| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly |
OMIM:233270 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... |
OMIM:615938 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... |
ORPHA:64754 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... |
OMIM:613885 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... |
OMIM:616570 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... |
OMIM:164180 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... |
OMIM:211960 |
| Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Renal agenesis, Ectopic kidney, Ho... |
OMIM:602200 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... |
ORPHA:139471 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... |
ORPHA:3265 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
| Pineocytoma |
|
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration |
ORPHA:251912 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Inability to walk, Lateral ventricle dilatation, Ataxia, Abnormality of medulla... |
ORPHA:79243 |
| Cach Syndrome |
|
Lateral ventricle dilatation, Truncal ataxia, Limb ataxia, Atrophy/Degeneration affecting the bra... |
ORPHA:135 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... |
ORPHA:380 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Elongated superior cerebellar peduncle, St... |
OMIM:608629 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| 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 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... |
OMIM:603194 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| 15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... |
OMIM:611134 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... |
OMIM:218670 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... |
OMIM:615665 |
| Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... |
OMIM:611561 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microphthalmia, Microcephaly |
ORPHA:291 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius |
ORPHA:2476 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Short stature, Lateral ventricle dilatation |
OMIM:618330 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Colpocephaly |
OMIM:614870 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Deviation of finger, Anophthalmia |
ORPHA:1104 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly, Ataxia |
OMIM:618709 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... |
OMIM:603546 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... |
OMIM:602501 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... |
ORPHA:2839 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... |
ORPHA:166024 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Abnormal upper motor neuron morphology, Gait disturbance, Lateral ventricle... |
OMIM:221770 |
| Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia |
OMIM:606744 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Hydrolethalus |
|
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... |
ORPHA:2189 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Bardet-Biedl Syndrome 16 |
|
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal... |
OMIM:615993 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... |
OMIM:182230 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the ventral pons, Lateral ventricle dilatation, Degeneration of anterior horn cells... |
OMIM:607596 |
| Lissencephaly 8 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... |
OMIM:617255 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... |
OMIM:613155 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... |
ORPHA:1327 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Renal cyst, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... |
ORPHA:2437 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum |
OMIM:604213 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microphthalmia, Microcephaly |
ORPHA:3469 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Gait imbalance, Ventriculomegaly, Lateral ventricle dilatation, Nep... |
ORPHA:488627 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... |
ORPHA:1553 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Inability to walk, Lateral ventricle dilatation |
OMIM:613443 |
| Masa Syndrome |
|
Shuffling gait, Ventriculomegaly, Short stature, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... |
ORPHA:2117 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
| Slc35A2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Inability to walk, Lateral ventri... |
ORPHA:356961 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Dilated fourth ventricle, Lateral ventricle dilatation, Severe postnatal g... |
ORPHA:3078 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation |
OMIM:618266 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Difficulty walking, Lateral ventricle dilatation |
ORPHA:306669 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth |
ORPHA:324416 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... |
OMIM:136760 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... |
ORPHA:1120 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Lateral ventricle dilatation |
OMIM:615889 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Lateral ventricle dilatation, Hypospadias,... |
OMIM:617751 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Martsolf Syndrome 2 |
|
Short stature, Lateral ventricle dilatation |
OMIM:619420 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation |
ORPHA:77299 |
| Microphthalmia, Syndromic 8 |
|
Split foot, Microphthalmia, Microcephaly |
OMIM:601349 |
| Lissencephaly 4 |
|
Short stature, Growth delay, Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Abnormal renal medulla morpholog... |
OMIM:609583 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia, Microcephaly |
OMIM:619981 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Abnormal brainstem morphology, Hypoplasia of the pons, Lateral ventr... |
ORPHA:300573 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Hyperalaninemia, Lateral ventricle dilatation |
OMIM:301025 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disea... |
