| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... |
ORPHA:280397 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Schizophrenia 19 |
|
Cognitive impairment, Bipolar affective disorder |
OMIM:617629 |
| 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, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
| Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
| Frontotemporal Dementia |
|
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Dementia, Fro... |
OMIM:600274 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Pick Disease Of Brain |
|
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... |
OMIM:172700 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
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, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, 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 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
| Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
| Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... |
ORPHA:96369 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Childhood Disintegrative Disorder |
|
Impaired social interactions, Abnormal emotion/affect behavior, Motor deterioration, Anxiety, Pro... |
ORPHA:168782 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
| Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depression |
OMIM:619191 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
| Huntington Disease-Like 1 |
|
Restlessness, Anxiety, Dementia, Aggressive behavior, Depression |
OMIM:603218 |
| Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... |
OMIM:618697 |
| Huntington Disease-Like 2 |
|
Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Memory impairment, Irritability, Depres... |
OMIM:606438 |
| 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 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... |
ORPHA:101039 |
| Eales Disease |
|
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... |
ORPHA:40923 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction |
ORPHA:329249 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Wildervanck Syndrome |
|
Meningocele, Facial palsy, Lens subluxation, Congenital sensorineural hearing impairment, Pseudop... |
ORPHA:3456 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
| Neural Tube Defects, Susceptibility To |
|
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Microcephaly, Spina bifida |
ORPHA:64754 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Humero-Radial Synostosis |
|
Meningocele, Chorioretinal coloboma, Iris coloboma |
ORPHA:3265 |
| Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Holoprosencephaly, Optic atrophy |
ORPHA:588 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Schisis Association |
|
Encephalocele, Anencephaly, Microcephaly, Spina bifida |
ORPHA:63862 |
| Subependymal Nodular Heterotopia |
|
Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital encephalocele, ... |
ORPHA:101030 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Hydrocephalus, Myelomeningocele, Intrauterine growth retardation, Hearing impairment, O... |
ORPHA:1914 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Semantic dementia, Agitation, Disinhibition, Dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:444002 |
| Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Young-Onset Parkinson Disease |
|
Impaired social interactions, Apathy, Agitation, Cognitive impairment, Anxiety, Dementia, Frontal... |
ORPHA:2828 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum |
OMIM:207950 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Intrauterine growth retardation, Anencephaly, Microcep... |
OMIM:611134 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Hearing impairment, Spina bifida |
ORPHA:2345 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, ... |
ORPHA:1908 |
| Alg3-Cdg |
|
Cataract, Abnormal pinna morphology, Cardiomyopathy, Hearing impairment, Neural tube defect |
ORPHA:79321 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Iris coloboma, Spina bifida |
ORPHA:1104 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Low-set, posteriorly rotated ears, Attached earlobe, Spina bifida, Intrauterine growth retardatio... |
ORPHA:1327 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
| Childhood Absence Epilepsy |
|
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Low self esteem, Dep... |
ORPHA:64280 |
| Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
| Dopa-Responsive Dystonia |
|
Emotional lability, Agoraphobia, Anxiety, Abnormal social behavior, Irritability, Panic attack, D... |
ORPHA:255 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Triploidy |
|
Cataract, Low-set, posteriorly rotated ears, Iris coloboma, Hydrocephalus, Meningocele, Holoprose... |
ORPHA:3376 |
| Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Intrauterine growth retardation, Anencephaly |
