| Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Gombo Syndrome |
|
Microphthalmia, Delayed puberty, Microcephaly |
OMIM:233270 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... |
OMIM:617967 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Frontal encephalocele, Ce... |
ORPHA:1528 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Microcephaly, Brachycephaly, Growth delay, Microphthalmia |
ORPHA:2528 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Short stature, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, M... |
OMIM:616171 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Hypermobility of toe joints, Abnorma... |
ORPHA:488635 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:614019 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Cerebellar hypoplasia, Microphth... |
OMIM:218670 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Patent ductus arteriosus, Umbilical hernia |
OMIM:615297 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology |
ORPHA:2432 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... |
OMIM:618291 |
| Cofs Syndrome |
|
Short stature, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Intrauterine g... |
ORPHA:1466 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Intrauterine growth... |
ORPHA:228390 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Microcephaly |
ORPHA:291 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Rocker bottom foot, Lateral ventricle dilatation, Talipes equinovarus, Cerebellar hypoplasia, Ove... |
OMIM:618266 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... |
ORPHA:1908 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Stillbirth, Multinucle... |
OMIM:236500 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Abnormal left ventricular function, Cardiomyopathy, C... |
OMIM:613155 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Retrocerebellar cyst, Cerebellar hypoplasia, Microphthalmia |
OMIM:617255 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:616034 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Ventriculomegaly |
OMIM:602501 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Central Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:178029 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Cerebellar vermis hypoplasia, Primary microcephaly |
OMIM:615771 |
| Pierpont Syndrome |
|
Short stature, Microcephaly, Brachycephaly, Chiari malformation, Microphthalmia, Midface retrusion |
OMIM:602342 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Cerebellar malformation |
ORPHA:324416 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| 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 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatatio... |
OMIM:614219 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Seckel Syndrome 2 |
|
Short stature, Microcephaly, Heart murmur, Growth delay, Cerebellar hypoplasia, Microphthalmia |
OMIM:606744 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Pari... |
OMIM:616602 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia, Microcephaly |
OMIM:278780 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Chiari malformation, Foot pol... |
ORPHA:60040 |
| Pierpont Syndrome |
|
Microphthalmia, Chiari malformation, Brachycephaly, Primary microcephaly |
ORPHA:487825 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly |
OMIM:614870 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia, Microcephaly |
OMIM:274270 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Craniosynostosis, Intrauterine growth retardation |
ORPHA:2117 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Postaxial hand polydactyl... |
OMIM:611134 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| 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 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation, Ascites, Microcephaly |
ORPHA:858 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Microph... |
OMIM:613885 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Cerebellar hypoplasia, Colpocephaly, Talipes equinovarus |
ORPHA:401815 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... |
ORPHA:397715 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Plagiocephaly, Growth delay, Neonatal death, Microphthalmia... |
ORPHA:85284 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydroceph... |
ORPHA:59315 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:600118 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... |
ORPHA:1788 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature, Cerebellar hypoplasia, Microcephaly |
OMIM:251270 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Mic... |
OMIM:613451 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydact... |
ORPHA:65759 |
| Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
| Mmep Syndrome |
|
Microphthalmia, Microcephaly |
ORPHA:3434 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Single transverse palmar crease, 2-3 toe syndactyly, Lateral ventricle ... |
OMIM:613443 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Frontal bossing, Patent ductus arteriosus, Polyhydramnios |
ORPHA:2547 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Degeneration of anterior horn cells, Hypoplasia of the ventral pons, Late... |
OMIM:607596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C... |
OMIM:613154 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation |
OMIM:164180 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios, Microcephaly |
ORPHA:3469 |
| Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Micr... |
OMIM:615181 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:300915 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Growth delay, Microcephaly |
OMIM:308350 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Brachydactyly |
OMIM:620156 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Tal... |
OMIM:617822 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia, Microphthalmia, Cer... |