OMIM:611560 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus |
ORPHA:250994 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Hyperalaninemia, Increased serum pyruvate, Lateral ventricle dilatation |
OMIM:617668 |
| Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... |
ORPHA:1466 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Short stature, Hydrocephalus, Ataxia |
ORPHA:1532 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele, Microcephaly |
ORPHA:63862 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Ketonuria, Choreoathetosis, Hydrocephalus, Elevated circulating glu... |
OMIM:231670 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Ventriculomegaly, Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... |
OMIM:300337 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat... |
OMIM:617056 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... |
ORPHA:1908 |
| Joubert Syndrome 20 |
|
Renal cyst, Molar tooth sign on MRI, Inability to walk |
OMIM:614970 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hydrocephalu... |
OMIM:615862 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Anencephaly, Renal cyst, Hypospadias, Occipita... |
OMIM:614175 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Arrhinencephaly, Renal cyst, Horseshoe kidney, Occipital encephalocele, ... |
OMIM:614815 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Inability to walk, Lateral ventricle dilatation |
OMIM:615716 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... |
OMIM:300863 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, D-2-hydroxyglutaric aciduria, Glutaric aciduria, Lateral ventricle dilatation |
OMIM:600721 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric ... |
OMIM:614105 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Renal... |
ORPHA:397715 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia |
ORPHA:411986 |
| Fountain Syndrome |
|
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ... |
OMIM:618736 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Inability to walk, Lateral ventricle dilatation, Ataxia, Pontocerebellar atrophy, Broad-based gait |
OMIM:617854 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Molar tooth sign on MRI, Stage 5 chronic kidn... |
OMIM:619113 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... |
OMIM:600118 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hyperglycinemia, Hyposerinemia, Lateral ventricle dilatation, Intrauterine growth retardation |
ORPHA:284417 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... |
OMIM:619091 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Gait imbalance, Abnormal lateral ventricle morphology, Growth delay, Intrauterine gr... |
ORPHA:488635 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly |
OMIM:147250 |
| Curry-Jones Syndrome |
|
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... |
OMIM:601707 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Gait ataxia, Inability to walk, Lateral ventricle dilatation, Hypoplasia of the pons, Dandy-Walke... |
OMIM:618606 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Lateral ventricle dilatation, Subependymal cysts, Hyperammonemia, Decreased CSF... |
OMIM:610015 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia |
ORPHA:3032 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Scissor gait, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... |
OMIM:600325 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia |
ORPHA:261272 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... |
OMIM:251270 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand |
DECIPHER:46 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... |
OMIM:616038 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Distal Monosomy 10Q |
|
Vesicoureteral reflux, Lateral ventricle dilatation, Short stature, Acute kidney injury, Ataxia, ... |
ORPHA:96148 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... |
OMIM:607361 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... |
OMIM:207950 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Cog5-Cdg |
|
Urinary incontinence, Lateral ventricle dilatation, Neurogenic bladder, Truncal ataxia, Short sta... |
ORPHA:263487 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum |
ORPHA:63260 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
| Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... |
OMIM:175700 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... |
OMIM:610688 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Hypoplasia of the brainstem, Renal dysplasia, Multinucleated neuron, Renal cys... |
OMIM:236500 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... |
OMIM:615181 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... |
ORPHA:3378 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... |
OMIM:603387 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... |
OMIM:300049 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Pierpont Syndrome |
|
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... |
ORPHA:487825 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation |
OMIM:274265 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Ventriculomegaly |
OMIM:613730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... |
OMIM:613153 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:617397 |
| Fried Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:85335 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Growth delay, Lateral ventricle dilatation |
ORPHA:208447 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating thyroid-stimulating hormone concentration, El... |
OMIM:617872 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Pettigrew Syndrome |
|
Gait ataxia, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... |
ORPHA:3210 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Gait disturbance |
ORPHA:3270 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... |
OMIM:157900 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Hyperalaninemia, Micropenis, Lateral ventricle dilatation |
OMIM:619847 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
