:618161 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Thickened glomerular baseme... |
OMIM:619487 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Hyd... |
OMIM:613154 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance, Urinary incontinence |
OMIM:236690 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Renal cyst, Growth delay, Hypoplasia of the br... |
OMIM:614424 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Ab... |
ORPHA:1834 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia |
OMIM:276950 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Lateral ventricle dilatation, Tip-toe gait, Atrophy/Degeneration affecting... |
ORPHA:565624 |
| Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus call... |
OMIM:616362 |
| Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Hypertension, Short palm |
ORPHA:79094 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly |
OMIM:300804 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared metaphysis, Hip... |
OMIM:610758 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... |
OMIM:615249 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Proteinuria, Macroscopic ... |
ORPHA:251004 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... |
OMIM:607131 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... |
ORPHA:99776 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... |
ORPHA:564 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Ataxia, Brainstem dysplasia... |
OMIM:608091 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla... |
ORPHA:508498 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... |
ORPHA:2538 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Postnatal growth retardation, Inability to walk, Partial agenesis of the corpus c... |
ORPHA:300570 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Meningocele, Renal cyst, Ventriculomegaly |
ORPHA:2031 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... |
ORPHA:974 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Hydrocephalus, Micropenis, Hypothalamic hamartoma, Anteri... |
OMIM:241800 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... |
OMIM:618291 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Hydrocephalus, Renal hypoplasia, Growth delay, Vesicoureteral reflux, ... |
ORPHA:85284 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Dysmetria, Athetosis, Lateral ventricle dilatation, Hypoplasia ... |
ORPHA:572798 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir... |
OMIM:617296 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia, Microcephaly |
OMIM:616910 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria |
OMIM:203450 |
| Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... |
ORPHA:1926 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Agenesis of cor... |
ORPHA:264200 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disease, Ventriculomegaly |
OMIM:612285 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Inability to walk, Lateral ventricle dilatation, Male urethral meatus stenosis, Diff... |
ORPHA:464738 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... |
OMIM:251230 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo... |
OMIM:258860 |
| Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Myelomeningocele, Porencepha... |
ORPHA:1393 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly |
ORPHA:858 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... |
OMIM:180860 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft, Fusion of the left... |
OMIM:617542 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp... |
OMIM:219730 |
| Trisomy 18 |
|
Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Apl... |
ORPHA:3380 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... |
ORPHA:60040 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly |
OMIM:610756 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Ataxia, Unilateral renal agenesis, Multiple small medulla... |
OMIM:216360 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... |
ORPHA:3412 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... |
OMIM:614833 |
| Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... |
ORPHA:1101 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Horseshoe kidney, Growth delay, Vesicoureteral reflux, Agenesis of ... |
ORPHA:238769 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Postnatal growth retardation, Hemolytic-uremic syndrome, Hydro... |
ORPHA:2169 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Lateral ventricle dilatation, Micropenis, Penile hypospadias, A... |
ORPHA:1692 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... |
OMIM:256520 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnorma... |
ORPHA:819 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Disproportionate short-limb sho... |
OMIM:619479 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ... |
OMIM:618142 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Hydrocephalus, Chronic kidney disease, Nephronophthisis, Ventriculomegaly |
OMIM:615630 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Nephrotic syndrome, Hydrocephalus |
OMIM:269920 |
| Temtamy Syndrome |
|
Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,... |
OMIM:218340 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ... |
OMIM:615996 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal localization of kidney |
ORPHA:83473 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Short stature, Renal hypoplasia/aplasia |
ORPHA:1166 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Hydrocephalus, Gait disturbance, Micropenis, Dilated third ventricle, Ventriculome... |
ORPHA:500055 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
| Femoral-Facial Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycystic ... |
ORPHA:1988 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Spinal cord tumor, Aplasia/Hypoplasia o... |
ORPHA:2162 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene... |
OMIM:612863 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Short stature |
ORPHA:1035 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Micro... |
OMIM:618804 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... |
ORPHA:293725 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere... |
ORPHA:435638 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Hydrocephalus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Difficulty walking |
ORPHA:401815 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia |
OMIM:617761 |
| Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Short stature, Ataxia |
ORPHA:31 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:272 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... |
ORPHA:370959 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Dandy-Walker ma... |
OMIM:614846 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Macrocephaly, Camptodac... |
ORPHA:251038 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| 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 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Ataxia, Postnatal growth retardation, Gait disturbance, Difficu... |
ORPHA:90321 |
| Martsolf Syndrome 1 |
|
Short metacarpal, Cardiac arrest, Microcephaly, Metatarsus adductus, Slender ulna, Short toe, Ost... |
OMIM:212720 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Short stature, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia,... |
ORPHA:97362 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Monosomy 18P |
|
Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger |
ORPHA:48431 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Global ... |
OMIM:614225 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Dandy-Walker malformation, Nephri... |
OMIM:217090 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance |
ORPHA:275543 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Hydrocephalus, Renal tubular acidosis, Lateral ventricle dilatation, Dilated third... |
OMIM:619575 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Ataxia, Inability to walk, Lateral ventricle dilatation, Intr... |
OMIM:619229 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases, Secondary microcephaly |
OMIM:618652 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
| Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... |
OMIM:120330 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Hydrocephalus, Intrauterine g... |
OMIM:220210 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ... |
OMIM:609053 |
| Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:391474 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... |
OMIM:614643 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c |
OMIM:619278 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postn... |
OMIM:257300 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Postaxial hand po... |
OMIM:610829 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte... |
