Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... |
OMIM:600348 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Cerebral hemorrhage... |
ORPHA:542310 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Ataxia, Babinski sign, Hand tremor, Leukoencephalopathy, Lateral... |
OMIM:615889 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Oromotor apraxia, Dysgenesis of the basal gangl... |
ORPHA:300573 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... |
OMIM:610951 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... |
OMIM:604213 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ... |
OMIM:620315 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Pontocerebellar Hypoplasia, Type 12 |
|
Polyhydramnios, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Cerebral hy... |
OMIM:618266 |
Abetal34V Amyloidosis |
|
Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ... |
ORPHA:324703 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, ... |
ORPHA:97339 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurre... |
ORPHA:36382 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... |
ORPHA:101071 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callos... |
OMIM:618709 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Multifocal hyperintensity of cerebral white matter on MRI, Transient ischemic attack, Parkinsonis... |
ORPHA:136 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Lissencephaly 4 |
|
Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Primary microce... |
OMIM:614019 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Brain Small Vessel Disease 2 |
|
Schizencephaly, Porencephalic cyst, Spastic tetraplegia, Intracranial hemorrhage, Hemiplegia, Pol... |
OMIM:614483 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... |
OMIM:620317 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom... |
OMIM:615937 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hand tremor, Limb ataxia, Lateral ventricle... |
OMIM:607596 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, Gait disturbance, Myoclonus |
ORPHA:324708 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral calcification, Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus |
ORPHA:99966 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy |
OMIM:551500 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ... |
OMIM:613162 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Petechiae, Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus, L... |
OMIM:617397 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... |
ORPHA:500166 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, Paraparesis, CSF... |
ORPHA:140989 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Microcephaly, Partial agenesis of the corpus callosum, Lateral ... |
OMIM:619517 |
Masa Syndrome |
|
Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai... |
OMIM:303350 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the co... |
ORPHA:79243 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer... |
OMIM:617668 |
Methanol Poisoning |
|
Bilateral basal ganglia lesions, Myocardial infarction, Cerebral hemorrhage, Abnormal putamen mor... |
ORPHA:31825 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... |
OMIM:619389 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath... |
OMIM:221770 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr... |
ORPHA:2703 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Truncal at... |
OMIM:220200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Masa Syndrome |
|
Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturbance, Agenesis of corpus callosum, Ventri... |
ORPHA:2466 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Spastic diplegia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... |
ORPHA:401815 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding |
ORPHA:98880 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Abnormal cerebral white matter morphology, Lateral v... |
OMIM:613443 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus callosum, Spasti... |
OMIM:618890 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc... |
ORPHA:73256 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spa... |
ORPHA:599373 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Microcephaly, Inability to walk, Dysplastic corpus callosum, Tongue fasciculations, Tetra... |
OMIM:618276 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Pontocerebellar Hypoplasia, Type 13 |
|
Edema, Microcephaly, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Hypoplasia of ... |
OMIM:618606 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,... |
ORPHA:401820 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Sp... |
ORPHA:77299 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum atrophy, Babinski sig... |
ORPHA:565624 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Stroke, Impaired distal tactile sensa... |
OMIM:182410 |
Cach Syndrome |
|
Microcephaly, Spastic diplegia, Limb ataxia, Dysmetria, Hemiparesis, Cerebral atrophy, Lateral ve... |
ORPHA:135 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Polyhydramnios, Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle dilatation, Ex... |
OMIM:618291 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:619090 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Lissencephaly 3 |
|
Agyria, Ataxia, Microcephaly, Spastic tetraplegia, Lissencephaly, Hypoplasia of the corpus callos... |
OMIM:611603 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral calcification, Cerebral cavernous malformation |
OMIM:116860 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... |
ORPHA:98878 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage, Pedal edema |
ORPHA:84090 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Hypoplasia of the corpus callosum, Thin co... |
OMIM:300049 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callosum, ... |
