Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
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 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Spastic paraparesis, Resting tremor, Ankle clonus, Dilated third ventricle, Babinsk... |
ORPHA:363654 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Oromotor a... |
ORPHA:300573 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... |
OMIM:604213 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Brain Small Vessel Disease 3 |
|
Leukoencephalopathy, Cerebral atrophy, Cerebral hemorrhage, Cerebral calcification, Spastic tetra... |
OMIM:618360 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Leukoencephalopathy, Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricula... |
ORPHA:284388 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Ataxia, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abno... |
OMIM:618709 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebell... |
OMIM:610951 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Somatic sensory dysfunction, Abnormal cerebral vascular morphology, ... |
ORPHA:324703 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Dural Sinus Malformation |
|
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Hypoplasia of the fron... |
ORPHA:97339 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Thick cerebra... |
ORPHA:101071 |
Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Spasticity, Subcortical band heterotopia, Agenes... |
OMIM:600348 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy |
OMIM:551500 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Lissencephaly 4 |
|
Hypertonia, Babinski sign, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpoce... |
OMIM:614019 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Leukoencephalopathy, Stroke, Recurrent subcortical infarcts, Cerebral hemorrhage, Int... |
ORPHA:136 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ventricle dilatat... |
ORPHA:306669 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Intracranial hemorrhage, Polymicrogyria, Schizencephaly, Ventriculomegaly, Spastic te... |
OMIM:614483 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... |
OMIM:615937 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... |
OMIM:613162 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy |
ORPHA:99966 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... |
ORPHA:500166 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Myoclonus, Gait disturbance, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Methanol Poisoning |
|
Basal ganglia necrosis, Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriop... |
ORPHA:31825 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Basal ganglia necrosis, Ataxia, Increased ... |
ORPHA:79243 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage |
OMIM:603285 |
Masa Syndrome |
|
Hydrocephalus, Microcephaly, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculomegaly, Lo... |
OMIM:303350 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Lissencephaly 3 |
|
Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Lissencephaly, V... |
OMIM:611603 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Multifocal cerebral white matter abnormalities, Ataxia, Stroke, Recurrent subcortica... |
ORPHA:140989 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... |
OMIM:619389 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... |
OMIM:251270 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatr... |
ORPHA:2703 |
Central Neurocytoma |
|
Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Babinski sign, Paresthesia, Ab... |
ORPHA:73256 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Truncal at... |
OMIM:220200 |
Familial Afibrinogenemia |
|
Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis |
ORPHA:98880 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Increased CSF lactate, Cerebral atrophy, Tip-toe gait, Ankle clonus, Microcep... |
ORPHA:565624 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Limb hypertonia, Hypoplasia of the corpus callos... |
ORPHA:401815 |
Masa Syndrome |
|
Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturbance, Ventriculomegaly, Agenesis of corpu... |
ORPHA:2466 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Corpus callosum atrophy, Tongue thrusting, Diffuse cerebral atrophy, Lateral ventri... |
ORPHA:77299 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Orth... |
ORPHA:2822 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Poor gross motor coordination, Cerebral palsy, Abnormal caudate nucleus morphology, Hypoplasia of... |
ORPHA:2148 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia, Lim... |
ORPHA:401820 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... |
ORPHA:79326 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Cach Syndrome |
|
Dysgyria, Cerebral atrophy, Limb ataxia, Dysmetria, Spastic diplegia, Microcephaly, Truncal ataxi... |
ORPHA:135 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Tetraparesis, Spasticity, To... |
OMIM:618276 |
Sneddon Syndrome |
|
Hemiplegia, Stroke, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Impaired distal t... |
OMIM:182410 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy |
OMIM:619090 |
Moderate Hemophilia A |
|
Joint hemorrhage, Joint swelling, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with min... |
ORPHA:169805 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Cerebral Cavernous Malformations |
|
Cerebral calcification, Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Fibronectin Glomerulopathy |
|
Hypertension, Pedal edema, Cerebral hemorrhage |
ORPHA:84090 |
Hemophilia A |
|
Joint hemorrhage, Joint swelling, Bleeding with minor or no trauma, Intracranial hemorrhage, Intr... |
ORPHA:98878 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... |
ORPHA:488627 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Cerebral calcification, Microcephaly, Polymicrogyria, Patent duct... |
OMIM:617397 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus c... |
ORPHA:178469 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Cerebral hemorrhage, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Thin co... |
OMIM:300049 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Hemiparesis, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Lissence... |
OMIM:610031 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Myoclonus, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencep... |
ORPHA:284417 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Dehydration, Edema |
OMIM:616069 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Primar... |
ORPHA:300570 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Akinesia, Microcephaly, Polyhydramnios, Ventriculomegaly, Hydranencephaly, Agenesi... |
OMIM:225790 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Abnormal basal ganglia morphology, Increas... |
ORPHA:255182 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hydrocephalus, Microcephaly, Tremor, Spastic tetraparesis, Si... |
OMIM:619470 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, ST segment depress... |
ORPHA:90065 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Dilated fourth ventric... |
ORPHA:572798 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, ... |
ORPHA:208447 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Primary microcephaly, Ventriculomegaly, Polymicrogyria |
ORPHA:171703 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... |
ORPHA:53719 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis, Cerebral atrophy, Microcephaly, Babinski sign, Abnormal pyr... |
OMIM:615599 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dehydration, Dilated cardiomyopathy |
ORPHA:79159 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Ventr... |
OMIM:608716 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subependymal nodules, Abnormal basal ganglia morphology, Ataxia, Subdural hemorrhage, Pallidal de... |
ORPHA:25 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Polyhydramnios, Later... |
ORPHA:544488 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Spasticity,... |
ORPHA:101029 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum, Episodic ataxia |
ORPHA:420179 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Hemiparesis, Aortic di... |
ORPHA:231160 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia, Lower... |
ORPHA:401830 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Microcephaly, Myoclonus, Dilated fourth ventricle, Lateral ventricle dilatation, Spas... |
ORPHA:3078 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplifi... |
OMIM:619302 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Clumsiness |
ORPHA:324422 |
Snakebite Envenomation |
|
Stroke, Pseudobulbar paralysis, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage... |
ORPHA:449285 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral calcification, Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage |
ORPHA:100006 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Spasticity |
OMIM:304100 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:250972 |
Slc35A2-Cdg |
|
Inability to walk, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c... |
ORPHA:356961 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Congenital Hydrocephalus |
|
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... |
ORPHA:2185 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Familial Multiple Nevi Flammei |
|
Hemiplegia, Arteriovenous malformation, Cerebral calcification, Intracranial hemorrhage, Arrhythm... |
ORPHA:624 |
Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... |
ORPHA:99828 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Calcificatio... |
OMIM:177850 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Cerebral calcification, Microcephaly, Myoclonus, Ventriculomegaly, Spasticity, Dan... |
OMIM:617281 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus call... |
ORPHA:488635 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Pettigrew Syndrome |
|
Hydrocephalus, Cerebral calcification, Choreoathetosis, Gait ataxia, Ventriculomegaly, Spasticity... |
OMIM:304340 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... |
ORPHA:280679 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Basal ganglia calcification, Microcephaly, Dehydration, Diffuse cerebral atrophy, Ventriculomegal... |
OMIM:214150 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Lissencephaly 5 |
|
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the corpus callosum, Type II lissencephaly, Abn... |
OMIM:615191 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Hydrocephalus, Poor fine motor coordination, Hand tre... |
ORPHA:99947 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Alexander Disease |
|
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Increased CSF protein, Spasticity |
OMIM:203450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Dehydration, Tetraparesis, Choreoathetosis, Cardiomyopathy |
ORPHA:27 |
Pyruvate Carboxylase Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Increased CSF lactate, Recurrent h... |
ORPHA:3008 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Wide anterior fontanel, Ataxia, Cavum septum pellucidum, Lateral ventricle dila... |
ORPHA:457279 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
Focal Facial Dermal Dysplasia Type Iv |
|
Microcephaly, Hydrocephalus, Hemiparesis, Intracranial hemorrhage |
