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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

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
embryonic growth retardation	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal neural tube morphology	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
edema	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal head shape	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged kidney	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Sptan1^em1(IMPC)Mbp	HET	Early adult	7.52×10^-05
abnormal spleen morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal midbrain development	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
microcephaly	Sptan1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal retina vasculature morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	8.41×10^-06
abnormal eye morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Sptan1^em1(IMPC)Mbp	HET	Early adult	5.83×10^-05
abnormal placenta morphology	Sptan1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal vitreous body morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05
preweaning lethality, complete penetrance	Sptan1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Sptan1^em1(IMPC)Mbp	HET	Early adult	3.52×10^-07
abnormal forebrain development	Sptan1^em1(IMPC)Mbp	HOM	E9.5	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
microphthalmia	Sptan1^em1(IMPC)Mbp	HET	E15.5	0.00
microphthalmia	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal visceral yolk sac morphology	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal kidney morphology	Sptan1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube closure	Sptan1^em1(IMPC)Mbp	HOM	E9.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E9.5

Images

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

26 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Sptan1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Sptan1 (5 diseases)
Human diseases predicted to be associated with Sptan1 (1434 diseases)

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

Disease	Matching phenotypes	Source
Developmental And Epileptic Encephalopathy 5	Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Reduced cerebral w...	OMIM:613477
Developmental Delay With Or Without Epilepsy	Microcephaly	OMIM:620540
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Microcephaly	OMIM:620538
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Distal lower limb muscle weakness, Claw hand deformity, Upper limb muscle weakness, Upper limb am...	OMIM:620528
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	Type II lissencephaly, Neural tube defect	OMIM:615041
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Stillbirth, Abnormal heart morphology, Hydrocephalus	OMIM:276950
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/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	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Skeletal muscle atrophy	ORPHA:275543
Frontal Encephalocele	Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Dolichocephaly,...	ORPHA:1931
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma	OMIM:616428
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto...	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma	OMIM:120433
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas...	ORPHA:231736
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid...	OMIM:611040
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia	ORPHA:2432
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Microphthalmia	OMIM:251700
Lissencephaly 4	Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature	OMIM:614019
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly	ORPHA:2185
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,...	OMIM:305390
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Vitreous hemorrhage, Chor...	ORPHA:891
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Aqueductal stenosis	ORPHA:3035
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly	ORPHA:79281
Bardet-Biedl Syndrome 18	Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar...	OMIM:251270
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Alobar holoprosence...	OMIM:619895
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cystic renal dysplasia	OMIM:613730
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment, Subretina...	ORPHA:209956
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Flexion contracture, Ventriculomegaly	OMIM:304340
Foveal Hypoplasia 2	Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ...	OMIM:609218
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Short stature	ORPHA:1532
Galloway-Mowat Syndrome	Intrauterine growth retardation, Aqueductal stenosis, Camptodactyly of finger, Short stature	ORPHA:2065
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac...	OMIM:267760
Congenital Herpes Simplex Virus Infection	Microcephaly, Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Morm Syndrome	Abnormality of the kidney, Retinal dystrophy, Retinal atrophy, Cataract, Micropenis	ORPHA:75858
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Acrofacial Dysostosis, Rodríguez Type	Intrauterine growth retardation, Aqueductal stenosis	ORPHA:1788
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, Coloboma, Developmental ca...	ORPHA:324416
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Bowen-Conradi Syndrome	Severe postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Campt...	ORPHA:1270
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly, Hypoplasia of the brainstem, Lower limb muscle weakness	OMIM:620106
Nanophthalmos 4	Microphthalmia	OMIM:615972
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g...	OMIM:306955
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach...	ORPHA:179
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Aqueductal stenosis, Neonatal death	OMIM:251230
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Dandy-Wal...	OMIM:616602
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r...	ORPHA:190
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum, Dysplastic corpus callosum	OMIM:604213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa...	OMIM:616171
Porencephaly	Ventriculomegaly	ORPHA:2940
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic ner...	OMIM:618736
Central Retinal Vein Occlusion	Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott...	ORPHA:411527
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin...	OMIM:193220
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Band Heterotopia	Plagiocephaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Subcorti...	OMIM:600348
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Neurooculorenal Syndrome	Postnatal growth retardation, Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmona...	OMIM:620305
Cat-Eye Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hydronephrosis, Chorioretinal coloboma, Abnormal locali...	ORPHA:195
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay	ORPHA:488635
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Ventriculomegaly, Hypoplasia of the brainstem	OMIM:615763
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Coloboma	OMIM:274270
Microcephaly-Cardiomyopathy Syndrome	Short stature, Intrauterine growth retardation, Ventriculomegaly, Dilated cardiomyopathy, Ventric...	ORPHA:2515
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem	OMIM:618677
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Microcephaly 19, Primary, Autosomal Recessive	Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation	OMIM:617800
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Microcephaly, Diffuse cerebral atrophy, Flat occiput	ORPHA:2898
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Congenital hepatic fibr...	ORPHA:3156
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Ventriculomegaly, Restrictive cardiomyopathy, Left ventricular hypertrophy	OMIM:115210
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida	ORPHA:3412
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Masa Syndrome	Short stature, Ventriculomegaly, Camptodactyly of finger, Agenesis of corpus callosum	ORPHA:2466
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentat...	ORPHA:290
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma	OMIM:610023
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Colo...	ORPHA:2334
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Cerebral cortical atrophy, Prominent occiput	ORPHA:1665
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Joubert Syndrome 22	Renal hypoplasia, Coloboma, Microphthalmia, Retinal dysplasia	OMIM:615665
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Ventriculomegaly, Arthrogryposis multiplex congenita, Agenesis o...	OMIM:616570
Adenylosuccinate Lyase Deficiency	Microcephaly, Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly	ORPHA:46
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Abnormality of retinal ...	ORPHA:858
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Lateral vent...	OMIM:616816
Papillorenal Syndrome	Microphthalmia, Stage 5 chronic kidney disease, Renal malrotation, Macular degeneration, Lens lux...	OMIM:120330
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Elongated superior cerebellar peduncle, Hydrocephalus, Hypoplasia of the pon...	OMIM:619512
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Leber Congenital Amaurosis 1	Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel...	OMIM:204000
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membran...	OMIM:221900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg...	OMIM:617303
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Galactosuria	OMIM:230200
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Type II lissencephaly, Dolichocephaly, Intrauterine ...	ORPHA:272
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:300915
Retinopathy Of Prematurity	Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ...	ORPHA:90050
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Intrauter...	OMIM:616034
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Arthrogryposis multiplex congenita, Agenesis of corpus callosum	OMIM:619501
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus ...	OMIM:620200
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Ventriculomegaly, Enlarged sylvian cistern	ORPHA:1084
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Brachycephaly	OMIM:612247
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting...	ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, Short stature, Growth delay	ORPHA:2528
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Coloboma, Microphthalmia, Cataract	ORPHA:1617
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature	OMIM:303350
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Cofs Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Cataract	ORPHA:1466
Alexander Disease	Hydrocephalus, Aqueductal stenosis, Facial palsy, Agenesis of corpus callosum	ORPHA:58
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly	OMIM:612691
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Lissencephaly 1	Ventriculomegaly, Hypoplasia of the brainstem	OMIM:607432
Global Developmental Delay With Or Without Impaired Intellectual Development	Short stature, Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation	OMIM:618330
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Brachycephaly, Hydrocephalus, Brachyturricephaly, Short statur...	OMIM:218350
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria, Macrocephaly	ORPHA:178377
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microcornea, C...	OMIM:610125
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Agenesis of cerebellar v...	ORPHA:228390
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Skeletal muscle atrophy	OMIM:613402
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, Short stature, Tetralogy of ...	OMIM:154400
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Ventriculomegaly	ORPHA:1980
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Frontal cortical atrophy, Macrocephaly, Brachycephaly	OMIM:300699
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant...	OMIM:609049
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Short stature, Ventriculomegaly	ORPHA:3207
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Pontocerebellar Hypoplasia, Type 12	Joint contracture, Hypoplasia of the brainstem, Lateral ventricle dilatation	OMIM:618266
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Hydrocephalus, Agenesis of corpu...	OMIM:618577
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:500166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Retinal detachment, Coloboma, Corneal opacity, Left ventricular hypertrophy, Cata...	OMIM:613153
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Ventriculomegaly, Agenesis of corpus callosum	ORPHA:171703
Neurofibromatosis, Type I	Aqueductal stenosis, Rhabdomyosarcoma, Hydrocephalus, Spina bifida, Short stature	OMIM:162200
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Megalencephaly, Macrocephaly, Microcephaly, Short stature, Frontal bossing, Umbili...	OMIM:600325
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M...	OMIM:612109
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe	OMIM:619323
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb amyotrophy, Colpocephaly, Limb hypertonia	ORPHA:401815
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Non-Distal Duplication 10Q	Microcephaly, Frontal bossing, Brachycephaly, Short stature	ORPHA:1695
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Ventriculomegaly, Atrial septal defect, Ventricular septa...	ORPHA:1388
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Macdermot-Winter Syndrome	Intrauterine growth retardation, Ventriculomegaly, Camptodactyly of finger	OMIM:247990
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ...	OMIM:152950
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly, Hypoplasia of the brainstem	OMIM:618730
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Martsolf Syndrome 2	Short stature, Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation	OMIM:619420
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Alobar holoprosencephaly, Dolichocephaly, Agenesis of corpus callosum	OMIM:615433
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Calf muscle hypertrophy, Scapular winging, Proximal amyotrophy, Reduced muscle fiber alpha dystro...	ORPHA:206559
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Flexion contracture...	ORPHA:79243
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Short stature	ORPHA:320385
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed...	OMIM:600059
Charge Syndrome	Postnatal growth retardation, Aqueductal stenosis, Delayed puberty, Abnormal aortic valve morphol...	ORPHA:138
Biemond Syndrome Type 2	Coloboma, Microphthalmia, Hypospadias	ORPHA:141333
