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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Ventriculomegaly, Hydrocephalus OMIM:236600
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
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
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Band Heterotopia
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... OMIM:600348
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Intracerebral periventricular calcifications, Cerebral hemorrhag... ORPHA:542310
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Hand tremor, Periventricular leuko... OMIM:615889
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... ORPHA:300573
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Paresthesia, Cerebral ischemia, Str... ORPHA:36382
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... OMIM:610951
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Somatic sensory dysfunction, Paresthesia, Stroke, Cerebral... ORPHA:324703
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly, Polyhy... OMIM:618266
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly OMIM:615938
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Lateral ventricle dilatation, Hemiparesis, Cortical dysplasia, Thick cerebra... ORPHA:101071
Dural Sinus Malformation
Myelopathy, Somatic sensory dysfunction, Abnormal facial vein morphology, Tetraparesis, Subdural ... ORPHA:97339
Reversible Cerebral Vasoconstriction Syndrome
Leukoencephalopathy, Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebra... ORPHA:284388
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Ataxia, Corti... OMIM:618709
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Leukoencephalopathy, Spasticity, Recurrent subcortical infarcts, Hemiplegia, Transient ischemic a... ORPHA:136
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Lissencephaly 4
Agenesis of corpus callosum, Babinski sign, Colpocephaly, Primary microcephaly, Hypertonia, Lisse... OMIM:614019
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cor... ORPHA:306669
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy OMIM:551500
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Brain Small Vessel Disease 2
Ventriculomegaly, Polymicrogyria, Hemiplegia, Porencephalic cyst, Schizencephaly, Intracranial he... OMIM:614483
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda... OMIM:620317
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Myoclonus, Stroke, Gait disturbance, Cerebral hemorrhage ORPHA:324708
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Pineocytoma
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric... OMIM:607596
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Paresthesia, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recu... OMIM:605714
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Cerebral calcification, Hemiplegia/hemiparesis, Hydrocephalus, Ataxia ORPHA:99966
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage OMIM:603285
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,... OMIM:613162
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Ascites, Cerebral hemorrhage, Cer... OMIM:617397
Methanol Poisoning
Abnormal corpus callosum morphology, Basal ganglia necrosis, Bilateral basal ganglia lesions, Inf... ORPHA:31825
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Spasticity, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Microcephaly, Partial... OMIM:619517
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Recurrent subcortical infarcts, Cerebral vasculitis, Tetrapar... ORPHA:140989
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Masa Syndrome
Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Mi... OMIM:303350
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Progressive spasticity, Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Corpus callos... OMIM:619389
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... OMIM:617668
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia ca... OMIM:221770
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph... ORPHA:2703
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abn... OMIM:251270
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Gait d... ORPHA:2466
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Spastic diplegia OMIM:619420
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:401815
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage ORPHA:98880
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert... OMIM:618890
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventr... OMIM:220200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno... OMIM:613443
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calcification, B... ORPHA:73256
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Inability to walk, Gait ataxia, Pleural effusion, Hypoplasia of the... OMIM:618606
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy,... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcep... OMIM:617854
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Tetraparesis, Inability to walk, Dysplastic corpus callosum, M... OMIM:618276
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cach Syndrome
Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Oligohydramnios, Dysgyri... ORPHA:135
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus... ORPHA:401820
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Corpus callosum... ORPHA:77299
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdur... OMIM:618291
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Spasticity, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortica... OMIM:614039
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Involuntary movements, Tip-toe gait, Lateral ventricle dilat... ORPHA:565624
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Sneddon Syndrome
Hemiplegia, Ischemic stroke, Tremor, Stroke, Impaired distal tactile sensation, Cerebral hemorrha... OMIM:182410