OMIM:615771 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Spastic tetraparesis, Simplified gyral pattern, Lateral ventricle dilatation, Hypertonia, Lissenc... |
ORPHA:284417 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c... |
OMIM:616540 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Poor fine motor coordination, Lateral ventricle dilatation, Patent ductus arteriosus |
OMIM:618330 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Partial agenesis of the corpus callosum, Spastic paraplegia, Cerebral atrophy, La... |
OMIM:617296 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Spastic diplegia, Cerebral atrophy, Abnormal basal ganglia m... |
ORPHA:255182 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Limb hypertonia, Lateral ventricle dilatation, Pol... |
OMIM:614219 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Polyhydramnios, Microcephaly, Babinski sign, Spastic tetraplegia, Cerebra... |
OMIM:619847 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spastic tetraplegia, Simplified gyral pat... |
OMIM:619302 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Lymphedema, ... |
ORPHA:2822 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly |
ORPHA:171703 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Microcephaly, Inability to walk, Lateral ventricle dilatation, Thin corpus... |
OMIM:615716 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Agenesis of corpus callosum, Ventriculomegaly, Edema |
OMIM:616570 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Simplified gyral pat... |
OMIM:619470 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Aortic val... |
OMIM:615599 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Wyburn-Mason Syndrome |
|
Cerebral palsy, Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morpholog... |
ORPHA:53719 |
Bilateral Generalized Polymicrogyria |
|
Microcephaly, Diffuse white matter abnormalities, Spastic tetraplegia, Eyelid myoclonus, Lateral ... |
ORPHA:208447 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Cerebral palsy, Dilation of Virchow-Robin spaces, Poor gross motor... |
ORPHA:2148 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Ataxia, Lateral ventricle dilatation, O... |
OMIM:608629 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Agenesis of corpus callosum, Cerebral cor... |
ORPHA:401830 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Ataxia, Poor motor coordination, T2 hypointen... |
ORPHA:25 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Hemiparesis, Hyperte... |
ORPHA:231160 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... |
OMIM:618736 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Reduced cerebral white matter volume, Inability to walk, Hydrocephalus, Spastic tetrapleg... |
OMIM:618174 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Clumsiness |
ORPHA:324422 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the corpus ca... |
OMIM:304100 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Edema, Paralysis, Myocardial infarction, Cardiogenic s... |
ORPHA:449285 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Clumsiness, Gait ataxia, Nonprogressive ... |
ORPHA:453521 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral calcification, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Moyamoy... |
ORPHA:401986 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventricle dilatat... |
OMIM:256850 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta, Hypertension, Polyhydramnios, Dehydration |
OMIM:616069 |
Familial Multiple Nevi Flammei |
|
Cerebral calcification, Edema, Pulmonary embolism, Venous insufficiency, Hemiparesis, Intracrania... |
ORPHA:624 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cerebral atrophy, Leuko... |
ORPHA:572798 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... |
ORPHA:99828 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Tetraplegia, Cerebral atrophy, Chore... |
OMIM:616034 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Partial agenesis of the corpus callosum, Spastic ... |
ORPHA:300570 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Craniosynostosis 6 |
|
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... |
OMIM:616602 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Dehydration, Agenesis of cor... |
OMIM:214150 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Microcephaly, Hydrocephalus, Abnormal pyramidal sign, Cerebral atrophy, Abnorm... |
OMIM:300884 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypertonia, Hypoplasia of the corpus callosum, Prim... |
OMIM:617090 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait imbalance, Hypoplasia of the corpus callosum, Gait at... |
ORPHA:488635 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Spastic paraplegia, Porencephalic cyst, Subcortical band ... |
OMIM:615191 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... |
OMIM:203450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Dehydration, Choreoathetosis, Cardiomyopathy, Tetraparesis |
ORPHA:27 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc... |
ORPHA:2182 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Cerebral calcification, Spastic tetraparesis, Edema, Pericardial effusion, Portal h... |
OMIM:619487 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Multifocal cerebral white matter abnormalities, Subependymal cysts, Cardiom... |
OMIM:600721 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Hypoplasia of the corpus callosum,... |
OMIM:610015 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilation of Virchow-Robin spaces, Polyhydramnios, Dysplastic corpus callosum, Increased nuchal tr... |
ORPHA:544488 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus, Intracranial hemorrhage, Microcephaly |
ORPHA:398189 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:420179 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:94080 |
Fried Syndrome |
|
Hydrocephalus, Cerebral calcification, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Cardiomyopathy, Stroke, Dehydration |