OMIM:613153 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Rhizomelia, Platybasia, Microphthalmia |
ORPHA:93267 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia, Microcephaly |
OMIM:614082 |
| Trisomy 13 |
|
Anophthalmia, Patent ductus arteriosus, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Chiari m... |
ORPHA:3378 |
| Joubert Syndrome 22 |
|
Microphthalmia, Agenesis of cerebellar vermis, Intrauterine growth retardation |
OMIM:615665 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Intrauterine growth retardatio... |
OMIM:619833 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| 2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
| Congenital Rubella Syndrome |
|
Short stature, Microcephaly, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphtha... |
ORPHA:290 |
| Monosomy 18P |
|
Short stature, Lymphedema, Microcephaly, Brachycephaly, Hypertension, Microphthalmia |
ORPHA:1598 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... |
ORPHA:1647 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Brachydactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thum... |
OMIM:600325 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia |
OMIM:613730 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... |
OMIM:252100 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Short palm |
OMIM:300982 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Abnormal cerebellum morphology, Patent ductus arteriosus, Secondary micr... |
OMIM:618652 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Edema, Microcephaly, Congestive heart failure, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cerebellar hypoplasia, Intra... |
OMIM:616038 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Short stature, Rhizomelia, Cerebellar hypoplasia, Microphthalmia, Intrauterine g... |
ORPHA:163966 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
| Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Microphthalmia, Secondary microcephaly, Short stature |
OMIM:614583 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Lateral ventricle d... |
OMIM:617751 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Microcephaly, Postnatal growth retardation, Patent ductus arteriosus, Trigonocepha... |
OMIM:243310 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature, Pulmonary arterial hypertension, Microcephaly |
OMIM:300887 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Halperin-Birk Syndrome |
|
Hip dislocation, Colpocephaly, Talipes equinovarus, Umbilical hernia, Intrauterine growth retarda... |
OMIM:618651 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Patent ductus arteriosus, Brachycephaly, Chiari type I malformati... |
OMIM:218350 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:141333 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Syndactyly |
OMIM:220210 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Frontal bossing, Short stature, Edema, Microcephaly, Hypertension, Microphtha... |
OMIM:617729 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Mild sho... |
OMIM:614833 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Microcephaly |
ORPHA:77299 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Achondrogenesis, Type Ii |
|
Frontal bossing, Edema, Abnormally large globe, Polyhydramnios, Disproportionate short-trunk shor... |
OMIM:200610 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation, Intrauterine ... |
OMIM:603194 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Short stature, Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Microcephaly, Prominent occiput, Growth delay, Micr... |
OMIM:616920 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Microcephaly, Dehydration, Cerebellar hypoplasia, Microphthalmia |
OMIM:214150 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Partial agenesis of the corpus callosum, Cerebellar gliosis, Lat... |
ORPHA:79243 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Meningocele, Intracra... |
OMIM:614424 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Frontal bossing, Intrauterine growth retardation |
ORPHA:1438 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencepha... |
OMIM:614701 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Brachycephaly, Microphthalmia, Midface retrusion |
ORPHA:1791 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation, Microcephaly |
OMIM:610756 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Intra... |
OMIM:617914 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hydrocephalus, Intrauterine growth retardation, Clinodactyly, Ventriculomegaly |
ORPHA:2169 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Agenesis of corpus call... |
ORPHA:300573 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Short stature, Brachycephaly, Severe postnatal growth retardation, Secondary ... |
OMIM:615663 |
| Sandestig-Stefanova Syndrome |
|
Trigonocephaly, Microphthalmia, Intrauterine growth retardation, Primary microcephaly |
OMIM:618804 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Optic nerve hypoplasia, Bilateral microphthalmos, Brachyturricephaly, Ethmoidal ... |
OMIM:607597 |
| Temtamy Syndrome |
|
Microphthalmia, Dolichocephaly |
ORPHA:1777 |
| Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, 2-3 toe cutaneous ... |
ORPHA:96148 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformit... |
ORPHA:3078 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Midface retrusion |
ORPHA:1135 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microcephaly, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neo... |
ORPHA:891 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema, Microphthalmia, Flat occiput, Microcephaly |
OMIM:152950 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads, In... |
OMIM:612863 |
| Mosaic Trisomy 9 |
|
Spina bifida, Microcephaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Prominent ... |
