Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Sptan1 MGI:98386

Gene Summary

Name:

spectrin alpha, non-erythrocytic 1

Synonyms:

Spna-2, alpha-fodrin, 2610027H02Rik, alphaII-spectrin, Spna2

Order Alleles

IMPC Data Collections

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	Allele	Zyg	Life Stage	P Value
abnormal head shape	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Sptan1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal retina vasculature morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	2.09×10^-05
abnormal neural tube morphology	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal eye morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal visceral yolk sac morphology	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
persistence of hyaloid vascular system	Sptan1^em1(IMPC)Mbp	HET	Early adult	3.84×10^-07
abnormal forebrain development	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
cataract	Sptan1^em1(IMPC)Mbp	HET	Early adult	8.45×10^-07
abnormal spleen morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased body length	Sptan1^em1(IMPC)Mbp	HET	Early adult	3.57×10^-07
edema	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Sptan1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal midbrain development	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged kidney	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
microcephaly	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Sptan1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal vitreous body morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	4.77×10^-07
abnormal neural tube closure	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
microphthalmia	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Gross Morphology Embryo E14.5-E15.5

Images

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

View images

MicroCT E9.5

Embryo reconstruction

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Gross Morphology Embryo E9.5

Images

5 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

View images

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.

Human diseases associated with Sptan1 (2 diseases)
Human diseases predicted to be associated with Sptan1 (1073 diseases)

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		Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus ca...	OMIM:613477
Infantile Spasms Syndrome			ORPHA:3451