ORPHA:398189 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus... |
ORPHA:2182 |
Severe Hemophilia A |
|
Joint hemorrhage, Joint swelling, Prolonged bleeding following circumcision, Persistent bleeding ... |
ORPHA:169802 |
Cog5-Cdg |
|
Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Lateral ventricle dilatation, Diffus... |
ORPHA:263487 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Acys Amyloidosis |
|
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage |
ORPHA:100008 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Cerebral atrophy, Abnormal bleeding, Microcephaly, Abnormal pyramidal sign, Abnorm... |
OMIM:300884 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Abnormal basal ganglia morphology, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis,... |
ORPHA:464321 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebral vascular morp... |
OMIM:300845 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Fried Syndrome |
|
Cerebral calcification, Spastic diplegia, Hydrocephalus, Gait disturbance |
ORPHA:85335 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Increased CSF lactate, Cerebral atrophy, Opisthotonus, Abnormal bleeding, Dehydration, Mi... |
OMIM:616271 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microcephaly, Ventriculomegaly, Spasticity, Simplified gyral pattern, Microlissencephaly, Agenesi... |
OMIM:617090 |
Narp Syndrome |
|
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... |
ORPHA:644 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hemiparesis, Chorea, Tremor, Arterial stenosis, Hypertension |
ORPHA:820 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration, Choreoathetosis, Stroke, Cardiomyopathy |
ORPHA:79312 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Ventricul... |
ORPHA:85179 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:1466 |
Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Microcephaly, Hydrocephalus |
ORPHA:26 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly |
OMIM:614870 |
Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Superficial Siderosis |
|
Arteriovenous malformation, Ataxia, Persistent bleeding after trauma, Limb ataxia, Abnormal verte... |
ORPHA:247245 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
+173470 integrin, beta-3 |
|
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... |
OMIM:173470 |
Isovaleric Acidemia |
|
Dehydration, Cerebellar hemorrhage |
OMIM:243500 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema, Hematochezia |
ORPHA:103910 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Combined Malonic And Methylmalonic Acidemia |
|
Microcephaly, Dehydration |
ORPHA:289504 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Distal Monosomy 10Q |
|
Ataxia, Poor fine motor coordination, Cavum septum pellucidum, Microcephaly, Spina bifida occulta... |
ORPHA:96148 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum, Lissencephaly, Septo-o... |
ORPHA:1528 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... |
ORPHA:79432 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Microcephaly, Dehydration |
OMIM:618958 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Truncal ataxia, Patent ductus art... |
OMIM:220220 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... |
OMIM:616900 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Cerebral palsy, Subarachnoid hemor... |
ORPHA:853 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... |
OMIM:604360 |
Enhanced S-Cone Syndrome |
|
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy |
OMIM:268100 |
Cerebral Visual Impairment |
|
Hydrocephalus, Clumsiness, Microcephaly, Intracranial hemorrhage, Cerebral palsy, Abnormal cerebr... |
ORPHA:447788 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Cerebral atrophy, Cavum septum pellucidum, Dilated third ventricle, Microcepha... |
ORPHA:464738 |
Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:774 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dilation of ... |
OMIM:619955 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Basal ganglia cysts, Microcephaly, Arrhythmia, Polymicrogyria... |
OMIM:608836 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Impaired pain sensation, Ataxia |
ORPHA:1532 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Occipi... |
ORPHA:352682 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ataxia, Rigidity, Abnormal cerebral white matter morphology, Abnormal periventricu... |
OMIM:618476 |
Frontal Encephalocele |
|
Hydrocephalus, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Hemiparesis, Unsteady gait, Agenesis of co... |
OMIM:617542 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Mosaic Trisomy 1 |
|
Coarctation of aorta, Polymicrogyria, Pulmonary artery atresia, Polyhydramnios, Lateral ventricle... |
ORPHA:1692 |
1Q21.1 Microduplication Syndrome |
|
Hypertonia, Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251915 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Enteric Anendocrinosis |
|
Dehydration, Portal hypertension |
ORPHA:83620 |
Hydranencephaly |
|
Cerebral cortical atrophy, Opisthotonus, Abnormal internal carotid artery morphology, Spastic dip... |
ORPHA:2177 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal basal ganglia morphology, Colpocephaly, Open operculum, Dilated third ventricle, Lateral... |
ORPHA:397715 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Wide anterior fontanel, Dysplastic corpus callosum, Ataxia, Inability to walk, Abnormal bleeding,... |
ORPHA:357058 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Type II lissencephaly, Abnormal cerebral white matter morphology, Agyria, Lissence... |
OMIM:613153 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Familial Cold Urticaria |