OMIM:619135 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Reduced circulating prolactin concentration, Increased blood urea nitrogen |
OMIM:223360 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... |
ORPHA:2994 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Microcephaly |
ORPHA:290 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... |
OMIM:252100 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Short stature |
OMIM:619995 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly |
OMIM:602361 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Ectopic posterior pituitary, Unilateral renal agenesis, Conjugated hyp... |
OMIM:620305 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Ataxia, Inability to walk, Lateral ventricle dilatation, Ga... |
ORPHA:2822 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Hydrocephalus, Urethral stenosis, Growth dela... |
ORPHA:261290 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on ... |
ORPHA:220497 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Microcephaly, Sh... |
OMIM:619148 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Short stature, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Macroce... |
ORPHA:3447 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Say Syndrome |
|
Short stature, Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Postnatal growth retardation, Hydroureter, Vesicoureteral reflux, Nephrolithiasis |
OMIM:617219 |
| Arima Syndrome |
|
Dilated fourth ventricle, Proteinuria, Polyuria, Brainstem dysplasia, Ataxia, Stage 5 chronic kid... |
OMIM:243910 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Abnormality of the kidney, Hydrocephalus, Holoprosencephaly, Ventri... |
ORPHA:93274 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Posta... |
OMIM:264480 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
| Galloway-Mowat Syndrome |
|
Short stature, Proteinuria, Aqueductal stenosis, Nephropathy, Nephrotic syndrome, Intrauterine gr... |
ORPHA:2065 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, Clinodactyly of... |
OMIM:619721 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microcephaly, Spina bifida, Metaphyseal widening, Telangiectasia, Slende... |
OMIM:234100 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly |
OMIM:619092 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Hand polydactyly, ... |
ORPHA:250989 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Steppage gait, Inability to walk by childhood/adolescence |
ORPHA:99947 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... |
OMIM:612284 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Hydrocephalus, Gro... |
OMIM:614576 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
| Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, Microcephaly, 2-3 toe cutaneous syndactyly, Phthisis bulb... |
OMIM:300166 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... |
OMIM:607323 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Global brain atrophy, Microcephaly |
OMIM:308350 |
| Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
| Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... |
ORPHA:84 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car... |
ORPHA:175 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Ataxia, Brainstem dysplasia, Renal cyst, Occipital myelomeningo... |
OMIM:213300 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Short stature, Hypospadias |
ORPHA:2522 |
| Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce... |
ORPHA:2671 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Cavum septum... |
OMIM:617306 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:616920 |
| Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Gait disturbance,... |
ORPHA:588 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... |
ORPHA:163649 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:615191 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Short stature |
ORPHA:3409 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
| Temple Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Decreased response to growth hormone ... |
ORPHA:254516 |
| Stevenson-Carey Syndrome |
|
Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphth... |
OMIM:611961 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Renal cyst, Colpocephaly, A... |
OMIM:617260 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... |
OMIM:272440 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration |
OMIM:614859 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ur... |
ORPHA:206448 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Intrauterine growth retard... |
OMIM:225790 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc... |
ORPHA:314588 |
| Joubert Syndrome 37 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polyda... |
OMIM:619185 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... |
ORPHA:2712 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short ... |
OMIM:169400 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine... |
ORPHA:2655 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... |
OMIM:277170 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, C... |
ORPHA:397590 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... |
OMIM:617866 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Partial ag... |
OMIM:304050 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Verheij Syndrome |
|
Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Growth delay, Intrauterine growth re... |
OMIM:615583 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Unsteady gait, Ataxia |
ORPHA:457279 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Microcephaly, Radioulnar synostosis, Hypoplasia of the brainstem, Talipes equinov... |
OMIM:248700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia |
OMIM:220220 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis, Increased CSF lactate |
OMIM:618240 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:2183 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation... |
ORPHA:2308 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Dilatation of the renal pelvis, Ataxia, Gait ataxia |
OMIM:617120 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Baraitser-Winter Syndrome 1 |
|
Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Microphthalmia, Aortic valve steno... |
OMIM:243310 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, ... |
ORPHA:459061 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Bainbridge-Ropers Syndrome |
|
Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Inability to walk |
OMIM:615485 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Overlapping toe, Cerebral atrophy, Hip dysplasia, Hypoplasia of the... |
OMIM:618494 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Molar tooth sign on MRI, Nephropathy |
ORPHA:2318 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Urinary incontinence, Abnormal cerebrospinal fluid morphology, Atrophy/Degeneration affec... |
ORPHA:314404 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly, Microcephaly |
ORPHA:1942 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Colpocephaly, Vesicoureteral r... |
OMIM:618460 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... |
OMIM:603671 |
| Dextrocardia |
|
Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Hydrocephalus, Growth delay, Renal tubular dysfunction, Hyperbilirubinemia, Elevat... |
OMIM:614886 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis |
OMIM:617660 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology, Ethmoidal encepha... |
ORPHA:280195 |
| Aredyld Syndrome |
|
Intrauterine growth retardation, Abnormality of the ureter, Short stature |
ORPHA:1133 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Short stature, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Triploidy |
|
Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro... |
ORPHA:3376 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Microcephaly |
ORPHA:2728 |
| Multiple Sulfatase Deficiency |
|
Short stature, Ataxia, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration,... |
OMIM:272200 |
| Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... |
ORPHA:93929 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial... |
OMIM:100300 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism |
OMIM:612918 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... |
OMIM:206900 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Hydrocephalus, Choreoathetosis, Hypoplasia of the brainstem, Micr... |
OMIM:614969 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Dandy-Walker malformation, Cys... |
OMIM:220500 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:544488 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypoplasia |
OMIM:613792 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Ataxia, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Pulmonary ar... |
OMIM:616449 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, H... |