Bonnemann-Meinecke-Reich Syndrome	Short stature, Ventriculomegaly	ORPHA:1261
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation, Umbilical hernia, Bicuspid aortic valve, ...	OMIM:617751
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou...	ORPHA:40923
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Cardiomega...	OMIM:608836
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Communicating hydrocephalus, Right atrial enlargement, Colpocephaly, Agenesis of c...	OMIM:615219
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly, Facial hypotonia	OMIM:618383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract	OMIM:615181
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Ventriculomegaly, Agenesis of corpus callosum	OMIM:608716
Craniodigital-Intellectual Disability Syndrome	Short stature, Brachycephaly, Spina bifida occulta	ORPHA:1514
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Short stature	OMIM:615031
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Hypoplasia of the corpus callosum, Plagiocephaly, Cerebellar vermis hypoplasia, Frontal polymicro...	OMIM:614563
Mmep Syndrome	Microphthalmia	ORPHA:3434
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Generalized amyotrophy, Agenesis of corpus callosum	OMIM:616540
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Short stature, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	OMIM:617862
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocorn...	OMIM:243605
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Hypoplasia of the corpus callosum, Plagiocephaly, Polyhydramnios, Increased nuchal...	OMIM:618862
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Microcephaly, Short stature, Holoprosencephaly, Craniosynostosis	ORPHA:2163
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Semilobar holoprosencephaly, Perimembranous ventricular septal d...	OMIM:618651
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Cataract, Hepatic steatosis, Microcytic anemia	OMIM:618805
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cerebral atrophy, Brachycephaly, Turricephaly, Abnormal septum pellucidum morphology, Hydrocephal...	ORPHA:171839
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Aqueductal stenosis, Cleft anterior mitral valve leaflet, Hydrocephalu...	OMIM:616462
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Nance-Horan Syndrome	Retinal detachment, Microcornea, Microphthalmia, Cataract	ORPHA:627
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco...	OMIM:615145
Exudative Vitreoretinopathy 6	Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret...	OMIM:616468
Pontocerebellar Hypoplasia, Type 3	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Progressive microcephaly, Red...	OMIM:608027
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Macular dystrophy, Abnormal retinal morphology on macular OCT, Episodic hemolyti...	ORPHA:251004
Hemimegalencephaly	Hyperintensity of cerebral white matter on MRI, Macrocephaly, Polymicrogyria, Cranial asymmetry, ...	ORPHA:99802
Pontocerebellar Hypoplasia, Type 1A	Distal amyotrophy, Spinal muscular atrophy, Congenital contracture, Hypoplasia of the pons, Hypop...	OMIM:607596
Refsum Disease	Microphthalmia, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Cataract, Renal i...	ORPHA:773
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Macrocephaly, Agenesis of corpus callosum	ORPHA:459074
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Muscular dystrophy, Hydrocephalus, Abnormal brainstem morphology, Calf m...	ORPHA:370959
Chromosome 6Q24-Q25 Deletion Syndrome	Dysplastic pulmonary valve, Hydrocephalus, Right ventricular dilatation, Growth delay, Mitral val...	OMIM:612863
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Colpocephaly, Agenesis of corpus callosum, Left ventri...	OMIM:618619
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Microcephaly, Short stature, Umbilical hernia, Intrauterine growth retardation	OMIM:615834
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellulari...	OMIM:301108
Joubert Syndrome 3	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis...	OMIM:608629
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Congenital contracture, Growth delay, Colpocephaly, Agenesis of corpus callosum, V...	OMIM:620156
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Ventriculomegaly	OMIM:617613
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom...	ORPHA:139471
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Lissencephaly 3	Ventriculomegaly, Hypoplasia of the brainstem, Agenesis of corpus callosum	OMIM:611603
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Arthrogryposis multiplex cong...	OMIM:618291
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Microcephaly 17, Primary, Autosomal Recessive	Short stature, Ventriculomegaly, Hypoplasia of the brainstem, Agenesis of corpus callosum	OMIM:617090
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardation	OMIM:610333
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Microhydranencephaly	Hydranencephaly, Short stature, Growth delay, Generalized amyotrophy, Skeletal muscle atrophy, Ag...	OMIM:605013
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal h...	ORPHA:85284
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the musculature, Joint c...	OMIM:225790
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Short stature, Colpocephaly, Distal arthrogryposis, Intrauterine growth retardatio...	OMIM:619833
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Kleefstra Syndrome 2	Microcephaly, Plagiocephaly, Growth delay	OMIM:617768
Warburg Micro Syndrome 1	Optic atrophy, Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Abnormal...	ORPHA:505248
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Microphthalmia-Brain Atrophy Syndrome	Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Abnormal pons morphology	ORPHA:77299
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ...	OMIM:620315
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Limb joint contracture, Lateral ventricle dilatation, Knee flexion con...	ORPHA:284417
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Lissencephaly 8	Optic atrophy, Microphthalmia, Cataract	OMIM:617255
Biliary, Renal, Neurologic, And Skeletal Syndrome	Situs inversus totalis, Aqueductal stenosis, Atrioventricular canal defect, Inlet ventricular sep...	OMIM:619534
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Co...	ORPHA:2788
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly	ORPHA:1568
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Frontal bossing, Aplasia/Hypoplasia of the cerebellum	ORPHA:93262
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	ORPHA:85179
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Glutamine Deficiency, Congenital	Decreased CSF glutamine concentration, Subependymal cysts, Camptodactyly, Neonatal death, Flexion...	OMIM:610015
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Muenke Syndrome	Brachycephaly, Plagiocephaly, Macrocephaly, Hydrocephalus, Coronal craniosynostosis	ORPHA:53271
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Microcep...	ORPHA:1908
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Monosomy 18P	Brachycephaly, Lymphedema, Microcephaly, Short stature, Holoprosencephaly	ORPHA:1598
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacem...	ORPHA:3378
Cach Syndrome	Atrophy/Degeneration affecting the brainstem, Growth delay, Flexion contracture, Lateral ventricl...	ORPHA:135
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retina...	ORPHA:899
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain...	ORPHA:300573
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Polyhydramnios	ORPHA:521390
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Microcephaly, Brachycephaly, Short stature	OMIM:309541
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Camptodactyly of finger, Growth delay, Intrauterine growth retardation, Ventriculo...	ORPHA:1495
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
H Syndrome	Corneal arcus, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, M...	ORPHA:168569
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Intrauterine growth retardation, Ventriculomegaly, Ven...	ORPHA:2772
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydrocephalus, Relative m...	ORPHA:459061
Slc35A2-Cdg	Dandy-Walker malformation, Atrophy/Degeneration affecting the brainstem, Abnormal midbrain morpho...	ORPHA:356961
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Spina bifida, Microcephaly, Short stature, Intrauterine growth retardation	ORPHA:1327
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Coloboma, Cataract, Microcytic anemia	OMIM:612379
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Short stature, Colpocephaly, Agenesis of corpus callosum, Intrauterine grow...	OMIM:609053
Crouzon Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Frontal bossing, Ce...	ORPHA:207
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Cardiomyopathy, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ...	OMIM:600721
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Hypoplasia...	OMIM:613154
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Macrocephaly, Hydrocephalus, Short stature, Agenesis of corpus callosum	OMIM:109120
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Astigmatism, Chronic neutropenia, Retinal coloboma, Nephroblastoma, Transient ne...	ORPHA:500095
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Microcephaly, Cerebral cortical atrophy, Multif...	ORPHA:352530
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Elevated urinary 3-hydrox...	OMIM:614105
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Alg3-Cdg	Hypoplasia of the corpus callosum, Neural tube defect, Dandy-Walker malformation, Cerebral white ...	ORPHA:79321
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Frontonasal Dysplasia 2	Hypoplasia of the corpus callosum, Brachycephaly, Encephalocele, Cerebellar vermis hypoplasia, Pa...	OMIM:613451
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Hydrocephalus, Cranial asymmetry, Microcephaly, Growth delay, Short stature, Sc...	OMIM:614886
Pentasomy X	Microcephaly, Plagiocephaly, Delayed puberty, Short stature	ORPHA:11
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract, Retinal dystrophy	OMIM:613155
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:1777
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne...	ORPHA:449395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Coloboma, Cataract, Retinal degeneration	OMIM:615249
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Iris hypopigmentation, Cataract	ORPHA:85194
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Dandy-Walker malformation, Dilated fourth ventricle, Contrac...	ORPHA:3078
Intellectual Developmental Disorder, Autosomal Dominant 74	Microcephaly, Brachycephaly, Intrauterine growth retardation	OMIM:620688
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Increased CSF lactate, Abnormal CSF pyruvate family amino acid con...	ORPHA:255182
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Agenesis of corpus...	OMIM:618603
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
X-Linked Intellectual Disability, Sutherland-Haan Type	Microcephaly, Brachycephaly, Short stature	ORPHA:93950
Congenital Muscular Dystrophy With Intellectual Disability	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Ab...	ORPHA:370968
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum	OMIM:304100
Williams-Beuren Region Duplication Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Cerebellar vermis hypoplasia, Hyd...	OMIM:609757
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Isolated Posterior Meningocele	Increased head circumference, Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomy...	ORPHA:268810
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Short stature, Holoprosencephaly, Ventriculomegaly, Atrial septal d...	ORPHA:93274
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excr...	OMIM:256550
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Brachycephaly, Microcephaly, Short stature, Intrauterine growth ret...	OMIM:300590
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Horseshoe kidney	OMIM:619318
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Short stature, Intrauterine growth retardation, Craniosynostosis, Ol...	ORPHA:2145
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Brachycephaly, Plagioc...	OMIM:616801
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Hypoplasia of the pons, Cerebellar hypoplasia, Macrocephaly, Plagiocephaly	OMIM:607313
Micro Syndrome	Optic atrophy, Microphthalmia, Hypoplasia of penis, Microcornea, Retinal coloboma, Abnormality of...	ORPHA:2510
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen...	OMIM:203780
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca	ORPHA:79128
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Patent foramen ovale, Short stature, Colpocephaly, Agenesis of corp...	OMIM:620113
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased CSF lactate, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Ventri...	OMIM:619051
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Plagiocephaly, Hydrocephalus, Microcephaly, Agenesis of corpus...	OMIM:616362
Congenital Fibrinogen Deficiency	Microphthalmia, Splenic rupture, Developmental cataract, Right ventricular hypertrophy, Left vent...	ORPHA:335
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Ventriculomegaly	ORPHA:939
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, P...	OMIM:618914
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Abnormal muscle fiber morphology, Camptodactyly of toe, Abnormal heart morphology,...	OMIM:175700
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Coloboma, Peters anomaly, Microphthalmia	OMIM:618652
Houge-Janssens Syndrome 3	Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Microcephaly, Frontal bossing, Um...	OMIM:618354
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Microcephaly, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly	OMIM:615419
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Adams-Oliver Syndrome 2	Hydrocephalus, Limb hypertonia, Lateral ventricle dilatation	OMIM:614219
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Macrocephaly	OMIM:618725
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Microcephaly, Plagiocephaly, Increased nuchal translucency	ORPHA:77300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Polymicrogyria, Abnormal perivent...	ORPHA:500159
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Hydrocephalus, Dandy-Walker malformation, Intrauterine growth r...	OMIM:220210
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Renal insuffic...	ORPHA:79312
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,...	ORPHA:1120
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Lower limb hypertonia, Dextrotransposition of the great arteries, Lateral ventricl...	OMIM:619995