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

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly	OMIM:615041
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology	OMIM:276950
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
L1 Syndrome	Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus	ORPHA:275543
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Macrocephaly, Aplasia/Hypopla...	ORPHA:1931
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ...	ORPHA:1473
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Gombo Syndrome	Microphthalmia	OMIM:233270
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly	ORPHA:2432
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
Lissencephaly 4	Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature	OMIM:614019
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:3035
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Parti...	OMIM:619895
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly	OMIM:304340
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Galloway-Mowat Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Short stature, Camptodactyly of finger	ORPHA:2065
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Intrauterine growth retardation, Microcephaly	ORPHA:293
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg...	ORPHA:324416
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:1788
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney	OMIM:613885
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Bowen-Conradi Syndrome	Short stature, Camptodactyly of finger, Severe postnatal growth retardation, Severe intrauterine ...	ORPHA:1270
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Spastic Paraplegia 88, Autosomal Dominant	Hypoplasia of the brainstem, Lower limb muscle weakness, Ventriculomegaly	OMIM:620106
Nanophthalmos 4	Microphthalmia	OMIM:615972
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Neonatal death	OMIM:251230
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Porencephaly	Ventriculomegaly	ORPHA:2940
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Gómez-López-Hernández Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Brachycephaly, Midface ...	ORPHA:1532
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly	OMIM:618677
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:488635
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Chorioretinal coloboma...	ORPHA:195
Neurooculorenal Syndrome	Dextrocardia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu...	OMIM:620305
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Hypoplasia of the brainstem, Ventriculomegaly	OMIM:615763
Microcephaly-Cardiomyopathy Syndrome	Short stature, Ventricular septal defect, Dilated cardiomyopathy, Intrauterine growth retardation...	ORPHA:2515
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly	OMIM:617800
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Optic atrophy, Coloboma	OMIM:274270
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Ventriculomegaly	OMIM:115210
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Ch...	ORPHA:3156
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Cataract, Micropenis	ORPHA:75858
Masa Syndrome	Short stature, Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly	ORPHA:2466
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, S...	ORPHA:290
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Lateral ventricle dilatation, Ventricular septal defect, Increased variability in muscl...	OMIM:616816
Craniosynostosis 6	Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Brach...	OMIM:616602
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Arthrogryposis multiplex congenita, Agenesis of corpus callosum,...	OMIM:616570
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp...	ORPHA:858
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Coloboma, Renal hypoplasia	OMIM:615665
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:619512
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chorioretin...	OMIM:617303
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ...	OMIM:618736
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter...	OMIM:616034
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy...	ORPHA:272
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H...	OMIM:204000
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Ventriculomegaly And Arthrogryposis	Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Ventriculomegaly	ORPHA:1084
Masa Syndrome	Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology, Coloboma	ORPHA:1617
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthalmos, Anemia	OMIM:615085
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Facial palsy	ORPHA:58
Cofs Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation, Cataract	ORPHA:1466
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect, Short stature	OMIM:618330
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly	OMIM:612691
Lissencephaly 1	Hypoplasia of the brainstem, Ventriculomegaly	OMIM:607432
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly	ORPHA:2898
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem	ORPHA:250972
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Microphthalmia, Syndromic 5	Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Coloboma, Microph...	OMIM:610125
Neurofibromatosis, Type I	Short stature, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus	OMIM:162200
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Aqueductal stenosis, H...	OMIM:154400
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Microcephaly, Seizures, And Developmental Delay	Skeletal muscle atrophy, Ventriculomegaly	OMIM:613402
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Ventriculomegaly	ORPHA:1980
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Joint contracture, Hypoplasia of the brainstem	OMIM:618266
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Short stature, Ventriculomegaly	ORPHA:3207
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:500166
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma, Left ventricular hypertrophy, Microphtha...	OMIM:613153
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:171703
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly, Cerebral cortical atrophy, Microcephaly	ORPHA:1665
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Catel-Manzke Syndrome	Short stature, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Ventricu...	ORPHA:1388
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Lower limb amyotrophy, Limb hypertonia	ORPHA:401815
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Flexion contracture of toe, Camptodactyly of finger, Ventriculomegaly	OMIM:619323
Macdermot-Winter Syndrome	Intrauterine growth retardation, Camptodactyly of finger, Ventriculomegaly	OMIM:247990
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Charge Syndrome	Short stature, Facial palsy, Aqueductal stenosis, Postnatal growth retardation, Abnormal cardiac ...	ORPHA:138
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Martsolf Syndrome 2	Lateral ventricle dilatation, Short stature, Camptodactyly of finger, Camptodactyly	OMIM:619420
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Partial agenesis of the corpus callosum, Abnormal CSF pyruvate family ...	ORPHA:79243
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Hypoplasia of the brainstem, Ventriculomegaly	OMIM:618730
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Aplasia Cutis Congenita	Calvarial skull defect, Spinal dysraphism	ORPHA:1114
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, ...	OMIM:218350
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di...	OMIM:608836
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Biemond Syndrome Type 2	Microphthalmia, Hypospadias, Coloboma	ORPHA:141333
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Bonnemann-Meinecke-Reich Syndrome	Short stature, Ventriculomegaly	ORPHA:1261
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Lateral ventricle dil...	OMIM:617751
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Intellectual Developmental Disorder, Autosomal Recessive 69	Facial hypotonia, Ventriculomegaly	OMIM:618383
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:608716
Mmep Syndrome	Microphthalmia	ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu...	OMIM:615219
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Generalized amyotrophy, Ventriculomegaly	OMIM:616540
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Short stature, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	OMIM:617862
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT...	ORPHA:251004
Pontocerebellar Hypoplasia, Type 1A	Spinal muscular atrophy, Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricl...	OMIM:607596