ORPHA:2461 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Bilateral fetal pyelectasis, Lateral ventricle dilatation, Abnormal... |
OMIM:300868 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:2181 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Postnatal growth retardation, Renal cyst, Hyperbilirub... |
ORPHA:79303 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Short stature |
OMIM:619745 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Renal cyst, Vesicoureteral ... |
ORPHA:261494 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hydrocephalus, Disproportionate short stature, Partial agenesis of the corpus callosum, Renal hyp... |
OMIM:210710 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Hypospadias, Meningocele, Abnormality of the ureter, Intrauterine growth retardati... |
ORPHA:2311 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Microphthalmia... |
OMIM:244300 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
| Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Spina bifi... |
ORPHA:322 |
| Warburg Micro Syndrome 3 |
|
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... |
OMIM:614222 |
| Oculo-Palato-Cerebral Syndrome |
|
Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Microphthalmia, ... |
ORPHA:2714 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Cerebellar hypopl... |
OMIM:612530 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tubular acidosis,... |
OMIM:614922 |
| 3C Syndrome |
|
Hypoplasia of penis, Short stature, Hypospadias, Postnatal growth retardation, Hydrocephalus, Dan... |
ORPHA:7 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcephaly, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
| Refsum Disease |
|
Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht... |
ORPHA:773 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Holoprosencephaly, Hypoplasia o... |
ORPHA:1587 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce... |
OMIM:219000 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature, Unilateral renal agenesis |
ORPHA:1064 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre... |
OMIM:616300 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Desbuquois Dysplasia 2 |
|
Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M... |
OMIM:615777 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Short stature, Vesicoureteral reflux |
OMIM:619869 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Abnormal brainstem morphology, Renal cyst, Birth length l... |
ORPHA:464311 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, I... |
OMIM:609029 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... |
OMIM:272950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla... |
OMIM:615287 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Macrocephaly, ... |
ORPHA:93400 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177907 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Dandy-Walker malformation, Vent... |
OMIM:304340 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease |
OMIM:619053 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... |
ORPHA:1788 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:568 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Ataxia |
OMIM:619725 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy |
ORPHA:2874 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Proteinuria, Ataxia, Olivopontocerebellar hypoplasia, Renal cyst, Dysme... |
OMIM:212065 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... |
OMIM:300963 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, Choreoathetosis, 3-Methylglutaco... |
ORPHA:445038 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Hypocalcemic seizures, Lateral ventricle dilatation |
OMIM:612301 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta |
ORPHA:2475 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th f... |
OMIM:620098 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Polycystic kidney dysplasia, Molar tooth... |
OMIM:616546 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Postnatal growth ... |
OMIM:147920 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... |
OMIM:243605 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Syringomyelia, Polydactyly, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:531151 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm |
ORPHA:73246 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... |
OMIM:600987 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the cor... |
OMIM:617822 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:146510 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Lateral ventricle dilatation, Intrauterine growth retardation... |
OMIM:300896 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum, Short palm, Microphthalmia |
OMIM:241410 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, ... |
OMIM:181270 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha... |
ORPHA:891 |
| Temple Syndrome |
|
Hypertriglyceridemia, Short stature, Hydrocephalus, Hypercholesterolemia, Intrauterine growth ret... |
OMIM:616222 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
| Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Hydrocephalus, Growth delay, Intrauterine growth retardation, Micropenis, Ventric... |
OMIM:300514 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... |
ORPHA:435938 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Ventriculomegaly, Elevated circulating creatine kinase concentration, Decre... |
ORPHA:79323 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... |
OMIM:613150 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Ataxia, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculome... |
OMIM:619833 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance |
OMIM:613330 |
| Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617622 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Ataxia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Gait disturbance... |
ORPHA:395 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:615873 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Tenorio Syndrome |
|
Enuresis, Hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:616260 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... |
ORPHA:444072 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal renal tubule morpho... |
ORPHA:2720 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender... |
ORPHA:193 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Enlarged polycystic ovaries, Pituitary gon... |
ORPHA:91348 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Ataxia, Hydrocephalus... |
ORPHA:1454 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Ataxia, Ventriculomegaly |
OMIM:609180 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... |
ORPHA:1786 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus... |
ORPHA:3186 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai... |
ORPHA:915 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Hypoplasia of the pons, Hypoplasia of the brainstem, Intrauterine growt... |
OMIM:615574 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Hypert... |
OMIM:617729 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... |
OMIM:615636 |
| 47,Xyy Syndrome |
|
Hypospadias, Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morpholo... |
ORPHA:8 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Microcephaly |
ORPHA:2399 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningoce... |
ORPHA:567 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly |
OMIM:618087 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... |
OMIM:180849 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,... |
ORPHA:401973 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Tapered finger, Pulmonary arterial hypertension, Macrocephaly, Clinodactyly of the ... |
ORPHA:65286 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis, Renal cyst,... |
ORPHA:464306 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Hydrocephalus, Unilateral renal agenesis, Micropenis |
OMIM:619951 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Growth delay, Intrauterine growth ret... |
ORPHA:96170 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Conjugated hyperbilirubinemia, Renal cortical microcysts, Elevated circulating phyta... |
OMIM:614866 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio... |
OMIM:162200 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Hypoplasia of the bladder, Ventriculomegaly, Occipital encephalocele, R... |
OMIM:249000 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, U... |
ORPHA:2052 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... |
OMIM:192350 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrhythmia |
ORPHA:991 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Braddock-Carey Syndrome 1 |
|
Growth delay, Multicystic kidney dysplasia, Agenesis of corpus callosum |
