Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Sptan1em1(IMPC)Mbp HET E15.5 0.00
abnormal retina vasculature morphology Sptan1em1(IMPC)Mbp HET Early adult 2.09×10-05
preweaning lethality, complete penetrance Sptan1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube closure Sptan1em1(IMPC)Mbp HOM E9.5 0.00
microcephaly Sptan1em1(IMPC)Mbp HOM E15.5 0.00
abnormal forebrain development Sptan1em1(IMPC)Mbp HOM E9.5 0.00
abnormal spleen morphology Sptan1em1(IMPC)Mbp HET Early adult 0.00
abnormal head shape Sptan1em1(IMPC)Mbp HOM E15.5 0.00
cataract Sptan1em1(IMPC)Mbp HET   Early adult 8.45×10-07
enlarged kidney Sptan1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Sptan1em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Sptan1em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Sptan1em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Sptan1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Sptan1em1(IMPC)Mbp HOM E15.5 0.00
abnormal visceral yolk sac morphology Sptan1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Sptan1em1(IMPC)Mbp HOM E9.5 0.00
edema Sptan1em1(IMPC)Mbp HOM E15.5 0.00
abnormal midbrain development Sptan1em1(IMPC)Mbp HOM E9.5 0.00
decreased body length Sptan1em1(IMPC)Mbp HET Early adult 3.57×10-07
microphthalmia Sptan1em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Sptan1em1(IMPC)Mbp HOM E9.5 0.00
abnormal eye morphology Sptan1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Sptan1em1(IMPC)Mbp HET   Early adult 3.84×10-07
abnormal vitreous body morphology Sptan1em1(IMPC)Mbp HET   Early adult 4.77×10-07

Download data as:  TSV  XLS

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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

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

MicroCT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

5 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 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.

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 Similarity of
phenotypes
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