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Gene: Sptan1 MGI:98386

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Gene Summary

Name:
spectrin alpha, non-erythrocytic 1
Synonyms:
Spna-2,  alpha-fodrin,  2610027H02Rik,  alphaII-spectrin,  Spna2

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Sptan1em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Sptan1em1(IMPC)Mbp HET Early adult 0.00
cataract Sptan1em1(IMPC)Mbp HET   Early adult 2.31×10-06
enlarged kidney Sptan1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Sptan1em1(IMPC)Mbp HET   Early adult 6.16×10-07
preweaning lethality, complete penetrance Sptan1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Sptan1em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Sptan1em1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Sptan1em1(IMPC)Mbp HET   Early adult 1.22×10-06
enlarged spleen Sptan1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina vasculature morphology Sptan1em1(IMPC)Mbp HET Early adult 2.73×10-05
abnormal kidney morphology Sptan1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Sptan1em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Sptan1 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.

The table below shows human diseases associated to Sptan1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 5
Atrophy/Degeneration affecting the brainstem OMIM:613477
Infantile Spasms Syndrome
ORPHA:3451

The table below shows human diseases predicted to be associated to Sptan1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Microphthalmia, ... OMIM:212550
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Microphthalmia OMIM:251505
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... ORPHA:1473
L1 Syndrome
Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis ORPHA:275543
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Hand muscle atrophy... ORPHA:1136
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Retinal dystrophy, Posterior lenticonus, Ir... ORPHA:231736
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Microphtha... OMIM:616171
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Hepatomegaly, Microcornea, Microphthalmia ORPHA:2432
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology ORPHA:2185
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Coloboma, Cataract, Hematuria, Microphthalmia OMIM:120433
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Microphthalmia, Shallow anterior chamber, Peripheral retinal avascul... OMIM:305390
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... ORPHA:891
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Lissencephaly 4
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:614019
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Optic nerve misrouting, Foveal ... OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... OMIM:251270
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Retinal... ORPHA:209956
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly ORPHA:1788
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dys... ORPHA:324416
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Aqueductal stenosis ORPHA:3035
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Combined Oxidative Phosphorylation Deficiency 39
Increased CSF lactate, Flexion contracture, Ventriculomegaly, Arthrogryposis multiplex congenita,... OMIM:618397
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... OMIM:619895
Bowen-Conradi Syndrome
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Campt... ORPHA:1270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy, Mi... OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Corpus Callosum Agenesis-Neuronopathy Syndrome
Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... ORPHA:190
Morm Syndrome
Micropenis, Abnormality of the kidney, Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anomaly, Optic disc colob... OMIM:120200
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Galloway-Mowat Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Aqueductal stenosis, Short stature ORPHA:2065
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy, Micropenis OMIM:610156
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly, Hypoplasia of the brainstem OMIM:615763
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation ORPHA:488635
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilat... ORPHA:137902
Porencephaly
Ventriculomegaly ORPHA:2940
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Iris coloboma, Abnormal localization of kidney, Hydronephrosis, Microph... ORPHA:195
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Microcephaly-Cardiomyopathy Syndrome
Short stature, Ventricular septal defect, Dilated cardiomyopathy, Ventriculomegaly, Intrauterine ... ORPHA:2515
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Retinal dystrophy,... ORPHA:3156
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Uraciluria, Microphthalmia OMIM:274270
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Ventriculomegaly, Left atrial enlargement OMIM:115210
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Phthisis bulbi, Shallow... ORPHA:91495
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem OMIM:618677
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... OMIM:613801
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia OMIM:615415
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:617800
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... OMIM:180080
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Aplasia/Hypopla... ORPHA:290
Masa Syndrome
Camptodactyly of finger, Agenesis of corpus callosum, Ventriculomegaly, Short stature ORPHA:2466
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy, Microphthalmia OMIM:601794
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Muscular dystrophy, Hypoplasia of the pons, Ventriculomegaly,... OMIM:613154
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Microphthalmia OMIM:613517
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Joubert Syndrome 22
Coloboma, Renal hypoplasia, Retinal dysplasia, Microphthalmia OMIM:615665
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly ORPHA:329228
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice ORPHA:79238
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Cho... OMIM:617303
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Shallow anterior chambe... OMIM:221900
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Ascites, Microphthalmia, Ane... ORPHA:858
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys, Microphthalmia OMIM:617914
Leber Congenital Amaurosis 1
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... OMIM:204000
Papillorenal Syndrome
Absence of renal corticomedullary differentiation, Macular degeneration, Morning glory anomaly, H... OMIM:120330
