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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 With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Spastic paraparesis, Resting tremor, Ankle clonus, Dilated third ventricle, Babinsk... ORPHA:363654
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Oromotor a... ORPHA:300573
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... OMIM:604213
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Brain Small Vessel Disease 3
Leukoencephalopathy, Cerebral atrophy, Cerebral hemorrhage, Cerebral calcification, Spastic tetra... OMIM:618360
Reversible Cerebral Vasoconstriction Syndrome
Leukoencephalopathy, Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricula... ORPHA:284388
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Ataxia, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abno... OMIM:618709
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebell... OMIM:610951
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Somatic sensory dysfunction, Abnormal cerebral vascular morphology, ... ORPHA:324703
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Dural Sinus Malformation
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Hypoplasia of the fron... ORPHA:97339
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Thick cerebra... ORPHA:101071
Band Heterotopia
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Spasticity, Subcortical band heterotopia, Agenes... OMIM:600348
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Lissencephaly 4
Hypertonia, Babinski sign, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpoce... OMIM:614019
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Leukoencephalopathy, Stroke, Recurrent subcortical infarcts, Cerebral hemorrhage, Int... ORPHA:136
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ventricle dilatat... ORPHA:306669
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Brain Small Vessel Disease 2
Hemiplegia, Intracranial hemorrhage, Polymicrogyria, Schizencephaly, Ventriculomegaly, Spastic te... OMIM:614483
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... OMIM:615937
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... OMIM:613162
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy ORPHA:99966
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Myoclonus, Gait disturbance, Abnormal cerebral vascular morphology ORPHA:324708
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Methanol Poisoning
Basal ganglia necrosis, Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriop... ORPHA:31825
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Basal ganglia necrosis, Ataxia, Increased ... ORPHA:79243
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage OMIM:603285
Masa Syndrome
Hydrocephalus, Microcephaly, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculomegaly, Lo... OMIM:303350
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Lissencephaly 3
Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Lissencephaly, V... OMIM:611603
Primary Angiitis Of The Central Nervous System
Paraparesis, Multifocal cerebral white matter abnormalities, Ataxia, Stroke, Recurrent subcortica... ORPHA:140989
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... OMIM:619389
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatr... ORPHA:2703
Central Neurocytoma
Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Babinski sign, Paresthesia, Ab... ORPHA:73256
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Dandy-Walker Syndrome
Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Truncal at... OMIM:220200
Familial Afibrinogenemia
Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis ORPHA:98880
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Increased CSF lactate, Cerebral atrophy, Tip-toe gait, Ankle clonus, Microcep... ORPHA:565624
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Limb hypertonia, Hypoplasia of the corpus callos... ORPHA:401815
Masa Syndrome
Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturbance, Ventriculomegaly, Agenesis of corpu... ORPHA:2466
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Corpus callosum atrophy, Tongue thrusting, Diffuse cerebral atrophy, Lateral ventri... ORPHA:77299
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Orth... ORPHA:2822
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Poor gross motor coordination, Cerebral palsy, Abnormal caudate nucleus morphology, Hypoplasia of... ORPHA:2148
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia, Lim... ORPHA:401820
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Cach Syndrome
Dysgyria, Cerebral atrophy, Limb ataxia, Dysmetria, Spastic diplegia, Microcephaly, Truncal ataxi... ORPHA:135
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Tetraparesis, Spasticity, To... OMIM:618276
Sneddon Syndrome
Hemiplegia, Stroke, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Impaired distal t... OMIM:182410
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with min... ORPHA:169805
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Cerebral Cavernous Malformations
Cerebral calcification, Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Hemophilia A
Joint hemorrhage, Joint swelling, Bleeding with minor or no trauma, Intracranial hemorrhage, Intr... ORPHA:98878
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... ORPHA:488627