OMIM:603194 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Hsd10 Disease |
|
Dysphagia, Abnormal social behavior |
ORPHA:391417 |
| Joubert Syndrome 14 |
|
Encephalocele, Low-set ears, Hydrocephalus, Meningocele, Posteriorly rotated ears, Growth delay, ... |
OMIM:614424 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... |
ORPHA:449291 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele, Aganglionic megacolon, Hearing impairment, Congenital sensorineural he... |
ORPHA:894 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Hydranencephaly, Hydrocephalus, Abnormal pinna morphology, Spina bifida, Mesomelic... |
ORPHA:2839 |
| Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Protruding ear, Meningocele, Short stature, Chorioretinal colo... |
ORPHA:2031 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
| Amish Lethal Microcephaly |
|
Optic atrophy, Agenesis of corpus callosum, Spina bifida |
ORPHA:99742 |
| Phaver Syndrome |
|
Low-set ears, Conductive hearing impairment, Myelomeningocele, Posteriorly rotated ears, Intraute... |
ORPHA:2876 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Meningocele, Umbilical hernia, Intrauterine growth retardation... |
ORPHA:2311 |
| Neu-Laxova Syndrome 2 |
|
Cataract, Low-set ears, Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Prominent antitragus, Myelomeningocele, Hydrocephalus, Spina b... |
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 |
|
Low-set ears, Conductive hearing impairment, Iris coloboma, Abnormality of the middle ear ossicle... |
ORPHA:2789 |
| Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Atre... |
ORPHA:1393 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Fountain Syndrome |
|
Short stature, Spina bifida occulta, Sensorineural hearing impairment, Spina bifida |
ORPHA:3219 |
| Nail-Patella Syndrome |
|
Cataract, Lester's sign, Spina bifida, Short stature, Microphakia, Keratoconus, Sensorineural hea... |
OMIM:161200 |
| Obsolete: Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Meningocele, Myelomeningocele, Aqueductal... |
ORPHA:1136 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Hydrocephalu... |
OMIM:130720 |
| Trisomy 18 |
|
Cataract, Low-set, posteriorly rotated ears, Cyclopia, Iris coloboma, Spina bifida, Holoprosencep... |
ORPHA:3380 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Hydrocephalus, Spina bifida, Aqueductal stenosis, Intrauterine growth ret... |
ORPHA:3412 |
| Lathosterolosis |
|
Cataract, Meningocele, Intrauterine growth retardation, Hearing impairment, Opacification of the ... |
ORPHA:46059 |
| Sacral Defect With Anterior Meningocele |
|
Hydrocephalus, Meningocele, Myelomeningocele, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
| Metachromatic Leukodystrophy, Adult Form |
|
Emotional lability, Dementia, Abnormal social behavior, Memory impairment, Progressive psychomoto... |
ORPHA:309271 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Agenesis of corpus callosum |
ORPHA:1827 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Self-mutilation, Shyness, Self-injurious behavior, Aggressive behavior |
ORPHA:293948 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:530983 |
| Waardenburg Syndrome, Type 1 |
|
Blue irides, Myelomeningocele, Spina bifida, Hypoplastic iris stroma, Congenital sensorineural he... |
OMIM:193500 |
| Iniencephaly |
|
Encephalocele, Spinal dysraphism, Low-set ears, Myelomeningocele, Spina bifida, Hydrocephalus, Rh... |
ORPHA:63259 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Colpocephaly, Low-set, posteriorly rotated ears, Low-set ears, Me... |
ORPHA:397715 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Ectopia lentis, Iris coloboma, Spina bifida, Umbilical hernia, Hearing impairment, ... |
ORPHA:2092 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida |
ORPHA:2874 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Retinal cotton wool spot, Retinal neovascularization, Macul... |
ORPHA:247691 |
| Mosaic Trisomy 9 |
|
Low-set ears, Spina bifida, Intrauterine growth retardation, Corneal opacity, Patent ductus arter... |
ORPHA:99776 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Protruding ear, Spina bifida, Umbilical hernia, Abnormal antih... |
ORPHA:261318 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Agenesis of corpus callosum, Iris coloboma, Lipomyelomeningocele |
OMIM:601707 |
| Knobloch Syndrome 1 |
|
Peripapillary atrophy, Cortical cataract, Occipital encephalocele, Optic disc pallor, Band kerato... |
OMIM:267750 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Meningocele, Arrhythmia, Sudden cardiac death, Microcephaly |
ORPHA:991 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration |
ORPHA:309263 |
| 48,Xxxy Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent beha... |
ORPHA:96263 |
| Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Iris coloboma, Myelomeningocele, Spina bifida, Hydrocephalus... |