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Lissencephaly 3
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... OMIM:611603
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Cerebral calcification OMIM:116860
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... ORPHA:98878
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Stroke, Cerebral hemorrhage, Thin corpus callosum, Patent duct... OMIM:300049
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated fourth ventricle, Primary microcep... OMIM:615771
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent... OMIM:616540
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Myoclonus, Hypoplasia of the corpus callosum, Cerebral white matter... ORPHA:284417
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral... OMIM:617296
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation, Poor fine motor coordination OMIM:618330
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Oligohydramnios, Microcephaly, Li... OMIM:614219
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, C... OMIM:620371
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Myoclonus, Opisthoton... OMIM:619847
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Tetraparesis, Periventri... ORPHA:255182
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Age... OMIM:610245
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... ORPHA:90065
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Lateral ventricle dilatation, Inability to walk, Microcephaly, Thin corpus... OMIM:615716
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Lateral ventricle dilatation, Lymphedema, Inability to walk, Abnormal ... ORPHA:2822
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Ventriculomegaly, Edema, Agenesis of corpus callosum OMIM:616570
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocepha... OMIM:619470
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Partial agenesis of the corpus callosum, ... OMIM:619302
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy, Dehydration ORPHA:79159
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the co... OMIM:615599
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Spasticity, Lateral ventricle dilatation, Hypoplasia of the c... ORPHA:208447
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Cerebral palsy, Secondary microce... ORPHA:2148
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Oculomotor apraxia, Ataxia, Thin ... OMIM:608629
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Kleeblattschaedel
Hydrocephalus OMIM:148800
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Subdural... ORPHA:25
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga... ORPHA:488627
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos... ORPHA:401830
Lissencephaly Due To Tuba1A Mutation
Spasticity, Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ven... ORPHA:171680
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Chronic Hiccup
Dehydration ORPHA:396
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology ORPHA:324422
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Hydrocephalus, Congenital, X-Linked
Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi... OMIM:307000
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Spasticity, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Par... OMIM:304100
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:618736
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Pseu... ORPHA:449285
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Agenesis of corpus callosum, Clumsiness, Babinski sign, Oculomotor apraxi... ORPHA:453521
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Spastic tetraplegia, Simplified gyral pat... OMIM:619301
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Inability to walk, Secondary microcephaly, Hypoplasia of th... OMIM:618174
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral calcification, Cerebral amyloid angiopathy ORPHA:100006
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage, Aplasia/Hypoplasia of the cor... ORPHA:401986
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Calcification of falx cerebr... OMIM:177850
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Subependymal cysts, Multifoca... OMIM:600721
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Coarctation of aorta, Hypertension, Dehydration OMIM:616069
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Hemiplegia, Cerebral calcification, Hemiparesis, ... ORPHA:624
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Cerebral atr... ORPHA:572798
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Polymicrogyria, Inability to walk, Type II lissencephal... ORPHA:300570
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ... ORPHA:99947
Cerebrooculofacioskeletal Syndrome 1
Ventriculomegaly, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atro... OMIM:214150
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... OMIM:616602
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Ventriculomegaly, Cerebral atrophy, Incoordination, Increased CSF lactate, Increased ... OMIM:616034
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis, Dehydration ORPHA:27
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Cerebral atrophy, Abnormality of extrapyramidal motor function, Microcephaly, ... OMIM:300884
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasia of the corpus call... ORPHA:488635
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc... ORPHA:2182
Lissencephaly 5
Leukoencephalopathy, Spastic paraplegia, Occipital encephalocele, Type II lissencephaly, Hypoplas... OMIM:615191
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Spasticity, Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ventricle dilatati... ORPHA:544488
Alexander Disease
Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,... OMIM:203450
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Bradycardia, Decreased CSF gluta... OMIM:610015