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract, Mesangial hypercellularity, Nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:620425
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Hydrocephalus, Intrauterine growth retardation, Ventri...	ORPHA:2655
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly	OMIM:618859
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atrophy, Facial dipl...	ORPHA:370980
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Houge-Janssens Syndrome 1	Facial hypotonia, Hydrocephalus, Congenital muscular torticollis, Intrauterine growth retardation...	OMIM:616355
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Cerebrooculofacioskeletal Syndrome 2	Cataract, Microphthalmia, Developmental cataract, Micropenis	OMIM:610756
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen...	OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Hypoplasia of the pons, Ventriculomegaly, Muscular dystrophy	OMIM:613151
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ...	ORPHA:2547
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, Flat occiput, Microcephaly, Short stature, Growth de...	OMIM:613792
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, ...	ORPHA:568
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Cerebral cortical atrophy, Abnorm...	OMIM:617481
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Plagiocephaly, Microcephaly	OMIM:618008
Pierpont Syndrome	Microcornea, Microphthalmia, Micropenis	OMIM:602342
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly, Thin corpus callosum, Progressive microcephaly, Microcephaly, Cerebral cortical at...	OMIM:620240
Richieri-Costa/Guion-Almeida Syndrome	Microcephaly, Brachycephaly, Spina bifida occulta, Short stature	OMIM:268850
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Vesicoureteral reflux, Chorioretinal col...	ORPHA:494344
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Joubert Syndrome 9	Ventriculomegaly, Molar tooth sign on MRI, Encephalocele	OMIM:612285
Intermediate Uveitis	Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V...	ORPHA:279914
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria	OMIM:619053
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microphthalmia, Astigmatism	OMIM:619694
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Pleural effusion, Pericard...	OMIM:617822
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Ventriculomegaly, Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Knee ...	OMIM:616531
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Mulibrey Nanism	Pericardial constriction, Short stature, Growth delay, Myocardial fibrosis, Cardiomegaly, Ventric...	OMIM:253250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Retinal detachment, Cataract, Hypopigmentation of the fundus, Oligosacchariduria	ORPHA:163649
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Autosomal Recessive Primary Microcephaly	Growth delay, Ventriculomegaly, Agenesis of corpus callosum, Short stature	ORPHA:2512
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Plagiocephaly, Polyhydramnios, S...	OMIM:617360
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Molar tooth sign on MRI, Rhizomelic leg shortening, Elongated superior c...	ORPHA:397715
Temtamy Syndrome	Microphthalmia, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Iris coloboma	OMIM:218340
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Polymicrogyria, Platystencephaly, Dolichocephaly	OMIM:618774
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Cataract, Multicystic kidney d...	ORPHA:3301
Bilateral Generalized Polymicrogyria	Short stature, Lateral ventricle dilatation, Growth delay	ORPHA:208447
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Short stature, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops...	OMIM:618265
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Type II lissencephaly, Primary microcephaly, Cerebellar vermis hypoplasia...	ORPHA:300570
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation	OMIM:615716
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Shoulder...	OMIM:606612
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Microcornea, Shallow anterior chamber, Developmental cataract, Cat...	OMIM:614222
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Plagiocephaly, Brachycephaly, Prominent occiput, Dolichocephal...	OMIM:618672
Developmental And Epileptic Encephalopathy 1	Microcephaly, Plagiocephaly, Global brain atrophy, Growth delay	OMIM:308350
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Camptodactyly, Pulmonic stenosis, Growth delay, Tetralogy of Fallot...	OMIM:179613
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Orofaciodigital Syndrome Xv	Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Potocki-Shaffer Syndrome	Delayed puberty, Parietal foramina, Brachycephaly	ORPHA:52022
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
Muenke Syndrome	Brachycephaly, Plagiocephaly, Macrocephaly, Cloverleaf skull, Short stature, Coronal craniosynost...	OMIM:602849
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb hypertonia, Cardiomyopathy, Dilated fourth ventricle, Generalized amyotrophy, Lateral ventri...	ORPHA:572798
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c...	ORPHA:414
Trisomy 5P	Short stature, Ventriculomegaly	ORPHA:1742
Amyloidosis, Finnish Type	Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Renal glomerular a...	OMIM:105120
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Coloboma, Microcornea, Sclerocornea, Ectopia pupillae,...	OMIM:615877
Mitochondrial Complex I Deficiency, Nuclear Type 6	Ventriculomegaly, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:618228
6Q25 Microdeletion Syndrome	Microcephaly, Plagiocephaly, Agenesis of corpus callosum, Short stature	ORPHA:251056
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Macrocephaly, Microcephaly, Frontal bossing, Short stature, Dolicho...	OMIM:619721
Clark-Baraitser Syndrome	Microcephaly, Dolichocephaly, Brachycephaly	OMIM:617752
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope...	ORPHA:294
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Microcephaly, Agenesis of corpus callosum, Intr...	OMIM:618142
Chopra-Amiel-Gordon Syndrome	Postnatal growth retardation, Brachycephaly, Macrocephaly, Microcephaly, Short stature	OMIM:619504
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Ureteral duplication, Multicyst...	ORPHA:564
Cataract-Intellectual Disability-Hypogonadism Syndrome	Microcephaly, Cerebral cortical atrophy, Brachycephaly, Short stature	ORPHA:1387
Holoprosencephaly 7	Semilobar holoprosencephaly, Macrocephaly, Alobar holoprosencephaly, Hydrocephalus, Cranial asymm...	OMIM:610828
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly, Skeletal muscle atrophy	OMIM:618251
Frontonasal Dysplasia 1	Cataract, Coloboma, Microphthalmia	OMIM:136760
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Keratoconjunctivitis sicca, Hydroureter, Unilateral renal agenesis,...	ORPHA:90324
Congenital Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Hepatomegaly, Yellow/white lesions of the retina, Corne...	ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Hydrocephalus, Spina bifida, Microcephaly, Diffuse ce...	OMIM:613776
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Coloboma, Microcornea, Cataract	OMIM:617306
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Biparietal narrowing, Microcephaly, Short stature, Frontal bossing, Umbilical hern...	ORPHA:1292
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Macrocephaly, Spina bifida occulta, Cerebral calcification, Frontal bossing, Sever...	ORPHA:2780
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Ventriculomegaly, Severe short stature	ORPHA:2643
Acro-Renal-Ocular Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Optic disc hypoplasia, Coloboma, Microcornea, Vesicoure...	ORPHA:959
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Cataract, Micropenis	OMIM:614225
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Hypoplasia of penis, Retinal coloboma	ORPHA:2328
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Craniofrontonasal Dysplasia	Brachycephaly, Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Frontal bossing, C...	ORPHA:1520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Skeletal muscle atrophy, Knee flexion contracture, Ventriculomegaly, Atrial septal...	OMIM:603387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Ventriculomegaly, Ventricular septal defect, Postnatal growth retardation	OMIM:620210
Ataxia-Deafness-Intellectual Disability Syndrome	Ventriculomegaly, Skeletal muscle atrophy	ORPHA:1188
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Megalencephaly, Macrocephaly, Polyhydramnios, Hydrocephalus, Microce...	OMIM:613603
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Attenuation of retinal bloo...	OMIM:614376
1Q44 Microdeletion Syndrome	Hydrocephalus, Short stature, Growth delay, Agenesis of corpus callosum, Ventriculomegaly, Abnorm...	ORPHA:238769
Even-Plus Syndrome	Dysplastic corpus callosum, Brachycephaly, Severe short stature, Agenesis of corpus callosum, Oli...	OMIM:616854
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Facial palsy, Flexion contracture, Left ventricu...	OMIM:613156
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Microphthalmia, Coloboma, Retinal atrophy, Corneal opacity, Cone/cone-rod dystr...	ORPHA:85167
Combined Oxidative Phosphorylation Defect Type 39	Limb hypertonia, Congenital foot contractures, Increased CSF lactate, Atrophy/Degeneration affect...	ORPHA:565624
Brain Small Vessel Disease 2	Growth delay, Ventriculomegaly	OMIM:614483
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
20P12.3 Microdeletion Syndrome	Short stature, Ventriculomegaly, Atrial septal defect	ORPHA:261295
Frontofacionasal Dysplasia	Hypoplasia of the corpus callosum, Brachycephaly, Encephalocele, Short stature, Hypoplasia of olf...	ORPHA:1791
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Microcephaly, Flat occiput, Severe short stature, Brachycephaly	ORPHA:2511
Multiple Mitochondrial Dysfunctions Syndrome 3	Increased CSF lactate, Increased CSF glycine concentration, Intrauterine growth retardation, Vent...	OMIM:615330
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Pontocerebellar atrophy, Dilated fourth ventricle, Agenesis of corpus callosum, Intrauterine grow...	OMIM:620428
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale, Lateral ventricle dilatation	OMIM:620075
Summitt Syndrome	Plagiocephaly, Macrocephaly, Craniosynostosis	ORPHA:3210
Congenital Disorder Of Glycosylation, Type Il	Cerebral atrophy, Brachycephaly, Global brain atrophy, Hydrops fetalis, Ascites, Microcephaly, Fr...	OMIM:608776
Warburg Micro Syndrome 4	Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Micropenis	OMIM:615663
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Noonan Syndrome 12	Ventriculomegaly, Ventricular septal defect, Tetralogy of Fallot	OMIM:618624
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Intellectual Developmental Disorder, Autosomal Dominant 56	Hypomimic face, Pontocerebellar atrophy, Lateral ventricle dilatation	OMIM:617854
Neurodevelopmental Disorder With Dystonia And Seizures	Intrauterine growth retardation, Ventriculomegaly	OMIM:619922
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Short stature, Ventriculomegaly, Agenesis of corpus callosum	OMIM:615286
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Congenital Heart Defects And Ectodermal Dysplasia	Microcephaly, Frontal bossing, Brachycephaly	OMIM:617364
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Renal dysplasia, Retinal coloboma, Cataract	OMIM:618571
Prune1-Related Neurological Syndrome	Microcephaly, Plagiocephaly, Thin corpus callosum, Cerebral atrophy	ORPHA:544469
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Fetal Trimethadione Syndrome	Microcephaly, Brachycephaly, Intrauterine growth retardation	ORPHA:1913
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Microcephaly, Intraute...	OMIM:616897
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Micropenis, Cataract, Abnormality of the urinary system, Iris c...	OMIM:244300
Kleefstra Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Microcephaly, Short stature, Abn...	ORPHA:261652
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hydrocephalus, Histiocytoid cardiomyopathy, Short stature, Colpo...	OMIM:309801
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Mitochondrial Complex I Deficiency, Nuclear Type 19	Ventriculomegaly, Hypertrophic cardiomyopathy	OMIM:618241
Oculofaciocardiodental Syndrome	Microphthalmia, Retinal detachment, Microcornea, Ectopia lentis, Cataract, Iris coloboma	ORPHA:2712
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Malan Overgrowth Syndrome	Ventriculomegaly, Hypoplasia of the brainstem, Lateral ventricle dilatation	ORPHA:420179
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Pseudo-Torch Syndrome 2	Ventriculomegaly, Secundum atrial septal defect, Lateral ventricle dilatation	OMIM:617397
3C Syndrome	Postnatal growth retardation, Atrioventricular canal defect, Abnormal tricuspid valve morphology,...	ORPHA:7
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid...	OMIM:268315
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Brachycephaly, Plagiocephaly, Hy...	ORPHA:500055
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Retinal coloboma, Renal agenesis, R...	OMIM:607323
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Macular edema, Normochromic anemia, Glomerular sclerosis, Retinal cotton wool ...	ORPHA:247691
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Atrial septal defect, Ventricular septal defect	OMIM:618974
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Iniencephaly	Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation,...	ORPHA:63259
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro...	OMIM:222300
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:101070
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Ventricular septal defect, Colpocephaly	ORPHA:261250
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly, Generalized amyotrophy	OMIM:203740
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Abnormal brainstem morphology	ORPHA:163961
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Oligohydramnios, Scaphocephaly	ORPHA:1143
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Iris coloboma	ORPHA:77298
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori...	ORPHA:263479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Col...	OMIM:236670
2Q32Q33 Microdeletion Syndrome	Microcephaly, Brachycephaly, Short stature, Growth delay	ORPHA:251019
Hartsfield Syndrome	Microphthalmia, Encephalocele	ORPHA:2117
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Frontal bossing, Brachyturricephaly	OMIM:607597
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation	ORPHA:85290