|
Dysesthesia, Dehydration |
ORPHA:47045 |
Erythrocytosis, Familial, 2 |
|
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:791 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia |
OMIM:263300 |
Propionic Acidemia |
|
Cerebral atrophy, Cerebellar hemorrhage, Dehydration, Limb hypertonia, Cardiomyopathy |
OMIM:606054 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Babinski sign, Abnormal cortical gyration, Hypoplasia of the corpus c... |
ORPHA:2524 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Ventriculomegaly, Spasticity, Progressiv... |
OMIM:610333 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Abnormal globus pallidus morphology, Dehydration, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Spastic tetrapl... |
OMIM:252650 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cortical dysplasia, Type II lissencephaly, Ventriculomegaly, Spastici... |
OMIM:615287 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Hypertension |
OMIM:133100 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Pulmonary edema, Cerebral hemorrhage, Diffuse... |
ORPHA:90068 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
Pseudo-Torch Syndrome 3 |
|
Cerebral calcification, Abnormal cerebral white matter morphology, Cerebral hemorrhage, Hypertension |
OMIM:618886 |
Fetal Akinesia Syndrome, X-Linked |
|
Polyhydramnios, Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Leukoencephalopathy, Hydrocephalus, Ataxia, Stroke, Cerebral atrophy, Subdural hemorrhage, Poor f... |
ORPHA:79282 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive heart f... |
ORPHA:163596 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Tachycardia, ... |
OMIM:619737 |
Nasu-Hakola Disease |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification, Chorea, Ventriculomegaly, Spast... |
ORPHA:2770 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Cortical... |
ORPHA:1136 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Ascites |
ORPHA:858 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
Familial Congenital Mirror Movements |
|
Clumsiness, Poor fine motor coordination, Morphological abnormality of the corticospinal tract, C... |
ORPHA:238722 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Myoclonus, Ataxia |
OMIM:560000 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration, Spasticity |
OMIM:251120 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Oculomotor apraxia |
OMIM:619111 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Ataxia, Periventricular leukomalacia, Microcephaly, Cerebral palsy, Polyhydramnios... |
OMIM:619833 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tract hypoplasia,... |
ORPHA:255138 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Type II lissencephaly, Gait disturbance, Dilated cardiomyopathy, Ventriculomegaly,... |
ORPHA:272 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Hypercalcemia, Infantile, 1 |
|
Pulmonic stenosis, Dehydration, Aortic valve stenosis |
OMIM:143880 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Spina bifida, Agenesis of corpus callosum,... |
OMIM:207950 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Inability to walk, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, V... |
OMIM:616362 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, General... |
ORPHA:244242 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cerebral atrophy, Hydrops fetalis, Ascites, Congestive heart failure |
OMIM:269920 |
Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Cystinosis |
|
Motor stereotypy, Dehydration, Abnormal pyramidal sign, Gait disturbance, Portal hypertension |
ORPHA:213 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Wide anterior fontanel, Basal ganglia cysts, Pulmonary arterial hypertension, Lymphedema, Patent ... |
OMIM:613623 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy |
ORPHA:370968 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microcephaly, Abnormal pyramidal sign, Polymicrogyria, Lissencephaly,... |
OMIM:614833 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Increased CSF lactate, Cerebral cortical atrophy, Myoclonus, Vocal cord paralysis, Partial agenes... |
ORPHA:500144 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... |
ORPHA:5 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... |
OMIM:609033 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618577 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cerebellar atrophy |
ORPHA:3085 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Brain atrophy, Pigmentary retinopathy |
OMIM:619059 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Hemiparesis, Ventriculomegaly, Meningocele, Dandy-Walker malformation |
ORPHA:2481 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemiplegia, Leukoencephalopathy, Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, ... |
OMIM:175780 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Megalencephaly, Mitral regurgitation, Hydrocephalus, Polymicrogyria |
ORPHA:83473 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Dehydration |
OMIM:610600 |
Cone-Rod Dystrophy 6 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Age... |
OMIM:218350 |
Choreoacanthocytosis |
|
Frontal cortical atrophy, Falls, Chorea, Slurred speech, Hypertonia, Loss of ambulation, Resting ... |
ORPHA:2388 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Extrapyramidal dyskinesia, Dehydration, Hypotension, Spasticity, Edema, Hypertension |
ORPHA:134 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Hydrocephalus, Periventricular leukomalacia |
OMIM:618302 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Spastic tetraplegia, Congestive heart failure |
OMIM:300886 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus c... |