OMIM:619980 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Alagille Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Delayed puberty, Intraut... |
ORPHA:52 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Weaver Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... |
OMIM:257850 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature |
ORPHA:2701 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hypoalbuminemia, Renal cyst |
OMIM:602579 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia, Growth delay, Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Pelvic kidney, Agenesis of corpus callosum, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul... |
ORPHA:1855 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb |
OMIM:618874 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Abnormality of the kidney, Unsteady gait, Polycystic kidney dysplasia, Vesicour... |
OMIM:606232 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Multicystic kidney dysplasia, Ventriculomegaly |
ORPHA:261197 |
| Oculodentodigital Dysplasia |
|
Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnormal cereb... |
OMIM:164200 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363958 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Galloway-Mowat Syndrome 1 |
|
Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem, ... |
OMIM:251300 |
| Griscelli Syndrome |
|
Encephalocele, Short stature, Ataxia, Hydrocephalus, Abnormal circulating lipid concentration |
ORPHA:381 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Odontochondrodysplasia 1 |
|
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Renal hypoplasia, Renal cyst, Microphallus, Atrophy/Degeneration affecting the bra... |
OMIM:618454 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microph... |
OMIM:603467 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Short stature, Polycystic kidney dysplasia |
OMIM:211890 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Lobar h... |
OMIM:614701 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe... |
ORPHA:254346 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb |
ORPHA:2250 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... |
OMIM:617667 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Hydrocephalus, Hyper... |
OMIM:101800 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... |
ORPHA:464 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... |
ORPHA:1005 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dil... |
ORPHA:2556 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Mac... |
ORPHA:1001 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre... |
ORPHA:2754 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... |
OMIM:615789 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr... |
ORPHA:18 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Growth delay, Gait disturbance, Intrauterine growth retardation, Hy... |
ORPHA:261349 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Choroid plexus cyst, S... |
OMIM:267010 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the... |
ORPHA:2166 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb, Bilateral sin... |
ORPHA:1236 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Relative macrocephaly |
OMIM:616489 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Glutaric aciduria, Chronic kidney disease, Athetosis, Subepe... |
ORPHA:25 |
| Charge Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aqueductal stenosis, Abnormal t... |
ORPHA:138 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Ataxia, Impaired renal concentrating ability, Stage 5 chronic kidney dis... |
OMIM:610188 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Short stature, Anterior pituitary hypoplasia, Conjugated hyperbi... |
OMIM:619534 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... |
OMIM:600145 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... |
ORPHA:2920 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Short stature, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Short stature, Hypospadias, Hydrocephalus, Hype... |
OMIM:617053 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Intrauterine... |
ORPHA:314585 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
| B4Galt1-Cdg |
|
Hydrocephalus, Decreased LDL cholesterol concentration, Elevated circulating creatine kinase conc... |
ORPHA:79332 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Macu... |
OMIM:300960 |
| Vici Syndrome |
|
Short stature, Hypoplasia of the pons, Ureteral atresia, Renal tubular acidosis, Agenesis of corp... |
ORPHA:1493 |
| Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Nephropathy, Abnormal circulating C-peptide c... |
ORPHA:552 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:66629 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Simplified gyral pattern, Microcephaly |
OMIM:152950 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta... |
OMIM:619562 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
| Baller-Gerold Syndrome |
|
Short stature, Abnormality of the ureter, Abnormal localization of kidney, Growth delay, Vesicour... |
ORPHA:1225 |
| Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphtha... |
OMIM:615663 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Ataxia |
ORPHA:1861 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Brachydactyly |
ORPHA:2145 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum |
ORPHA:1791 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim... |
ORPHA:96334 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature, Hypocalcemia |
ORPHA:53 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Lethal short-limbed short stature, Abnormality of the kidney, Ventriculomegaly |
ORPHA:1860 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... |
OMIM:236670 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Short stature, Hypospadias, Ataxia, Inability to walk, Horseshoe kidney, Colpocephaly, Congenital... |
OMIM:620083 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Hydrocephalus, Hypocalcemia, Difficulty walking, Dandy-Walker malformation, Agenesis of c... |
OMIM:618476 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Difficulty walkin... |
ORPHA:268810 |
| Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Unsteady gait, Multiple renal cysts, Reduced ... |
OMIM:618733 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Short stature, Functional abnormality of the bladder, Enuresis ... |
ORPHA:223 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Inability to walk, Hydroce... |
ORPHA:2356 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Dandy-Walker malformation, Agen... |
ORPHA:2059 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... |
OMIM:608022 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile aci... |
OMIM:619377 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Hydrocephalus, Hypoplasia of the pons |
OMIM:620157 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Cerebellar hypoplasia, Sho... |
OMIM:217980 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Hypospadias, Short stature, Hydrocephalus, Small pituitary gland, Ventriculomegaly |
ORPHA:93932 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... |
ORPHA:3255 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
| Atelis Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Supravalvar pulmonary stenosis, Vitreous hemorrhag... |
OMIM:620185 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... |
OMIM:600901 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... |
ORPHA:261265 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia, A... |
OMIM:614230 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,... |
OMIM:616258 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hip dysplasia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:494344 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Growth delay, Hydronephrosis |
OMIM:222300 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia, Ventriculomegaly |
OMIM:617563 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Proportionate short stature, Elevated circulating... |
ORPHA:488618 |
| Cystic Echinococcosis |
|
Eosinophilia, Renal cyst, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts |
ORPHA:400 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome, Short stature |
ORPHA:110 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Lowry-Maclean Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Hypospadias |
ORPHA:2409 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Short stature, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Ventricu... |
ORPHA:96169 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Ataxia... |
ORPHA:79282 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria, Short stature |
ORPHA:585 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Kbg Syndrome |
|
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydro... |