ORPHA:99776 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Postnatal growth retardation, Microphthalmia, Intr... |
ORPHA:494344 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... |
OMIM:603671 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatation, Joint contra... |
OMIM:618914 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Joubert Syndrome 37 |
|
Microphthalmia, Frontal bossing, Cerebellar vermis hypoplasia, Short stature |
OMIM:619185 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short stature, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Umbilical hernia, Midface ... |
ORPHA:369891 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Bila... |
ORPHA:284417 |
| Fetal Alcohol Syndrome |
|
Short stature, Microcephaly, Biparietal narrowing, Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Frontal bossing, Short stature |
ORPHA:2788 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Hemiatrophy |
ORPHA:306669 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Hypoplasia of the pons, Clubbing, ... |
OMIM:618606 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia |
OMIM:618731 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Short finger |
OMIM:300049 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
| Hypomelanosis Of Ito |
|
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger |
OMIM:300337 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Microcephaly |
OMIM:619694 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Brachycephaly |
OMIM:612379 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus addu... |
ORPHA:356961 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Microcephaly, Patent ductus arteriosus, Anencephaly, Brachycephaly,... |
OMIM:619148 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Agenesis of corpus callosum, Colpocephaly, C... |
OMIM:609053 |
| Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Pulmonary arterial hypertension,... |
ORPHA:974 |
| Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Growth delay, Biparietal narrowing, Aplasia/Hy... |
ORPHA:2612 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Metatarsus adductus, Partial agenesis of the corpus callosum, Small... |
ORPHA:300570 |
| East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Short stature, Microcephaly, Cerebellar hypoplasia, Dolichocephaly, Trigonocepha... |
OMIM:612530 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Microcephaly, Neonatal death, Microphthalmia, Intrauterine growth retardation, ... |
OMIM:251230 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Marden-Walker Syndrome |
|
Microcephaly, Postnatal growth retardation, Cerebellar hypoplasia, Microphthalmia, Inferior cereb... |
OMIM:248700 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Postnatal growth retardation, Heart murmur, Microphthalmia, Intrauterine growth ret... |
ORPHA:2728 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... |
OMIM:619517 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anterior plagiocephaly, Frontal bossing, Microphthalmia, Brachycephaly |
ORPHA:163649 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Spina bifida, Microcephaly, Proportionate short stature, Scaphocephaly, Brachyce... |
OMIM:234100 |
| Cach Syndrome |
|
Cerebellar atrophy, Lateral ventricle dilatation, Abnormal pons morphology, Intrauterine growth r... |
ORPHA:135 |
| Stevenson-Carey Syndrome |
|
Cerebellar hypoplasia, Microphthalmia, Brachycephaly |
OMIM:611961 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Abnormal cerebellum morphology, Delaye... |
ORPHA:2510 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Flat occiput, Short stature, Microcephaly, Hypoplasia of the iris, Secondary ... |
OMIM:251300 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly |
OMIM:613456 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Buphthalmos, Cerebellar hypopl... |
OMIM:613150 |
| Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
| Glutamine Deficiency, Congenital |
|
Micromelia, Subependymal cysts, Lateral ventricle dilatation, Camptodactyly, Neonatal death |
OMIM:610015 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Rhizomelia, Single transverse palmar crease, Sq... |
OMIM:611209 |
| Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Dolichocephaly, Dysgenesis of the ... |
OMIM:608091 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Microcephaly |
OMIM:601349 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... |
OMIM:210710 |
| Trichothiodystrophy 3, Photosensitive |
|
Trigonocephaly, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Abnormally large globe, Cerebellar hypoplasia, Microphthalmia, Progressive microcep... |
OMIM:615249 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum, Dandy-Walker m... |
OMIM:256520 |
| Weiss-Kruszka Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Colpocephaly, Clinodactyly of the 5... |
OMIM:618619 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Talipes equinovarus |
OMIM:256850 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Partial agenesis of the corpus callosum... |
OMIM:620113 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Cerebellar vermis hypoplasia, Oligohydramnios |
OMIM:618494 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Trisomy 18 |
|
Short stature, Spina bifida, Microcephaly, Anencephaly, Prominent occiput, Growth delay, Chiari m... |
ORPHA:3380 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Cubitus valgus |
OMIM:104350 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Bowing of the long bones, Syndactyly, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Short stature |
ORPHA:3191 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Frontal bossing, Microcephaly |
OMIM:614105 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... |
OMIM:613684 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Abnormality of the hand |
OMIM:221770 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Microcephaly, Postnatal growth retardation, Severe intrauterine growth retardati... |
OMIM:241410 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia, Pulmonic stenosis |
ORPHA:137634 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Temtamy Syndrome |
|
Microphthalmia, Frontal bossing, Aortic regurgitation |
OMIM:218340 |
| Warburg Micro Syndrome 3 |
|
Microcephaly, Postnatal growth retardation, Brachycephaly, Secondary microcephaly, Microphthalmia |
OMIM:614222 |
| Acute Lung Injury |
|
Hypoxemia, Addictive alcohol use |
ORPHA:178320 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Microcephaly, Bilateral microphthalmos, Cerebellar hypoplasia, Intrauterine growth... |
OMIM:610758 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Elo... |
OMIM:608629 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Frontal bossing, Short stature, Polyhydramnios, Microcephaly, Increased nuc... |
ORPHA:1052 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Split hand, Partial age... |
OMIM:305450 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Frontal bossing, Short stature, Dolichocephaly, Microphthalmia, Inferior cerebellar vermis hypopl... |
OMIM:618571 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Bowing of the long bones, Syndactyly, Ventricu... |
OMIM:249000 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Patent ductus arteriosus, Stillbirth, Cerebellar hypoplasia, Microphth... |
OMIM:616300 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Microphthalmia, Growth delay, Microcephaly |
OMIM:617244 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Microcephaly |
OMIM:619981 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia,... |
OMIM:302960 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:618087 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Bilateral microphthalmos, Severe postnatal growth retardation, Dolichocephaly, Micr... |
ORPHA:2399 |
| Martsolf Syndrome 1 |
|
Short stature, Cardiac arrest, Microcephaly, Congestive heart failure, Brachycephaly, Cardiomyopa... |
OMIM:212720 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio... |
OMIM:153400 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... |
OMIM:151050 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Brachycephaly, Pulmonic stenosis |
ORPHA:435638 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodactyly of the 5th ... |
ORPHA:397590 |
| Warburg Micro Syndrome 2 |
|
Microcephaly, Postnatal growth retardation, Brachycephaly, Secondary microcephaly, Microphthalmia |
OMIM:614225 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Dolichocephaly |
OMIM:167730 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Polyhydramnios, Microcephaly, Patent ductus arteriosus, Microphthalmia, Intrauteri... |
OMIM:603467 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Bartsocas-Papas Syndrome 2 |
|
Prominent occiput, Microphthalmia |
OMIM:619339 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Shortening of all distal phalanges of the fingers |
OMIM:615716 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Brachycephaly, Microphthalmia, Dandy-Walker malformation, Cerebellar vermis atrophy |
OMIM:156610 |
| 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 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Anophthalmia, Microcephaly |
ORPHA:139471 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:617883 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Postnatal growth retardation, Growth delay, Microphthalmia |
OMIM:206920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Da... |
OMIM:614643 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Arachnodactyly, Coxa valga, Elbow dislocation, Metaphyseal widening... |
OMIM:620083 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Myelomeningocele, Hydrocephalus, Cerebellar cyst, Short 2nd toe, Polydactyly, Radial ... |
OMIM:311200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Cerebellar hypoplasia, Pulmonic stenosis, Microphthalmia, ... |
OMIM:253800 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Prominent ca... |
ORPHA:565624 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Abnormal cerebellar vermis mor... |
ORPHA:899 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Cog5-Cdg |
|
Cerebellar atrophy, Camptodactyly of finger, Genu valgum, Finger clinodactyly, Lateral ventricle ... |
ORPHA:263487 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Agenesis of corpus c... |
OMIM:615465 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Frontal bossing, Midface retrusion, Microcephaly |
OMIM:620098 |
| Fontaine Progeroid Syndrome |
|
Turricephaly, Tricuspid regurgitation, Cerebellar vermis hypoplasia, Short stature, Craniosynosto... |
OMIM:612289 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Fraser Syndrome 3 |
|
Short toe, Stillbirth, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... |
ORPHA:464738 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior |
ORPHA:209905 |
| Whipple Disease |
|
Polydipsia, Anorexia |
ORPHA:3452 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Meningoencephalocele, Buphthalmos,... |
OMIM:236670 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial agenesis of the co... |
OMIM:270400 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
| Marchiafava-Bignami Disease |
|
Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Short stature, Microcephaly, Patent ductus arteriosus, Microphthalmia, Intrauter... |
ORPHA:250989 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Frontal bossing, Short stature |
OMIM:617306 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Age... |
OMIM:618820 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Brachycephaly |
ORPHA:404440 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Patent ductus arteriosus, Anophthalmia |
ORPHA:77298 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Spina bifida, Partial agenesis of the ... |
OMIM:304050 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Microcephaly, Patent ductus arteriosus, Scaphocephaly, Cranial asymmetry, Growth d... |
OMIM:614886 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Intrauterine ... |
OMIM:180860 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly |
ORPHA:1942 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Microcephaly |
OMIM:147250 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Microcephaly, Umbilical hernia, Cerebellar hypoplasia, Microphthalmia |
ORPHA:2166 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ascites, Short stature |
OMIM:602361 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Microcephaly, Biparietal narrowing, Aniridia, Microphthalmia |
ORPHA:251038 |
| Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
| Atelis Syndrome 2 |
|
Frontal bossing, Microcephaly, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous... |
OMIM:620185 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Spina bifida, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Microcephaly, Portal hypertension, Patent ductus arteriosus, S... |
OMIM:620005 |
| Papillorenal Syndrome |
|
Short stature, Edema, Chiari type I malformation, Hypertension, Microphthalmia |
OMIM:120330 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... |
OMIM:305400 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Cerebellar hypoplasia, Short palm, Clinodactyly, Agenesi... |
OMIM:217980 |
| Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Femur fracture, Lateral ventricle dilatation |
OMIM:612301 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Microcephaly |
ORPHA:1352 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Microcephaly, Retinal hemorrhage, Hypoplas... |
OMIM:609049 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Bowing of the legs, Hypoplastic ili... |
ORPHA:1855 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Malan Overgrowth Syndrome |
|
Slender long bone, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
| Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Premature Aging Syndrome, Penttinen Type |
|
Frontal bossing, Corneal stromal edema, Retrocerebellar cyst, Thin calvarium, Microphthalmia, Mid... |
OMIM:601812 |
| Holoprosencephaly |
|
Encephalocele, Frontal bossing, Anophthalmia, Flat occiput, Microcephaly, Spinal dysraphism, Bran... |
ORPHA:2162 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Intrauterine growth retardation |
OMIM:244300 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Dysplastic corpus callosum, Lateral ventricle dilatation, Clinodacty... |
ORPHA:544488 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia, Cerebellar hypoplasia, Microcephaly |
OMIM:264480 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Microc... |
OMIM:206900 |
| Monosomy 9Q22.3 |
|
Trigonocephaly, Microphthalmia, Umbilical hernia, Chiari malformation |
ORPHA:77301 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Talipes equinovarus, Campto... |
ORPHA:314679 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Frontal bossing, Short stature, Severe postnatal growth retardation |
ORPHA:35173 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Frontal bossing, Short stature, Brachycephaly |
OMIM:257850 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Cerebellar atrophy, Ventriculomegaly |
OMIM:616430 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Proportionate short stature, Microcephaly, Congestive heart failure, Brachycepha... |
ORPHA:2108 |
| Refsum Disease |
|
Heart block, Microphthalmia, Cardiomyopathy |
ORPHA:773 |
| Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
| Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Occipital meningocele, Microcephaly, Bilateral microphthalmos, Cra... |
OMIM:610828 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cerebellar vermis hypoplasia, Cerebellar cyst |
OMIM:616538 |
| Myhre Syndrome |
|
Short stature, Microcephaly, Pericardial effusion, Patent ductus arteriosus, Birth length less th... |
OMIM:139210 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Single transverse palmar crease, Metatarsus adductus, Cubitus valgus, Epiphys... |
OMIM:614866 |
| Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:619135 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Short stature, Congestive heart failure, Retinal hemorrhage, Pulmonar... |
ORPHA:464 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1587 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Cerebellar dysplasia |
OMIM:601374 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Stillbirth, Cerebellar hypopl... |
OMIM:243605 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Short stature, Severe short stature, Patent ductus arteriosus, Bilateral microphtha... |
OMIM:601186 |
| Teebi-Shaltout Syndrome |
|
Turricephaly, Short stature, Microcephaly, Scaphocephaly, Microphthalmia, Aortic valve stenosis |
OMIM:272950 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Addictive alcohol use |
ORPHA:36238 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia, Short stature, Microcephaly |
OMIM:610651 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Lateral ventricle dil... |
ORPHA:572798 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypoplasia of the pon... |
OMIM:616975 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:617397 |
| Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia, Microcephaly |
OMIM:234050 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension, Microcephaly |
OMIM:616449 |
| Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly |
OMIM:301043 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb |
OMIM:239710 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Cat Eye Syndrome |
|
Short stature, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Microphthalmia |
OMIM:115470 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios, Microcephaly |