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Cerebral calcification, Microcephaly, Polymicrogyria, Patent duct... OMIM:617397
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus c... ORPHA:178469
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Periventricular Nodular Heterotopia 1
Stroke, Cerebral hemorrhage, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Thin co... OMIM:300049
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Hemiparesis, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Lissence... OMIM:610031
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencep... ORPHA:284417
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Dehydration, Edema OMIM:616069
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Primar... ORPHA:300570
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Akinesia, Microcephaly, Polyhydramnios, Ventriculomegaly, Hydranencephaly, Agenesi... OMIM:225790
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Abnormal basal ganglia morphology, Increas... ORPHA:255182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hydrocephalus, Microcephaly, Tremor, Spastic tetraparesis, Si... OMIM:619470
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, ST segment depress... ORPHA:90065
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Dilated fourth ventric... ORPHA:572798
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Bilateral Generalized Polymicrogyria
Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, ... ORPHA:208447
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Primary microcephaly, Ventriculomegaly, Polymicrogyria ORPHA:171703
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... ORPHA:53719
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis, Cerebral atrophy, Microcephaly, Babinski sign, Abnormal pyr... OMIM:615599
Kleeblattschaedel
Hydrocephalus OMIM:148800
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dehydration, Dilated cardiomyopathy ORPHA:79159
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Ventr... OMIM:608716
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Abnormal basal ganglia morphology, Ataxia, Subdural hemorrhage, Pallidal de... ORPHA:25
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Polyhydramnios, Later... ORPHA:544488
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Spasticity,... ORPHA:101029
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum, Episodic ataxia ORPHA:420179
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Hemiparesis, Aortic di... ORPHA:231160
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... ORPHA:453521
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia, Lower... ORPHA:401830
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Microcephaly, Myoclonus, Dilated fourth ventricle, Lateral ventricle dilatation, Spas... ORPHA:3078
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Chronic Hiccup
Dehydration ORPHA:396
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplifi... OMIM:619302
Lissencephaly, X-Linked, 1
Ataxia, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum OMIM:300067
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Spastic paraplegia, Corticospinal t... OMIM:307000
Alg13-Cdg
Abnormal lateral ventricle morphology, Clumsiness ORPHA:324422
Snakebite Envenomation
Stroke, Pseudobulbar paralysis, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage... ORPHA:449285
Abeta Amyloidosis, Dutch Type
Cerebral calcification, Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage ORPHA:100006
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Spasticity OMIM:304100
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Slc35A2-Cdg
Inability to walk, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c... ORPHA:356961
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... ORPHA:2185
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Familial Multiple Nevi Flammei
Hemiplegia, Arteriovenous malformation, Cerebral calcification, Intracranial hemorrhage, Arrhythm... ORPHA:624
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... ORPHA:99828
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Calcificatio... OMIM:177850
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Cerebral calcification, Microcephaly, Myoclonus, Ventriculomegaly, Spasticity, Dan... OMIM:617281
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus call... ORPHA:488635
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Pettigrew Syndrome
Hydrocephalus, Cerebral calcification, Choreoathetosis, Gait ataxia, Ventriculomegaly, Spasticity... OMIM:304340
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... ORPHA:280679
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Cerebrooculofacioskeletal Syndrome 1
Basal ganglia calcification, Microcephaly, Dehydration, Diffuse cerebral atrophy, Ventriculomegal... OMIM:214150
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Lissencephaly 5
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the corpus callosum, Type II lissencephaly, Abn... OMIM:615191
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hydrocephalus, Poor fine motor coordination, Hand tre... ORPHA:99947
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Alexander Disease
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Increased CSF protein, Spasticity OMIM:203450