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Corneal o...	OMIM:608940
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Cornelia De Lange Syndrome 5	Microcephaly, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:300882
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Ventriculomegaly, Atrial septal defect	OMIM:615502
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Brachycephaly, Hydrocephalus, Dandy-Walker malformation, Cerebral h...	OMIM:257300
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Short stature, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Xq28 (MECP2) duplication	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum	DECIPHER:45
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Frontal bossing, Agenesis ...	OMIM:612582
Cerebrooculonasal Syndrome	Hypoplasia of the corpus callosum, Postnatal growth retardation, Brachycephaly, Macrocephaly, Pro...	OMIM:605627
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor	ORPHA:309288
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Micropenis, Hydronephrosis	OMIM:619185
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal boss...	OMIM:123500
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Viral infection-induced rhabdomyolysis, Lower limb hypertonia, Hypopl...	ORPHA:2524
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
German Syndrome	Short stature, Dolichocephaly, Brachycephaly, Lymphedema	ORPHA:2077
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Al Kaissi Syndrome	Hypoplasia of the corpus callosum, Postnatal growth retardation, Brachycephaly, Decreased head ci...	OMIM:617694
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Retinopathy,...	OMIM:603903
Emanuel Syndrome	Congenital diaphragmatic hernia, Torticollis, Hydrocephalus, Dandy-Walker malformation, Truncus a...	OMIM:609029
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Galloway-Mowat Syndrome 4	Cerebral atrophy, Plagiocephaly, Polymicrogyria, Short stature, Cerebellar hypoplasia, Primary mi...	OMIM:617730
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Mitral stenosis, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Enlarged kidney, Cardiomegaly, Ascites	OMIM:261740
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Patent foramen ovale, Contracture of the proximal interphalangea...	ORPHA:457279
Achondrogenesis, Type Ii	Brachycephaly, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb short stature, Fronta...	OMIM:200610
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Microcephaly, Plagiocephaly, Macrocephaly, Short stature	OMIM:618089
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Short stature, Ventriculomegaly, Hypoplasia of the brainstem	OMIM:618273
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Macrocephaly, Rhizomelia	OMIM:618821
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Acromelic Frontonasal Dysplasia	Brachycephaly, Encephalocele, Meningocele, Hypoplasia of the olfactory bulb, Agenesis of corpus c...	ORPHA:1827
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery morphology, Ureteral hy...	ORPHA:79328
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Joubert Syndrome 30	Ventriculomegaly, Molar tooth sign on MRI, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:617622
Baraitser-Winter Syndrome 2	Coloboma, Microphthalmia	OMIM:614583
Congenital Disorder Of Glycosylation, Type Iig	Postnatal growth retardation, Rhizomelia, Camptodactyly, Short stature, Lateral ventricle dilatat...	OMIM:611209
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Short stature, Ventriculomegaly	OMIM:611555
Joubert Syndrome 31	Ventriculomegaly, Molar tooth sign on MRI	OMIM:617761
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Lower limb hypertonia, Intrauterine growth retardati...	ORPHA:2169
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Coloboma, Corneal opacity, Conjunctival hyperemia, Cata...	ORPHA:2399
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventriculomegaly, Atrial septal def...	OMIM:614576
Proteus Syndrome	Retinal hamartoma, Enlarged kidney, Buphthalmos, Long penis, Retinal nonattachment, Neoplasm of t...	ORPHA:744
Craniosynostosis 2	Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal...	OMIM:604757
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Intrauterine gr...	OMIM:617710
Cog5-Cdg	Atrophy/Degeneration affecting the brainstem, Short stature, Camptodactyly of finger, Lateral ven...	ORPHA:263487
2Q23.1 Microdeletion Syndrome	Microcephaly, Brachycephaly, Short stature, Growth delay	ORPHA:228402
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Developmental cataract, Abdominal adhesions, Lymphopenia, Cataract, Neutropenia	OMIM:616395
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Patent foramen ovale, Colpocephaly, Agenes...	OMIM:301043
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Turricephaly, Cerebellar vermis hypoplasia, Short stature, Agenesis of cerebellar ...	OMIM:601853
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Leukodystrophy, Hypomyelinating, 24	Ventriculomegaly, Severe short stature, Flexion contracture	OMIM:619851
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Chorioretinal coloboma, Iris coloboma	OMIM:243310
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Hypoplasia of the corpus callosum, Brachycephaly, Microcephaly, Short stature, Flat occiput, Intr...	OMIM:617452
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum	OMIM:300958
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Cooper-Jabs Syndrome	Short stature, Frontal bossing, Brachycephaly, Umbilical hernia	ORPHA:1488
Menkes Disease	Microcephaly, Brachycephaly, Intrauterine growth retardation, Short stature	OMIM:309400
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing, Rhizomelia, Severe short stature	OMIM:264180
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Macrocephaly, Cranial asymmetry	ORPHA:137634
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput, Microcephaly, Cerebral cortical atrophy, Short stature, Intrauterine...	ORPHA:505237
Meacham Syndrome	Enlarged kidney, Horseshoe kidney, Accessory spleen	OMIM:608978
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Joubert Syndrome 14	Optic atrophy, Microphthalmia, Coloboma, Renal cyst, Morning glory anomaly	OMIM:614424
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Orofaciodigital Syndrome Xvii	Short stature, Ventriculomegaly, Tetralogy of Fallot	OMIM:617926
Knobloch Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ...	ORPHA:1571
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb...	ORPHA:2969
Giant Axonal Neuropathy 1, Autosomal Recessive	Distal amyotrophy, Facial palsy, Lateral ventricle dilatation	OMIM:256850
Distal Deletion 10Q	Postnatal growth retardation, Spina bifida occulta, Facial diplegia, Scapular winging, Short stat...	ORPHA:96148
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Intr...	OMIM:618804
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ven...	ORPHA:284169
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:219730
Atelis Syndrome 2	Microphthalmia, Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental ...	OMIM:620185
Coffin-Siris Syndrome 6	Short stature, Periventricular leukomalacia, Frontal bossing, Plagiocephaly	OMIM:617808
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Fanconi Anemia, Complementation Group B	Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventriculomegaly, Ventricular septa...	OMIM:300514
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Renal insufficiency, Nephropathy, Cataract, Microscopic hematuria, Thickened glomerula...	OMIM:308940
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Limb hypertonia, Dilated third ventricle, Lower limb hypertonia, Lateral ventricle dilatation, Pa...	OMIM:617296
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran...	ORPHA:244
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Coloboma, Microphthalmia	OMIM:167730
Noonan Syndrome 14	Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Mitral valve pro...	OMIM:619745
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Ventriculomegaly, Atrial septal defect, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Cockayne Syndrome	Microphthalmia, Urinary incontinence, Retinal atrophy, Splenomegaly, Optic atrophy, Band keratopa...	ORPHA:191
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Plagiocephaly, Spina bifida occulta, Short stature	OMIM:619227
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growth retardation	OMIM:219150
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Abnormal cortical gyration, Encephalocele, Polymicrogyria, Pachygyria, Flat occipu...	ORPHA:2211
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Frontal bossing, Short stature, I...	ORPHA:371364
Spondyloenchondrodysplasia	Short stature, Ventriculomegaly, Abnormal lateral ventricle morphology, Disproportionate short-tr...	ORPHA:1855
Emanuel Syndrome	Congenital diaphragmatic hernia, Multiple joint contractures, Hydrocephalus, Dandy-Walker malform...	ORPHA:96170
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Oligohydramnios, Polyhydramnios, Brachycephaly	OMIM:263210
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Limb hypertonia, Hydranencephaly, Hydrocephalus, Patent foramen ovale, Dilated third ventricle, S...	OMIM:620371
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis, Umbilical hernia, Ventriculomegaly, ...	OMIM:618205
Grant Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:2097
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
4Q21 Microdeletion Syndrome	Intrauterine growth retardation, Ventriculomegaly, Agenesis of corpus callosum, Growth delay	ORPHA:238750
Lissencephaly Due To Tuba1A Mutation	Dysplastic corpus callosum, Dilated fourth ventricle, Agenesis of corpus callosum, Ventriculomega...	ORPHA:171680
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Amish Lethal Microcephaly	Ventriculomegaly, Limb hypertonia, Agenesis of corpus callosum, Spina bifida	ORPHA:99742
Khan-Khan-Katsanis Syndrome	Patent foramen ovale, Short stature, Joint contracture, Colpocephaly, Intrauterine growth retarda...	OMIM:618460
Aicardi-Goutieres Syndrome 9	Pericardial effusion, Pericarditis, Lower limb hypertonia, Lateral ventricle dilatation, Left ven...	OMIM:619487
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Microcephaly, Lobar holoprosencephaly, Short stature, Skull asymmetry	OMIM:614701
Laurence-Moon Syndrome	Short stature, Brachycephaly	ORPHA:2377
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Renal hypoplasia, Microphthalmia, Hydronephrosis, Unilateral renal agenesis	OMIM:618494
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Agenesis of corpus callosum, Lateral ventric...	OMIM:300952
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Ventriculomegaly, Hypoplasia of the brainstem, Agenesis of corpu...	ORPHA:255138
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Anencephaly, Encephalocele, Dandy-Walker malformation, Microcephaly, Short stature...	OMIM:619148
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro...	OMIM:300578
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy	OMIM:230800
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral morphology	ORPHA:70472
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Plagiocephaly, Brachycephaly, Umbilical hernia	ORPHA:369891
Desanto-Shinawi Syndrome	Hypoplasia of the corpus callosum, Brachycephaly	OMIM:616708
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem	OMIM:606854
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Ventriculomegaly, Skeletal muscle atrophy, Limb hypertonia	OMIM:619527
Duplication Of The Pituitary Gland	Polyhydramnios, Encephalocele, Brachyturricephaly, Microcephaly, Short stature, Agenesis of corpu...	ORPHA:314621
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Cataract, Pigmentary retinopathy	OMIM:610651
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Fg Syndrome Type 1	Plagiocephaly, Macrocephaly, Prominent occiput, Hydrocephalus, Optic nerve hypoplasia, Short stat...	ORPHA:93932
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Microcephaly, Plagiocephaly, Umbilical hernia	OMIM:616579
Traboulsi Syndrome	Microphthalmia, Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow...	OMIM:601552
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal rena...	OMIM:227650
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Polyhydramnios, Rhizomelic arm shortening	ORPHA:96190
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle dilatation, Ventricular ...	OMIM:619575
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Chorioret...	OMIM:115470
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Intrauterine growth retardation, Ventriculomegaly, Partial agenesis of the corpus callosum	OMIM:619074
Chromosome 2P16.1-P15 Deletion Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Postnatal growth retardation, Brachycephaly,...	OMIM:612513
Inverted Duplicated Chromosome 15 Syndrome	Microcephaly, Brachycephaly, Growth delay	ORPHA:3306
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract	OMIM:618727
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Congenital contrac...	OMIM:613150
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Macrocephaly, Turricephaly, Frontal bossing, Agenesis of corpus callosum, Craniosy...	OMIM:613174
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia	OMIM:214150
Carpenter Syndrome 1	Cerebral atrophy, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Short stature...	OMIM:201000
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Renal insufficiency, Intrahepatic biliary atresia, Nephropathy, Portal h...	ORPHA:1454
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Optic nerve hypoplasia, Primary microcephaly, Simplified gyral pattern	OMIM:618828
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Retinal degeneration	OMIM:272200
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Ventriculomegaly, Atrial septal defect, Facial hypotonia	OMIM:611087
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Occipital m...	OMIM:616546
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:600901
Developmental And Epileptic Encephalopathy 110	Microcephaly, Posterior plagiocephaly, Hypoplasia of the corpus callosum	OMIM:620149
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Microcephaly 30, Primary, Autosomal Recessive	Intrauterine growth retardation, Ventriculomegaly, Secundum atrial septal defect	OMIM:620183
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Retinal dystrophy, Renal cyst, Chorioretinal coloboma, Optic di...	OMIM:608091
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemi...	OMIM:610832
Wieacker-Wolff Syndrome, Female-Restricted	Microcephaly, Polyhydramnios, Brachycephaly, Short stature	OMIM:301041
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Sclerocornea, Cataract, Micropenis, Pigmentary retinopathy	OMIM:614230
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Fanconi Anemia, Complementation Group F	Microphthalmia, Anemia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Bone marrow hypocellu...	OMIM:603467