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Microphthalmia, Hepatic steatosis, Pancreatitis	OMIM:618805
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Perimembranous ventricular se...	OMIM:618651
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus cal...	OMIM:618577
Nance-Horan Syndrome	Retinal detachment, Microphthalmia, Cataract, Microcornea	ORPHA:627
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp...	OMIM:618619
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Splenomegaly, Microphthalmia,...	ORPHA:773
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Lipemia retinalis, Nephrolithias...	OMIM:232200
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	OMIM:620200
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati...	ORPHA:370959
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the brainstem, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617090
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Ventriculomegaly	OMIM:617613
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, G...	OMIM:612863
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Intrauterine growth...	ORPHA:228390
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic...	ORPHA:139471
Lissencephaly 3	Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly	OMIM:611603
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Atrial septal defect, Elongated s...	OMIM:608629
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Growth delay, Colpocephaly, Congenital contracture, Agenesis of corpus callosum, V...	OMIM:620156
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Intrauterine growth retardatio...	OMIM:619833
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicourete...	ORPHA:85284
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Aicardi-Goutieres Syndrome 4	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Short stature, Growth delay, Hypoplasia of ...	OMIM:605013
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy	OMIM:617255
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Lateral ventricle dila...	OMIM:618291
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto...	ORPHA:505248
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Optic atrophy, Developmental cataract	OMIM:600118
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hypoplasia of the brainstem, Hydr...	OMIM:225790
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:77299
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Hydrocephalus, Abnormal heart morphology, Camptodactyly of toe,...	OMIM:175700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Lateral ventricle di...	ORPHA:284417
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cor triatriatum, Ventricular septal defect, Dextrocardia, Short stature, Situs inversus totalis, ...	OMIM:619534
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:85179
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly	ORPHA:1568
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp...	ORPHA:2470
Glutamine Deficiency, Congenital	Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Camptodact...	OMIM:610015
Cach Syndrome	Flexion contracture, Growth delay, Lateral ventricle dilatation, Abnormal pons morphology, Atroph...	ORPHA:135
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre...	OMIM:276700
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Trisomy 13	Anophthalmia, Cataract, Displacement of the urethral meatus, Abnormal retinal vascular morphology...	ORPHA:3378
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal brain...	ORPHA:300573
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysra...	ORPHA:1908
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Camptodactyly of finger, Growth delay, Intrauterine growth retardation, Ventriculo...	ORPHA:1495
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart, Disproportionate short-limb short stature, Int...	ORPHA:2772
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
H Syndrome	Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Corneal arcus,...	ORPHA:168569
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Patent foramen ovale, Colpocephaly, Atrial septal defec...	OMIM:609053
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia...	ORPHA:899
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia	OMIM:612379
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ...	OMIM:603552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Lateral ventricle d...	OMIM:613154
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Slc35A2-Cdg	Short stature, Abnormal midbrain morphology, Limb joint contracture, Camptodactyly of finger, Abn...	ORPHA:356961
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc...	ORPHA:268810
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:602501
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop...	ORPHA:500095
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Ventricular septal defect, Severe postnatal growth retardation, Lateral...	ORPHA:3078
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Short stature, Brachycephaly	ORPHA:1514
Alg3-Cdg	Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti...	ORPHA:79321
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Increased CSF lactate, Abnormal CSF pyruvate family amino acid con...	ORPHA:255182
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithelial mottling, Methylmalo...	OMIM:614105
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation	ORPHA:85194
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Gracile Bone Dysplasia	Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites	OMIM:602361
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculom...	ORPHA:93274
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Holoprosencephaly	ORPHA:2163
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Developmental cataract	OMIM:613155
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Short stature, Postnatal growth retardation, Partial agenesis of the c...	OMIM:620113
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation	OMIM:600721
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, Abnormal local...	ORPHA:2510
Cornelia De Lange Syndrome 2	Short stature, Postnatal growth retardation, Intrauterine growth retardation, Hypertrophic cardio...	OMIM:300590
Congenital Fibrinogen Deficiency	Splenic rupture, Developmental cataract, Left ventricular hypertrophy, Microphthalmia, Micropenis...	ORPHA:335
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Hypoplasia of the pons, Congenital muscular dystrophy, Muscular dystrophy, Ventriculomegaly	OMIM:613151
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint c...	OMIM:618914
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Ventriculomegaly	ORPHA:939
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Intrauterine growth retardation, Hy...	OMIM:619051
Hemimegalencephaly	Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white...	ORPHA:99802
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Astigmatism, Rod-cone dys...	OMIM:615986
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia	OMIM:614219
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, Lateral vent...	OMIM:619995
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Anomalous pulmonary venous ...	ORPHA:1120
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly, Coloboma, Cardiomegaly	OMIM:618652
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis...	ORPHA:79312
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Hydrocephalus, Intrauterine growth retardation...	OMIM:616355
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Thanatophoric Dysplasia	Hydrocephalus, Disproportionate short-limb short stature, Atrial septal defect, Intrauterine grow...	ORPHA:2655
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Cataract, Developmental cataract	OMIM:610756
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad...	ORPHA:2547
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Vesicoureteral r...	ORPHA:494344
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Microphthalmia, Lenz Type	Cataract, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Microcornea, H...	ORPHA:568
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Pierpont Syndrome	Microcornea, Microphthalmia, Micropenis	OMIM:602342
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Mulibrey Nanism	Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constriction, Intraut...	OMIM:253250
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Ventriculomegaly, Knee ...	OMIM:616531
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen...	OMIM:216360
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Cataract, Oligosacchariduria, Microphthalmia, Hypopigmentation of the fundus	ORPHA:163649