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, ... ORPHA:272
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Short stature, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Elongated superior cerebellar peduncle, Hydrocephalus, Atrial septal defect, Aqueductal stenosis,... OMIM:619512
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly, Arthrogryposis multiplex congenita OMIM:619501
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
2Q24 Microdeletion Syndrome
Coloboma, Abnormality iris morphology, Cataract, Microphthalmia ORPHA:1617
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:303350
Gombo Syndrome
Microphthalmia OMIM:233270
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Ventriculomegaly ORPHA:1084
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Intrauterine growth retard... OMIM:225790
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly ORPHA:2732
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem, Short stature OMIM:617862
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Microphthalmia ORPHA:1466
Lissencephaly 1
Ventriculomegaly, Hypoplasia of the brainstem OMIM:607432
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly ORPHA:500166
Alexander Disease
Facial palsy, Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:58
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microcornea, Retinal dystrophy, Coloboma, Catar... OMIM:610125
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... OMIM:610256
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Ventriculomegaly ORPHA:1980
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly, Short stature ORPHA:3207
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ventriculomegaly OMIM:613402
Pfeiffer Syndrome Type 3
Aqueductal stenosis ORPHA:93260
Catel-Manzke Syndrome
Atrial septal defect, Short stature, Camptodactyly of finger, Ventricular septal defect, Ventricu... ORPHA:1388
Pierson Syndrome
Remnants of the hyaloid vascular system, Nephrotic syndrome, Microphthalmia, Diffuse mesangial sc... OMIM:609049
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Ventriculomegaly OMIM:618383
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Microphthalmia OMIM:300915
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Macdermot-Winter Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventriculomegaly OMIM:247990
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... ORPHA:464329
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Limb hypertonia, Lower limb amyotrophy ORPHA:401815
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Rhabdomyosarcoma, Spina bifida OMIM:162200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Hypoplasia of the brainstem OMIM:616486
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Left ventricular hypertrophy, Retinal detachment, Coloboma, Cataract, Microphtha... OMIM:613153
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Rod-cone dystrophy, Retinal coloboma, Morning glory ... OMIM:612109
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Short stature ORPHA:1261
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Microphthalmia, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism... OMIM:152950
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Ventriculomegaly OMIM:617557
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Flexion contracture of toe, Ventriculomegaly OMIM:619323
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Biemond Syndrome Type 2
Hypospadias, Coloboma, Microphthalmia ORPHA:141333
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Charge Syndrome
Abnormal cardiac septum morphology, Aqueductal stenosis, Holoprosencephaly, Short stature, Abnorm... ORPHA:138
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly, Hypoplasia of the brainstem OMIM:618730
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia OMIM:257910
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Agenesis of corpus callosum, ... OMIM:618651
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:608716
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Retinal dystrophy, Polycystic kidney dysplasia, Cataract, Microcoria OMIM:263100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Cataract, Ectopic kidney OMIM:613730
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:617090
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Lissencephaly 3
Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the brainstem OMIM:611603
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea, Microphthalmia ORPHA:627
Stromme Syndrome
Optic nerve hypoplasia, Bilateral renal hypoplasia, Accessory spleen, Microcornea, Retinal vascul... OMIM:243605
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Flexion contracture OMIM:304340
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Microphthalmia, Hepatic steatosis OMIM:618805
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Mem... ORPHA:251004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract, Microphthalmia OMIM:615181
Microhydranencephaly
Multiple joint contractures, Short stature, Ventriculomegaly, Growth delay, Hydranencephaly, Skel... OMIM:605013
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Intrauterine growth retardation, Hydrocephalus, Short stature, Distal arthrogryposis, Ventriculom... OMIM:619833
Refsum Disease
Abnormality of retinal pigmentation, Splenomegaly, Retinopathy, Cataract, Renal insufficiency, Mi... ORPHA:773
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Flexion contracture... ORPHA:79243
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Ventriculomegaly OMIM:617613
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Generalized amyotrophy OMIM:616540
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly OMIM:610333
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Microphthalmia, Sclerocorn... ORPHA:139471
Bresek Syndrome
Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia, Iris coloboma, Renal hypoplas... ORPHA:85284
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmi... OMIM:615145
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly OMIM:613925
Fanconi Anemia, Complementation Group I
Atrial septal defect, Short stature, Colpocephaly, Ventricular septal defect, Patent foramen oval... OMIM:609053
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia, Ectopia lentis, Cataract ORPHA:1068
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... ORPHA:370959
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Faciothoracogenital Syndrome
Glandular hypospadias, Microphthalmia OMIM:227320
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly ORPHA:85179
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Short stature ORPHA:262767
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosplenomegaly, Leukopenia, Heparan ... ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Muscular dystrophy, Anencephaly, Ventriculomegaly, Occipital encephalocele, Agenes... OMIM:615287