Steinfeld Syndrome	Microphthalmia, Unilateral renal dysplasia, Retinal coloboma, Absent gallbladder, Iris coloboma	OMIM:184705
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased CSF lactate, Hypertrophic cardiomyopathy, Increased variability in muscle fiber diamete...	OMIM:604377
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Ventriculomegaly, Ventricular septal defect, Lateral ventricle d...	OMIM:619229
Neurocutaneous Melanocytosis	Ventriculomegaly, Dandy-Walker malformation, Meningocele	ORPHA:2481
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Coloboma, Optic nerve aplasia,...	OMIM:206900
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Cerebral calcification, Dandy-Walker malformation, Porencephali...	ORPHA:2612
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Aniridia 3	Cataract, Aniridia	OMIM:617142
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Torticollis, Increased CSF lactate, Ventriculomegaly, Myelopathy	OMIM:617186
Larsen-Like Syndrome	Short stature, Frontal bossing, Macrocephaly, Brachycephaly	OMIM:608545
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Nephrocalcinosis, Catar...	OMIM:240300
Mosaic Trisomy 9	Microphthalmia, Abnormal liver lobulation, Hypoplasia of penis, Corneal opacity, Asplenia, Hydron...	ORPHA:99776
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia, Retinal calcification, Papilledema, Developmental cataract	OMIM:127000
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619244
Incontinentia Pigmenti	Optic atrophy, Microphthalmia, Retinal detachment, Retinal vascular proliferation, Leukocytosis, ...	OMIM:308300
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:615879
Gabriele-De Vries Syndrome	Facial hypotonia, Patent foramen ovale, Distal arthrogryposis, Lateral ventricle dilatation, Intr...	OMIM:617557
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Coloboma, Microphthalmia	OMIM:611961
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Hallermann-Streiff Syndrome	Brachycephaly, Proportionate short stature, Microcephaly, Frontal bossing, Spina bifida, Parietal...	OMIM:234100
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Frontal bossing, Macrocephaly, Plagiocephaly	OMIM:618430
Intellectual Disability-Strabismus Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Polyhydramnios, Microcephaly, Short stature, Ag...	ORPHA:363528
Joubert Syndrome 1	Plagiocephaly, Macrocephaly, Cerebellar vermis hypoplasia, Microcephaly, Occipital myelomeningoce...	OMIM:213300
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephro...	OMIM:251300
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Disproportionate short stature, Muscular ventricular septal defect, Knee flexion cont...	OMIM:210710
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypo...	OMIM:617666
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid	OMIM:613001
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Astigmatism	OMIM:615873
Lessel-Kreienkamp Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	OMIM:619149
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Solitary Median Maxillary Central Incisor	Cyclopia, Microphthalmia, Anophthalmia, Coloboma	OMIM:147250
Multiple Benign Circumferential Skin Creases On Limbs	Retinopathy, Microcornea, Microphthalmia, Hypospadias	ORPHA:2505
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Lethal short-limbed short stature	ORPHA:1860
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Lujan-Fryns Syndrome	Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly	ORPHA:776
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Thin corpus callosum, Macrocephaly, Cerebellar vermis hypoplasia, Microcephaly, Ce...	OMIM:619720
Trisomy 1Q	Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly of finger, Agenesis of corpus callo...	ORPHA:261344
Thanatophoric Dysplasia, Type Ii	Ventriculomegaly, Lethal short-limbed short stature, Neonatal death	OMIM:187601
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Cerebral atrophy, Frontal bossing, Brachycephaly	OMIM:615539
Seckel Syndrome 9	Congenital diaphragmatic hernia, Short stature, Intrauterine growth retardation, Ventriculomegaly...	OMIM:616777
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Peroxisome Biogenesis Disorder 5A (Zellweger)	Camptodactyly, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retardation, Atrial...	OMIM:614866
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
8Q12 Microduplication Syndrome	Brachycephaly	ORPHA:228399
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Lateral ventricle dilatation	OMIM:619847
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Increased retinal ...	OMIM:606519
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal bossing	OMIM:207410
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia	OMIM:302350
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia, Retinal dystrophy	OMIM:616538
16P13.11 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Holoprosencephaly, Agenesis of corpus callosum, Ventricul...	ORPHA:261236
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, Microcephaly, Intrauteri...	OMIM:618644
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom...	OMIM:617913
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Microcornea, Hydronephrosis, Cataract	OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Cataract	OMIM:253800
19P13.12 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Microcephaly, Intrauterine growth retardation, ...	ORPHA:254346
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypop...	OMIM:610199
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Ventricular septal defect, Agenesis of corpus callosum	ORPHA:452
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 64	Microcephaly, Cerebellar hypoplasia, Plagiocephaly, Growth delay	OMIM:619188
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Beck-Fahrner Syndrome	Facial hypotonia, Extra-axial cerebrospinal fluid accumulation, Cardiomegaly, Ventriculomegaly, V...	OMIM:618798
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:227645
Shashi-Pena Syndrome	Limb hypertonia, Mild fetal ventriculomegaly, Intrauterine growth retardation, Ventriculomegaly, ...	OMIM:617190
Acrofrontofacionasal Dysostosis 2	Microcephaly, Brachycephaly, Short stature	OMIM:239710
Proboscis Lateralis	Cyclopia, Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Microc...	ORPHA:141099
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
20Q11.2 Microduplication Syndrome	Brachycephaly, Palpebral edema, Severe intrauterine growth retardation, Microcephaly, Trigonoceph...	ORPHA:363659
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Short stature, Holoprosencephaly, Ventriculomegaly, Ventricular ...	OMIM:612530
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract	ORPHA:284160
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Plagiocephaly, Progressive microcephaly, Optic nerve hypoplasia, Mi...	OMIM:300749
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Patent foramen ovale, Extra-axial cerebrospinal fluid accumulation, S...	OMIM:619179
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Alagille Syndrome	Delayed puberty, Brachycephaly, Spina bifida occulta, Frontal bossing, Intrauterine growth retard...	ORPHA:52
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Ventriculomegaly, Meningocele	ORPHA:2031
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Hydronephrosis, Iris coloboma	ORPHA:2839
Trisomy 20P	Brachycephaly, Plagiocephaly, Spina bifida, Frontal bossing, Dolichocephaly, Umbilical hernia	ORPHA:261318
Alagille Syndrome 1	Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, Renal tubular acidosis,...	OMIM:118450
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Combined Oxidative Phosphorylation Deficiency 39	Increased CSF lactate, Congenital contracture, Joint contracture, Flexion contracture, Intrauteri...	OMIM:618397
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Hydronephrosis, Microphthalmia	ORPHA:35173
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Ventriculomegaly, Skeletal muscle atrophy	ORPHA:1933
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Renal hypoplasia, H...	OMIM:601186
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis...	ORPHA:2092
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:616789
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Intrauterine growth retardation, Ventriculomegaly, Camptodactyly of finger, Growth delay	ORPHA:2083
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia	ORPHA:3191
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital...	ORPHA:974
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Iris hypopigm...	OMIM:214500
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Growth dela...	ORPHA:96147
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytope...	OMIM:227646
Trisomy 18	Cyclopia, Microphthalmia, Microcornea, Abnormality of the upper urinary tract, Abnormality of ret...	ORPHA:3380
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Smith-Magenis Syndrome	Delayed puberty, Brachycephaly, Corticospinal tract hypoplasia, Microcephaly, Short stature, Fron...	ORPHA:819
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Microcephaly, Anterior plagiocephaly, Growth delay, Left unicoronal synostosis	OMIM:614749
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Facial diplegia, Hypertrophic cardiomyopathy, Growth delay, Secundum atrial septal defect, Ventri...	OMIM:619121
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly, Dandy-Walker malformation, Short stature, Agenesis of corpus callos...	OMIM:619435
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, R...	ORPHA:137675
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Apert Syndrome	Brachycephaly, Megalencephaly, Lambdoidal craniosynostosis, Craniosynostosis, Hydrocephalus, Acro...	OMIM:101200
Fanconi Anemia, Complementation Group W	Growth delay, Ventriculomegaly, Intrauterine growth retardation	OMIM:617784
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Perimembranous ventricular septal defect, Muscular ventricular septal...	ORPHA:363444
49,Xxxxy Syndrome	Hypoplasia of the corpus callosum, Holoprosencephaly, Short stature, Brachycephaly	ORPHA:96264
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Contracture of the proximal interphalangeal joint of the 3rd finger, Age...	ORPHA:464738
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Anophthalmia, Renal agenesis, Abnormality...	ORPHA:2538
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio...	OMIM:618280
Gorlin-Chaudhry-Moss Syndrome	Short stature, Coronal craniosynostosis, Brachycephaly, Umbilical hernia	ORPHA:2095
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Elbow flexion contracture, Camptodactyly of finger, Agenesis of ...	ORPHA:1692
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia	ORPHA:2189
Dihydropyrimidinase Deficiency	Microcephaly, Plagiocephaly, Abnormal cerebral white matter morphology, Growth delay	OMIM:222748
Weaver Syndrome	Diastasis recti, Camptodactyly, Lateral ventricle dilatation, Umbilical hernia, Ventriculomegaly,...	OMIM:277590
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Microcornea, Thrombocytopenia, Chor...	OMIM:147791
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Accessory spleen, Portal hypertension, Renal hypoplasia, Severe B lymphoc...	OMIM:620005
Noonan Syndrome 13	Microcephaly, Plagiocephaly, Lymphedema, Cavum septum pellucidum	OMIM:619087
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Optic nerve hypoplasia, Coloboma, Pelvic kidney, Retinal coloboma, A...	ORPHA:508498
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Desmosterolosis	Hydrocephalus, Growth delay, Severe short stature, Agenesis of corpus callosum, Intrauterine grow...	ORPHA:35107
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Secondary microcephaly, Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Growth de...	OMIM:617193
Cerebrofaciothoracic Dysplasia	Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Polyhydramnios, Cerebellar vermis...	ORPHA:1394
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Macrocephaly, Microcephaly, Growth delay, Hyperintensity ...	OMIM:617798
Hyperphosphatasia-Intellectual Disability Syndrome	Increased head circumference, Brachycephaly, Plagiocephaly, Decreased head circumference, Abnorma...	ORPHA:247262
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Microphthalmia, Retinal detachment, Retinal vascular prolifera...	ORPHA:464
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Microcephaly, Macrocephaly, Brachycephaly, Growth delay	OMIM:300260
Distal Deletion 3P	Brachycephaly, Microcephaly, Short stature, Umbilical hernia, Intrauterine growth retardation	ORPHA:1620
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Raine Syndrome	Brachycephaly, Plagiocephaly, Hydrocephalus, Cerebral calcification, Brachyturricephaly, Microcep...	OMIM:259775
Pseudo-Torch Syndrome 1	Ventriculomegaly, Patent foramen ovale, Increased CSF protein concentration, Umbilical hernia	OMIM:251290
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypop...	OMIM:620073
Cockayne Syndrome B	Optic atrophy, Microphthalmia, Hepatomegaly, Renal insufficiency, Microcornea, Hypoplasia of the ...	OMIM:133540
Adenylosuccinase Deficiency	Microcephaly, Cerebral atrophy, Brachycephaly, Growth delay	OMIM:103050
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Disproportionate short-limb short stature, Hydrocephalus, Calvarial hyperostosis, ...	OMIM:101800
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv...	OMIM:278730
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Microcephaly, Short stature, Growth delay, Craniosynostosis	ORPHA:457193
Lig4 Syndrome	Microcephaly, Brachycephaly, Biparietal narrowing, Growth delay	ORPHA:99812
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Branchial anomaly, Pleural effusion, Increased ...	ORPHA:453499
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Congenital diaphragmatic hernia	ORPHA:1647
Bainbridge-Ropers Syndrome	Intrauterine growth retardation, Contracture of the proximal interphalangeal joint of the 4th fin...	OMIM:615485
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Hypoplasia of the pons, Skeletal muscle atrophy, Ventriculomegaly, Hypoplasia of t...	OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Coloboma, Retinal atrophy, Megaloc...	OMIM:253280
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly, Hypoplasia of the corpus callosum, Macrocephaly, Cerebellar vermis hypoplasia, Sho...	ORPHA:364028
Peho Syndrome	Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Flexion contracture, Ventriculomegal...	ORPHA:2836
Marden-Walker Syndrome	Renal hypoplasia, Microphthalmia, Micropenis, Hypospadias	OMIM:248700
Neurocardiofaciodigital Syndrome	Double inlet left ventricle, Dilated fourth ventricle, Short stature, Tetralogy of Fallot, Latera...	OMIM:619869