ORPHA:364577 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Pulmonary arterial hypertension, Microcephaly |
ORPHA:65286 |
| Gitelman Syndrome |
|
Polydipsia, Salt craving |
OMIM:263800 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Turricephaly, Short stature, Spina bifida, Microcephaly, Polyhydramn... |
ORPHA:567 |
| Fanconi Anemia |
|
Frontal bossing, Short stature, Spina bifida, Microcephaly, Patent ductus arteriosus, Aplasia/Hyp... |
ORPHA:84 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Single transverse palmar crease, Colpocephaly |
OMIM:309801 |
| Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
| Jacobsen Syndrome |
|
Flat occiput, Microcephaly, Macular hypoplasia, Trigonocephaly, Microphthalmia, Intrauterine grow... |
OMIM:147791 |
| Cohen Syndrome |
|
Short stature, Microcephaly, Delayed puberty, Microphthalmia, Intrauterine growth retardation |
ORPHA:193 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:257910 |
| Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Severe short stature, Optic nerve hypoplasia, Craniosynostosis, Microcephaly,... |
ORPHA:468631 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Lateral ventricle dilatation, Dysg... |
OMIM:619479 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Brachydactyly |
OMIM:619995 |
| Cockayne Syndrome B |
|
Severe short stature, Cerebellar calcifications, Microcephaly, Postnatal growth retardation, Hypo... |
OMIM:133540 |
| Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Patent ductus arteriosus, Brachycephaly, Micro... |
ORPHA:861 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Cranium bifidum occultum, Microphthalmia, Midface retrusion, Hypoplasia of the fro... |
OMIM:229400 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Frontal bossing, Brachycephaly, Microcephaly |
ORPHA:1236 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Small hand, 2-3 toe syndactyly, Short foot, Lateral ventricle dilatation, Intrauterin... |
OMIM:619229 |
| Cousin Syndrome |
|
Frontal bossing, Rhizomelia, Disproportionate short stature, Hydranencephaly, Microphthalmia |
OMIM:260660 |
| Roberts Syndrome |
|
Polyhydramnios, Craniosynostosis, Microcephaly, Postnatal growth retardation, Brachycephaly, Seve... |
ORPHA:3103 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Hip dysplasia, Ventriculomegaly, Proximal placement of thumb |
ORPHA:261250 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre... |
ORPHA:2754 |
| Phace Association |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Cerebellar hypoplasia, Microphthalmia, Dandy-Wa... |
OMIM:606519 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Hypoplasia of the iris, Umbil... |
ORPHA:2092 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Polyhydramnios, Pulmonary arterial hypertension, Dolichocephaly, M... |
OMIM:620186 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportio... |
OMIM:263520 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Telangiectasia, Short stature, Microcephaly |
OMIM:601675 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Patent ductus arteriosus |
ORPHA:2712 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Colpocephaly, Intrauterine growth retardatio... |
OMIM:618460 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Short metatar... |
OMIM:123450 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Patent ductus arteriosus |
ORPHA:2328 |
| Momo Syndrome |
|
Frontal bossing, Bilateral microphthalmos, Short stature, Brachycephaly |
ORPHA:2563 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microcephaly, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Mi... |
OMIM:100300 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:613001 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Microcephaly |
ORPHA:2714 |
| Trichothiodystrophy |
|
Craniosynostosis, Microcephaly, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia, Diffu... |
ORPHA:33364 |
| Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... |
OMIM:176270 |
| Noonan Syndrome 14 |
|
Scapular winging, Deep palmar crease, Lateral ventricle dilatation, Cubitus valgus, Clinodactyly,... |
OMIM:619745 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Short humerus, Short femur, Tapered finger, Lateral ventricle dilatation, Sho... |
OMIM:618367 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Polyhydramnios |
ORPHA:3301 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Genu valgum |
ORPHA:488627 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Meckel Syndrome |
|
Encephalocele, Anophthalmia, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the iris, Microphth... |
ORPHA:564 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Microcephaly, Chylothorax, Microphthalmia,... |
ORPHA:2526 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Frontal bossing, Parietal bossing, Spina bifida |
OMIM:109400 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Tapered finger, Short thumb, Colpocephaly, Clinodactyly of the 5th finger, Enlarged cerebellum, B... |
ORPHA:477993 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Long fingers, Lateral ventricle dilatation, Finger joint hypermobility... |
OMIM:617557 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Telangiectasia, Corneal neovascularization, Microcephaly |
OMIM:278730 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
| 2Q31.1 Microdeletion Syndrome |
|
Trigonocephaly, Microphthalmia, Short stature, Microcephaly |
ORPHA:251014 |
| Aicardi Syndrome |
|
Microcephaly, Plagiocephaly, Delayed puberty, Aplasia/Hypoplasia of the cerebellum, Microphthalmia |
ORPHA:50 |
| Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Growth delay, Umbilical hernia, Dolichocephaly, Microphthalmia |
OMIM:613884 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature, Microcephaly |
ORPHA:568 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Small hand, Short foot, Lateral ventricle dilatation, Bilateral talipes equinova... |
ORPHA:177907 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia |
ORPHA:520 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Anophthalmia, Plagiocephaly, Growth delay, Microphthalmia, Truncus arteriosus |
ORPHA:2538 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Short stature, Optic nerve hypoplasia, Spina bifida, Microcephaly, Micropht... |
ORPHA:508498 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Microcephaly |
OMIM:227645 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
| Dubowitz Syndrome |
|
Short stature, Microcephaly, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia... |
OMIM:223370 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... |
OMIM:615789 |
| Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Cerebellar hypoplasia, Intrauterine growth retardation |
OMIM:614083 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
| Holoprosencephaly 1 |
|
Short stature, Proboscis, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Midface retrusion |
OMIM:236100 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Rubinstein-Taybi Syndrome 1 |
|
Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Spina bifida, Ra... |
OMIM:180849 |
| Fryns Syndrome |
|
Microphthalmia, Dandy-Walker malformation, Polyhydramnios |
ORPHA:2059 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Talipes equinovarus, Ventriculomegaly |
OMIM:617260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Buphthalmos, Hypoplasia of the retina, Cerebellar hypoplasia, Microphthalmia, Cereb... |
OMIM:253280 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... |
OMIM:610168 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use |
ORPHA:90065 |
| Charge Syndrome |
|
Anophthalmia, Short stature, Polyhydramnios, Microcephaly, Postnatal growth retardation, Patent d... |
ORPHA:138 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Brachycephaly, Decreased calvarial ossification, Neonatal death, Microphthalmia |
OMIM:617925 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
| Mend Syndrome |
|
Short stature, Microphthalmia, Aortic valve stenosis, Midface retrusion, Dandy-Walker malformation |
ORPHA:401973 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature, Brachycephaly |
OMIM:201180 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Severe short stature, Microcephaly, Dilated cardiomyopathy... |
ORPHA:2556 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Deep palmar crease, Choroid plexus cyst, Lateral ventricle dilatation, Adducted thumb |
ORPHA:293725 |
| Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Incre... |
ORPHA:90324 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod... |
OMIM:611174 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Short stature, Microcephaly, Retinal hemorrhage, Microphthalmia |
OMIM:308300 |
| Erdheim-Chester Disease |
|
Polydipsia |
ORPHA:35687 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Frontal bossing, Flat occiput, Short stature, Dehydration, Buphthalmos, Joint swelling, Umbilical... |
ORPHA:534 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Brachydactyly, Syndactyly |
OMIM:616028 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Syndactyly |
OMIM:614520 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Severe short stature, Postnatal growth retardation, Retinal hemorrhage, Growt... |
ORPHA:191 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Short stature, Microcephaly, Patent ductus arteriosus, Phthisis bulbi, Umbilical he... |
OMIM:300166 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Wolfram Syndrome |
|
Polydipsia |
ORPHA:3463 |
| Degcags Syndrome |
|
Tachycardia, Craniosynostosis, Microcephaly, Polyhydramnios, Patent ductus arteriosus, Plagioceph... |
OMIM:619488 |
| Parathyroid Carcinoma |
|
Polydipsia, Dysphagia |
ORPHA:143 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Avascul... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Avascul... |
ORPHA:353277 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Monosomy 9P |
|
Microcephaly, Brachycephaly, Trigonocephaly, Microphthalmia, Calvarial skull defect |
ORPHA:261112 |
| Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Midface retrusion |
OMIM:610829 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:600901 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
| Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Brachydactyly, Rhizomelia, Single transverse palmar crease, Limited... |
OMIM:261540 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos, Microcephaly |
OMIM:618874 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Anencephaly, Stillbirth, Microphthalmia, Dandy-Walker malformation, Intrauterine ... |
OMIM:236680 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:227650 |
| Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Tapered finger, Small hand, Genu valgum, Lateral ventricle dilatation, ... |
OMIM:615873 |
| Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Frontal bossing, Short stature, Telangiectasia |
OMIM:268400 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Lateral ventricle dilatation,... |
OMIM:619869 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Large placenta, Short thumb, Short femoral neck, Int... |
ORPHA:1708 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb |
ORPHA:1439 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios, Microcephaly |
OMIM:608670 |
| Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Patent ductus arteriosus, Short stature, Microcephaly |
OMIM:227646 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Syndactyly, Severe intrauterine growth retardation, Clinodactyl... |
ORPHA:96182 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Cranial asymmetry, Short stature |
OMIM:163200 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
| Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Frontal bossing, Turricephaly, Microcephaly, Patent ductus arteriosus, Brac... |