OMIM:311200 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, S... |
ORPHA:1323 |
| Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc... |
ORPHA:158687 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... |
ORPHA:468631 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Rhizomelia, Short stature, Ataxia, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:266920 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... |
ORPHA:783 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Short stature, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
OMIM:613686 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Biparietal narrowing, Microcephaly |
ORPHA:1915 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Noncom... |
ORPHA:805 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mi... |
OMIM:214800 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... |
OMIM:208540 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:612379 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on MRI, Agenesis of corp... |
ORPHA:220493 |
| Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar crease, Polydactyly, Lisse... |
OMIM:247200 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Halperin-Birk Syndrome |
|
Inability to walk, Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Ve... |
OMIM:618651 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Hypospadias |
OMIM:601499 |
| Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan ... |
OMIM:309900 |
| H Syndrome |
|
Hypertriglyceridemia, Short stature, Abnormality of the kidney, Hydrocephalus, Delayed puberty, M... |
ORPHA:168569 |
| Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypochol... |
OMIM:270400 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... |
OMIM:614527 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Proportionate short stature, Unilateral renal agenesis, Bilateral renal dysplasia, Dysplastic cor... |
ORPHA:500150 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... |
OMIM:227650 |
| Pentalogy Of Cantrell |
|
Encephalocele, Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly, Renal dysplasia |
ORPHA:1335 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum |
ORPHA:268249 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| Desmosterolosis |
|
Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Hydrocephalus, Growth delay, Intr... |
ORPHA:35107 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Harrod Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
| Japanese Encephalitis |
|
Hyponatremia, Increased CSF protein concentration, Abnormal substantia nigra morphology, Abnormal... |
ORPHA:79139 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Lissenceph... |
ORPHA:2510 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Severe postnatal growth retardat... |
ORPHA:2237 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/apl... |
ORPHA:306542 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Abnormality of the urinary system |
ORPHA:2184 |
| Hypoplasminogenemia |
|
Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Dandy-Walker malformation |
ORPHA:722 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr... |
OMIM:617527 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Telangiectasia, Corneal neovascularization, Microcephaly |
OMIM:278730 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... |
OMIM:305400 |
| Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Thin corpus... |
OMIM:619480 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... |
ORPHA:54595 |
| Myhre Syndrome |
|
Overlapping toe, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-shaped epiphysis... |
OMIM:139210 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctional ectopic tachy... |
OMIM:309801 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... |
ORPHA:1297 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Urinary incontinence, Hydrocephalus, Disproportionate short sta... |
OMIM:616482 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| D-Bifunctional Protein Deficiency |
|
Ventriculomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:261515 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Hypospadias, Hypoplasia of the pons, Renal cyst, Vesicoureteral reflux, Intrauteri... |
OMIM:616975 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Macrocepha... |
OMIM:614099 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M... |
ORPHA:1517 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Macroce... |
OMIM:601812 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Decreased response to growth hormone stimulation test, Ataxia, ... |
ORPHA:699 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter |
ORPHA:1571 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... |
ORPHA:2211 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias, Pineal cyst |
OMIM:617516 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... |
OMIM:619895 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Kenny-Caffey Syndrome, Type 2 |
|
Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex of long bones, Abnorm... |
OMIM:127000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of... |
OMIM:151050 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... |
ORPHA:217346 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia |
OMIM:619320 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum, Hydron... |
ORPHA:1780 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe |
OMIM:618571 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Overlapping fingers |
OMIM:618316 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Polycystic kidney dyspla... |
OMIM:214110 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Partial agenesis of the corpus callosum, Elevated circulating creatinine con... |
OMIM:617478 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Short stature, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Heparan sulfate excretion in u... |
OMIM:253220 |
| Jacobsen Syndrome |
|
Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Macrocephaly, Clinodactyly of... |
OMIM:147791 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c... |
ORPHA:141099 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... |
OMIM:113620 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... |
ORPHA:404448 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal cerebrospin... |
ORPHA:68 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Ectopic kidney, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Agenesis ... |
OMIM:607872 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... |
OMIM:620113 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Hydrocephalus, Vesicovagin... |
OMIM:258040 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Intrauterine growth retardation,... |
OMIM:269860 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Hydrocephalus, Nephrotic synd... |
ORPHA:505248 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... |
ORPHA:573278 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Hip dislocation, Umbi... |
OMIM:613884 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin... |
ORPHA:314679 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg... |
ORPHA:369837 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth... |
ORPHA:1052 |
| Raine Syndrome |
|
Hydroureter, Short stature, Hydrocephalus, Hypophosphatemia, Hydronephrosis |
OMIM:259775 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Short stature, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts,... |
OMIM:208500 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... |
OMIM:123450 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Growth delay, Intrauterine growth ret... |
OMIM:614083 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly |
ORPHA:178303 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Ataxia, Conjugated hyperbilirubinemia, Postnatal grow... |
ORPHA:168577 |
| Noonan Syndrome 9 |
|
Hydroureter, Short stature |
OMIM:616559 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus, Abnormal renal morphology |
OMIM:239300 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypercholesterolemia, Hypopituitarism |
ORPHA:90065 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... |
ORPHA:2612 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| 7Q11.23 Microduplication Syndrome |
|
Short stature, Hypospadias, Unilateral renal agenesis, Hydrocephalus, Unsteady gait, Dysmetria, G... |
ORPHA:96121 |
| Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... |
OMIM:613451 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi... |
OMIM:305450 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hydrocephalus, Agenesis of corpus cal... |
ORPHA:457284 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
ORPHA:364577 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Hydrocephalus, Renal hypoplasia, Azotemia, Intrauterine growth retardation, Microp... |
OMIM:619321 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus, Renal agenesis, Hypospadias |