Aicardi-Goutieres Syndrome 9
Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Ascites, Basal ganglia calcification,... OMIM:619487
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Intracranial hemorrhage, Hydrocephalus, Hemiparesis ORPHA:398189
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Lateral ventricle dilatation, Distal sensory impairment, Abnormal pyramidal s... OMIM:256850
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... ORPHA:2185
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Stroke, Cardiomyopathy, Choreoathetosis, Dehydration ORPHA:79312
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Slc35A2-Cdg
Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Tetralogy of Fallot, Hypoplasi... ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Alexander Disease Type I
Spasticity, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal sign, Abnormal cerebra... ORPHA:363717
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Episodic ataxia ORPHA:420179
Fried Syndrome
Cerebral calcification, Gait disturbance, Hydrocephalus, Spastic diplegia ORPHA:85335
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Abnormal bleeding, Cerebral atrophy, Congestive heart failure, Increased CSF lactate,... OMIM:616271
Sneddon Syndrome
Chorea, Arterial stenosis, Tremor, Hemiparesis, Intracranial hemorrhage, Hypertension ORPHA:820
Pyruvate Carboxylase Deficiency
Ventriculomegaly, Tip-toe gait, Increased CSF citrulline concentration, Subependymal cysts, Incre... ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ... OMIM:617751
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ankle clonus, Frequent f... OMIM:619995
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro... ORPHA:644
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, Myoclonus, Microcephaly, Hype... ORPHA:3078
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Glutaric Acidemia I
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Choreoathetosis, Spastic dip... OMIM:231670
Superficial Siderosis
Arteriovenous malformation, Abnormal pyramidal sign, Ataxia, Unsteady gait, Abnormal cerebrospina... ORPHA:247245
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Septo-optic dysp... ORPHA:1528
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Gait disturbance, Hydrocephalus ORPHA:26
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Dehydration, Edema ORPHA:103910
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ... OMIM:604360
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Combined Malonic And Methylmalonic Acidemia
Microcephaly, Dehydration ORPHA:289504
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... ORPHA:816
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral atrophy, Small basal gan... OMIM:616900
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Akinesia, Agenesis of corpus callosum, Microce... OMIM:225790
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Cerebral palsy, Petechiae,... ORPHA:853
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Galloway-Mowat Syndrome 5
Spasticity, Ventriculomegaly, Periventricular leukomalacia, Primary microcephaly, Ataxia, Pachygy... OMIM:617731
Gómez-López-Hernández Syndrome
Hydrocephalus, Impaired pain sensation, Ataxia ORPHA:1532
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Combined Oxidative Phosphorylation Deficiency 47
Microcephaly, Dehydration OMIM:618958
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Cerebral palsy, Hypoplasia of the corpus callosum, Hypertonia, Pulm... OMIM:618914
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus, Hypertonia ORPHA:250994
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Hemiparesis, Hydrocephalus, Unsteady gait, Abnormality of the anteri... OMIM:617542
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Autosomal Recessive Cutis Laxa Type 2A
Spasticity, Abnormal bleeding, Inability to walk, Secondary microcephaly, Dilated fourth ventricl... ORPHA:357058
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:614105
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Cog5-Cdg
Lateral ventricle dilatation, Oligohydramnios, Diffuse cerebral atrophy, Cerebral white matter at... ORPHA:263487
Pontocerebellar Hypoplasia Type 2
Spasticity, Abnormal cortical gyration, Ventriculomegaly, Upper limb hypertonia, Hypoplasia of th... ORPHA:2524
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Enteric Anendocrinosis
Portal hypertension, Dehydration ORPHA:83620
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morpholo... ORPHA:352682
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Propionic Acidemia
Cerebral atrophy, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Dehydration OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Dilated cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifica... OMIM:608836
Cerebral Visual Impairment
Focal cortical dysplasia, Cerebral palsy, Ischemic stroke, Clumsiness, Microcephaly, Oculomotor a... ORPHA:447788
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Cardiomyopathy, Inability to walk, Hypoplasia of the corpus callosum, M... OMIM:613155
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Va... OMIM:220220
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios, Megal... OMIM:613603
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Dysplastic corpus callosum, Microc... OMIM:619955
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cavum septum pellucidum, Abnor... ORPHA:457279
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Ap... OMIM:607485
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Lateral ventricle dilatation, Thin corpus callosum, Parieta... OMIM:620075
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Oligohydramnios, Periventricular leukomalacia, Abnormal caudate nuc... ORPHA:293725
Familial Cold Urticaria
Dysesthesia, Dehydration ORPHA:47045
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Abnormal cerebral white mat... OMIM:613153