OMIM:612474 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microcephaly, Brachycephaly, Plagiocephaly, Cerebellar hypoplasia, Lambdoidal crani... |
OMIM:607932 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrops fetalis |
ORPHA:268249 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Addictive alcohol use |
ORPHA:31826 |
| Gitelman Syndrome |
|
Polydipsia, Salt craving |
ORPHA:358 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Short stature, Microcephaly, Myelomeningocele, Telangiectasia, Umbilical hernia, Ch... |
OMIM:305600 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Dandy... |
ORPHA:42775 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Cutaneous syndactyly, Radial deviation of finger, Sh... |
OMIM:148050 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd... |
OMIM:616894 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Fryns Syndrome |
|
Polyhydramnios, Stillbirth, Chylothorax, Microphthalmia, Dandy-Walker malformation |
OMIM:229850 |
| Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Arrhythmia, Microcephaly |
OMIM:164200 |
| Witteveen-Kolk Syndrome |
|
Frontal bossing, Branchial fistula, Short stature, Polyhydramnios, Microcephaly, Intracranial hem... |
OMIM:613406 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short stature, Microcephaly, Lens coloboma, Umbilical hernia, Microphtha... |
OMIM:619539 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Short statu... |
ORPHA:508488 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone |
ORPHA:306542 |
| Pallister-Hall Syndrome |
|
Short stature, Patent ductus arteriosus, Scaphocephaly, Umbilical hernia, Cerebellar hypoplasia, ... |
ORPHA:672 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Microcephaly, Myelomeningocele, Umbilical hernia, Microphthalmia, Ca... |
ORPHA:2052 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Clinodactyly, Cerebellar hypoplasia, Colpocephaly |
ORPHA:75857 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Lateral ventricle dilatat... |
OMIM:181270 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Parietal foramina, Microphthalmia, Craniosynostosis, Microcephaly |
OMIM:609945 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Microcephaly, Postnatal growth retardation, Branchia... |
OMIM:113620 |
| Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
| Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
| Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Short foot, Hip dysplasia, Lateral v... |
OMIM:607872 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
| Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
| Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Microcephaly, Postnatal growth retardation, Patent ductus arteriosu... |
OMIM:214800 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Hydrocephalus, Hip dysplasia, Lateral ventricle dilatation, Short 5th... |
OMIM:147920 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Proboscis, Patent ductus arteriosus, Microphthalmia |
ORPHA:141099 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Short stature, Brachycephaly, Microcephaly |
OMIM:309500 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
| Holoprosencephaly 2 |
|
Proboscis, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Midface retrusion |
OMIM:157170 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Short stature, Microcephaly |
OMIM:259770 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Hand polydactyly, Syndactyly |
OMIM:210900 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia |
OMIM:241200 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Midface retrusion |
OMIM:603457 |
| Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Microcephaly, Myelomeningocele, Bilateral microphthalmos, Calvarial ... |
OMIM:219000 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, A... |
OMIM:606170 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:616734 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Absent thumb, Dysplastic corpus callosum, Slender long bone, Lateral ventricle di... |
ORPHA:500150 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd... |
OMIM:613610 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, La... |
OMIM:619534 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic str... |
OMIM:175780 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Frontal bossing, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Pate... |
ORPHA:261552 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Microcephaly |
ORPHA:3186 |
| Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Optic disc hypoplasia, Short stature, Cranial asymmetry, Chiari type I malformat... |
ORPHA:3455 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, A... |
ORPHA:261537 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Delayed puberty, Aplasia/Hy... |
ORPHA:649 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
| Mowat-Wilson Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Patent ... |
ORPHA:2152 |
| Mowat-Wilson Syndrome |
|
Short stature, Microcephaly, Patent ductus arteriosus, Pulmonic stenosis, Microphthalmia |
OMIM:235730 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:300896 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Townes-Brocks Syndrome |
|
Short stature, Patent ductus arteriosus, Chiari malformation, Delayed puberty, Microphthalmia |
ORPHA:857 |
| Lowe Oculocerebrorenal Syndrome |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:309000 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas... |
OMIM:150230 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Patent ductus arteriosus, Branchial anomaly, Chiari malfor... |
OMIM:164210 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Short stature, Microcephaly, Primary microcephaly, Umbilical hernia, Intrauterine growth retardation |
ORPHA:79351 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia, Microcephaly |
OMIM:309800 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Adducted thumb |
OMIM:601815 |