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly	OMIM:619053
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Optic atrophy, Microcornea, Microp...	ORPHA:3301
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Bilateral Generalized Polymicrogyria	Growth delay, Lateral ventricle dilatation, Short stature	ORPHA:208447
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Short stature, Rhizomelic leg shortening, Meningocele,...	ORPHA:397715
Muenke Syndrome	Hydrocephalus, Brachycephaly, Plagiocephaly, Macrocephaly, Coronal craniosynostosis	ORPHA:53271
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation	OMIM:615716
Autosomal Recessive Primary Microcephaly	Growth delay, Short stature, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt...	OMIM:611490
Temtamy Syndrome	Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth...	OMIM:614222
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Intellectual Developmental Disorder, Autosomal Recessive 46	Growth delay, Short stature, Ventriculomegaly	OMIM:616116
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cardiomyopathy, Hypoplasia of the brainstem, Lateral ventricle dilatati...	ORPHA:572798
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:618228
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Short stature, Sagittal craniosynostosis, Hy...	ORPHA:459061
Trisomy 5P	Short stature, Ventriculomegaly	ORPHA:1742
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Postnatal growth retardation, Growth delay, Joint contracture of the h...	OMIM:179613
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Hypospadias, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Micro...	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,...	OMIM:613156
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami...	ORPHA:414
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Abnormal chor...	ORPHA:564
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Ventriculomegaly	OMIM:618251
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Frontonasal Dysplasia 1	Microphthalmia, Cataract, Coloboma	OMIM:136760
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ...	ORPHA:79259
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Distal amyotrophy, Facial palsy	OMIM:256850
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Opti...	ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hydrocephalus, Brachycephaly, Macrocephaly, Agenesis of corpus callosum	OMIM:109120
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Severe short stature, Ventriculomegaly	ORPHA:2643
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia	OMIM:617306
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Retinal coloboma, Iris coloboma	ORPHA:2328
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis	OMIM:614225
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str...	OMIM:252500
Acro-Renal-Ocular Syndrome	Renal malrotation, Cataract, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic disc coloboma...	ORPHA:959
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventriculomegaly	ORPHA:1188
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Atri...	OMIM:603387
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Frontonasal Dysplasia 2	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Mic...	OMIM:613451
Cockayne Syndrome Type 3	Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystrophy, Cataract, Renal insufficienc...	ORPHA:90324
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Short stature, Ventricular septal defect, Ventriculomegaly	OMIM:620210
1Q44 Microdeletion Syndrome	Short stature, Hydrocephalus, Growth delay, Abnormal cardiac septum morphology, Agenesis of corpu...	ORPHA:238769
Warburg Micro Syndrome 4	Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis	OMIM:615663
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Congenital foot contractures, Lateral ventricle dilatation, Atrophy/Degene...	ORPHA:565624
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
20P12.3 Microdeletion Syndrome	Atrial septal defect, Short stature, Ventriculomegaly	ORPHA:261295
Multiple Mitochondrial Dysfunctions Syndrome 3	Increased CSF lactate, Increased CSF glycine concentration, Intrauterine growth retardation, Arth...	OMIM:615330
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Pontocerebellar atrophy, Hypomimic face	OMIM:617854
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Cerebral atrophy, G...	OMIM:614886
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale	OMIM:620075
Brain Small Vessel Disease 2	Growth delay, Ventriculomegaly	OMIM:614483
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly	OMIM:615433
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Ventriculomegaly	OMIM:618624
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:615286
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro...	OMIM:222300
Neurodevelopmental Disorder With Dystonia And Seizures	Intrauterine growth retardation, Ventriculomegaly	OMIM:619922
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hy...	OMIM:614376
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Hydr...	OMIM:309801
Kapur-Toriello Syndrome	Cataract, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis, Iris c...	OMIM:244300
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
3C Syndrome	Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Pos...	ORPHA:7
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:420179
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Astigmatism, Retinal coloboma, Microphthalmia, Renal dysplasia	OMIM:618571
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:618241
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephropathy, Abnormal pancreas mo...	ORPHA:116
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Duane-Radial Ray Syndrome	Renal malrotation, Cataract, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe k...	OMIM:607323
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv...	ORPHA:247691
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Ventriculomegaly	OMIM:618974
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
16Q24.3 Microdeletion Syndrome	Colpocephaly, Dilated cardiomyopathy, Ventricular septal defect, Ventriculomegaly	ORPHA:261250
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Polyhydramnios, Myel...	ORPHA:63259
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly	ORPHA:101070
Oxoglutarate Dehydrogenase Deficiency	Generalized amyotrophy, Ventriculomegaly	OMIM:203740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr...	OMIM:236670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Microphthalmia, Iris coloboma	ORPHA:77298
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Hypoplasia of the br...	ORPHA:500159
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Ventriculomegaly	OMIM:230650
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation	ORPHA:85290
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Short stature, Ventriculomegaly	OMIM:615502
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Joubert Syndrome 37	Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly	OMIM:619185
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Emanuel Syndrome	Ventriculomegaly, Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphrag...	OMIM:609029
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Colpocephaly, Mitral stenosis, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Hypoplasia of the brainstem, Short stature, Ventriculomegaly	OMIM:618273
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Enlarged kidne...	ORPHA:79328
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Hypoplasia of the ventral pons, Viral infection-induced rhabdomyolysi...	ORPHA:2524
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Short stature, Postnatal growth retardation, Lateral ventricle dilatation, Camptodact...	OMIM:611209
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Short stature, Ventriculomegaly	OMIM:611555
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
6Q25 Microdeletion Syndrome	Short stature, Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly	ORPHA:251056
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper...	ORPHA:2399
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Hydrocephalus, Growth delay, Atrial septal defect, Intrauterine growth...	OMIM:614576
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Hypoplasia of the brainstem, Lower limb hypertonia, ...	ORPHA:2169
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Cog5-Cdg	Short stature, Camptodactyly of finger, Lateral ventricle dilatation, Atrophy/Degeneration affect...	ORPHA:263487
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Alobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, H...	OMIM:301043
Holoprosencephaly 7	Frontal bossing, Flat occiput, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial age...	OMIM:610828
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Trichothiodystrophy 3, Photosensitive	Cataract, Abdominal adhesions, Developmental cataract, Neutropenia, Microphthalmia, Lymphopenia	OMIM:616395
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Intrauterine growth retardation,...	OMIM:617710
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Flexion contracture, Ventriculomegaly	OMIM:619851
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia	OMIM:617244
Hogue-Janssen Syndrome 2	Facial hypotonia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Distal Deletion 10Q	Scapular winging, Short stature, Postnatal growth retardation, Facial diplegia, Lateral ventricle...	ORPHA:96148
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Joubert Syndrome 14	Morning glory anomaly, Optic atrophy, Renal cyst, Coloboma, Microphthalmia	OMIM:614424
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal...	ORPHA:2969
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Orofaciodigital Syndrome Xvii	Tetralogy of Fallot, Short stature, Ventriculomegaly	OMIM:617926
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Noonan Syndrome 14	Scapular winging, Short stature, Mitral valve prolapse, Lateral ventricle dilatation, Pulmonic st...	OMIM:619745
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Vitreous hemorrhage, Mic...	OMIM:620185
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventricu...	OMIM:300514
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Intr...	OMIM:618804
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Decreased muscle mass, Facial hypotonia, Ventriculomegaly	ORPHA:500533
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Short stature, Ventriculomegaly, Disproportionate short-tr...	ORPHA:1855
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Hypoplasia of the brainstem, Atrial septal defect, Umbilical ...	OMIM:618354
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Postnatal growth retardation, Partial agenesis of the corpus callosum, Congenital fi...	ORPHA:300570
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma...	ORPHA:244
Aicardi-Goutieres Syndrome 9	Pericarditis, Pericardial effusion, Lateral ventricle dilatation, Lower limb hypertonia, Left ven...	OMIM:619487
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g...	OMIM:308940
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Coloboma	OMIM:167730
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Lower limb hypertonia, Lateral ventricle dilatation, Dil...	OMIM:617296
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
4Q21 Microdeletion Syndrome	Growth delay, Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238750
Khan-Khan-Katsanis Syndrome	Short stature, Colpocephaly, Intrauterine growth retardation, Joint contracture, Patent foramen o...	OMIM:618460
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Con...	ORPHA:96170
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Short stature, Ventriculomegaly	OMIM:609757
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hy...	ORPHA:171680
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Cockayne Syndrome	Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatom...	ORPHA:191
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Agenesis of co...	OMIM:300952
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Polyhydramnios, Megalencephaly, Microcephaly, Hydrocephalus, Plagi...	OMIM:613603
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short stature, Ventricular septal defect, Flexion contracture, Atrial septal defect, Intrauterine...	OMIM:617452
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventri...	ORPHA:255138
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost...	OMIM:123500
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly	OMIM:606854
Steinfeld Syndrome	Absent gallbladder, Retinal coloboma, Microphthalmia, Unilateral renal dysplasia, Iris coloboma	OMIM:184705
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho...	OMIM:227650
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Skeletal muscle atrophy, Ventriculomegaly, Limb hypertonia	OMIM:619527
Joubert Syndrome 30	Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Umbilical hern...	OMIM:618205
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Pericardial effusion, Hydrocephalus, Hypoplasia of the brainstem, Kinked brains...	OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Hypoplasia of the brains...	OMIM:613150
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Cat Eye Syndrome	Renal agenesis, Biliary atresia, Horseshoe kidney, Hydronephrosis, Chorioretinal coloboma, Vesico...	OMIM:115470
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Amish Lethal Microcephaly	Ventriculomegaly, Agenesis of corpus callosum, Spina bifida, Limb hypertonia	ORPHA:99742
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Ventricular septal defect, Hydrocephalus, Lateral ventricle dilatation, Dilated th...	OMIM:619575
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ...	ORPHA:1454
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Atrial ...	OMIM:616546
Neurocutaneous Melanocytosis	Ventriculomegaly, Meningocele, Dandy-Walker malformation	ORPHA:2481
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Facial hypotonia, Ventriculomegaly	OMIM:611087
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho...	OMIM:600901
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:603194
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Lateral ventricle dilatation, Ventricular septal defect, Ventric...	OMIM:619229
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Pigmentary retinopathy, Microphthalmia, Micropenis	OMIM:614230
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myofiber disarray, Increased CSF lactate, Myopathy, Increased variability in muscle fiber diamete...	OMIM:604377
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Short stature, Ventricular septal defect, Limb joint contracture, Atrial septal defect, Intrauter...	ORPHA:505237
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypospadias, C...	OMIM:206900
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Myelopathy, Increased CSF lactate, Cervical myelopathy, Ventriculomegaly	OMIM:617186
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steat...	OMIM:300855
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Renal hypoplasia, Leukopenia, Bone marrow hypocellularity, Microphallus, Vesico...	OMIM:603467
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Intrauterine growth retardation, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:619074
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration	OMIM:272200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Intrauterine growth retardation, Ventriculomegaly	OMIM:620183
Gabriele-De Vries Syndrome	Facial hypotonia, Lateral ventricle dilatation, Distal arthrogryposis, Intrauterine growth retard...	OMIM:617557
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ...	OMIM:608091
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Asplenia, Horseshoe kidney, Hydronephrosis, Abnormal liver ...	ORPHA:99776
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Craniosynos...	OMIM:605627
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati...	OMIM:308300
Aniridia 3	Aniridia, Cataract	OMIM:617142
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi...	OMIM:251300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Cataract, Asplenia, Keratoconjunctivitis, Nephrocalcinosis, Perifoveal ...	OMIM:240300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Flexion contracture, Intrauterine growth retardation, Hy...	OMIM:616897
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Stevenson-Carey Syndrome	Microphthalmia, Recurrent urinary tract infections, Coloboma	OMIM:611961
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Astigmatism, Enlarged kidney, Enuresis nocturna	OMIM:615873
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Coloboma	OMIM:147250
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Thanatophoric Dysplasia Type 1	Atrial septal defect, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly	ORPHA:1860
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalu...	ORPHA:261344
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect, Ventriculomegaly	OMIM:615879
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Colpocephaly, Camptodactyly, Atrial septal defect, Intrauterine growth...	OMIM:614866
Thanatophoric Dysplasia, Type Ii	Neonatal death, Lethal short-limbed short stature, Ventriculomegaly	OMIM:187601
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Short stature	OMIM:619847
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia, Retinopathy, Hypospadias	ORPHA:2505
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Phace Association	Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic...	OMIM:606519
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Short stature, Camptodactyly of finger, Holoprosencephaly, Atrial sept...	ORPHA:261236
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a...	OMIM:617913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy	OMIM:616538
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati...	OMIM:610199
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Microcornea, Microphthalmia, Hydronephrosis	OMIM:616449
Seckel Syndrome 9	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect, ...	OMIM:616777
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
Kenny-Caffey Syndrome, Type 2	Papilledema, Developmental cataract, Retinal calcification, Microphthalmia, Anemia	OMIM:127000
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumu...	OMIM:618798
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:611134
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho...	OMIM:227645
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Unilateral renal agenesis, Optic...	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia	OMIM:253800
X-Linked Lissencephaly With Abnormal Genitalia	Agenesis of corpus callosum, Ventricular septal defect, Ventriculomegaly	ORPHA:452
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Holoprosencephaly, Ven...	OMIM:612530
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Embryonal rhabdomyo...	OMIM:257300
Shashi-Pena Syndrome	Mild fetal ventriculomegaly, Atrial septal defect, Intrauterine growth retardation, Ventriculomeg...	OMIM:617190
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Dysplastic corpus callosum, Extra-axial cerebrospinal fluid accumulation, Patent f...	OMIM:619179
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Short stature, Ventriculomegaly	ORPHA:2031
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb...	OMIM:118450
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia	OMIM:600145
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Hydronephrosis, Retinal coloboma, Iris coloboma	ORPHA:2839
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Growth delay, Intrauterine growth retardation, Camptodactyly of finger, Ventriculomegaly	ORPHA:2083
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract, Hydronephrosis	ORPHA:35173
Adams-Oliver Syndrome	Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia...	ORPHA:974
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality	ORPHA:3191
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Increased CSF lactate, Congenital contracture, Intrauterine growth retardati...	OMIM:618397
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasi...	OMIM:601186
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Ventriculomegaly	ORPHA:1933
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Renal hypoplasia/aplasia, Horsesho...	ORPHA:2092
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Choroid plexus cyst, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1827
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret...	OMIM:227646
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Abnormality of the upper urinary tract, Microcorne...	ORPHA:3380
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio...	ORPHA:1692
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Flat occiput, Abnormal cortical gyration, Exencephaly, Brachycephaly, Macrogyria, ...	ORPHA:2211
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Muscular ventricular septal defect, Abnormal heart morphology, Perime...	ORPHA:363444
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defect, Dilated third vent...	ORPHA:464738
Jacobsen Syndrome	Hypospadias, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalm...	OMIM:147791
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Renal cyst, Microphthalmia, Megalocor...	ORPHA:137675
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Desmosterolosis	Severe short stature, Hydrocephalus, Anomalous pulmonary venous return, Growth delay, Intrauterin...	ORPHA:35107
Weaver Syndrome	Diastasis recti, Lateral ventricle dilatation, Camptodactyly, Umbilical hernia, Joint contracture...	OMIM:277590
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Growth delay, Facial diplegia, Hypertrophic cardiomyopathy, Ventri...	OMIM:619121
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Coloboma...	ORPHA:508498
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi...	ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Rena...	OMIM:620005
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry, Optic nerve hypoplasia, Macrocephaly	ORPHA:137634
Oculocerebrocutaneous Syndrome	Hydrocephalus, Congenital diaphragmatic hernia, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Hepatopulmonary fusion, Patent urachus, Micropenis, En...	OMIM:618280
Bainbridge-Ropers Syndrome	Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Contracture of the p...	OMIM:615485
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Growth delay, Macroglossia, Abnormal cardiac septum morphology, Aortic valve ...	ORPHA:96147
Fanconi Anemia, Complementation Group W	Growth delay, Intrauterine growth retardation, Ventriculomegaly	OMIM:617784
Dent Disease	Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Corneal opacity, R...	ORPHA:464
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Vent...	OMIM:614969
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle...	OMIM:312870
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Optic atrophy, Developmental catara...	OMIM:133540
Peho Syndrome	Hydrocephalus, Flexion contracture, Atrophy/Degeneration affecting the brainstem, Arthrogryposis ...	ORPHA:2836
Kleefstra Syndrome Due To A Point Mutation	Umbilical hernia, Short stature, Ventriculomegaly, Abnormal heart morphology	ORPHA:261652
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flexion contracture, Lateral ventricle dilatation, Disproportionate short-limb short stature, Mol...	OMIM:619479
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Ventriculomegaly, Spina bifida	OMIM:616038
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Flexion contracture	ORPHA:2148
Prader-Willi Syndrome Due To Translocation	Short stature, Abnormal heart morphology, Lateral ventricle dilatation, Intrauterine growth retar...	ORPHA:177907
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h...	OMIM:618164
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Umbilical hernia, Patent foramen ovale, Ventriculomegaly	OMIM:251290
Osteopetrosis, Autosomal Recessive 7	Growth delay, Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Generalized limb muscle atrophy, Distal amyotrophy, Lateral...	ORPHA:2822
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Tetralogy of Fallot, Short stature, Ventriculomegaly, Lobar holoprosencephaly	OMIM:614701
Desmosterolosis	Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary ven...	OMIM:602398
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulo...	ORPHA:91500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract, Hypospadias, Horseshoe kidney	ORPHA:65286
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Neutropenia, Microph...	ORPHA:193
Toriello-Carey Syndrome	Ventriculomegaly, Short stature, Postnatal growth retardation, Partial agenesis of the corpus cal...	ORPHA:3338
1Q21.1 Microdeletion Syndrome	Cataract, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris coloboma	ORPHA:250989
Moebius Syndrome	Microphthalmia, Micropenis	OMIM:157900
Aicardi Syndrome	Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plex...	OMIM:304050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Ret...	OMIM:615636
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Microphthalmia, Iris coloboma	ORPHA:2250
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Proportionate short stature, Ventriculomegaly	ORPHA:404443
Pseudotrisomy 13 Syndrome	Renal agenesis, Renal hypoplasia, Micropenis, Microphthalmia, Cyclopia	OMIM:264480
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Ectopic kidney	ORPHA:268249
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic...	ORPHA:42775
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Extra-axial cerebrospinal fluid accumulation, Agenesis of corpus callosum...	OMIM:617669
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Short stature, Partial agenesis of the corpus callosum, Hydrocephalus,...	OMIM:270400
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m...	ORPHA:261197
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Optic atrophy, Abnorma...	ORPHA:2162
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Growth delay, Cardiomyopathy, Muscular dystrophy, Ventriculomegaly	ORPHA:88618
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:544488
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Fanconi Anemia, Complementation Group S	Microphthalmia, Anemia	OMIM:617883
Monosomy 18P	Microphthalmia	ORPHA:1598
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Martsolf Syndrome 1	Microphthalmia, Micropenis, Cataract, Developmental cataract	OMIM:212720
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Intrauterine growth retardation, Ventriculomegaly	OMIM:619355
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Short stature, Double inlet left ventricle, Lateral ventricle dilatatio...	OMIM:619869
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Increased CSF lactate, Agenesis ...	ORPHA:500144
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ...	OMIM:175780
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Agenesis of corpus c...	ORPHA:228308
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Asplenia, Urethral atresia, Microphthalmia	OMIM:273395
Cerebrofacioarticular Syndrome	Short stature, Dysplastic corpus callosum, Abnormal heart morphology, Pulmonic stenosis, Camptoda...	ORPHA:314679
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Hydrocephalus, Flexion contracture, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Craniosynostosis	OMIM:601374
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	OMIM:612394
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hepatomegaly, Retinal pi...	OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Tenorio Syndrome	Macroglossia, Hydrocephalus, Ventriculomegaly	OMIM:616260
Cerebellofaciodental Syndrome	Ventricular septal defect, Short stature, Hypoplasia of the pons, Mitral valve prolapse, Hypoplas...	OMIM:616202
Gillespie Syndrome	Truncus arteriosus, Ventriculomegaly	OMIM:206700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Optic atrophy, Renal cyst, Coloboma, Peters anomaly, Vesicoureteral reflux, Micropht...	OMIM:616975
Cog8-Cdg	Skeletal muscle atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	ORPHA:95428
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Neonatal death, Intrauterine growth retardation, Arthrogryposis multiplex congenita...	OMIM:608013
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Vesicoureteral reflux, Microphthalmia...	ORPHA:2059
Cadds	Intrauterine growth retardation, Ventriculomegaly	ORPHA:369942
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Growth...	OMIM:254940
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Developmental And Epileptic Encephalopathy 5	Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus ca...	OMIM:613477
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract, Hydronephrosis	OMIM:302960
Neu-Laxova Syndrome 1	Ventriculomegaly, Ventricular septal defect, Spina bifida, Choroid plexus cyst, Agenesis of corpu...	OMIM:256520
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Distal Deletion 3P	Short stature, Umbilical hernia, Atrioventricular canal defect, Ventriculomegaly, Intrauterine gr...	ORPHA:1620
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology,...	ORPHA:370997
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Short stature, Rhabdomyosarcoma, Growth delay, Holoprosencephaly, Muscular dyst...	ORPHA:1052
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Diaphragmatic eventration, Hypoplasia of the pons, Hypoplasia of the br...	OMIM:615574
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Neu-Laxova Syndrome	Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Intrauterine grow...	ORPHA:2671
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, ...	ORPHA:2556
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Increased CSF lactate, Decreased CSF copper concentration, Ventriculomegaly, Limb h...	OMIM:620306
Maternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Ventriculomegaly	ORPHA:96181
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphthalmi...	OMIM:223370
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Sifrim-Hitz-Weiss Syndrome	Short stature, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Ventriculome...	OMIM:617159
Osteopetrosis, Autosomal Recessive 5	Short stature, Facial palsy, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly, Limb hype...	OMIM:259720
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall mu...	ORPHA:2462
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoac...	ORPHA:534
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Dilated cardiomyopathy, Disproportionate short-limb short stature, Intrauterine gr...	OMIM:616541
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, CSF lymphocytic pleiocytosis, Cardiomyopathy, Ventriculomegaly	ORPHA:292
Roifman-Chitayat Syndrome	Umbilical hernia, Ventriculomegaly	OMIM:613328
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st...	ORPHA:353277
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
22Q11.2 Deletion Syndrome	Cataract, Hypospadias, Abnormality of the tonsils, Retinal arteriolar tortuosity, Splenomegaly, O...	ORPHA:567
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Cy...	ORPHA:3186
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Phthisis ...	OMIM:300166
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Abnorma...	ORPHA:444072
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Short stature, Coronary artery fistula, Neonatal death, Atrial septal ...	OMIM:620024
Isolated Sedoheptulokinase Deficiency	Short stature, Diastasis recti, Flexion contracture, Severe postnatal growth retardation, Arthrog...	ORPHA:440713
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Patent foramen ovale, Lower limb hypertonia	ORPHA:477993
Sanjad-Sakati Syndrome	Short stature, Postnatal growth retardation, Myopathy, Severe intrauterine growth retardation, Ve...	ORPHA:2323
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Short stature	OMIM:620083
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:618820
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Microphthalmia, Micrope...	OMIM:614083
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum, Ventriculomegaly	OMIM:601707
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Intrauterine grow...	OMIM:610505
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Growth delay, Ventriculomegaly	OMIM:614749
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Hypospadias, Unilateral microphthalmos	OMIM:618874
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Abnorm...	OMIM:300868
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Coloboma, Microphthalmia, Micropenis	OMIM:603457
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hallermann-Streiff Syndrome	Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:234100
Bohring-Opitz Syndrome	Ventriculomegaly, Short stature, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contract...	ORPHA:97297
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro...	ORPHA:1358
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma	ORPHA:251014
Monosomy 9Q22.3	Rhabdomyosarcoma, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Ventriculomegaly	ORPHA:77301
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Cataract, Hydrour...	ORPHA:84
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect	OMIM:263520
Hoyeraal-Hreidarsson Syndrome	Intrauterine growth retardation, Short stature, Ventriculomegaly	ORPHA:3322
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Renal cyst, Polyspl...	OMIM:229850
Trichothiodystrophy	Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Developmental cata...	ORPHA:33364
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias	OMIM:619148
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic...	OMIM:100300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis	OMIM:241410
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Lower limb muscle weakness, Ventriculomegaly	ORPHA:395
Meckel Syndrome 14	Microphthalmia, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contrac...	ORPHA:468631
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Familial Multiple Lipomatosis	Abnormal tricuspid valve morphology, Ventriculomegaly	ORPHA:199276
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Bicuspid aortic valve, Macroglossia, Umbilical hernia, Aortic valve stenosis, Ventriculomegaly	OMIM:614501
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy, Optic atrophy	OMIM:201180
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr...	ORPHA:2166
Alobar Holoprosencephaly	Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep...	ORPHA:220386
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Blau Syndrome	Clear cell renal cell carcinoma, Cataract, Abnormal retinal vascular morphology, Retrobulbar opti...	ORPHA:90340
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Anemia	ORPHA:93325