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Hypoplasia of the corpus callosum, Secondary microcephaly, Plagiocephaly, Polyhydramnios, Cerebra...	ORPHA:496641
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Microcephaly, Macrocephaly, Brachycephaly, Short stature	ORPHA:562528
Congenital Disorder Of Glycosylation, Type Iit	Microcephaly, Brachycephaly, Abnormal cerebral white matter morphology, Short stature	OMIM:618885
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Flexion contracture, Lateral ventricle dilatation	ORPHA:2148
Opitz-Kaveggia Syndrome	Plagiocephaly, Postnatal macrocephaly, Hydrocephalus, Relative macrocephaly, Short stature, Front...	OMIM:305450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Ventriculomegaly, Spina bifida	OMIM:616038
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Frontal bossing, Thin corpus callosum, Plagiocephaly	OMIM:619293
Apert Syndrome	Hydrocephalus, Cloverleaf skull, Acrobrachycephaly, Brachyturricephaly, Frontal bossing, Agenesis...	ORPHA:87
Oculocerebrofacial Syndrome, Kaufman Type	Microcephaly, Flat occiput, Brachycephaly, Growth delay	ORPHA:2707
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Prader-Willi Syndrome Due To Translocation	Patent foramen ovale, Short stature, Abnormal heart morphology, Lateral ventricle dilatation, Int...	ORPHA:177907
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypoplasia of the corpus callosum, Plagiocephaly, Cavum septum pellucidum, Cerebellar vermis hypo...	OMIM:619383
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Disproportionate short-limb short stature, Flexion contracture, Lateral ...	OMIM:619479
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Atrial septal defect, Proportionate short stature, Umbilical hernia	ORPHA:404443
19P13.13 Microdeletion Syndrome	Brachycephaly, Macrocephaly, Optic nerve hypoplasia, Hypoplasia of the frontal lobes, Corpus call...	ORPHA:357001
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation, Growth delay	OMIM:612301
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, Hydronephrosis, Cataract, Iris coloboma	ORPHA:250989
Cohen Syndrome	Optic atrophy, Microphthalmia, Neutropenia, Abnormality of retinal pigmentation, Chorioretinal dy...	ORPHA:193
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Brachycephaly, Frontal bossing, Intrauterine growth retardation, Th...	ORPHA:439822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Cerebral cortical atrophy, Plagiocephaly, Hydrocephalus	OMIM:239300
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
Moebius Syndrome	Microphthalmia, Micropenis	OMIM:157900
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Desmosterolosis	Rhizomelia, Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly, Arthrogrypo...	OMIM:602398
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia, Horseshoe kidney, Hypospadias	ORPHA:65286
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Toriello-Carey Syndrome	Postnatal growth retardation, Dandy-Walker malformation, Cardiomyopathy, Pulmonic stenosis, Short...	ORPHA:3338
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Cleidocranial Dysplasia	Brachycephaly, Macrocephaly, Spina bifida occulta, Short stature, Frontal bossing	ORPHA:1452
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Cataract, Iris coloboma	ORPHA:2250
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart m...	ORPHA:261197
Intellectual Developmental Disorder, Autosomal Dominant 1	Secondary microcephaly, Postnatal growth retardation, Brachycephaly, Cerebellar vermis hypoplasia...	OMIM:156200
Autosomal Recessive Spastic Paraplegia Type 11	Generalized limb muscle atrophy, Distal amyotrophy, Lateral ventricle dilatation, Abnormal substa...	ORPHA:2822
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Aicardi Syndrome	Postnatal growth retardation, Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventr...	OMIM:304050
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Renal cyst, Retinopathy, Hyperechogenic kidneys, Sple...	OMIM:615636
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Kury-Isidor Syndrome	Growth delay, Frontal bossing, Brachycephaly	OMIM:619762
Smith-Magenis Syndrome	Short stature, Brachycephaly	OMIM:182290
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Agenesis ...	OMIM:617669
Phace Syndrome	Retinal vascular malformation, Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Scle...	ORPHA:42775
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:268249
Chromosome 2Q37 Deletion Syndrome	Short stature, Brachycephaly	OMIM:600430
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 58	Microcephaly, Plagiocephaly, Short stature	OMIM:618106
Pseudotrisomy 13 Syndrome	Cyclopia, Microphthalmia, Renal agenesis, Renal hypoplasia, Micropenis	OMIM:264480
Martsolf Syndrome 1	Cataract, Microphthalmia, Developmental cataract, Micropenis	OMIM:212720
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Short stature, Growth dela...	OMIM:270400
Holoprosencephaly	Optic atrophy, Cyclopia, Microphthalmia, Hypoplasia of penis, Anophthalmia, Retinopathy, Choriore...	ORPHA:2162
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Cardiomyopathy, Hypoplasia of the pons, Growth delay, Ventriculomegaly	ORPHA:88618
Aymé-Gripp Syndrome	Hypoplasia of the corpus callosum, Postnatal growth retardation, Brachycephaly, Plagiocephaly, Hy...	ORPHA:1272
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Polyhydramnios, Optic nerve hypoplasia, Microcephaly, Growth delay, Intrauterine g...	ORPHA:261349
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Plagiocephaly, Macrocephaly, Hypoplasia of the olfactory bulb, Intr...	ORPHA:251061
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Iris atrophy, Ab...	OMIM:259770
De Barsy Syndrome	Postnatal growth retardation, Brachycephaly, Cerebellar vermis hypoplasia, Progressive microcepha...	ORPHA:2962
Fanconi Anemia, Complementation Group S	Microphthalmia, Anemia	OMIM:617883
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Increased CSF lactate, Hypoplasia of the pons, Agenesis of corpus callosum, Ventriculomegaly, Par...	ORPHA:500144
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, Ventriculomegaly, Left ventricular hypertrophy	OMIM:619355
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,...	OMIM:175780
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Agenesis of corpus callosum, Cardi...	ORPHA:228308
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Aprosencephaly	OMIM:601374
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Developmental And Epileptic Encephalopathy 84	Microcephaly, Plagiocephaly	OMIM:618792
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Camptodactyly, Pulmonic stenosis, Short stature, Abnormal heart morph...	ORPHA:314679
Acrofrontofacionasal Dysostosis	Cerebral cortical atrophy, Brachycephaly, Short stature	ORPHA:1784
ERI1-related disease	Brachycephaly, Trigonocephaly, Frontal bossing, Short stature, Intrauterine growth retardation	OMIM:608739
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Elbow flexion contracture, Thenar muscle atrophy, Contracture of th...	OMIM:612394
White-Sutton Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Thin corpus callosum, Optic n...	OMIM:616364
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Abnormal vitreous humor morphology, Hypospadias, Retinal dysplasia, R...	ORPHA:2556
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly, Mesomelic short stature	ORPHA:2633
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cerebral atrophy, Flat occiput, Brachycephaly, Hypoplasia of the corpus callosum	OMIM:618797
Frontorhiny	Cataract, Microphthalmia, Iris coloboma	ORPHA:391474
Gillespie Syndrome	Ventriculomegaly, Truncus arteriosus	OMIM:206700
Angelman Syndrome	Secondary microcephaly, Flat occiput, Cerebral cortical atrophy, Brachycephaly	OMIM:105830
Gorlin Syndrome	Brachycephaly, Macrocephaly, Hydrocephalus, Cerebral calcification, Calcification of falx cerebri...	ORPHA:377
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebral atrophy, Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Growth delay, A...	OMIM:615471
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Growth delay, Ventriculomegaly, Multiple joint contractures	ORPHA:466934
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysplastic corpus callosum	OMIM:617281
Cog8-Cdg	Ventriculomegaly, Skeletal muscle atrophy, Atrophy/Degeneration affecting the brainstem	ORPHA:95428
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly, Macroglossia	OMIM:616260
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Macrocephaly, Subcortical cerebral atrophy, Communicating hy...	ORPHA:309282
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Short stature, Mitral valve prolapse, Hypoplasia of the midbrain, Ventric...	OMIM:616202
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Coloboma, Vesicoureteral reflux, Re...	OMIM:616975
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Corneal opacity, Hydronephrosis, Multicystic ...	ORPHA:2059
Cadds	Intrauterine growth retardation, Ventriculomegaly	ORPHA:369942
Trisomy 9P	Microcephaly, Brachycephaly	ORPHA:236
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Anterior chamber cells, Retinal hemorrhage, Depigmented fu...	ORPHA:79098
Cystinosis, Nephropathic	Recurrent corneal erosions, Generalized aminoaciduria, Retinopathy, Corneal crystals, Splenomegal...	OMIM:219800
Gaucher Disease, Perinatal Lethal	Neonatal death, Cardiomegaly, Ventriculomegaly, Arthrogryposis multiplex congenita, Intrauterine ...	OMIM:608013
Developmental And Epileptic Encephalopathy 5	Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Reduced cerebral w...	OMIM:613477
Carey-Fineman-Ziter Syndrome 1	Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Growth delay, Skeletal muscle...	OMIM:254940
Schimmelpenning-Feuerstein-Mims Syndrome	Short stature, Cranial asymmetry, Hemimegalencephaly, Growth delay	OMIM:163200
Neu-Laxova Syndrome	Muscular dystrophy, Dandy-Walker malformation, Aplasia/Hypoplasia involving the skeletal musculat...	ORPHA:2671
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia, Hydronephrosis	OMIM:302960
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Asparagine Synthetase Deficiency	Limb hypertonia, Dilated third ventricle, Dilated fourth ventricle, Hypoplasia of the pons, Diaph...	OMIM:615574
Neu-Laxova Syndrome 1	Stillbirth, Short umbilical cord, Transposition of the great arteries, Small placenta, Hydranence...	OMIM:256520
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Dandy-Walker malformation, Short stature, Growth delay, Hol...	ORPHA:1052
9P13 Microdeletion Syndrome	Short stature, Brachycephaly, Umbilical hernia	ORPHA:324313
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Brachycephaly, Macrocephaly, Lambdoidal craniosynostosis, Cerebellar hypoplasia	OMIM:615398
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Pearson Syndrome	Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi...	ORPHA:699
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Megalocornea, Hypoplasia of the iris, Acute lymphob...	OMIM:223370
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal brainstem morphology, Ventriculomegaly, Hypoglycosylation of alpha-dystroglycan, Abnorma...	ORPHA:370997
Maternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Ventriculomegaly	ORPHA:96181
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Spina bifida occulta, Growth delay, Short stature, Intrauterine growth retardation	ORPHA:500
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Shprintzen-Goldberg Syndrome	Abnormal aortic valve morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Communica...	ORPHA:2462
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Craniosynostosis, Polyhydramnios, Brachycephaly	ORPHA:1790
Tetraamelia Syndrome 1	Microphthalmia, Asplenia, Renal agenesis, Urethral atresia, Cataract	OMIM:273395
Dysostosis, Stanescu Type	Microcephaly, Cerebral calcification, Brachycephaly, Short stature	ORPHA:1798
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Limb hypertonia, Increased CSF lactate, Cardiomegaly, Ventric...	OMIM:620306
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Polyhydramnios, Brachycephaly	OMIM:619859
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyalo...	OMIM:300166
Sifrim-Hitz-Weiss Syndrome	Short stature, Tetralogy of Fallot, Ventriculomegaly, Atrial septal defect, Ventricular septal de...	OMIM:617159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Muscular dystrophy, Anencephaly, Hydrocephalus, Dandy-Walker malformatio...	OMIM:615287
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Limb hypertonia, Hydrocephalus, Facial palsy, Short stature, Growth delay, Ventriculo...	OMIM:259720
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t...	ORPHA:637
Short Stature, Microcephaly, And Endocrine Dysfunction	Disproportionate short-limb short stature, Short stature, Intrauterine growth retardation, Ventri...	OMIM:616541
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Chorioretinal dysplasia,...	ORPHA:534
Cerebellar-Facial-Dental Syndrome	Limb hypertonia, Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Se...	ORPHA:444072
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Brachycephaly, Macrocephaly, Microcephaly, Short stature, Cerebella...	OMIM:212066
Congenital Enterovirus Infection	Myocarditis, CSF lymphocytic pleiocytosis, Cardiomyopathy, Pericardial effusion, Ventriculomegaly	ORPHA:292
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ...	OMIM:603116
Roifman-Chitayat Syndrome	Ventriculomegaly, Umbilical hernia	OMIM:613328
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
22Q11.2 Deletion Syndrome	Optic atrophy, Corneal neovascularization, Microphthalmia, Hypospadias, Cholelithiasis, Abnormali...	ORPHA:567
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Postnatal growth retardation, Abnormal lateral ventricle morphology, Patent foramen ovale, Pulmon...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Postnatal growth retardation, Abnormal lateral ventricle morphology, Patent foramen ovale, Pulmon...	ORPHA:353277
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Isolated Sedoheptulokinase Deficiency	Severe postnatal growth retardation, Diastasis recti, Short stature, Flexion contracture, Ventric...	ORPHA:440713
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Short stature, Neonatal death, Ventriculomegaly, Atrial septal defect, V...	OMIM:620024
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney, Absent gallb...	ORPHA:3186
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Thin corpus callosum, Spina bifida, Frontal bossing, Dolichocephaly, Partial agene...	OMIM:619480
Marbach-Schaaf Neurodevelopmental Syndrome	Microcephaly, Plagiocephaly	OMIM:619680
Meckel Syndrome, Type 1	Microphthalmia, Accessory spleen, Polycystic kidney dysplasia, Asplenia, Bile duct proliferation,...	OMIM:249000
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Lower limb hypertonia, Patent foramen ovale, Colpocephaly	ORPHA:477993
