| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... |
OMIM:608636 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Pick Disease Of Brain |
|
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... |
OMIM:172700 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Wildervanck Syndrome |
|
Facial palsy, Congenital sensorineural hearing impairment, Meningocele, Pseudopapilledema, Lens s... |
ORPHA:3456 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abnormal soc... |
ORPHA:1020 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Short attention span, Compulsive behaviors, Attention deficit hyperacti... |
ORPHA:444002 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida, Microcephaly |
ORPHA:64754 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
| Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Hsd10 Disease |
|
Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Microtia, Intrauterine growth retardati... |
ORPHA:1914 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Microcephaly |
ORPHA:63862 |
| Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retarda... |
OMIM:611134 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Spina bifida, Hearing impairment |
ORPHA:2345 |
| Alg3-Cdg |
|
Cataract, Abnormal pinna morphology, Neural tube defect, Cardiomyopathy, Hearing impairment |
ORPHA:79321 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Iris coloboma, Spina bifida |
ORPHA:1104 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Short stature, Hydrocephalus, Meningocele, Anen... |
ORPHA:1908 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Short stature, Spina bifida, Microcornea, Mi... |
ORPHA:1327 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Cataract, Hydrocephalus, Meningocele, Holoprosencephaly, Intra... |
ORPHA:3376 |
| Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
| Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Meningocele, Optic atrophy, Growth delay,... |
OMIM:614424 |
| Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, He... |
ORPHA:894 |
| Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hyd... |
ORPHA:2839 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Meningocele, Protruding ear, Chorioretinal colo... |
ORPHA:2031 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| Amish Lethal Microcephaly |
|
Agenesis of corpus callosum, Optic atrophy, Spina bifida |
ORPHA:99742 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Meningocele, Umbilical hernia, Spina bifida occ... |
ORPHA:2311 |
| Phaver Syndrome |
|
Posteriorly rotated ears, Myelomeningocele, Aplasia/Hypoplasia of the earlobes, Low-set ears, Pte... |
ORPHA:2876 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Neu-Laxova Syndrome 2 |
|
Low-set ears, Intrauterine growth retardation, Cataract, Spina bifida |
OMIM:616038 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Myelomeningocele, Hydrocephalus, Hypoplastic hel... |
ORPHA:2437 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal helix morphology, Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
ORPHA:2789 |
| Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningocele, Atresi... |
ORPHA:1393 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Fountain Syndrome |
|
Sensorineural hearing impairment, Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Short stature, Spina bifida, Sensorineural hearing impairment, Antecubital... |
OMIM:161200 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Short stature, Abnormality of the middle ear ossicles, Patent ductus ar... |
OMIM:130720 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Cataract, Short stature, Spina bifida, Anencephaly, Microcorne... |
ORPHA:3380 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme... |
ORPHA:309271 |
| Lathosterolosis |
|
Cataract, Meningocele, Microcornea, Opacification of the corneal stroma, Intrauterine growth reta... |
ORPHA:46059 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Anotia, In... |
ORPHA:3412 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Agenesis of corpus callosum |
ORPHA:1827 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Short stature, Rhizomelic leg shorten... |
ORPHA:397715 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocele, Blue irides, Hypopla... |
OMIM:193500 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Emotional ... |
ORPHA:309263 |
| Focal Dermal Hypoplasia |
|
Corneal opacity, Spina bifida, Ectopia lentis, Patent ductus arteriosus, Hypoplasia of the iris, ... |
ORPHA:2092 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida |
ORPHA:2874 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Spina bifida, Patent ductus arteriosus, Low-set ears, Intrauterine growth retard... |