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of ... OMIM:175700
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, R... ORPHA:2470
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Lissencephaly 8
Optic atrophy, Cataract, Microphthalmia OMIM:617255
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly ORPHA:1568
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Ventricular septal defect, Lateral... ORPHA:3078
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplastic left heart, Ventricular septal defect, Ven... ORPHA:2772
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microlissencephaly
Ventriculomegaly ORPHA:1083
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphol... ORPHA:2788
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Ventriculomegaly OMIM:618228
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Secundum atrial septal defect, Primum atrial septal defect, Aqueductal stenosis, A... OMIM:619534
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Ventriculomegaly, Growth delay, Intrauterine growth retar... ORPHA:1495
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Slc35A2-Cdg
Short stature, Camptodactyly of finger, Tetralogy of Fallot, Atrophy/Degeneration affecting the b... ORPHA:356961
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... OMIM:608022
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Trisomy 13
Abnormal retinal vascular morphology, Abnormality of the ureter, Anophthalmia, Multiple renal cys... ORPHA:3378
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Agenesis of corpus callosum, Ventriculomegaly OMIM:617669
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... OMIM:611490
H Syndrome
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Microc... ORPHA:168569
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Thrombocytopenia... OMIM:607616
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Ventriculomegaly OMIM:602501
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem... OMIM:603552
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract, Microphthalmia OMIM:614219
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Ventriculomegaly, Flexion contracture OMIM:617977
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Abnormal cardiac septum morphology, Ventriculomegaly, Umbilical hernia, Hypoplasia of the brainstem OMIM:618354
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Walker-Warburg Syndrome
Corneal opacity, Microphthalmia, Hypoplasia of penis, Retinal detachment, Anophthalmia, Microcorn... ORPHA:899
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy, Microcytic anemia, Cataract, Microphthalmia OMIM:612379
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Retinal coloboma, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, As... ORPHA:500095
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Ventriculomegaly, Umbil... OMIM:618164
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma OMIM:619318
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Shashi-Pena Syndrome
Atrial septal defect, Ventriculomegaly OMIM:617190
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu... OMIM:276700
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Microphthalmia, Ascites, Aniridia, Asplenia OMIM:602361
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Abnormal pons morphology, H... ORPHA:370968
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Abnormally large globe, Coloboma, Cataract, Microphthalmia OMIM:615249
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice OMIM:620010
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Abnormal brainstem ... ORPHA:255182
Isolated Aniridia
Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula, Cataract ORPHA:250923
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem ORPHA:77299
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Ventriculomegaly, Increased CSF protein OMIM:611722
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Cataract, Microphthalmia ORPHA:85194
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Knee flexion contracture, Limb joint contracture, Ankle flexion con... ORPHA:284417
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Short stature, Holoprosencephaly, Ventriculomegaly, Encephal... ORPHA:93274
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Sialidosis Type 2
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Nephropathy, Ascites ORPHA:87876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy, Hypoplasia of the pons, Ventriculomegaly OMIM:613151
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Urinary excret... OMIM:256550
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Flexion contracture, Ventriculomegaly OMIM:618291
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Cornelia De Lange Syndrome 2
Short stature, Ventriculomegaly, Postnatal growth retardation, Hypertrophic cardiomyopathy, Intra... OMIM:300590
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Ventricular septal defect, Ventriculomegaly, Agenesis of corpus cal... OMIM:218350
Cach Syndrome
Abnormal pons morphology, Flexion contracture, Atrophy/Degeneration affecting the brainstem, Late... ORPHA:135
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Temtamy Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1777
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly, Short stature OMIM:300699
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormal brain... ORPHA:300573
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Cataract, Renal... OMIM:203780
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Ventriculomegaly ORPHA:939
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... ORPHA:1908
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Developmental cataract, ... ORPHA:335
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Hydrocephalus, Atrial septal defect, Ventriculomegaly,... ORPHA:2655
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Epilepsy, Early-Onset, Vitamin B6-Dependent
Ventriculomegaly OMIM:617290
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Severe short stature, Ventriculomegaly OMIM:225755
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased CSF lactate, Ventriculomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy, In... OMIM:619051
Otodental Syndrome
Retinal coloboma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma ORPHA:2791
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Microcornea, Optic at... ORPHA:2510
Yoon-Bellen Neurodevelopmental Syndrome
Ventriculomegaly, Hypomimic face OMIM:619701
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental catarac... OMIM:614222
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Ventriculomegaly, Arthrogryposis ... OMIM:616531