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Combined Oxidative Phosphorylation Deficiency 3	Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyolysis, Intrauterine growth...	OMIM:610505
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Short stature, Colpocephaly	OMIM:620083
Sanjad-Sakati Syndrome	Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Ventriculome...	ORPHA:2323
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Rhizomelia, Hydrocephalus, Short stature, Frontal bossing, Craniosynostosis	OMIM:245600
Antley-Bixler Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	ORPHA:83
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Secondary microcephaly, Brachycephaly, Plagiocephaly, Short stature, Frontal bossing, Primary mic...	OMIM:610759
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:601675
Adnp Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Focal white ma...	ORPHA:404448
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Bone marrow hypocellularity, Renal hypoplasia,...	OMIM:614083
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Holoprosencephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618820
Craniofrontonasal Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Short stature, Frontal bossing, Coronal cranios...	OMIM:304110
Curry-Jones Syndrome	Ventriculomegaly, Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum	OMIM:601707
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria	ORPHA:2728
Neuroocular Syndrome	Microphthalmia, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia o...	OMIM:619539
Momo Syndrome	Short stature, Frontal bossing, Macrocephaly, Brachycephaly	ORPHA:2563
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Ascites, Microcephaly, Cerebral cortical atrophy, Short stature, Ne...	OMIM:301072
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Acromelic Frontonasal Dysostosis	Hypoplasia of the corpus callosum, Brachycephaly, Encephalocele, Cavum septum pellucidum, Optic n...	OMIM:603671
Baller-Gerold Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Turricephaly, Spina bifida occulta, Hydrocephalus, Po...	OMIM:218600
Momo Syndrome	Brachycephaly, Frontal bossing, Macrocephaly	OMIM:157980
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Secondary microcephaly, Delayed puberty, Brachycephaly, Cerebellar hemisphere hypoplasia, Mild po...	ORPHA:456312
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Coloboma, Cataract, Micropenis	OMIM:603457
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Abnormality of retinal pigmentation, Chorioret...	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Hydrocephalus, Optic nerve hypoplasia, Olivopon...	ORPHA:457284
Marshall Syndrome	Brachycephaly, Cerebral calcification, Short stature, Frontal bossing, Thickened calvaria	ORPHA:560
2Q31.1 Microdeletion Syndrome	Coloboma, Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:251014
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Dandy-Walker malformation, Brachycephaly, Hypoplasia of the corpus callosum	OMIM:156610
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Polyhydramnios, Dolichocephaly, Severe short stature	ORPHA:2215
7Q11.23 Microduplication Syndrome	Brachycephaly, Macrocephaly, Craniosynostosis, Hydrocephalus, Short stature, Growth delay, Dolich...	ORPHA:96121
Chromosome 14Q11-Q22 Deletion Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Thin corpus callosum, Proportionate short statu...	OMIM:613457
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Posterior plagiocephaly, Macrocephaly, Polyhydramnios, Cerebellar vermis hypoplasi...	OMIM:619841
Monosomy 9Q22.3	Rhabdomyosarcoma, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Ventriculomegaly	ORPHA:77301
Bohring-Opitz Syndrome	Facial hypotonia, Dandy-Walker malformation, Bilateral wrist flexion contracture, Congenital cont...	ORPHA:97297
Fanconi Anemia	Microphthalmia, Astigmatism, Anemia, Hydroureter, Hypospadias, Abnormal preputium morphology, Ren...	ORPHA:84
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Iris coloboma	OMIM:618874
Lig4 Syndrome	Microcephaly, Brachycephaly	OMIM:606593
Pallister-Hall Syndrome	Microphthalmia, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypop...	OMIM:146510
Trichothiodystrophy	Bilateral microphthalmos, Astigmatism, Anemia, Increased mean corpuscular hemoglobin concentratio...	ORPHA:33364
Baller-Gerold Syndrome	Brachycephaly, Brachyturricephaly, Short stature, Frontal bossing, Growth delay, Intrauterine gro...	ORPHA:1225
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Abnormal pons morphology, Hip contracture, Flexion contracture, Latera...	OMIM:300868
Hoyeraal-Hreidarsson Syndrome	Intrauterine growth retardation, Ventriculomegaly, Short stature	ORPHA:3322
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly, Severe intrauterine growth retardation, Microcephaly, Cerebral cort...	ORPHA:1449
White-Sutton Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Subcortical cerebral atrophy, Microcephaly, Cer...	ORPHA:468678
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Ec...	OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation	OMIM:263520
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis	OMIM:241410
Alg12-Cdg	Hypoplasia of the corpus callosum, Posterior plagiocephaly, Polyhydramnios, Cavum septum pellucid...	ORPHA:79324
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Meckel Syndrome 14	Polycystic kidney dysplasia, Hepatic fibrosis, Microphthalmia	OMIM:619879
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba...	ORPHA:47159
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Hypoplasia of the pons, Lobar holoprosencephaly, Camptodactyly of fing...	ORPHA:468631
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Familial Multiple Lipomatosis	Ventriculomegaly, Abnormal tricuspid valve morphology	ORPHA:199276
Contractural Arachnodactyly, Congenital	Brachycephaly, Frontal bossing, Dolichocephaly, Scaphocephaly	OMIM:121050
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Microphthalmia, Iris atrophy	OMIM:201180
Adams-Oliver Syndrome 1	Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic val...	OMIM:100300
Fontaine Progeroid Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Turricephaly, Craniosynostosis, Cerebellar verm...	OMIM:612289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Plagiocephaly, Hydrocephalus, Frontal bossing, Craniosynostosis, Ol...	ORPHA:536467
Anauxetic Dysplasia 3	Plagiocephaly, Severe short stature	OMIM:618853
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
Alobar Holoprosencephaly	Macrocephaly, Neural tube defect, Proboscis, Hydrocephalus, Microcephaly, Short stature, Growth d...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Macrocephaly, Neural tube defect, Proboscis, Hydrocephalus, Microcephaly, Short stature, Growth d...	ORPHA:93926
Lobar Holoprosencephaly	Macrocephaly, Neural tube defect, Proboscis, Hydrocephalus, Microcephaly, Short stature, Growth d...	ORPHA:93924
Semilobar Holoprosencephaly	Macrocephaly, Neural tube defect, Proboscis, Hydrocephalus, Microcephaly, Short stature, Growth d...	ORPHA:220386
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Lower limb muscle weakness	ORPHA:395
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Umbilical hernia, Bicuspid aortic valve, Ventriculomegaly, Macroglossia	OMIM:614501
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Peters Plus Syndrome	Postnatal growth retardation, Brachycephaly, Polyhydramnios, Rhizomelia, Spina bifida occulta, Di...	ORPHA:709
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Renal hypoplasia/aplasia, Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal lo...	ORPHA:2166
Kleefstra Syndrome	Brachycephaly, Microcephaly, Cerebral cortical atrophy, Short stature, Agenesis of corpus callosum	ORPHA:261494
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis	OMIM:615947
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Retinal calcification, Papilledema, Developmental cataract	ORPHA:93325
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplasia of the thymus, Cataract, Iris coloboma	ORPHA:861
Blau Syndrome	Anemia, Lymphadenopathy, Cataract, Abnormal optic nerve morphology, Retinopathy, Clear cell renal...	ORPHA:90340
Au-Kline Syndrome	Plagiocephaly, Lipomyelomeningocele, Dolichocephaly, Craniosynostosis, Sagittal craniosynostosis	OMIM:616580
Sweeney-Cox Syndrome	Flat occiput, Cerebellar hypoplasia, Polyhydramnios, Brachycephaly	OMIM:617746
Turnpenny-Fry Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Macrocephaly, Polyhydramnios, Ca...	OMIM:618371
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Kleefstra Syndrome 1	Microcephaly, Brachycephaly	OMIM:610253
Degcags Syndrome	Abnormal renal medulla morphology, Microphthalmia, Hepatomegaly, Anemia, Iron deficiency anemia, ...	OMIM:619488
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Hydrocephalus, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein ...	OMIM:607872
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly, Edema of the dorsum of hands, Cavum septum pellucidum, Cerebellar vermis hypoplasi...	OMIM:274000
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Cerebral atrophy, Plagiocephaly, Thin corpus callosum, Polyhydramnios, Microcephal...	OMIM:618268
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Short umbilical cord, Lateral ventricle dilatation	OMIM:618367
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Cerebral white matter hypoplasia,...	OMIM:616728
Acrodysostosis	Short stature, Frontal bossing, Brachycephaly	ORPHA:950
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Secondary microcephaly, Postnatal growth retardation, Delayed puberty, Brachycephaly, Progressive...	OMIM:616263
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:614800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Postnatal growth retardation, Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Pol...	OMIM:213980
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Atrial septal defect, Lateral ventricle dilatation	OMIM:300896
Kabuki Syndrome 1	Postnatal growth retardation, Hydrocephalus, Short stature, Growth delay, Lateral ventricle dilat...	OMIM:147920
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Dandy-Walker malformation, Patent foramen ovale, Short stature, ...	ORPHA:2745
Jacobsen Syndrome	Spina bifida, Aortic valve stenosis, Short stature, Growth delay, Agenesis of corpus callosum, In...	ORPHA:2308
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Fumarase Deficiency	Perimembranous ventricular septal defect, Choroid plexus cyst, Agenesis of corpus callosum, Ventr...	OMIM:606812
Teebi-Shaltout Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Supravalvar pulmonary stenosis, Aortic valve stenosis, Umbilical hernia, Short stature, Joint con...	OMIM:618164
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypoplasia of the corpus callosum, Brachycephaly, Abnormal cortical gyration, Dandy-Walker malfor...	OMIM:300968
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers	OMIM:601812
Cartilage-Hair Hypoplasia	Brachycephaly, Spinal dysraphism, Rhizomelia, Disproportionate short-limb short stature	ORPHA:175
Scalp-Ear-Nipple Syndrome	Short stature, Cardiac myxoma, Lateral ventricle dilatation	OMIM:181270
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Cousin Syndrome	Microcornea, Hydronephrosis, Microphthalmia	OMIM:260660
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Microcornea, Zonular cataract, Cataract	OMIM:268400
Townes-Brocks Syndrome	Abnormality of the kidney, Microphthalmia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesi...	ORPHA:857
Duane Retraction Syndrome	Microcephaly, Plagiocephaly, Spina bifida occulta	ORPHA:233
Charge Syndrome	Microphthalmia, Anophthalmia, Coloboma, Unilateral microphthalmos, Cataract, Retinal coloboma, Re...	OMIM:214800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Dolichocephaly, Umbilical hernia	ORPHA:1101
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Spina bifida occulta, Elbow flexion contracture, Short stature, Agene...	OMIM:151050
Frontofacionasal Dysplasia	Brachycephaly, Cranium bifidum occultum, Hypoplasia of the frontal bone	OMIM:229400
Monosomy 13Q14	Cataract, Retinoblastoma, Microphthalmia, Iris coloboma	ORPHA:1587
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly	OMIM:610968
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
9Q33.3Q34.11 Microdeletion Syndrome	Microcephaly, Plagiocephaly, Brachycephaly, Abnormal periventricular white matter morphology	ORPHA:495818
Hydranencephaly	Intrauterine growth retardation, Ventriculomegaly, Postnatal growth retardation, Dilatation of th...	ORPHA:2177
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Proportionate short stature, Abnormal heart morphology, Progressive v...	ORPHA:500150
Arthrogryposis And Ectodermal Dysplasia	Microcephaly, Brachycephaly, Short stature	OMIM:601701
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Dense posterior cortical cataract, Bicarbonaturia, Microphthalm...	OMIM:309000
Neurofaciodigitorenal Syndrome	Intrauterine growth retardation, Plagiocephaly, Brachycephaly, Short stature	ORPHA:2673
Doors Syndrome	Brachycephaly, Polyhydramnios, Sirenomelia, Spina bifida occulta, Prominent occiput, Polymicrogyr...	ORPHA:79500
Oculodentodigital Dysplasia	Cataract, Neurogenic bladder, Microcornea, Microphthalmia	OMIM:164200
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Retinoblastoma, Chorioretinal coloboma, Micropenis, Iris coloboma	OMIM:613884
Cranioectodermal Dysplasia 2	Plagiocephaly, Macrocephaly, Rhizomelia, Hydrops fetalis, Polyhydramnios, Cloverleaf skull, Short...	OMIM:613610
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Coloboma, Phimosis, Renal hypoplasia, Cataract	OMIM:309500
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis	OMIM:153400
Branchioskeletogenital Syndrome	Brachycephaly, Blepharochalasis, Microcephaly, Umbilical hernia, Craniosynostosis, Thickened calv...	ORPHA:1299
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Microphthalmia, Renal cyst	OMIM:616300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Partial anomalous...	OMIM:265380
Gapo Syndrome	Growth delay, Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:230740
Craniosynostosis And Dental Anomalies	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Short stature, Trigonocephaly, Frontal ...	OMIM:614188
Roberts Syndrome	Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, Cataract	ORPHA:3103
Weill-Marchesani Syndrome 2	Brachycephaly, Broad skull, Proportionate short stature, Short stature, Umbilical hernia	OMIM:608328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Plagiocephaly, Large placenta, Polyhydramnios, Microcephaly, Short ...	ORPHA:96334
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Ectopic kidney, Corneal ulceration, Pter...	OMIM:263650
Saethre-Chotzen Syndrome	Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:794
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619005