ORPHA:79312 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Alexander Disease Type I |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Rosenthal fibers, Spasticity, Abnormal cerebral w... |
ORPHA:363717 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Spastic tetraparesis, Microcephaly, Inability to walk, Cortical dy... |
ORPHA:356961 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Ataxia, Polyhydramnios, Microcephaly, Tremor, Congestive heart failure, Dehydr... |
OMIM:616271 |
Sneddon Syndrome |
|
Tremor, Chorea, Arterial stenosis, Hemiparesis, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Ataxia, Increased CSF alanine concentration, Tremor, Decreased CSF... |
ORPHA:3008 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ankle clonus, Lateral ventricle dilatation, Lower limb... |
OMIM:619995 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral calcification, Cerebral hemorrhage, Diffuse alveolar hemorr... |
ORPHA:464321 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Microcephaly, Patent ductus arteriosus, Lateral ventricle dilatation, H... |
OMIM:617751 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spas... |
ORPHA:3078 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Superficial Siderosis |
|
Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Impaired temperature sensation... |
ORPHA:247245 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi... |
ORPHA:1528 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance, Microcephaly |
ORPHA:26 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... |
ORPHA:644 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Edema, Dehydration |
ORPHA:103910 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy |
ORPHA:1466 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal ... |
OMIM:604360 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration, Microcephaly |
ORPHA:289504 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Oligohydramnios, Cerebral atrophy, Extra-axial cerebrospinal fluid ac... |
OMIM:616900 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Polyhydramnios, Microcephaly, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation... |
OMIM:225790 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:614105 |
Galloway-Mowat Syndrome 5 |
|
Periventricular leukomalacia, Ataxia, Edema, Primary microcephaly, Spasticity, Pachygyria, Ventri... |
OMIM:617731 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... |
ORPHA:897 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Microcephaly |
OMIM:618958 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Cephaloh... |
ORPHA:853 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypertonia, Tetralogy of Fallot |
ORPHA:250994 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Lateral ventricle dilatation, Hypertonia, Pulmonic stenosis, Hypoplasia of the co... |
OMIM:618914 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Vascular dilatation, Hydr... |
OMIM:220220 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Unsteady gait, Hemiparesis, Agenesis of co... |
OMIM:617542 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia, Impaired pain sensation |
ORPHA:1532 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Type... |
ORPHA:352682 |
Cog5-Cdg |
|
Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Lateral ventricle dilatati... |
ORPHA:263487 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Intracerebral periventricular calcifications, Microcephaly, Dilated cardiomyopa... |
OMIM:608836 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Cerebral Visual Impairment |
|
Cerebral palsy, Microcephaly, Hydrocephalus, Clumsiness, Intracranial hemorrhage, Abnormal cerebr... |
ORPHA:447788 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Cerebral atrophy, Dehydration, Cardiomyopathy, Limb hypertonia |
OMIM:606054 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Polyhydramnios, Megalencephaly, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Ventric... |
OMIM:613603 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Dysplastic corpus callosum, Babinski sign, Choreoathetosis, Lower lim... |
ORPHA:2524 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesi... |
OMIM:619955 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Lewy bodies, Cerebr... |
OMIM:607485 |
Enteric Anendocrinosis |
|
Portal hypertension, Dehydration |
ORPHA:83620 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... |
OMIM:620075 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Abnormal bleeding, Thick cerebral cortex, Ataxia, Wide anterior fontane... |
ORPHA:357058 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Wide anterior fontanel, Unsteady gait, Abnormal cerebral white matter morphology, Lateral... |
ORPHA:457279 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microcephaly, Inability to walk, Hydrocephalus, Abnormal left ventricular function, Cardiomyopath... |
OMIM:613155 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Familial Cold Urticaria |
|
Dysesthesia, Dehydration |
ORPHA:47045 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Probst bundles, Tricuspid regurgitation, Patent ductus arteriosus, ... |
OMIM:612863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Abnormal cerebral whi... |
OMIM:613153 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Microcephaly, Tremor, Inability to walk, Lateral ventricle dilatat... |
OMIM:619229 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv... |
OMIM:610333 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Dehydration, Abnormal globus pallidus morphology |
OMIM:251000 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:620135 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... |
OMIM:613154 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tachycardia, Tremor, Dysplastic corpus callosum, Hypoesthesia, Hemi... |
OMIM:619737 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski sign, Spastic tetrapl... |
OMIM:252650 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... |