ORPHA:2369 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Microcephaly, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Neu-Laxova Syndrome 1 |
|
Cataract, Short umbilical cord, Low-set ears, Hydranencephaly, Spina bifida, Intrauterine growth ... |
OMIM:256520 |
| Neu-Laxova Syndrome |
|
Cataract, Spina bifida, Intrauterine growth retardation, Macrotia, Pterygium |
ORPHA:2671 |
| Hallermann-Streiff Syndrome |
|
Cataract, Low-set ears, Iris coloboma, Spina bifida, Chorioretinal coloboma, Optic disc coloboma,... |
OMIM:234100 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal optic disc morphology, Iris coloboma, Spina bifida, Short stature, Optic nerve hypoplasi... |
ORPHA:508498 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Low-set ears, Partial agenesis of the corpus callosum, Spina bifida, Posteriorly rotated ears, Un... |
OMIM:619480 |
| Aicardi Syndrome |
|
Cataract, Partial agenesis of the corpus callosum, Spina bifida, Optic atrophy, Lateral ventricle... |
OMIM:304050 |
| Jacobsen Syndrome |
|
Cataract, Low-set, posteriorly rotated ears, Iris coloboma, Spina bifida, Intrauterine growth ret... |
ORPHA:2308 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Nuclear cataract, Unilateral deafness |
ORPHA:1010 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Hydrocephalus, Anencephaly, Occipital meningocele, Retinal coloboma |
OMIM:616546 |
| 22Q11.2 Deletion Syndrome |
|
Cataract, Low-set ears, Occipital myelomeningocele, Conductive hearing impairment, Spina bifida, ... |
ORPHA:567 |
| Niemann-Pick Disease Type C |
|
Apathy, Disinhibition, Cognitive impairment, Bipolar affective disorder, Progressive neurologic d... |
ORPHA:646 |
| Orofaciodigital Syndrome Vi |
|
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Short stature, Occipital m... |
OMIM:277170 |
| Phocomelia, Schinzel Type |
|
Meningocele, Intrauterine growth retardation, Protruding ear, Disproportionate short stature |
ORPHA:2879 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Iris coloboma, Hydrocephalus, Spina bifida |
OMIM:109400 |
| Holoprosencephaly 7 |
|
Iris coloboma, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprosencephaly, S... |
OMIM:610828 |
| Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Spina bifida |
ORPHA:93323 |
| Fanconi Anemia |
|
Cataract, External ear malformation, Hydrocephalus, Spina bifida, Umbilical hernia, Astigmatism, ... |
ORPHA:84 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Semilobar Holoprosencephaly |
|
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Sensorineural hearing impairme... |
ORPHA:93924 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Impaired social interactions, Anxiety, Attention deficit hyperactivity disorder, Ab... |
ORPHA:177907 |
| Marfan Syndrome |
|
Ectopia lentis, Meningocele, Lens luxation, Hypoplasia of the iris, Lens subluxation, Flat cornea |
ORPHA:558 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Protruding ear, Hydrocephalus, Spina bifida, Hearing impairment, Macrotia, Developmental cataract... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Protruding ear, Hydrocephalus, Spina bifida, Hearing impairment, Macrotia, Developmental cataract... |
ORPHA:363958 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Spina bifida, Short stature, Corneal opacity, Patent ductus arteriosus |
OMIM:274000 |
| Arima Syndrome |
|
Occipital meningocele, Optic atrophy, Chorioretinal coloboma, Growth delay |
OMIM:243910 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Self-... |
ORPHA:805 |
| Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:93932 |
| Rubinstein-Taybi Syndrome 1 |
|
Cataract, Low-set ears, Spina bifida, Short stature, Hearing impairment, Spina bifida occulta, Si... |
OMIM:180849 |
| Vater/Vacterl Association |
|
Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine growth retardation, Patent du... |
OMIM:192350 |
| Campomelic Dysplasia |
|
Spinal dysraphism, Low-set ears, Conductive hearing impairment, Hydrocephalus, Spina bifida, Hear... |
OMIM:114290 |
| Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Meningocele, Myelomeningocele, Lipomyelomeningocele |
ORPHA:573278 |
| Otopalatodigital Syndrome, Type Ii |
|
Cataract, Low-set ears, Conductive hearing impairment, Hydrocephalus, Spina bifida, Umbilical her... |
OMIM:304120 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior, Aggressive behavior, Memory impairment |
ORPHA:314647 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior |
ORPHA:1675 |
| Mend Syndrome |
|
Aggressive behavior, Hyperactivity, Abnormal social behavior |
ORPHA:401973 |
| Exstrophy-Epispadias Complex |
|
Microcephaly, Hydrocephalus, Spina bifida |
ORPHA:322 |
| Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Low-set ears, Abnormal pinna morphology, Occipital meningocele, Disproportionate short stature, L... |
OMIM:276820 |
| Williams Syndrome |
|
Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, De... |
ORPHA:904 |