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Periventricular white matter hyperintensities, Plagiocephaly, Turricephaly	OMIM:620224
Holoprosencephaly 3	Ventriculomegaly, Holoprosencephaly	OMIM:142945
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microcephaly, Frontal bossing, Brachycephaly	ORPHA:1236
Crane-Heise Syndrome	Intrauterine growth retardation, Ventriculomegaly	ORPHA:1512
Basal Cell Nevus Syndrome 1	Cataract, Microphthalmia, Iris coloboma	OMIM:109400
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly	ORPHA:2063
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Short stature, Plagiocephaly	ORPHA:2916
Holoprosencephaly 2	Cyclopia, Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris c...	OMIM:157170
Kaufman Oculocerebrofacial Syndrome	Microcephaly, Brachycephaly, Short stature, Hypoplasia of the corpus callosum	OMIM:244450
Weill-Marchesani Syndrome 1	Short stature, Brachycephaly, Broad skull, Proportionate short stature	OMIM:277600
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Macrocephaly, Cerebellar vermis hypoplasia, Optic nerve h...	OMIM:620330
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ventriculomegaly, Hypertrophic cardiomyopathy	OMIM:618222
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Retinal co...	OMIM:113620
Hoxha-Aliu Syndrome	Brachycephaly	OMIM:620662
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Aplasia of the thymus, Prolonged neonatal jaundice, Right ventricular hypertrophy...	OMIM:620186
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cerebral atrophy, Brachycephaly, Growth delay, Hypoplasia of the corpus callosum	OMIM:601353
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Ectopia lentis, Hydr...	OMIM:305600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Parietal foramina, Coronal craniosynostosis, Frontal bossing	ORPHA:85199
Keppen-Lubinsky Syndrome	Flexion contracture, Lateral ventricle dilatation	OMIM:614098
Osteogenesis Imperfecta	Brachycephaly, Macrocephaly, Rhizomelia, Prominent occiput, Hydrocephalus, Relative macrocephaly,...	ORPHA:666
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cerebral atrophy, Brachycephaly, Plagiocephaly, Thin corpus callosum, Reduced cerebral white matt...	OMIM:280000
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Fetal ascites, ...	OMIM:619376
48,Xxxy Syndrome	Brachycephaly	ORPHA:96263
Atelosteogenesis Type Ii	Plagiocephaly, Polyhydramnios, Rhizomelia, Rhizomelic arm shortening	ORPHA:56304
Down Syndrome	Delayed puberty, Brachycephaly, Short stature, Umbilical hernia	ORPHA:870
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, True anophthalmia, Horseshoe kidney	ORPHA:1106
Cree Mental Retardation Syndrome	Brachycephaly	OMIM:606851
Coffin-Siris Syndrome 1	Hypoplasia of the corpus callosum, Postnatal growth retardation, Brachycephaly, Plagiocephaly, Sp...	OMIM:135900
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Severe short stature	OMIM:156400
Chromosome 15Q11.2 Deletion Syndrome	Short stature, Plagiocephaly	OMIM:615656
Hallermann-Streiff Syndrome	Brachycephaly, Proportionate short stature, Microcephaly, Frontal bossing, Cerebellar hypoplasia	ORPHA:2108
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Schinzel-Giedion Syndrome	Neural tube defect, Choroid plexus cyst, Camptodactyly, Abnormal heart morphology, Umbilical hern...	ORPHA:798
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Cerebral calcification, Abnormal periventricular white matter morph...	ORPHA:2785
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Congenital Myopathy 13	Short stature, Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Flexion contra...	OMIM:255995
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Brachycephaly, Turricephaly, Hydrocephalus, Frontal bossing, Craniosynostosis	ORPHA:95699
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Microcephaly, Brachycephaly	ORPHA:521445
Costello Syndrome	Rhabdomyosarcoma, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, A...	OMIM:218040
Fibrochondrogenesis	Short stature, Plagiocephaly	ORPHA:2021
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Brachycephaly	OMIM:250250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Short stature, Thickened calvaria, Brachycephaly	OMIM:309583
Microphthalmia, Syndromic 6	Microphthalmia, Retinal dystrophy, Anophthalmia, Coloboma, Microcornea, Renal hypoplasia, Scleroc...	OMIM:607932
Gaucher Disease	Delayed puberty, Hydrocephalus, Abnormal heart valve morphology, Mitral valve calcification, Shor...	ORPHA:355
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Loeys-Dietz Syndrome 5	Short stature, Dolichocephaly, Brachycephaly, Growth delay	OMIM:615582
Genitopatellar Syndrome	Hip contracture, Colpocephaly, Agenesis of corpus callosum, Knee flexion contracture, Atrial sept...	OMIM:606170
Cornelia De Lange Syndrome 1	Microcephaly, Brachycephaly, Intrauterine growth retardation, Short stature	OMIM:122470
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Plagiocephaly, Palpebral edema, Macrocephaly, Hydrocephalus, Microcephaly, Dolic...	OMIM:619475
Meester-Loeys Syndrome	Camptodactyly, Short stature, Joint contracture, Mitral valve prolapse, Umbilical hernia, Ventric...	OMIM:300989
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Ventriculomegaly	OMIM:300858
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Reduced cerebral white matter...	OMIM:610442
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly	ORPHA:371428
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Hypospadias, Accessory spleen, Long penis, Polycystic kidney dysplasia, Coloboma,...	OMIM:268300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Microcephaly, S...	OMIM:309590
Arboleda-Tham Syndrome	Plagiocephaly, Microcephaly, Frontal bossing, Growth delay, Intrauterine growth retardation, Cran...	OMIM:616268
Fucosidosis	Brachycephaly	ORPHA:349
Choreoacanthocytosis	Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Lateral ventricle dilatation, D...	ORPHA:2388
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Thin corpus callosum, Macrocephaly, Cerebellar vermis hypoplasia, Optic nerve hypo...	OMIM:620455
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Polymicrogyria, Relative macrocephaly, Severe intrauterine growth retardation, Cra...	ORPHA:3455
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Hypospadias, Antecubital pterygium, Micropenis, Horseshoe ki...	OMIM:609945
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Polyhydramnios, Microcephaly, Frontal bossing, Short stature, Intrauterine growth ...	OMIM:617157
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Plagiocephaly, Short stature	ORPHA:3042
Multicentric Osteolysis, Nodulosis, And Arthropathy	Short stature, Frontal bossing, Brachycephaly	OMIM:259600
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Iris atrophy, Ectopia pupillae, Duplication of renal pelvis...	ORPHA:261552
Kbg Syndrome	Microcephaly, Brachycephaly, Short stature	OMIM:148050
Distal Deletion 12Q	Brachycephaly, Macrocephaly, Microcephaly, Frontal bossing, Short stature, Growth delay	ORPHA:96149
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Hydrocephalus, Bacterial endocarditis, Mitral valve calcification, Growth delay,...	ORPHA:2072
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Polyhydramnios	OMIM:618548
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Hypospadias, Cardiomegaly, Renal artery stenosis, Renov...	ORPHA:3472
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Skin Creases, Congenital Symmetric Circumferential, 2	Ureterocele, Microcornea, Microphthalmia, Hypospadias	OMIM:616734
Femoral-Facial Syndrome	Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Short stature, Camptodactyly ...	OMIM:134780
X-Linked Intellectual Disability, Snyder Type	Short stature, Megalencephaly, Cerebral edema, Brachycephaly	ORPHA:3063
Monosomy 9P	Brachycephaly, Microcephaly, Trigonocephaly, Agenesis of corpus callosum, Calvarial skull defect	ORPHA:261112
Wolf-Hirschhorn Syndrome	Hydrocephalus, Severe postnatal growth retardation, Short stature, Growth delay, Decreased muscle...	OMIM:194190
Aicardi-Goutières Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Degeneration of the striatum, Cerebral calcific...	ORPHA:51
Hunter-Macdonald Syndrome	Short stature, Brachycephaly, Umbilical hernia	OMIM:611962
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Microphthalmia, Micropenis	OMIM:617925
Fraser Syndrome 1	Bilateral microphthalmos, Renal hypoplasia/aplasia, Hypospadias, Anophthalmia, Corneal opacity, R...	OMIM:219000
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Craniosynostosis, Global brain atrophy	ORPHA:369837
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Astigmatism, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pel...	ORPHA:261537
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Hypospadias, Microcornea, Chorioretinal coloboma, Ecto...	OMIM:235730
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Short stature, Parietal bo...	OMIM:264090
Frank-Ter Haar Syndrome	Hypoplasia of the corpus callosum, Flat occiput, Brachycephaly, Growth delay	OMIM:249420
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Anopht...	OMIM:309800
Hamamy Syndrome	Brachycephaly, Craniosynostosis	OMIM:611174
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Astigmatism, Urinary incontinence, Hypospadias, Multic...	ORPHA:2152
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Short stature, Coro...	OMIM:101400
Mend Syndrome	Cataract, Microphthalmia	ORPHA:401973
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Plagiocephaly, Polymicrogyria	ORPHA:45358
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Bilateral microphthalmos, Unilateral renal agenesis, Optic nerve hypop...	ORPHA:508488
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing	OMIM:616078
3-Methylglutaconic Aciduria, Type Viii	Increased CSF lactate, Ventriculomegaly, Neonatal death, Growth delay	OMIM:617248
Hydrolethalus Syndrome 1	Microphthalmia, Hydronephrosis, Hypospadias, Accessory spleen	OMIM:236680
Ayme-Gripp Syndrome	Cerebral atrophy, Craniofacial asymmetry, Brachycephaly, Short stature	OMIM:601088
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Microcephaly, Brachycephaly, Short stature, Growth delay	OMIM:619950
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Congenital Disorder Of Deglycosylation 1	Microcephaly, Brachycephaly	OMIM:615273
Autosomal Recessive Faciodigitogenital Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:1974
14Q22Q23 Microdeletion Syndrome	Short stature, Brachycephaly, Agenesis of corpus callosum	ORPHA:264200
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Delayed puberty, Dysplastic corpus callosum, Plagiocephaly, Re...	ORPHA:466791
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia	OMIM:610829
Myhre Syndrome	Cataract, Microphthalmia	OMIM:139210
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Brachycephaly	OMIM:618223
Carpenter Syndrome 2	Brachycephaly, Trigonocephaly, Frontal bossing, Umbilical hernia, Craniosynostosis, Oxycephaly	OMIM:614976
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Cornelia De Lange Syndrome	Delayed puberty, Brachycephaly, Severe postnatal growth retardation, Increased nuchal translucenc...	ORPHA:199
Witteveen-Kolk Syndrome	Microphthalmia, Hypospadias, Phimosis, Anisocoria, Microphallus, Cataract, Male urethral meatus s...	OMIM:613406
X-Linked Intellectual Disability, Armfield Type	Cerebral cortical atrophy, Macrocephaly, Brachycephaly, Short stature	ORPHA:85276
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Developmental Delay With Or Without Epilepsy	Microcephaly	OMIM:620540
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Microcephaly, Plagiocephaly, Short stature	ORPHA:444077
Holoprosencephaly 1	Cyclopia, Microphthalmia, Micropenis	OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Microphthalmia, Nuclear pulverulent cataract, Sutural cataract	OMIM:612474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Umbilical hernia	OMIM:601776
1P36 Deletion Syndrome	Brachycephaly, Cerebral cortical atrophy, Frontal bossing, Microcephaly, Short stature, Agenesis ...	ORPHA:1606
Liver Disease, Severe Congenital	Macrocephaly at birth, Plagiocephaly, Pulmonary edema, Ascites, Umbilical hernia, Intrauterine gr...	OMIM:619991
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Microcephaly, Plagiocephaly, Postnatal growth retardation, Short stature	OMIM:613355
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Umbilical hernia	ORPHA:1519
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Urethra...	ORPHA:2052
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Proportionate short stature	OMIM:227330
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Mandibuloacral Dysplasia Progeroid Syndrome	Short stature, Frontal bossing, Postnatal growth retardation, Brachycephaly	OMIM:619127
Chime Syndrome	Cerebral cortical atrophy, Brachycephaly	ORPHA:3474
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Periventricular white matter hyperintensities, Ischemic stroke, Brachycephaly, Macrocephaly, Fron...	OMIM:619503
Aspartylglucosaminuria	Cerebral atrophy, Brachycephaly, Microcephaly, Short stature, Thickened calvaria	OMIM:208400
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Viss Syndrome	Brachycephaly, Polyhydramnios, Microcephaly, Frontal bossing, Short stature, Dolichocephaly, Umbi...	OMIM:619472
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Macrocephaly, Cloverleaf skull, Microcephaly, Frontal bossing, Craniosynostosis, O...	OMIM:201750
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypoplasia of the corpus callosum, Delayed puberty, Brachycephaly, Abnormal cortical gyration, Ce...	ORPHA:480880
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Hypospadias, Unilateral renal agenesis, Bilateral renal agenesis,...	ORPHA:672
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Microcephaly, Growth delay, Mild postnatal growth retardation, Skull asymmetry	OMIM:150230
Down Syndrome	Short stature, Brachycephaly	OMIM:190685
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi...	OMIM:164210
Elsahy-Waters Syndrome	Brachycephaly	OMIM:211380
Primrose Syndrome	Hypoplasia of the corpus callosum, Delayed puberty, Brachycephaly, Macrocephaly, Cerebral calcifi...	OMIM:259050
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Microcephaly	OMIM:620538
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Distal lower limb muscle weakness, Claw hand deformity, Upper limb muscle weakness, Upper limb am...	OMIM:620528
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.

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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

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Gene: Sptan1 MGI:98386

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E9.5

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E9.5

MicroCT E14.5-E15.5

Human diseases caused by Sptan1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data