OMIM:313850 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance |
ORPHA:475 |
| Monosomy 18Q |
|
Short stature, Hydrocephalus, Growth delay, Choreoathetosis, Micropenis, Secondary growth hormone... |
ORPHA:1600 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... |
OMIM:174300 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Short stature, Hydronephrosis, Hypospadias |
ORPHA:912 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... |
OMIM:227645 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short stature |
OMIM:618367 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Short stature, Hypospadias, Ataxia, Urolithiasis, Hyperuricosuria, Hyperuric... |
OMIM:300661 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t... |
OMIM:609049 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Ovarian cyst, Enlarged ... |
OMIM:618188 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Codas Syndrome |
|
Hydroureter, Short stature |
ORPHA:1458 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Pancreatic cysts, Renal cyst, Polycystic kidney dyspla... |
OMIM:610199 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Alexander Disease |
|
Ataxia, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum |
ORPHA:58 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, ... |
ORPHA:314621 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Intraventricular hemorrhage, Cerebral atrophy |
OMIM:616430 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ... |
OMIM:309800 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly |
OMIM:602531 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Multicystic kidney dysplasia, Short stature, Hydronephrosis |
ORPHA:85201 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... |
OMIM:300895 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Hypospadias, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronep... |
ORPHA:163979 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:610828 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous... |
OMIM:620029 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicouretera... |
OMIM:122470 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... |
OMIM:619512 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
| Immunodeficiency 96 |
|
Growth delay, Multicystic kidney dysplasia |
OMIM:619774 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature |
OMIM:187600 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Alveolar Echinococcosis |
|
Ataxia, Eosinophilia, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepatic cysts |
ORPHA:284 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Basal ganglia calcification, Microcephaly |
OMIM:610651 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Broad-based gait, Short stature, Urinary incontinence, Hypospadias,... |
ORPHA:261537 |
| Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele, Short stature, Neurogenic bladder |
OMIM:130720 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Epispadias, Partial agenesis of the corpus callosum, Molar tooth sign o... |
ORPHA:434179 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... |
ORPHA:538 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Schinzel-Giedion Syndrome |
|
Hypospadias, Abnormality of the ureter, Choroid plexus cyst, Renal cyst, Micropenis, Nephrolithia... |
ORPHA:798 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Ren... |
ORPHA:3015 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Subependymal nodules |
OMIM:191100 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Unilateral renal agenesis |
OMIM:154400 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Rhizomelia, Short stature, Hypospadias, Renal ... |
ORPHA:818 |
| Hurler Syndrome |
|
Short stature, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excretion in u... |
OMIM:607014 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S... |
OMIM:300968 |
| Meningioma |
|
Enlarged pituitary gland, Ataxia, Urinary incontinence, Reduced circulating prolactin concentrati... |
ORPHA:2495 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Hallermann-Streiff Syndrome |
|
Microcephaly, Congestive heart failure, Small hand, Short foot, Cerebellar hypoplasia, Clinodacty... |
ORPHA:2108 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum... |
OMIM:616734 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
| Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocephaly, Congenital ps... |
ORPHA:2563 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidney dysplasia, I... |
OMIM:200980 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Hypospadias, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers... |
OMIM:611174 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria, Umbilical hernia |
OMIM:614520 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Subependymal... |
OMIM:613254 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Short stature, Hypoammonemia, Proteinuria, Pro... |
ORPHA:534 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P... |
OMIM:619297 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Desmosterolosis |
|
Ventriculomegaly, Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Abnormal ci... |
OMIM:602398 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
| Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
| Dubowitz Syndrome |
|
Short stature, Hypospadias, Postnatal growth retardation, Hydrocephalus, Intrauterine growth reta... |
ORPHA:235 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Hypospadias, Hypoplasia of the pons, Renal cyst, Dandy-Walker malformation |
ORPHA:495875 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Broad-based gait, Short stature, Urinary incontinence, Hypospadias,... |
ORPHA:261552 |
| Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... |
OMIM:277900 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... |
ORPHA:616 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:3309 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Rhizomelia, Short stature, Hypospadias, Renal... |
ORPHA:709 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts |
ORPHA:1190 |
| Schwartz-Jampel Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Abnormality of the ureter, Nep... |
ORPHA:800 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Horseshoe kidney, Enlarged ... |
OMIM:306955 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... |
ORPHA:91350 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Short stature, Hydrocephalus, Partial agenesis of the corpus callos... |
OMIM:300373 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Normal pressure hydrocephalus, Mildly elevated creatine kinase |
OMIM:620351 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Glandu... |
ORPHA:2473 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Agenesis of corpus callosum, Hydro... |
OMIM:229850 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Abnormal renal morphology |
OMIM:207410 |
| Peutz-Jeghers Syndrome |
|
Ovarian cyst, Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Hydrocephalus, Hypoplasia of the pons |
OMIM:620155 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Hydronephrosis |
OMIM:610733 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Short stature, Hydronephrosis |
OMIM:115150 |
| Cockayne Syndrome B |
|
Microcephaly, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Cerebral... |
OMIM:133540 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Short stature, Spina bifida occulta, Vesicoureteral reflu... |
OMIM:300707 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Short stature, Hydronephrosis |
ORPHA:1340 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts, Ventriculomegaly |
OMIM:618548 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Hypocalcemia |
OMIM:259700 |
| Choreoacanthocytosis |
|
Loss of ambulation, Lateral ventricle dilatation, Falls, Elevated circulating creatine kinase con... |
ORPHA:2388 |
| Whipple Disease |
|
Hyponatremia, Hydrocephalus, Ataxia |
ORPHA:3452 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Mucopolysacchariduria, Short stature |
ORPHA:579 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Aplasia/Hypopla... |
ORPHA:50 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries |
ORPHA:2969 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ... |
ORPHA:672 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Choreoathetosis... |
OMIM:614080 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... |
OMIM:148050 |
| Dubowitz Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Hypoplasia of the iris, Clinodactyly o... |
OMIM:223370 |
| Hurler Syndrome |
|
Growth delay, Hydrocephalus, Mucopolysacchariduria, Short stature |
ORPHA:93473 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Aymé-Gripp Syndrome |
|
Short stature, Proteinuria, Postnatal growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Hydrocephalus, Growth delay, Hypocalcemia, Hyperbilirubinemia, Ventriculomegaly |