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Dehydration, Tetraparesis, Choreoathetosis, Cardiomyopathy ORPHA:27
Pyruvate Carboxylase Deficiency
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Increased CSF lactate, Recurrent h... ORPHA:3008
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Wide anterior fontanel, Ataxia, Cavum septum pellucidum, Lateral ventricle dila... ORPHA:457279
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus, Hemiparesis, Intracranial hemorrhage ORPHA:398189
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus... ORPHA:2182
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Prolonged bleeding following circumcision, Persistent bleeding ... ORPHA:169802
Cog5-Cdg
Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Lateral ventricle dilatation, Diffus... ORPHA:263487
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Acys Amyloidosis
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage ORPHA:100008
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Cerebral atrophy, Abnormal bleeding, Microcephaly, Abnormal pyramidal sign, Abnorm... OMIM:300884
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Abnormal basal ganglia morphology, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis,... ORPHA:464321
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebral vascular morp... OMIM:300845
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Fried Syndrome
Cerebral calcification, Spastic diplegia, Hydrocephalus, Gait disturbance ORPHA:85335
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Increased CSF lactate, Cerebral atrophy, Opisthotonus, Abnormal bleeding, Dehydration, Mi... OMIM:616271
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Ventriculomegaly, Spasticity, Simplified gyral pattern, Microlissencephaly, Agenesi... OMIM:617090
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... ORPHA:644
Sneddon Syndrome
Intracranial hemorrhage, Hemiparesis, Chorea, Tremor, Arterial stenosis, Hypertension ORPHA:820
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Choreoathetosis, Stroke, Cardiomyopathy ORPHA:79312
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Ventricul... ORPHA:85179
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Microcephaly, Hydrocephalus ORPHA:26
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Superficial Siderosis
Arteriovenous malformation, Ataxia, Persistent bleeding after trauma, Limb ataxia, Abnormal verte... ORPHA:247245
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Hematochezia ORPHA:103910
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Combined Malonic And Methylmalonic Acidemia
Microcephaly, Dehydration ORPHA:289504
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Distal Monosomy 10Q
Ataxia, Poor fine motor coordination, Cavum septum pellucidum, Microcephaly, Spina bifida occulta... ORPHA:96148
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum, Lissencephaly, Septo-o... ORPHA:1528
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Combined Oxidative Phosphorylation Deficiency 47
Microcephaly, Dehydration OMIM:618958
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Truncal ataxia, Patent ductus art... OMIM:220220
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:616900
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Cerebral palsy, Subarachnoid hemor... ORPHA:853
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:604360
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Cerebral Visual Impairment
Hydrocephalus, Clumsiness, Microcephaly, Intracranial hemorrhage, Cerebral palsy, Abnormal cerebr... ORPHA:447788
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cerebral atrophy, Cavum septum pellucidum, Dilated third ventricle, Microcepha... ORPHA:464738
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dilation of ... OMIM:619955
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Basal ganglia cysts, Microcephaly, Arrhythmia, Polymicrogyria... OMIM:608836
Gómez-López-Hernández Syndrome
Hydrocephalus, Impaired pain sensation, Ataxia ORPHA:1532
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Occipi... ORPHA:352682
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ataxia, Rigidity, Abnormal cerebral white matter morphology, Abnormal periventricu... OMIM:618476
Frontal Encephalocele
Hydrocephalus, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypoplasia of the cor... ORPHA:1931
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Abnormality of the anterior commissure, Hemiparesis, Unsteady gait, Agenesis of co... OMIM:617542
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Mosaic Trisomy 1
Coarctation of aorta, Polymicrogyria, Pulmonary artery atresia, Polyhydramnios, Lateral ventricle... ORPHA:1692
1Q21.1 Microduplication Syndrome
Hypertonia, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Papillary Tumor Of The Pineal Region
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251915
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Enteric Anendocrinosis
Dehydration, Portal hypertension ORPHA:83620
Hydranencephaly
Cerebral cortical atrophy, Opisthotonus, Abnormal internal carotid artery morphology, Spastic dip... ORPHA:2177
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal basal ganglia morphology, Colpocephaly, Open operculum, Dilated third ventricle, Lateral... ORPHA:397715