ORPHA:163596 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Spasticity, Dehydration |
OMIM:251120 |
Hydranencephaly |
|
Ventriculomegaly, Abnormal corpus striatum morphology, Abnormal internal carotid artery morpholog... |
ORPHA:2177 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical ... |
ORPHA:2770 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Hydrocephalus, Ascites, Ventriculomegaly |
ORPHA:858 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Pulmonary embolism, Microcephaly, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... |
ORPHA:79282 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral calcification, Cerebral hemorrhage, Abnormal cerebral white matter morphology |
OMIM:618886 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Distal Deletion 10Q |
|
Ataxia, Clonus, Microcephaly, Patent ductus arteriosus, Unsteady gait, Poor fine motor coordinati... |
ORPHA:96148 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus, Dehydration |
OMIM:560000 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:272 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Cavum septum pel... |
ORPHA:464738 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation, Hypertrophic cardiom... |
OMIM:212140 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Agenesi... |
OMIM:207950 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Polyhydramnios, Lateral ventricle dilatation, Pulmonic stenosis, Hypertroph... |
OMIM:619745 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Hypopla... |
OMIM:614424 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Hogue-Janssen Syndrome 2 |
|
Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A... |
OMIM:616362 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, S... |
ORPHA:255138 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology... |
ORPHA:238722 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion... |
ORPHA:244242 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Ventriculomegaly, Cerebral atrophy |
OMIM:616430 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus, Hydrops fetalis, Cerebral atrophy, Ascites |
OMIM:269920 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Polyhydramnios, Partial agenesis of the corpus callosum, Vocal cord paralysis, Increased CSF lact... |
ORPHA:500144 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:276621 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618577 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Absent septum pellucidum, Meningocele, Abnorm... |
ORPHA:397715 |
Mosaic Trisomy 1 |
|
Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, Lateral ventricle dilatation... |
ORPHA:1692 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Abnormal pyramidal sign, Lissencephaly, Spasticity, Pol... |
OMIM:614833 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opi... |
OMIM:620352 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Ataxia, Polyhydramnios, Microcephaly, Hydrocephalus, Colpocephaly, Periventricula... |
OMIM:619833 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Dehydration |
OMIM:620125 |
Neurocutaneous Melanocytosis |
|
Meningocele, Hemiparesis, Intracranial hemorrhage, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:2481 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Polymicrogyria, Mitral regurgitation, Megalencephaly |
ORPHA:83473 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy |
ORPHA:370968 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Dehydration |
OMIM:264350 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Edema, Spastic hemiparesis, Microcephaly, Dilated cardiomyopathy, Dehydra... |
ORPHA:20 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Dehydration |
OMIM:610600 |
Neonatal Adrenoleukodystrophy |
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Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Congenital Factor X Deficiency |
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Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Focal cortical dysplasia, Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, ... |
OMIM:175780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Clonus, Microcephaly, Intraventricular hemorrhage, Spastic tetraplegia, Increased CSF lactate, Pr... |
OMIM:619055 |
Beta-Ketothiolase Deficiency |
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Ataxia, Edema, Dehydration, Hypertension, Extrapyramidal dyskinesia, Hypotension, Spasticity |
ORPHA:134 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Cerebral calcification, Facial-lingual fasciculations, Microcephaly... |
OMIM:617281 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Oculopharyngodistal Myopathy 3 |
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Pigmentary retinopathy |
OMIM:619473 |
Cystinosis |
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Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Dehydration |
ORPHA:213 |
Congenital Alpha2-Antiplasmin Deficiency |
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Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Corticosterone Methyloxidase Type I Deficiency |
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Hypotension, Dehydration |
OMIM:203400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
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Pigmentary retinopathy, Brain atrophy |
OMIM:619059 |
Hypercalcemia, Infantile, 1 |
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Dehydration |
OMIM:143880 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Cerebellar atrophy, Abnormality of retinal pigmentation |
ORPHA:3085 |
Hemophilia B |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
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Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy |
OMIM:268020 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Hydrocephalus, Periventricular leukomalacia, Microcephaly |
OMIM:618302 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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