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Cataract, Micropenis OMIM:610756
Intellectual Developmental Disorder, Autosomal Dominant 35
Facial hypotonia, Hydrocephalus, Ventriculomegaly, Congenital muscular torticollis, Intrauterine ... OMIM:616355
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney ORPHA:79128
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly, Intrau... ORPHA:572798
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617127
Warburg Micro Syndrome 2
Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Microphthalmia OMIM:614225
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Rhizomelic leg shortening, Short stature, Colpocephaly, D... ORPHA:397715
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Developmental And Epileptic Encephalopathy 70
Ventriculomegaly, Flexion contracture OMIM:618298
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Abnormality of the blad... ORPHA:2547
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Coloboma, Cardiomegaly, Microphthalmia OMIM:618652
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Ventriculomegaly, Intrauterine grow... ORPHA:48431
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Mmep Syndrome
Microphthalmia ORPHA:3434
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Tubulointerstitial nephri... ORPHA:279914
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Mulibrey Nanism
Myocardial fibrosis, Short stature, Ventriculomegaly, Growth delay, Intrauterine growth retardati... OMIM:253250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... OMIM:614866
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... ORPHA:79312
Spastic Paraplegia 47, Autosomal Recessive
Ventriculomegaly, Flexion contracture, Short stature OMIM:614066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... OMIM:216360
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Skraban-Deardorff Syndrome
Ventriculomegaly OMIM:617616
Joubert Syndrome 14
Morning glory anomaly, Renal cyst, Coloboma, Microphthalmia OMIM:614424
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Microcornea, Optic disc coloboma, Iris colobo... ORPHA:568
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Astigmatism, Optic atrophy, Peters anomaly, Iris coloboma, Microphthalmia, Vesicoure... ORPHA:494344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... OMIM:606612
Alg3-Cdg
Macroglossia, Hypoplasia of the pons, Neural tube defect, Arthrogryposis multiplex congenita, Car... ORPHA:79321
Pierpont Syndrome
Microphthalmia, Microcornea, Micropenis OMIM:602342
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cataract, Hypoplasia of penis, Aplasia/Hypoplasia of the lens ORPHA:1381
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Autosomal Recessive Primary Microcephaly
Growth delay, Agenesis of corpus callosum, Ventriculomegaly, Short stature ORPHA:2512
Trisomy 5P
Ventriculomegaly, Short stature ORPHA:1742
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Hepatomegaly, Microphthalmia OMIM:619053
Intellectual Developmental Disorder, Autosomal Recessive 46
Growth delay, Ventriculomegaly, Short stature OMIM:616116
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Khan-Khan-Katsanis Syndrome
Flexion contracture, Short stature, Colpocephaly, Patent foramen ovale, Intrauterine growth retar... OMIM:618460
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Developmental Delay With Variable Neurologic And Brain Abnormalities
Astigmatism, Cataract, Microphthalmia OMIM:619694
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dy... ORPHA:3301
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Cataract, Microcornea OMIM:106230
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Oligosacchariduria, Retinal detachment, Cataract, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Congenital foot contractures, Limb hypertonia, Atrophy/Degeneration affect... ORPHA:565624
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Ventriculomegaly, Flexion contracture OMIM:619851
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Colpocephaly, Ventriculomegaly ORPHA:261250
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Growth delay, Atrial septal defect, Joint contracture of the hand,... OMIM:179613
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Meckel Syndrome, Type 8
Anophthalmia, Hyperechogenic kidneys, Microphthalmia OMIM:613885
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida, Agenesis of corpus callosum, Ventriculomegaly ORPHA:99742
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Chole... OMIM:615630
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma, Microphthalmia OMIM:169550
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Ventriculomegaly OMIM:618251
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:420179
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Agenesis of corpus callosum, Ventriculomegaly OMIM:312170
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Cataract, Microphthalmia, Scl... OMIM:615877
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Multicystic kidney dysplasia, Ureteral duplication, Access... ORPHA:564
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Hypoplasia of the brainstem, Ventriculomegaly, Short stature OMIM:618273
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Ventriculomegaly ORPHA:2643
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventriculomegaly ORPHA:1188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Ventriculomegaly OMIM:618241
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Aminoaciduria, Abnormal macular morphology... ORPHA:414
Acro-Renal-Ocular Syndrome
Bladder diverticulum, Renal hypoplasia/aplasia, Crossed fused renal ectopia, Microcornea, Optic d... ORPHA:959
1Q44 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Short stature, Ventriculomegaly, Growth delay,... ORPHA:238769
Frontonasal Dysplasia 1
Coloboma, Cataract, Microphthalmia OMIM:136760
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Hypoplasia of penis, Microphthalmia ORPHA:2328
Congenital Sialidosis Type 2
Corneal opacity, Hepatomegaly, Cherry red spot of the macula, Abnormality of the kidney, Hepatosp... ORPHA:93400
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly, Ventriculomegaly OMIM:615433
20P12.3 Microdeletion Syndrome
Atrial septal defect, Ventriculomegaly, Short stature ORPHA:261295
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Ventricular ... OMIM:309801
Peho-Like Syndrome
Ventriculomegaly OMIM:617507
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Hydrocephalus, Short stature, Ventriculomegaly, Agenesis of corpus ca... OMIM:109120
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Short stature, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:617260
Multiple Sulfatase Deficiency
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ... ORPHA:585