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Dysplastic corpus callosum, Ataxia, Inability to walk, Abnormal bleeding,... ORPHA:357058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Type II lissencephaly, Abnormal cerebral white matter morphology, Agyria, Lissence... OMIM:613153
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Familial Cold Urticaria
Dysesthesia, Dehydration ORPHA:47045
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Propionic Acidemia
Cerebral atrophy, Cerebellar hemorrhage, Dehydration, Limb hypertonia, Cardiomyopathy OMIM:606054
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Babinski sign, Abnormal cortical gyration, Hypoplasia of the corpus c... ORPHA:2524
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Ventriculomegaly, Spasticity, Progressiv... OMIM:610333
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Familial Renal Glucosuria
Dehydration ORPHA:69076
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Abnormal globus pallidus morphology, Dehydration, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Spastic tetrapl... OMIM:252650
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cortical dysplasia, Type II lissencephaly, Ventriculomegaly, Spastici... OMIM:615287
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Pulmonary edema, Cerebral hemorrhage, Diffuse... ORPHA:90068
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Pseudo-Torch Syndrome 3
Cerebral calcification, Abnormal cerebral white matter morphology, Cerebral hemorrhage, Hypertension OMIM:618886
Fetal Akinesia Syndrome, X-Linked
Polyhydramnios, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Hydrocephalus, Ataxia, Stroke, Cerebral atrophy, Subdural hemorrhage, Poor f... ORPHA:79282
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive heart f... ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Tachycardia, ... OMIM:619737
Nasu-Hakola Disease
Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification, Chorea, Ventriculomegaly, Spast... ORPHA:2770
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Cortical... ORPHA:1136
Reticular Dysgenesis
Dehydration ORPHA:33355
Congenital Toxoplasmosis
Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Ascites ORPHA:858
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... OMIM:614924
Familial Congenital Mirror Movements
Clumsiness, Poor fine motor coordination, Morphological abnormality of the corticospinal tract, C... ORPHA:238722
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Myoclonus, Ataxia OMIM:560000
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Spasticity OMIM:251120
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Oculomotor apraxia OMIM:619111
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ataxia, Periventricular leukomalacia, Microcephaly, Cerebral palsy, Polyhydramnios... OMIM:619833
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tract hypoplasia,... ORPHA:255138
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Type II lissencephaly, Gait disturbance, Dilated cardiomyopathy, Ventriculomegaly,... ORPHA:272
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Dehydration, Aortic valve stenosis OMIM:143880
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Spina bifida, Agenesis of corpus callosum,... OMIM:207950
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Inability to walk, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, V... OMIM:616362
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, General... ORPHA:244242
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cerebral atrophy, Hydrops fetalis, Ascites, Congestive heart failure OMIM:269920
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Cystinosis
Motor stereotypy, Dehydration, Abnormal pyramidal sign, Gait disturbance, Portal hypertension ORPHA:213
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Wide anterior fontanel, Basal ganglia cysts, Pulmonary arterial hypertension, Lymphedema, Patent ... OMIM:613623
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy ORPHA:370968
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microcephaly, Abnormal pyramidal sign, Polymicrogyria, Lissencephaly,... OMIM:614833
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Increased CSF lactate, Cerebral cortical atrophy, Myoclonus, Vocal cord paralysis, Partial agenes... ORPHA:500144
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Central Diabetes Insipidus
Dehydration ORPHA:178029
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Brain atrophy, Pigmentary retinopathy OMIM:619059
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Hemiparesis, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Leukoencephalopathy, Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, ... OMIM:175780
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Megalencephaly, Mitral regurgitation, Hydrocephalus, Polymicrogyria ORPHA:83473
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Age... OMIM:218350
Choreoacanthocytosis
Frontal cortical atrophy, Falls, Chorea, Slurred speech, Hypertonia, Loss of ambulation, Resting ... ORPHA:2388
Beta-Ketothiolase Deficiency
Ataxia, Extrapyramidal dyskinesia, Dehydration, Hypotension, Spasticity, Edema, Hypertension ORPHA:134
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hydrocephalus, Periventricular leukomalacia OMIM:618302