OMIM:259720 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Ataxia |
ORPHA:97339 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
OMIM:608670 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Telangiectasia, Microcephaly |
OMIM:601675 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Microcephaly, Tapered finger, Small hand, Pulmonary arterial hypertension, H... |
OMIM:620005 |
| Carpenter Syndrome 1 |
|
Spina bifida occulta, Hydroureter, Short stature, Hydronephrosis |
OMIM:201000 |
| Trisomy 8P |
|
Hydrocephalus, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Agenesis of corpus callosum, Hydr... |
ORPHA:264450 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinova... |
OMIM:268400 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature |
ORPHA:1865 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the kidney, Renal cyst, Gait dist... |
ORPHA:1606 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short ... |
OMIM:616894 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Waddling gait, Inability to walk |
ORPHA:457212 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Monosomy 9P |
|
Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda... |
ORPHA:261112 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Floating-Harbor Syndrome |
|
Broad-based gait, Hypospadias, Short stature, Renal agenesis, Dilatation of the renal pelvis, Sta... |
ORPHA:2044 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Dysplastic corpus callosum, Colpocephaly, Chordee, Holoprosencephaly, Micropenis, Ag... |
OMIM:618820 |
| Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Hypocalcemia |
ORPHA:2306 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,... |
OMIM:620025 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Ectrodactyly, Agenes... |
OMIM:615465 |
| Mucopolysaccharidosis Type 3 |
|
Ataxia, Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, M... |
ORPHA:581 |
| Cockayne Syndrome A |
|
Renal insufficiency, Short stature, Proteinuria, Ataxia, Severe postnatal growth retardation, Nor... |
OMIM:216400 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, M... |
OMIM:107480 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature, Ataxia |
ORPHA:220295 |
| Peroxisome Biogenesis Disorder 4B |
|
Gait disturbance, Ataxia, Ureterocele |
OMIM:614863 |
| Achondroplasia |
|
Brain stem compression, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Enlarged ... |
ORPHA:95699 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Cerebral a... |
ORPHA:17 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Trisomy 10P |
|
Abnormality of the kidney, Growth delay, Multiple renal cysts, Intrauterine growth retardation, D... |
ORPHA:171929 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproportionate short... |
ORPHA:93271 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia |
ORPHA:65285 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Cortical dysplasia, Intracranial hemorrhage, Short palm, Clinodactyl... |
OMIM:613406 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Eosinophilia, CSF pleocytosis, Hydrocephalus, Abn... |
ORPHA:228123 |
| Hajdu-Cheney Syndrome |
|
Short stature, Hypospadias, Hydrocephalus, Multiple renal cysts, Delayed puberty |
ORPHA:955 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia |
OMIM:601552 |
| Distal Deletion 12Q |
|
Short stature, Ectopic kidney, Pituitary adenoma, Growth delay, Polycystic kidney dysplasia, Vesi... |
ORPHA:96149 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Micropenis, Hydronephr... |
OMIM:269150 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Basal ganglia calcification, Bilateral microp... |
ORPHA:93325 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Short stature, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm... |
OMIM:616580 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Dilated fourth ventricle, Mola... |
OMIM:619306 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, Dysmetria, Gait ataxia, Colpocephaly |
ORPHA:75857 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Gaucher Disease |
|
Short stature, Proteinuria, Elevated circulating C-reactive protein concentration, Ataxia, Hydroc... |
ORPHA:355 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen... |
OMIM:236100 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Abnormal midb... |
ORPHA:293987 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
| Cat Eye Syndrome |
|
Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis |
OMIM:115470 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia |
OMIM:612291 |
| Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Nephrolithiasis... |
ORPHA:666 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... |
OMIM:164210 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... |
OMIM:253280 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Bloom Syndrome |
|
Syndactyly, Microcephaly, Hand polydactyly, Clinodactyly of the 5th finger, Facial telangiectasia... |
OMIM:210900 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Icf Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:2268 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Enlarged kidney |
OMIM:261740 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
| Mucopolysaccharidosis, Type Vi |
|
Short stature, Hydrocephalus, Disproportionate short-trunk short stature, Dermatan sulfate excret... |
OMIM:253200 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
| Okamoto Syndrome |
|
Tethered cord, Microcephaly, Abnormally large globe, Hip dysplasia, Syringomyelia, Polydactyly, H... |
ORPHA:2729 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... |
ORPHA:2658 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand... |
OMIM:615948 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Symphalangism affecting the phalanges o... |
ORPHA:2990 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly |
OMIM:612731 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... |
OMIM:612474 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... |
ORPHA:794 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Oliguria... |
ORPHA:731 |
| Degcags Syndrome |
|
Syndactyly, Tachycardia, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyly, Ge... |
OMIM:619488 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Abnormal ... |
ORPHA:1596 |
| Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... |
OMIM:176270 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage, Microcephaly |
OMIM:308300 |
| Carpenter Syndrome 2 |
|
Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre... |
OMIM:614976 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Short stature, Postnatal growth retardation, Growth delay, Hyperbiliru... |
OMIM:300855 |
| Cerebrocostomandibular Syndrome |
|
Postnatal growth retardation, Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:137667 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Microcephaly, Hypop... |
ORPHA:268261 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret... |
ORPHA:500095 |
| Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph... |
ORPHA:33364 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal digit morpholog... |
ORPHA:95494 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... |
ORPHA:42775 |
| Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Macrocephaly, Hypertension, Polydactyly, Meso... |
OMIM:613610 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Hydrocephalus, Renal agenesis |
OMIM:273395 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Gait ataxia, Difficulty walking, Micropenis, Ventriculomegaly |
ORPHA:457359 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hydrocephalus, Horseshoe kidney, Multiple re... |
ORPHA:3310 |
| Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Mild postnatal growth retardation, Hydroureter, Unilater... |
ORPHA:90324 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... |
OMIM:216340 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Hypospadias, Ataxia, Hydrocephalus, Hematuria, Tip-toe gait, Falls, Hyperbiliru... |
OMIM:619475 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Microcephaly, Hydrocephalus, P... |
OMIM:612289 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k... |
ORPHA:53035 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Ventriculomegaly |
OMIM:616202 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Macrocephaly... |
ORPHA:137605 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th fing... |
ORPHA:96182 |
| Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Syndromic Diarrhea |
|
Short stature, Renal hypoplasia, Polycystic kidney dysplasia, Abnormality of iron homeostasis, In... |
ORPHA:84064 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Renal neoplasm, Hydrocephalus |
ORPHA:536467 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test... |
OMIM:619476 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr... |