ORPHA:99776 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Spina bifida, Protruding ear, Abnormal antihelix morphology, A... |
ORPHA:261318 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum, Iris coloboma |
OMIM:601707 |
| Knobloch Syndrome 1 |
|
Occipital encephalocele, Optic disc pallor, Band keratopathy, Patent ductus arteriosus, Developme... |
OMIM:267750 |
| Pagod Syndrome |
|
Encephalocele, Sudden cardiac death, Spina bifida, Microcephaly, Meningocele, Arrhythmia |
ORPHA:991 |
| Limb Body Wall Complex |
|
Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short... |
ORPHA:2369 |
| 48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Microcephaly |
OMIM:613776 |
| Neu-Laxova Syndrome 1 |
|
Cataract, Pterygium, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Sm... |
OMIM:256520 |
| Neu-Laxova Syndrome |
|
Cataract, Spina bifida, Intrauterine growth retardation, Pterygium, Macrotia |
ORPHA:2671 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Facial palsy, Spina bifida, Optic nerve hypoplasia, Coloboma, Abnormal optic disc ... |
ORPHA:508498 |
| Hallermann-Streiff Syndrome |
|
Cataract, Spina bifida, Proportionate short stature, Optic disc coloboma, Low-set ears, Chorioret... |
OMIM:234100 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Posteriorly rotated ears, Spina bifida, Patent ductus arteriosus, Cupped ear, Partial agenesis of... |
OMIM:619480 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Aicardi Syndrome |
|
Cataract, Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Op... |
OMIM:304050 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Short stature, Spina bifida, Aplasia/Hypoplasia of t... |
ORPHA:2308 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Nuclear cataract, Meningocele |
ORPHA:1010 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Retinal coloboma, Low-set ears, Occipital meningocele |
OMIM:616546 |
| 22Q11.2 Deletion Syndrome |
|
Small earlobe, Aganglionic megacolon, Cataract, Spina bifida, Hearing impairment, Short stature, ... |
ORPHA:567 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Cataract, Iris coloboma, Spina bifida |
OMIM:109400 |
| Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Protruding ear |
ORPHA:2879 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
| Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Spina bifida |
ORPHA:93323 |
| Fanconi Anemia |
|
Cataract, Aganglionic megacolon, Short stature, Spina bifida, Hearing impairment, External ear ma... |
ORPHA:84 |
| Fg Syndrome Type 1 |
|
Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity disorder |
ORPHA:93932 |
| Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:93924 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Orofaciodigital Syndrome Vi |
|
Posteriorly rotated ears, Short stature, Low-set ears, Conductive hearing impairment, Occipital m... |
OMIM:277170 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Dysphagia, Depression, Dementia, Disin... |
ORPHA:646 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Postnatal growth retardation, Hydrocephalus, Optic atrophy, Protruding ear, Develop... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Postnatal growth retardation, Hydrocephalus, Optic atrophy, Protruding ear, Develop... |
ORPHA:363958 |
| Marfan Syndrome |
|
Flat cornea, Lens luxation, Ectopia lentis, Meningocele, Hypoplasia of the iris, Lens subluxation |
ORPHA:558 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Short stature, Corneal opacity, Spina bifida, Patent ductus arteriosus |
OMIM:274000 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
| Arima Syndrome |
|
Growth delay, Occipital meningocele, Optic atrophy, Chorioretinal coloboma |
OMIM:243910 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormality of the stapes, Aganglionic megacolon, Abnormal heart morph... |
ORPHA:798 |
| Rubinstein-Taybi Syndrome 1 |
|
Cataract, Short stature, Spina bifida, Simple ear, Postnatal growth retardation, Patent ductus ar... |
OMIM:180849 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... |
OMIM:192350 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior, Aggressive behavior |
ORPHA:314647 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
| Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Low-se... |
OMIM:114290 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Otopalatodigital Syndrome, Type Ii |
|
Cataract, Posteriorly rotated ears, Short stature, Spina bifida, Postnatal growth retardation, Hy... |
OMIM:304120 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
| Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Abnormal pinna morphology, Disproportionate short stature, Long ear, Low-set ears, Occipital meni... |
OMIM:276820 |
| Williams Syndrome |
|
Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behav... |
ORPHA:904 |