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Spastic tetraplegia, Congestive heart failure OMIM:300886
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus c... ORPHA:2512
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Hypotension OMIM:203400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Microcephaly, Intraventricular hemorrhage, Myoclonus, Spastic tetraplegia,... OMIM:619055
3-Hydroxy-3-Methylglutaric Aciduria
Leukoencephalopathy, Ataxia, Spastic hemiparesis, Microcephaly, Dehydration, Myoclonus, Hypotensi... ORPHA:20
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Hydrocephalus, Peripheral arteriovenous fistula, Chylothorax, High-ou... ORPHA:137667
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus, Hypoplasia of the corpus callosum ORPHA:1516
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Achondroplasia
Megalencephaly, Hydrocephalus OMIM:100800
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Lissencephaly Type Iii And Bone Dysplasia
Polyhydramnios, Microlissencephaly, Akinesia, Agenesis of corpus callosum OMIM:601160
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites ORPHA:284227
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hypotension OMIM:264350
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Microcephaly, Dehydration, Lissencephaly, Oligohydramnios OMIM:208085
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly, Megalencephaly OMIM:602501
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Fetal Gaucher Disease
Hypertonia, Intracranial hemorrhage, Hydrops fetalis ORPHA:85212
Alternating Hemiplegia Of Childhood
Ataxia, Abnormal T-wave, Oculomotor apraxia, Dehydration, Abnormal pyramidal sign, Arrhythmia, Ri... ORPHA:2131
Harlequin Ichthyosis
Dehydration, Sudden cardiac death ORPHA:457
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Microcephaly, Abnormal pyramidal sign, Dilated fourth ventricle, Polymicrogyria, T... ORPHA:370959
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus ORPHA:290
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Intellectual Developmental Disorder, Autosomal Dominant 39
Thin corpus callosum, Hydrocephalus, Cerebral atrophy OMIM:616521
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration, Hypotension ORPHA:556030
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Multiple Sulfatase Deficiency
Hydrocephalus, Ataxia, Cerebral atrophy, Abnormal periventricular white matter morphology, Ventri... OMIM:272200
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Polyhydramnios, Patent ductus arteriosus, Ventriculomegaly, Enc... ORPHA:93274
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Stereotypical hand wringing, Hypoplasia of the corpus c... OMIM:619179
Krabbe Disease
Hypertonia, Hydrocephalus, Decerebrate rigidity, Progressive spasticity, Diffuse cerebral atrophy... OMIM:245200
Congenital Sialidosis Type 2
Hydrocephalus, Petechiae, Ataxia, Cherry red spot of the macula, Dysmetria, Myoclonus, Abnormal E... ORPHA:93400
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Lateral ventricle dilatation, Patent d... ORPHA:177907
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphedema, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:613156
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral pattern, Colpocephaly OMIM:615219
Medulloblastoma
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Cerebellar hemorrhage, Intention... ORPHA:616
Even-Plus Syndrome
Dysplastic corpus callosum, Oligohydramnios, Agenesis of corpus callosum OMIM:616854
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Spastic gait OMIM:249630
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ataxia, Stroke, Upper motor neuron dysfunction, Spastic paraparesis, Microcephaly,... ORPHA:395
Arachnoid Cyst
Paraparesis, Hydrocephalus, Inability to walk, Holoprosencephaly, Subarachnoid hemorrhage, Hemipa... ORPHA:2356
Riddle Syndrome
Ataxia, Clumsiness, Microcephaly, Intraventricular hemorrhage, Conjunctival telangiectasia, Gait ... ORPHA:420741
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hypotension OMIM:177735
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
L1 Syndrome
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Gait disturbance, Spasticity ORPHA:275543
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Hypertonia, Microcephaly, Palpebral edema, Limb hypertonia, Nonprogressive cerebellar ataxia, Pri... ORPHA:466688
Wolcott-Rallison Syndrome
Double outlet right ventricle, Microcephaly, Dehydration, Difficulty walking, Ascites ORPHA:1667
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, Ventriculomegaly, C... OMIM:618619
Vascular Hyalinosis
Cerebral calcification, Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Hemiparesis, Vasculitis, Cerebral ischemia, Total anomalous pulm... ORPHA:494424
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Increased CSF lactate, Hypertonia OMIM:604273
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Hydrocephalus, Ataxia, Cerebral atrophy, Opisthotonus, Myoclonus, Hypoplasia of the c... OMIM:614969
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Hydrocephalus, Aortic regurgitation, Gait disturbance ORPHA:2181
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Wide anterior fontanel, Hypoplasia of the corpus callosum, Megalencephaly, Pulmona... OMIM:616482
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1