ORPHA:353277 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Growth delay, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Enlarged kidney, Nephrocalcinosis, Vesicoureteral reflux, ... |
OMIM:130650 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Chordee, Hypospadias |
ORPHA:477993 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Hydrocephalus |
OMIM:245600 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... |
OMIM:118450 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Hypospadias, Renal insufficienc... |
ORPHA:199 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... |
OMIM:129900 |
| Cutis Marmorata Telangiectatica Congenita |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Semilobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:220386 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... |
ORPHA:96123 |
| Alobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93924 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Short stature, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morp... |
ORPHA:363700 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin... |
OMIM:175780 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Disproportionate short-trunk short stature, Renal cyst |
OMIM:272460 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Unilateral renal agenesis |
ORPHA:261337 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Rhizomelia |
OMIM:618162 |
| Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... |
OMIM:604292 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli... |
ORPHA:1708 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
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 |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... |
ORPHA:352665 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Rhizomelia, Hypospadias, Postnatal growth retardation, Hydrocephalus, Renal... |
OMIM:261540 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callos... |
OMIM:312870 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Short stature, Decreased response to gr... |
ORPHA:3455 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Unsteady gait, Brain stem compression |
ORPHA:637 |
| Renpenning Syndrome 1 |
|
Microcephaly, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Sy... |
OMIM:309500 |
| Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Sho... |
OMIM:619841 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... |
ORPHA:116 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Polycystic kidney dysplasia, Abnormality of the kidney, Hyperbilir... |
ORPHA:480520 |
| Cockayne Syndrome |
|
Cerebral calcification, Cerebral dysmyelination, Basal ganglia calcification, Retinal hemorrhage,... |
ORPHA:191 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis, Disproportionate short-limb sho... |
OMIM:619194 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Hypospadias, Hydrocephalus, Growth delay, Severe postnatal growth retardation, Int... |
OMIM:194190 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Cerebellar vermis hypoplasia, Postaxi... |
ORPHA:480880 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Short stature |
OMIM:610759 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Pulmonary arterial hypertension, M... |
OMIM:620186 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Ataxia, Oligosacchariduria |
ORPHA:309282 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Gr... |
OMIM:304150 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Short stature, Unilateral renal agenesis, Renal agenes... |
OMIM:308205 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Microcephaly, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Marshall-Smith Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:602535 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... |
OMIM:309000 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Costello Syndrome |
|
Renal insufficiency, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218040 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Hydrocephalus, Limb ataxia, Growth delay, Delayed puberty, Ventriculomegaly |
ORPHA:2072 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
| Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
| Neurofibromatosis Type 1 |
|
Ataxia, Short stature, Abnormality of the upper urinary tract, Hydrocephalus, Delayed puberty |
ORPHA:636 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Short stature, Hypospadias, Ectopic kidney, Postnatal growth retardation, Partial ag... |
OMIM:135900 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly |
ORPHA:769 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta... |
OMIM:610168 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Mullegama-Klein-Martinez Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Microcephaly |
OMIM:301022 |
| Frontometaphyseal Dysplasia |
|
Urethral stenosis, Growth delay, Hydronephrosis, Spina bifida occulta, Ureteral obstruction |
ORPHA:1826 |
| Holoprosencephaly 2 |
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Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,... |
OMIM:157170 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Rhizomelia, Ureteral hypoplasia, Hepatic cysts, Abnormal renal artery ... |
ORPHA:79328 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Short stature, Hypospadias, Hydrocephalus, Long penis, Truncal ataxia, Intr... |
OMIM:264090 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Short stature... |
OMIM:301068 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Colpocephaly, Micropenis, Agenesis of corpus callosum, Hydronephrosis |
OMIM:606170 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Choroid plexus cyst, Dilatation of the renal pelvis, Dilatation of the ... |
OMIM:265380 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Early Infantile Epileptic Encephalopathy |
|
Choreoathetosis, Ureterocele, Episodic ataxia, Micropenis, Renal dysplasia |
ORPHA:1934 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:2462 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Broad-based gait, Short stature, Urinary incontinence, Hypospadias,... |
ORPHA:2152 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
| Femoral-Facial Syndrome |
|
Renal agenesis, Short stature, Abnormal renal collecting system morphology, Polycystic kidney dys... |
OMIM:134780 |
| Coffin-Siris Syndrome 12 |
|
Microcephaly, Short thumb, Slender finger, Noncommunicating hydrocephalus, Heart murmur, Cutaneou... |
OMIM:619325 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Short stature, Gait disturbance |
ORPHA:3042 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... |
ORPHA:79500 |
| C Syndrome |
|
Multicystic kidney dysplasia, Short stature, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratos... |
ORPHA:2907 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
| Chand Syndrome |
|
Hydroureter, Ataxia |
ORPHA:1401 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Sudden cardiac death, Metatarsus valgus, Pulmonar... |
ORPHA:744 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Postnatal growth retardation, Renal hypoplasia, Birth length less than... |
ORPHA:3404 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Abnormality of the kidney, Hydrocephalus, Severe intrauterin... |
OMIM:218600 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrhythmia, Brach... |
ORPHA:1519 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Microcephaly, Long fingers, Cut... |
OMIM:620330 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
| Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Intrauterine growth retardation, Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2273 |
| Pallister-Killian Syndrome |
|
Hypospadias, Rhizomelia, Mesomelic/rhizomelic limb shortening, Inability to walk, Renal cyst, Gro... |
OMIM:601803 |
| Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:208150 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Aplasia/Hypoplasia of the c... |
ORPHA:649 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intrauterine growth retardation, Ureteral duplication, Anterior pituitary agenesis |
ORPHA:2255 |
| Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma |
ORPHA:1071 |
| Mucopolysaccharidosis Type 2 |
|
Growth delay, Short stature, Communicating hydrocephalus |
ORPHA:580 |
| Hennekam Syndrome |
|
Finger syndactyly, Pachygyria, Camptodactyly of finger |
ORPHA:2136 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intrauterine growth retardation, Ureteral duplication, Glycosuria |
OMIM:600001 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
| Pmm2-Cdg |
|
Proteinuria, Ataxia, Elevated circulating growth hormone concentration, Reduced thyroxin-binding ... |
ORPHA:79318 |
| Restrictive Dermopathy 1 |
|
Intrauterine growth retardation, Ureteral duplication, Hypospadias |
OMIM:275210 |
| Restrictive Dermopathy |
|
Intrauterine growth retardation, Ureteral duplication, Hypospadias |
ORPHA:1662 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