ORPHA:2512 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration, Hypotension |
OMIM:203400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Increased CSF lactate, Microcephaly, Intraventricular hemorrhage, Myoclonus, Spastic tetraplegia,... |
OMIM:619055 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukoencephalopathy, Ataxia, Spastic hemiparesis, Microcephaly, Dehydration, Myoclonus, Hypotensi... |
ORPHA:20 |
Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, Hydrocephalus, Peripheral arteriovenous fistula, Chylothorax, High-ou... |
ORPHA:137667 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Patent ductus arteriosus, Hypoplasia of the corpus callosum |
ORPHA:1516 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Achondroplasia |
|
Megalencephaly, Hydrocephalus |
OMIM:100800 |
Leigh Syndrome |
|
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy |
OMIM:256000 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Polyhydramnios, Microlissencephaly, Akinesia, Agenesis of corpus callosum |
OMIM:601160 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites |
ORPHA:284227 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration, Hypotension |
OMIM:264350 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Microcephaly, Dehydration, Lissencephaly, Oligohydramnios |
OMIM:208085 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... |
ORPHA:465 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly, Megalencephaly |
OMIM:602501 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:2518 |
Fetal Gaucher Disease |
|
Hypertonia, Intracranial hemorrhage, Hydrops fetalis |
ORPHA:85212 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Abnormal T-wave, Oculomotor apraxia, Dehydration, Abnormal pyramidal sign, Arrhythmia, Ri... |
ORPHA:2131 |
Harlequin Ichthyosis |
|
Dehydration, Sudden cardiac death |
ORPHA:457 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Microcephaly, Abnormal pyramidal sign, Dilated fourth ventricle, Polymicrogyria, T... |
ORPHA:370959 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration |
OMIM:602199 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Patent ductus arteriosus |
ORPHA:290 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Thin corpus callosum, Hydrocephalus, Cerebral atrophy |
OMIM:616521 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Dehydration, Hypotension |
ORPHA:556030 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Ataxia, Cerebral atrophy, Abnormal periventricular white matter morphology, Ventri... |
OMIM:272200 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Polyhydramnios, Patent ductus arteriosus, Ventriculomegaly, Enc... |
ORPHA:93274 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Microcephaly, Stereotypical hand wringing, Hypoplasia of the corpus c... |
OMIM:619179 |
Krabbe Disease |
|
Hypertonia, Hydrocephalus, Decerebrate rigidity, Progressive spasticity, Diffuse cerebral atrophy... |
OMIM:245200 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Petechiae, Ataxia, Cherry red spot of the macula, Dysmetria, Myoclonus, Abnormal E... |
ORPHA:93400 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Lateral ventricle dilatation, Patent d... |
ORPHA:177907 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Lymphedema, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy |
OMIM:613156 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral pattern, Colpocephaly |
OMIM:615219 |
Medulloblastoma |
|
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Cerebellar hemorrhage, Intention... |
ORPHA:616 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Oligohydramnios, Agenesis of corpus callosum |
OMIM:616854 |
Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Spastic gait |
OMIM:249630 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ataxia, Stroke, Upper motor neuron dysfunction, Spastic paraparesis, Microcephaly,... |
ORPHA:395 |
Arachnoid Cyst |
|
Paraparesis, Hydrocephalus, Inability to walk, Holoprosencephaly, Subarachnoid hemorrhage, Hemipa... |
ORPHA:2356 |
Riddle Syndrome |
|
Ataxia, Clumsiness, Microcephaly, Intraventricular hemorrhage, Conjunctival telangiectasia, Gait ... |
ORPHA:420741 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hypotension |
OMIM:177735 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
L1 Syndrome |
|
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Gait disturbance, Spasticity |
ORPHA:275543 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Colpocephaly, Polymicrogyria |
OMIM:618731 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Hypertonia, Microcephaly, Palpebral edema, Limb hypertonia, Nonprogressive cerebellar ataxia, Pri... |
ORPHA:466688 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Microcephaly, Dehydration, Difficulty walking, Ascites |
ORPHA:1667 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, Ventriculomegaly, C... |
OMIM:618619 |
Vascular Hyalinosis |
|
Cerebral calcification, Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Hemiparesis, Vasculitis, Cerebral ischemia, Total anomalous pulm... |
ORPHA:494424 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Increased CSF lactate, Hypertonia |
OMIM:604273 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypertonia, Hydrocephalus, Ataxia, Cerebral atrophy, Opisthotonus, Myoclonus, Hypoplasia of the c... |
OMIM:614969 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Aortic regurgitation, Gait disturbance |
ORPHA:2181 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum |
OMIM:601016 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Wide anterior fontanel, Hypoplasia of the corpus callosum, Megalencephaly, Pulmona... |
OMIM:616482 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|