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Treacher-Collins Syndrome	Hypoplasia of penis, Cataract, Hypoplasia of the thymus, Microphthalmia, Iris coloboma	ORPHA:861
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short stature, Short umbilical cord	OMIM:618367
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:300896
Jacobsen Syndrome	Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int...	ORPHA:2308
Degcags Syndrome	Hepatomegaly, Pancytopenia, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysp...	OMIM:619488
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Opitz Gbbb Syndrome	Ventriculomegaly, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Abno...	ORPHA:2745
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Townes-Brocks Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidney, Renal insufficiency, Ectop...	ORPHA:857
Scalp-Ear-Nipple Syndrome	Cardiac myxoma, Lateral ventricle dilatation, Short stature	OMIM:181270
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers	OMIM:601812
Cousin Syndrome	Microcornea, Microphthalmia, Hydronephrosis	OMIM:260660
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Microphthalmia, Annular pancreas, Zonular cataract	OMIM:268400
Fumarase Deficiency	Choroid plexus cyst, Hypoplasia of the brainstem, Perimembranous ventricular septal defect, Agene...	OMIM:606812
Kabuki Syndrome 1	Short stature, Ventricular septal defect, Postnatal growth retardation, Hydrocephalus, Growth del...	OMIM:147920
Charge Syndrome	Anophthalmia, Cataract, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Micropenis, ...	OMIM:214800
Monosomy 13Q14	Microphthalmia, Iris coloboma, Cataract, Retinoblastoma	ORPHA:1587
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Short stature, Cranial asymmetry, Hemimegalencephaly	OMIM:163200
Lenz-Majewski Hyperostotic Dwarfism	Short stature, Dysplastic corpus callosum, Elbow flexion contracture, Knee flexion contracture, I...	OMIM:151050
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Corneal ...	OMIM:309000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Partia...	OMIM:265380
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Proportionate short stature, Dysplastic corpus callosum, Abnormal h...	ORPHA:500150
Chromosome 13Q14 Deletion Syndrome	Retinoblastoma, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris coloboma	OMIM:613884
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Facial hypotonia, Olivopontocerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Ve...	ORPHA:457284
Gaucher Disease	Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Sho...	ORPHA:355
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal hypoplasia, Renal cyst	OMIM:616300
Roberts Syndrome	Cataract, Long penis, Polycystic kidney dysplasia, Microphthalmia, Thrombocytopenia	ORPHA:3103
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Dilatation of the ventricular cavi...	ORPHA:2177
Bartsocas-Papas Syndrome 1	Ectopic kidney, Micropenis, Popliteal pterygium, Opacification of the corneal stroma, Microphthal...	OMIM:263650
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Neurogenic bladder, Cataract	OMIM:164200
Crane-Heise Syndrome	Intrauterine growth retardation, Ventriculomegaly	ORPHA:1512
Renpenning Syndrome 1	Cataract, Hypospadias, Phimosis, Renal hypoplasia, Coloboma, Microphthalmia	OMIM:309500
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Holoprosencephaly 3	Holoprosencephaly, Ventriculomegaly	OMIM:142945
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:618222
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Hypospadias, Renal agenesis, Duplication of internal organs, Renal cyst, ...	OMIM:113620
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Optic disc coloboma, Prolonged neonatal jaundice, Microphthalmia, Iris col...	OMIM:620186
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Ectopia lentis, Optic atrophy, Horseshoe kidney, Hydronephros...	OMIM:305600
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Flexion contracture	OMIM:614098
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia, Horseshoe kidney	ORPHA:1106
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Schinzel-Giedion Syndrome	Choroid plexus cyst, Abnormal heart morphology, Neural tube defect, Macroglossia, Camptodactyly, ...	ORPHA:798
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Costello Syndrome	Ventricular septal defect, Short stature, Rhabdomyosarcoma, Hydrocephalus, Achilles tendon contra...	OMIM:218040
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Knee flexion contracture, Colpocephaly, Atrial septal...	OMIM:606170
Ring Chromosome 7 Syndrome	Short stature, Situs inversus totalis, Holoprosencephaly, Severe intrauterine growth retardation,...	ORPHA:1449
Hallermann-Streiff Syndrome	Microphthalmia, Abdominal situs inversus, Developmental cataract	ORPHA:2108
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Congenital Myopathy 13	Skeletal muscle atrophy, Short stature, Fatty replacement of skeletal muscle, Flexion contracture...	OMIM:255995
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Renal hypoplasia, Microcornea, Coloboma, Microphth...	OMIM:607932
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Hypospadias, Long penis, Biliary tract abnormality, ...	OMIM:268300
Holoprosencephaly 9	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Peters Plus Syndrome	Short stature, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Bicuspid pulmonary valve,...	ORPHA:709
Meester-Loeys Syndrome	Short stature, Mitral valve prolapse, Camptodactyly, Umbilical hernia, Joint contracture, Ventric...	OMIM:300989
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypospadias, Antecubital pterygium, Horseshoe kidney, Popliteal pterygium, Microphthalmia, Microp...	OMIM:609945
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Growth delay, Bacterial en...	ORPHA:2072
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Lateral ventricle dilatation, Distal a...	ORPHA:2388
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, We...	ORPHA:261552
Yunis-Varon Syndrome	Cataract, Hypospadias, Sclerocornea, Cardiomegaly, Bilateral microphthalmos, Renovascular hyperte...	ORPHA:3472
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventricular septal defect, Short stature, Hydrocephalus, Growth delay, Sev...	OMIM:194190
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, R...	OMIM:219000
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia, Hypospadias, Ureterocele	OMIM:616734
Mowat-Wilson Syndrome	Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Chorioretinal co...	OMIM:235730
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Micropenis, Absent gallbladder	OMIM:617925
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Webbed penis, Asplenia...	ORPHA:261537
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Renal hypo...	OMIM:309800
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Webbed penis, Abnormal...	ORPHA:2152
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth...	ORPHA:508488
Hydrolethalus Syndrome 1	Accessory spleen, Microphthalmia, Hypospadias, Hydronephrosis	OMIM:236680
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Growth delay, Ventriculomegaly, Increased CSF lactate	OMIM:617248
Monosomy 9P	Microphthalmia, Ureteropelvic junction obstruction, Hypospadias	ORPHA:261112
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U...	ORPHA:2052
Myhre Syndrome	Microphthalmia, Cataract	OMIM:139210
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Witteveen-Kolk Syndrome	Cataract, Hypospadias, Phimosis, Anisocoria, Male urethral meatus stenosis, Microphallus, Microph...	OMIM:613406
Holoprosencephaly 1	Microphthalmia, Cyclopia, Micropenis	OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Wiedemann-Rautenstrauch Syndrome	Thickened calvaria, Frontal bossing, Relative macrocephaly, Short stature, Hydrocephalus, Cranial...	ORPHA:3455
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Microphthalmia, Micropenis	OMIM:612289
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,...	ORPHA:672
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux...	OMIM:164210
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Infantile Spasms Syndrome		ORPHA:3451

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sptan1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sptan1.

No publications found that use IMPC mice or data for Sptan1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sptan1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Sptan1^tm1aNarl	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Sptan1 MGI:98386

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E9.5

X-ray

Gross Morphology Embryo E9.5

MicroCT E14.5-E15.5

Human diseases caused by Sptan1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data