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Tricuspid regurgitation, Probst bundles, Agenesis of corpus callosu... OMIM:612863
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:620135
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Hydranencephaly
Cerebral cortical atrophy, Ventriculomegaly, Abnormal corpus striatum morphology, Dilatation of t... ORPHA:2177
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Secondary microcep... OMIM:619229
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Familial Renal Glucosuria
Dehydration ORPHA:69076
Aicardi-Goutieres Syndrome 4
Spasticity, Ventriculomegaly, Cerebral atrophy, Cerebral calcification, CSF lymphocytic pleiocyto... OMIM:610333
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Mucolipidosis Iv
Dysplastic corpus callosum, Babinski sign, Microcephaly, Spastic tetraplegia, Cerebral dysmyelina... OMIM:252650
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Dehydration OMIM:251120
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Secondary microcephaly, Periventricular white matter hyperintensiti... OMIM:619737
Reticular Dysgenesis
Dehydration ORPHA:33355
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica... ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Nasu-Hakola Disease
Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Cerebral calcification, Chorea, Oculomot... ORPHA:2770
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Congenital Toxoplasmosis
Ventriculomegaly, Ascites, Cerebral calcification, Microcephaly, Hydrocephalus ORPHA:858
Pseudo-Torch Syndrome 3
Abnormal cerebral white matter morphology, Cerebral calcification, Hypertension, Cerebral hemorrhage OMIM:618886
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Dehydration, Ataxia OMIM:560000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Poor fine motor coordination, Pulmonary embolism, Subdural hemorrhage, Dilat... ORPHA:79282
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Difficulty w... ORPHA:464738
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Abnormal globus pallidus morphology, Cerebellar hemorrhage, Cardiomyopathy, Dehydration OMIM:251000
Familial Congenital Mirror Movements
Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,... ORPHA:238722
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Cocaine Intoxication
Involuntary movements, Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS... ORPHA:90068
Distal Deletion 10Q
Spasticity, Lateral ventricle dilatation, Cavum septum pellucidum, Microcephaly, Oculomotor aprax... ORPHA:96148
Coach Syndrome 2
Oculomotor apraxia, Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation, Dehy... OMIM:212140
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Opisthotonus, Hydrocephalus, ... OMIM:207950
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus callosum, Type II liss... ORPHA:272
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co... OMIM:300952
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Houge-Janssens Syndrome 2
Ventriculomegaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:616362
Joubert Syndrome 14
Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Meningocele, Ataxia, Intracrania... OMIM:614424
Noonan Syndrome 14
Aortic regurgitation, Bruising susceptibility, Lateral ventricle dilatation, Hypertrophic cardiom... OMIM:619745
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomal... ORPHA:255138
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Central Diabetes Insipidus
Dehydration ORPHA:178029
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Intraventricular hemorrhage, Cerebral atrophy OMIM:616430
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Congestive heart failure, Ascites, Hydrocephalus, Hydrops fetalis OMIM:269920
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Open operculum, L... ORPHA:397715
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Secondary microcephaly, Increased CSF la... ORPHA:500144
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... ORPHA:5
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Mosaic Trisomy 1
Lateral ventricle dilatation, Polymicrogyria, Increased nuchal translucency, Agenesis of corpus c... ORPHA:1692
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation, Megalencephaly, Polymicrogyria ORPHA:83473
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Reduced cerebral white matter volume, Ventriculomegaly, Secondary microcep... OMIM:620352
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy ORPHA:370968
Beta-Ketothiolase Deficiency
Spasticity, Hypotension, Edema, Extrapyramidal dyskinesia, Ataxia, Hypertension, Dehydration ORPHA:134
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Dehydration OMIM:620125
3-Hydroxy-3-Methylglutaric Aciduria
Leukoencephalopathy, Spasticity, Hypotension, Dilated cardiomyopathy, Dehydration, Myoclonus, Spa... ORPHA:20
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Cerebral palsy, Periventricular leukomalacia, Microcephaly, Colpocephaly, Hydro... OMIM:619833
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Developmental And Epileptic Encephalopathy 49
Spasticity, Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Myoclonus, Dys... OMIM:617281
Neurocutaneous Melanocytosis
Ventriculomegaly, Hemiparesis, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation ORPHA:2481
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Leukoencephalopathy, Spasticity, Facial paralysis, Dilation of Virchow-Robin spaces, Focal cortic... OMIM:175780
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Myoclonus, Microcephaly, Intraventricular hemorrhage, Clonus, Prolonged pr... OMIM:619055
Cystinosis
Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Dehydration ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy OMIM:268020
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Dehydration OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Dehydration OMIM:264350
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly... OMIM:614833