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Gene: Msi1 MGI:107376

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
musashi RNA-binding protein 1
Synonyms:
m-Msi-1,  Musahi1,  Msi1,  Msi1h

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Msi1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Msi1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Posterior Column Ataxia With Retinitis Pigmentosa
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
Focal cortical dysplasia, Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, ... OMIM:175780
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Microcephaly, Intraventricular hemorrhage, Spastic tetraplegia, Increased CSF lactate, Pr... OMIM:619055
Beta-Ketothiolase Deficiency
Ataxia, Edema, Dehydration, Hypertension, Extrapyramidal dyskinesia, Hypotension, Spasticity ORPHA:134
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebral calcification, Facial-lingual fasciculations, Microcephaly... OMIM:617281
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Cystinosis
Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Dehydration ORPHA:213
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Dehydration OMIM:203400
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Periventricular leukomalacia, Microcephaly OMIM:618302
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss