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Gene: Bex3 MGI:1338016

Gene Summary

Name:

brain expressed X-linked 3

Synonyms:

p75NTR-associated Cell Death Executor, Ngfrap1, Nade, DXWsu67e, Gcap27

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
small kidney	Bex3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Bex3^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal skin morphology	Bex3^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal kidney morphology	Bex3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Bex3^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal skin morphology	Bex3^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Bex3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Bex3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Bex3^em1(IMPC)Mbp	HOM	Early adult	9.70×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Bex3 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 Bex3 (0 diseases)
Human diseases predicted to be associated with Bex3 (1005 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bex3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar hypoplasia, Attention deficit hyperac...	OMIM:620106
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Macrocephaly, Acquired, With Impaired Intellectual Development	Impulsivity, Aggressive behavior, Sparse eyebrow, Agenesis of corpus callosum, Attention deficit ...	OMIM:618286
Polymicrogyria, Bilateral Temporooccipital	Delirium, Ventriculomegaly, Aggressive behavior	OMIM:612691
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Jaw swelling, Inappropriate laughter, Ventriculomegaly	OMIM:619323
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Progressive neurologic deterioration, Dysphagia, Mental deterioration, Ventri...	OMIM:613925
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Micrognathia	OMIM:619501
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Micrognathia, Synophrys, Aplasia/Hypoplasia of the cerebellum, Downslanted palpebral fissures, Ve...	ORPHA:3207
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormal repetitive mannerisms, Hydrocephalus, Attention deficit hyperactivity ...	OMIM:618709
Microcephaly 5, Primary, Autosomal Recessive	Highly arched eyebrow, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis ...	OMIM:608716
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Ventriculomegaly	ORPHA:329228
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Confusion, Depression, Dementia, Mental deterioration, Emotional lability, Ve...	OMIM:615362
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Ventriculomegaly, Dysplastic corpus callosum, Compulsive behaviors	ORPHA:500166
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms, Ventricul...	OMIM:617862
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar...	ORPHA:137831
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Ventriculomegaly	OMIM:613402
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly	OMIM:618677
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:171703
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Olivopontocerebellar Atrophy-Deafness Syndrome	Olivopontocerebellar atrophy, Ventriculomegaly	ORPHA:2732
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615763
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Porencephaly	Ventriculomegaly	ORPHA:2940
Intellectual Developmental Disorder, Autosomal Recessive 69	Cerebellar hypoplasia, Ventriculomegaly, Hyperplasia of the maxilla	OMIM:618383
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms, Ventriculom...	OMIM:619150
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion...	OMIM:172700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Upslanted palpebral fissure, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616486
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Downslanted palpebral fissures, Compulsive behavior...	OMIM:613670
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Micrognathia	OMIM:616570
Intellectual Developmental Disorder, Autosomal Recessive 46	Mandibular prognathia, Epicanthus, Aggressive behavior, Synophrys, Self-injurious behavior, Agita...	OMIM:616116
Gombo Syndrome	Microphthalmia	OMIM:233270
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly, Stereotypical hand wringing	OMIM:619561
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Ventriculomegaly, Depression, Irritability, Dementia, Cerebell...	ORPHA:248111
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Lissencephaly 1	Cerebellar hypoplasia, Ventriculomegaly	OMIM:607432
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:1568
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behavior, Micr...	OMIM:618342
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Ventriculomegaly	OMIM:618730
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Micrognathia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar d...	OMIM:616531
Christianson Syndrome	Cerebellar atrophy, Mandibular prognathia, Thick eyebrow, Inappropriate laughter, Dysphagia, Apla...	ORPHA:85278
Bowen-Conradi Syndrome	Ventriculomegaly, Micrognathia	ORPHA:1270
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Ventriculomegaly	ORPHA:1084
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Self-injurious behavior, Downslanted palpebral fissures, Retrognathia, Abn...	OMIM:615637
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Epicanthus, Hyperactivity, Telecanthus, Aggressive behavior, Upslanted palpebral fissure, Agenesi...	OMIM:615286
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Upslanted palpebral fissure, Ventriculomegaly	ORPHA:168624
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Ventriculomegaly	OMIM:301107
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Hydrocephalus, Aggressive behavior	OMIM:619470
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms, Thin eyebrow	OMIM:619690
Microlissencephaly	Cerebellar atrophy, Ventriculomegaly	ORPHA:1083
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly, Micrognathia	ORPHA:1261
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, O...	OMIM:611040
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Upslanted palpebral fissure, Abnormal repetitive...	ORPHA:228384
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Peho-Like Syndrome	Cerebellar atrophy, Epicanthus, Retrognathia, Ventriculomegaly	OMIM:617507
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Stereotypical hand wringing, Self-injurious behavior, Inappropriate laughter,...	OMIM:614254
Kohlschutter-Tonz Syndrome	Dementia, Cerebellar hypoplasia, Enamel hypoplasia, Ventriculomegaly, Amelogenesis imperfecta	OMIM:226750
N-Acetylaspartate Deficiency	Short attention span, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Foxg1 Syndrome	Agenesis of corpus callosum, Impaired social interactions, Bruxism, Cognitive impairment, Abnorma...	ORPHA:561854
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Emotional lability, Dementia, Ventriculomegaly	OMIM:206570
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner...	OMIM:612069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Upslanted palpebral fissure, Lateral ventricle dilatation, Abnormal rep...	OMIM:613443
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition...	OMIM:600795
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Epicanthus, Highly arched eyebrow, Micrognathia, Repetitive compulsive behavior, B...	ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Highly arched eyebrow, Syn...	OMIM:617751
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Optic atrophy	OMIM:274270
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Developmental And Epileptic Encephalopathy 64	Epicanthus, Thick eyebrow, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Self-injurious be...	OMIM:618004
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Lissencephaly 3	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:611603
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation, Shallow orb...	OMIM:101600
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:617820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Micrognathia, Hydrocephalus, Shallow orbits, Dentinogenesis imperfec...	OMIM:112240
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Epicanthus, Telecanthus, Thick eyebrow, Sparse eyebrow, Self-injurious behavior, Recurrent hand f...	OMIM:617268
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
Cornelia De Lange Syndrome 2	Thick eyebrow, Highly arched eyebrow, Micrognathia, Synophrys, Long eyelashes, Cognitive impairme...	OMIM:300590
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella...	OMIM:304100
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:85179
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hsd10 Disease	Short attention span, Abnormal social behavior, Ventriculomegaly, Dysphagia	ORPHA:391417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst	OMIM:613151
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Synophrys, Dental malocclusion, Abnormal repetitive mannerisms	OMIM:615541
Nasu-Hakola Disease	Hydrocephalus, Frontal lobe dementia, Irritability, Disinhibition, Memory impairment, Ventriculom...	ORPHA:2770
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Intellectual Developmental Disorder, Autosomal Dominant 51	Epicanthus, Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorde...	OMIM:617788
Shukla-Vernon Syndrome	Cerebellar atrophy, Impulsivity, Aggressive behavior, Downslanted palpebral fissures, Attention d...	OMIM:301029
Microcephaly 17, Primary, Autosomal Recessive	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:617090
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Ventriculom...	ORPHA:101070
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Renal hypoplasia	OMIM:615665
4Q21 Microdeletion Syndrome	Synophrys, Self-injurious behavior, Agenesis of corpus callosum, Long eyelashes, Cerebellar hypop...	ORPHA:238750
Blepharophimosis-Impaired Intellectual Development Syndrome	Ptosis, Epicanthus, Sparse eyelashes, Highly arched eyebrow, Hypoplasia of the pons, Sparse eyebr...	OMIM:619293
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Ventriculomegaly, Cognitive impairment, Fatigable weakness of skeletal muscles	ORPHA:206559
Pontocerebellar Hypoplasia, Type 9	Hypoplasia of the pons, Irritability, Cerebellar hypoplasia, Dysphagia, Downslanted palpebral fis...	OMIM:615809
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Optic atrophy, Optic disc pallor, Macular atrophy	OMIM:616171
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Epicanthus, Abnormal dental enamel morphology, Carious teet...	ORPHA:10
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Superior cerebellar dysplasia, Dandy-Walker malformation, P...	OMIM:617622
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Ventriculomegaly, Aggressive behavior	OMIM:300699
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Epicanthus, Aggressive behavio...	OMIM:620242
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Ventriculomegaly	OMIM:617904
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebell...	OMIM:300486
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Ventriculomegaly, Progressive neurologic deterioration	OMIM:611722
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:300088
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cystic renal dysplasia, Optic disc pallor, Ectopic kidney	OMIM:613730
Catel-Manzke Syndrome	Highly arched eyebrow, Ventriculomegaly, Micrognathia	ORPHA:1388
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Microphthalmia, Hematuria, Optic atrophy	ORPHA:1473
3-Hydroxyisobutyric Aciduria	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Micrognathia	ORPHA:939
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Ventriculomegaly	OMIM:616540
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Downslanted pa...	OMIM:615433
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow...	OMIM:620292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cere...	OMIM:613153
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata...	OMIM:607485
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Long palpebral fissure, Retrognathia, Agenesis of corpus call...	OMIM:614583
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Macdermot-Winter Syndrome	Highly arched eyebrow, Ventriculomegaly	OMIM:247990
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Shyness, Upslanted palpebral fissure, Attention deficit hyperact...	OMIM:301030
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Depression, Dementia, Progressive language deterioration, Cognitive impairmen...	ORPHA:79264
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Ventriculomegaly	OMIM:620200
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depress...	ORPHA:449291
Congenital Hydrocephalus	Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly, Colpocephaly	ORPHA:2185
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Mandibular prognathia, Almond-shaped palpebral fissure, Epiblepharon, Partial...	OMIM:619103
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Self-injurious behavior, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619922
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Cerebellar agenesis, Dandy-Walker malform...	OMIM:617967
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Epicanthus, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Ce...	OMIM:618347
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Microphthalmia, Abnormality of retinal pigmentation, Optic disc pallor	OMIM:251270
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Highly arched eyebrow, Ventriculomegaly	OMIM:618008
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the pons, Self-injurious behavior, Agenesis of corpus callosum, Cerebellar hypoplas...	OMIM:617695
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms, Cerebellar ver...	OMIM:617435
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Micrognathia, Hydrocephalus, Retrogn...	ORPHA:163961
Li-Ghorbani-Weisz-Hubshman Syndrome	Epicanthus, Telecanthus, Upslanted palpebral fissure, Attention deficit hyperactivity disorder, V...	OMIM:618974
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Short attention span, Impulsivity, Aggressive behavior, Tongue thrusting, Att...	OMIM:619580
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Shallow orbits	OMIM:123500
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Shallow orbits, Downslanted palpebral fissures, Micrognathia	ORPHA:1129
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Highly arched eyebrow, Aggressive behavior, Downslanted palpebral fiss...	OMIM:618825
Microcephaly-Cardiomyopathy Syndrome	Cognitive impairment, Ventriculomegaly	ORPHA:2515
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Impaired social interactions	OMIM:617051
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Short attention span, Epicanthus, Cerebellar vermis hypoplasia, Micrognathia, Bilateral ptosis, P...	ORPHA:300570
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ventriculomegaly, Retrognathia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder	OMIM:619556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic...	OMIM:608836
Smith-Magenis Syndrome	Mandibular prognathia, Hyperactivity, Synophrys, Self hugging, Head-banging, Onychotillomania, Ab...	OMIM:182290
Biemond Syndrome Type 2	Microphthalmia, Hypospadias	ORPHA:141333
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Shallow orbits, Micrognathia, Ventriculomegaly, Dysphagia	ORPHA:73230
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Cofs Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
6Q25 Microdeletion Syndrome	Epicanthus, Micrognathia, Upslanted palpebral fissure, Agenesis of corpus callosum, Downslanted p...	ORPHA:251056
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Hydrocephalus, Chiari type I malformation, Long eyelashes, Inappropriate laughter, Co...	OMIM:618476
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Abnormal repetitive mannerisms, Shyness	ORPHA:280763
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Depression, Dementia, Cognitive impairment, Memory impairment, ...	ORPHA:157941
Luscan-Lumish Syndrome	Mandibular prognathia, Shyness, Aggressive behavior, Chiari malformation, Downslanted palpebral f...	OMIM:616831
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Bilateral ptosis, Attention deficit hyperac...	ORPHA:467166
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Cerebellar hypoplasia, Dysphagia, Ventriculomegaly, Ptosis	OMIM:619527
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal cerebellum morphology, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:255182
Congenital Muscular Dystrophy With Intellectual Disability	Cerebellar vermis hypoplasia, Fatigable weakness of skeletal muscles, Abnormal pons morphology, C...	ORPHA:370968
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Vesicoureteral...	OMIM:120200
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Hydrocephalus, Dent...	OMIM:182212
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mmep Syndrome	Microphthalmia	ORPHA:3434
Chromosome 19P13.13 Deletion Syndrome	Chiari type I malformation, Self-injurious behavior, Downslanted palpebral fissures, Ventriculome...	OMIM:613638
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Retinal dysplasia	ORPHA:324416
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms	OMIM:617393
Coffin-Siris Syndrome 6	Epicanthus, Micrognathia, Narrow palpebral fissure, Tics, Downslanted palpebral fissures, Attenti...	OMIM:617808
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly, Progressive neurologic deterioration	OMIM:618251
Autosomal Recessive Primary Microcephaly	Upslanted palpebral fissure, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Ventriculomegaly, Cerebellar cyst	ORPHA:370980
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:231736
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Self-injurious behavior, Ventriculomegaly, Dysphagia	OMIM:617493
Ataxia-Deafness-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:1188
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Mandibular prognathia, Broad eyebrow, Sparse eyebrow, Upslanted palp...	ORPHA:457359
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Cognitive impairment, Ventriculomegaly	OMIM:616680
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618917
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Delayed eruption of teeth, Progressive neurologic deterioration, Micrognathia...	OMIM:214150
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Upslanted palpebral fissure, Irritability, Ventriculomegaly	OMIM:617290
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Epicanthus, Ventriculomegaly, Micrognathia	OMIM:611182
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Hydrocephalus, Long eyelashes, Horizontal eyebrow, At...	OMIM:609757
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Irritability, Ventriculomegaly	OMIM:618241
Radio-Tartaglia Syndrome	Epicanthus, Impulsivity, Aggressive behavior, Micrognathia, Highly arched eyebrow, Synophrys, Lon...	OMIM:619312
Trisomy 5P	Ventriculomegaly, Ptosis	ORPHA:1742
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Micrognathia, Hydrocephalus, Long eyelashes, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Hypoplasia o...	ORPHA:2524
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Almond-shaped palpebral fissure, Synophrys, Partial agenesis of the corpus ca...	OMIM:616212
Rasmussen Subacute Encephalitis	Hyperactivity, Memory impairment, Irritability, Attention deficit hyperactivity disorder, Cogniti...	ORPHA:1929
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru...	OMIM:232200
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hydrocephalus, Dental malocclusion, Chiari type...	OMIM:101200
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Epicanthus, Aggressive behavior, Micrognathia, Almond-shaped palpebral fissure, Self-injurious be...	OMIM:300986
Hydrolethalus Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Micrognathia	OMIM:614120
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Ventriculomegaly	ORPHA:85277
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Long palpebral fissure, Ventriculomegaly, Delayed eruption of teeth	OMIM:619797
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Lamb-Shaffer Syndrome	Hyperactivity, Epicanthus, Micrognathia, Abnormal temper tantrums, Abnormal social behavior, Abno...	ORPHA:530983
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Highly arched eyebrow, Upslanted palpebra...	OMIM:615802
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Upslanted palpebral fissure, Self-inju...	OMIM:600430
Au-Kline Syndrome	Lagophthalmos, Dental malocclusion, Attention deficit hyperactivity disorder, Shallow orbits, Lon...	OMIM:616580
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Shallow orbits, Hydrocephalus, Micrognathia	OMIM:224400
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec...	OMIM:232220
Baker-Gordon Syndrome	Self-injurious behavior, Epicanthus, Abnormal repetitive mannerisms	OMIM:618218
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Hypoplasia of the pons, Synophrys, Long eyelashes, Abnormal repetitive mannerisms, T...	ORPHA:411986
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Microretrognathia, Palpebral edema, Self-injurious behavior, Narrow palpeb...	ORPHA:397612
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Epicanthus, Micrognathia, Aggressive behavior, Upslanted palpebral fissure, A...	OMIM:618659
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Impulsivity, Aggressive behavior, Micrognathia, Self-injurious behavior, L...	OMIM:618914
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Thick eyebrow, Aggressive behavior, Micrognathia, Hydrocephalus, U...	OMIM:619833
Leukoencephalopathy With Vanishing White Matter 4	Ventriculomegaly	OMIM:620314
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Pterygium, Dandy-Walker malformation, Agenesi...	OMIM:225790
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Highly arched eyebrow, Micrognathia, Partial agenesis of the corpus...	OMIM:619775
Snijders Blok-Campeau Syndrome	Epicanthus, Taurodontia, Attention deficit hyperactivity disorder, Enamel hypoplasia, Abnormal re...	OMIM:618205
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Dysplastic corpus call...	ORPHA:171680
Neuronal Intranuclear Inclusion Disease	Ventriculomegaly, Dementia, Cognitive impairment	OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 64	Epicanthus, Micrognathia, Synophrys, Upslanted palpebral fissure, Cerebellar hypoplasia, Attentio...	OMIM:619188
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal size of the palpebral fissures, Highly arched eyebrow, Cerebellar hypoplasia, Abnormal r...	ORPHA:500159
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Depression, Impaired social interactions, Attention deficit hyperactivity...	OMIM:618798
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Galloway-Mowat Syndrome 5	Mandibular prognathia, Epicanthus, Ventriculomegaly	OMIM:617731
Rere-Related Neurodevelopmental Syndrome	Broad eyebrow, Epicanthus, Cerebellar vermis hypoplasia, Micrognathia, Self-injurious behavior, A...	ORPHA:494344
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Self-injurious b...	ORPHA:228402
Isolated Sedoheptulokinase Deficiency	Ventriculomegaly, Shallow orbits	ORPHA:440713
Robinow-Sorauf Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Shallow orbits	OMIM:180750
Narp Syndrome	Irritability, Dementia, Ventriculomegaly	ORPHA:644
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Epicanthus, Cerebellar vermis atrophy, Ventriculomegaly	OMIM:615760
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Epicanthus, Downslanted palpebral fissures, Ventriculomegaly	ORPHA:261295
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly	OMIM:618273
Multiple Mitochondrial Dysfunctions Syndrome 3	Irritability, Ventriculomegaly, Retrognathia, Cognitive impairment	OMIM:615330
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of corpus callosum, Absent extrao...	OMIM:109120
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Upslanted palpebral fissure, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Ventri...	OMIM:617807
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downslanted palpebral fissures, Ventriculomegaly	ORPHA:2643
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Elongat...	OMIM:610688
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Micrognathia, Synophrys, Long eyelashes, Retrognathia, Ventri...	OMIM:300882
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Hyperactivity, Ventriculomegaly, Aggressive behavior, Emotional lability, ...	OMIM:300354
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Aggressive behavior, Micrognathia, Synophrys, Upslanted palpebral fissure, Self-injur...	OMIM:617061
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:168486
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Ve...	ORPHA:485350
Temtamy Syndrome	Highly arched eyebrow, Micrognathia, Hypoplasia of teeth, Agenesis of corpus callosum, Downslante...	OMIM:218340
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Aggressive behavior, Synophrys, Downslanted palpebral fissures, Cerebellar hypoplasia, Attention ...	ORPHA:284169
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Hydroureter	ORPHA:2547
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Houge-Janssens Syndrome 3	Epicanthus, Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitiv...	OMIM:618354
Alazami Syndrome	Short palpebral fissure, Abnormal eating behavior, Sparse eyebrow, Abnormality of the orbital reg...	ORPHA:319671
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
17P13.3 Microduplication Syndrome	Downslanted palpebral fissures, Ventriculomegaly	ORPHA:217385
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Mandibular prognathia, Ventriculomegaly	ORPHA:2172
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Mild fetal ventriculomegaly, Agenesis of corpus callosum, Downs...	OMIM:619435
Cri-Du-Chat Syndrome	Microretrognathia, Short attention span, Hyperactivity, Epicanthus, Aggressive behavior, Anterior...	OMIM:123450
Pyridoxine-Dependent Epilepsy	Restlessness, Irritability, Ventriculomegaly	ORPHA:3006
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
49,Xxxyy Syndrome	Mandibular prognathia, Epicanthus, Micrognathia, Low frustration tolerance, Ventriculomegaly	ORPHA:261534
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Motor deterioration, Dementia, Low frustr...	ORPHA:168491
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Hydrocephalus, Synophrys, Narrow palpebral fissure, Colpocephaly, Retrognathia, Age...	OMIM:620156
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Epicanthus, Ventriculomegaly, Progressive neurologic deterioration	ORPHA:88639
Papillorenal Syndrome	Retinal detachment, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary ...	OMIM:120330
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Epicanthus, Cerebellar vermis hypoplasia, Highly arched eyebrow, Dysplastic corpus callosum, Cere...	OMIM:616900
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Telecanthus, Cerebellar vermis hypoplasia, Micrognathia, Abnormal repetitive mannerisms, Upslante...	OMIM:620073
Aymé-Gripp Syndrome	Bilateral ptosis, Hydrocephalus, Chiari type I malformation, Upslanted palpebral fissure, Long ey...	ORPHA:1272
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Impaired social interacti...	OMIM:610042
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma	OMIM:601794
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Micrognathia, Inappropriate laughter, Abnormal repetitive mannerisms, Stereotypica...	OMIM:614104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Micrognathia, Oral-pharyngeal dysphagia, Dental malocclusio...	OMIM:610883
Microhydranencephaly	Cerebellar hypoplasia, Agenesis of corpus callosum, Self-mutilation, Ventriculomegaly	OMIM:605013
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive mannerisms, D...	ORPHA:927
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Chromosome 5P13 Duplication Syndrome	Epicanthus, Blepharophimosis, Upslanted palpebral fissure, Self-injurious behavior, Agenesis of c...	OMIM:613174
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Thick eyebrow, Highly arched eyebrow, Hydrocepha...	OMIM:602535
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Palpebral edema, Agenesis of corpus callosum, Downslanted palp...	ORPHA:261144
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Upslanted palpebral fissure, Cognitive impairment, Agenesis of corpus...	OMIM:613735
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Ventriculomegaly, Shallow orbits	OMIM:612394
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Pierpont Syndrome	Microphthalmia, Micropenis	OMIM:602342
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Mandibular prognathia, Epicanthus, Synophrys, Stereotypical hand wringing, Up...	OMIM:617804
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly	OMIM:602501
Warburg Micro Syndrome 1	Microphthalmia, Optic atrophy	OMIM:600118
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity disorder, Conjunctiva...	OMIM:619121
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Retrocerebellar cyst, Diffuse cerebellar atrophy, Ventriculomegaly, Ptosis	ORPHA:363429
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Abnormal dental enamel morphology, Abnormal eyelid morphology, Hydrocephalus, Aplasia...	ORPHA:1812
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary...	ORPHA:208447
Proximal 16P11.2 Microdeletion Syndrome	Micrognathia, Chiari type I malformation, Impaired social interactions, Attention deficit hyperac...	ORPHA:261197
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
1P31P32 Microdeletion Syndrome	Chiari type I malformation, Attention deficit hyperactivity disorder, Ventriculomegaly, Compulsiv...	ORPHA:401986
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ...	ORPHA:370959
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Shallow orbits, Micrognathia	OMIM:617306
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Ventriculomegaly	OMIM:610333
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Cognitive impairment	ORPHA:858
Bresek Syndrome	Vesicoureteral reflux, Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia	ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Long eyelashes, Incisor macrodontia, Ventriculomegaly	OMIM:615502
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Hyperactivity, Cerebellar vermis hypoplasia, Epicanthus, Micrognathia, Spa...	OMIM:619720
Marbach-Rustad Progeroid Syndrome	Eruption failure, Shallow orbits, Delayed eruption of primary teeth, Micrognathia	OMIM:619322
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Micrognathia, Hydrocephalus, Synophrys, Upslanted palpebral fissure, Age...	ORPHA:238769
Chromosome 15Q11.2 Deletion Syndrome	Micrognathia, Blepharophimosis, Diminished ability to concentrate, Attention deficit hyperactivit...	OMIM:615656
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Shallow orbits, Micrognathia, Attention deficit hyperactivity disorder, Dysphagia	OMIM:620029
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Long eyelashes, Ventriculomegaly, Micrognathia	ORPHA:48431
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly	OMIM:606854
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Dysphagia, Ventriculomegaly	ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 33	Progressive neurologic deterioration, Irritability, Cerebellar hypoplasia, Dysphagia, Ventriculom...	OMIM:618253
Developmental And Epileptic Encephalopathy 66	Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Synophrys, Macrodontia of permanent...	OMIM:618067
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Phelan-Mcdermid Syndrome	Thick eyebrow, Epicanthus, Palpebral edema, Aggressive behavior, Micrognathia, Tongue thrusting, ...	OMIM:606232
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Micrognathia, Aqueductal stenosis, Hypoplasia of the pons, Synophrys, Part...	OMIM:619512
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Developmental And Epileptic Encephalopathy 31B	Almond-shaped palpebral fissure, Irritability, Colpocephaly, Choking episodes, Long palpebral fis...	OMIM:620352
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Ventriculomegaly, Aggressive behavior	ORPHA:457260
Pettigrew Syndrome	Mandibular prognathia, Ventriculomegaly, Cerebellar vermis hypoplasia, Aggressive behavior, Aqued...	OMIM:304340
Lissencephaly 8	Microphthalmia, Optic atrophy	OMIM:617255
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Ventriculomegaly, Microgna...	OMIM:619074
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Short attention span, Ventriculomegaly, Thick eyebrow, Carious teeth, ...	OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 34	Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Bruxism, Abnormal repetitiv...	OMIM:616351
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Renal hypoplasia	OMIM:619053
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Natal tooth, Micrognathia, Long eyelashes, Dysphagia, Abnormal repetitive man...	OMIM:617802
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Epicanthus, Aggressive behavior, Synophrys, Self-biting, Downslanted palpebral fis...	ORPHA:3306
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal repetitive mannerisms...	OMIM:619725
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Agenesis of corpus callosum, Ventriculomegaly, Micrognathia	OMIM:300215
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal ...	ORPHA:313892
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
22Q11.2 Duplication Syndrome	Epicanthus, Micrognathia, Downslanted palpebral fissures, Attention deficit hyperactivity disorde...	ORPHA:1727
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Retinal detachment, Macular atrophy	OMIM:212550
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Upslanted palpebral fissure, Retrognathia, Abnormal repetitive mannerisms	OMIM:619092
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Coffin-Siris Syndrome 7	Hyperactivity, Epicanthus, Severe temper tantrums, Chiari type I malformation, Downslanted palpeb...	OMIM:618027
H Syndrome	Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cerebellar dysplasia, Abnormal repetitive mannerisms, Self-mutilation, Depression	ORPHA:457240
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Synophrys, Irritability, Abnormal repetitive mannerisms	ORPHA:391307
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Micrognathia, Irritability, Agenesis of corpus callosum, Ventriculo...	ORPHA:99742
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Intellectual Developmental Disorder, X-Linked 12	Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Depression	OMIM:300957
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly, Highly arched eyebrow, Micrognathia, Cognitive impairment, Short palpebral fissure	ORPHA:2083
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Epicanthus, Micrognathia, Irritability, Ventriculomegaly	OMIM:615851
Choreoacanthocytosis	Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary movements, Hyperactiv...	ORPHA:2388
Smith-Magenis Syndrome	Mandibular prognathia, Delayed eruption of primary teeth, Micrognathia, Synophrys, Upslanted palp...	ORPHA:819
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Retrocerebellar cyst, Shallow...	OMIM:601812
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Epicanthus, Repetitive compulsive behavior, Bruxism, Depression, Upslanted palpebral fissure, Hos...	OMIM:300260
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thick eyebrow, Micrognathia, Synophrys, Long eyelashes, Horizontal eyebrow, Ventriculomegaly	OMIM:618381
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Sparse lateral eyebrow, Ventriculomegaly, Micrognathia	OMIM:617616
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Optic atrophy, Abnormality of the ureter, Apla...	ORPHA:3378
Pilarowski-Bjornsson Syndrome	Almond-shaped palpebral fissure, Abnormal repetitive mannerisms, Long eyelashes, Downslanted palp...	OMIM:617682
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia	OMIM:617914
Weiss-Kruszka Syndrome	Epicanthus, Highly arched eyebrow, Agenesis of corpus callosum, Colpocephaly, Downslanted palpebr...	OMIM:618619
Early-Onset Autosomal Dominant Alzheimer Disease	Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc...	ORPHA:1020
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Mandibular prognathia, Ventriculomegaly	OMIM:612936
Tatton-Brown-Rahman Syndrome	Epicanthus, Thick eyebrow, Chiari type I malformation, Narrow palpebral fissure, Horizontal eyebr...	OMIM:615879
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Cerebellar hypoplasia, Dysphagia, Agenesis of corpus callosum, Ventriculo...	OMIM:617669
Bainbridge-Ropers Syndrome	Epicanthus, Highly arched eyebrow, Micrognathia, Synophrys, Retrognathia, Upslanted palpebral fis...	OMIM:615485
Chromosome 2P16.1-P15 Deletion Syndrome	Epicanthus, Telecanthus, Hypoplasia of the pons, Downslanted palpebral fissures, Attention defici...	OMIM:612513
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Ventriculomegaly	OMIM:616299
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C...	OMIM:613154
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical bo...	OMIM:300912
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Intellectual Developmental Disorder, Autosomal Dominant 38	Epicanthus, Aggressive behavior, Hair-pulling, Self-injurious behavior, Downslanted palpebral fis...	OMIM:616393
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly, Delayed early-childhood social milestone development, Dysphagia, Aggressive beh...	ORPHA:289483
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur...	OMIM:614105
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebellar vermis hypoplasia, Thick eyebrow, Dysplastic corpus callosum, Hydroceph...	OMIM:617281
Alg9-Cdg	Cerebellar atrophy, Microretrognathia, Telecanthus, Micrognathia, Wide anterior fontanel, Irritab...	ORPHA:79328
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious beh...	OMIM:619575
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Almond-shaped palpebral fissure, Downslanted palpebral fissures, Abnormal repetitive mannerisms, ...	ORPHA:529965
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Upslanted palpebral fissure, Self-injurious behavior, Ventriculomegaly	OMIM:618707
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Recurrent hand flapping, Agitation, Ventriculomegaly, Bruxism	OMIM:617903
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Long palpebral fissure, Retrognathia, Agenesis of corpus callo...	OMIM:243310
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Aggressive behavior, Wide anterior fontanel, Lateral ventricle dilatation, Downslanted palpebral ...	ORPHA:457279
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Prominent eyelashes, Stereotypical hand wringing, Upslanted palpebral...	OMIM:619179
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment	ORPHA:209956
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Irritability, Cerebellar hypoplasia, Ventriculomegaly	OMIM:615182
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Retrognathia, Sparse medial eyebro...	OMIM:618804
Prader-Willi Syndrome Due To Translocation	Micrognathia, Carious teeth, Almond-shaped palpebral fissure, Retrognathia, Head-banging, Upslant...	ORPHA:177907
Linear Verrucous Nevus Syndrome	Mental deterioration, Ventriculomegaly, Dandy-Walker malformation	ORPHA:2611
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Micrognathia, Lateral ventricle dilatation, Cerebellar hypoplasia, ...	OMIM:618291
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Epicanthus, Cerebellar vermis hypoplasia, Telecanthus, Thick eyebrow, Upslanted palpebral fissure...	OMIM:619383
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Xq28 (MECP2) duplication	Depression, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Basilicata-Akhtar Syndrome	Telecanthus, Epicanthus, Retrognathia, Downslanted palpebral fissures, Ventriculomegaly	OMIM:301032
Keppen-Lubinsky Syndrome	Shallow orbits, Lateral ventricle dilatation, Micrognathia	OMIM:614098
Optic Atrophy 11	Hyperactivity, Stereotypical body rocking, Cerebellar hypoplasia, Attention deficit hyperactivity...	OMIM:617302
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Shallow orbits, Ptosis, Long palpebral fissure, Bruxism	ORPHA:453499
Rauch-Steindl Syndrome	Hyperactivity, Epicanthus, Telecanthus, Highly arched eyebrow, Micrognathia, Aggressive behavior,...	OMIM:619695
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Thick eyebrow, Aggressive behavior, Narrow palpebral fissure, Chiari malfo...	ORPHA:404443
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst	OMIM:611561
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Microphthalmia	ORPHA:2788
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Cerebellar hypoplasia, Epicanthus, Abnormal cerebellar vermis morphology, Ventriculomegaly	ORPHA:3224
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enl...	ORPHA:79259
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Retrognathia, D...	OMIM:614753
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D...	ORPHA:98784
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Dental malocclusion, Shallow orbits, Bruxism, Long palpebral fissure, Eversion of lateral third o...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Dental malocclusion, Shallow orbits, Bruxism, Long palpebral fissure, Eversion of lateral third o...	ORPHA:352665
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Highly arched eyebrow, Aggressive behavior, Syn...	ORPHA:261494
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Stage 5 chronic kidney dis...	ORPHA:731
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:2772
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Aggressive behavior, Micrognathia, Synophrys, Congenital ptosis, Eruption failure, At...	ORPHA:476126
Tenorio Syndrome	Mandibular prognathia, Telecanthus, Thick eyebrow, Hydrocephalus, Keratoconjunctivitis sicca, Emo...	OMIM:616260
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Aggressive behavior, Impaired social interactions, Attention deficit hyper...	OMIM:300352
Developmental And Epileptic Encephalopathy 84	Epicanthus, Ventriculomegaly, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:618792
49,Xyyyy Syndrome	Ventriculomegaly, Low frustration tolerance, Impulsivity, Micrognathia	ORPHA:99330
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Holoprosencephaly 7	Hypoplasia of the premaxilla, Hydrocephalus, Synophrys, Partial agenesis of the corpus callosum, ...	OMIM:610828
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Ventriculomegaly, Aggressive behavior	OMIM:300958
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Hogue-Janssen Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly	OMIM:616362
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Downslanted palpebral fissures, Ventriculomegaly, Shyness	OMIM:613744
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cerebrofacioarticular Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla, Dysplastic cor...	ORPHA:314679
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	OMIM:609053
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Epicanthus, Telecanthus, Thick ey...	ORPHA:319182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Wide anterior fontanel, Choroid plexus cyst, Chiari type...	ORPHA:798
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Mild fetal ventriculomegaly, Long eyelashes, Retrog...	OMIM:617190
Vitreoretinochoroidopathy	Retinal detachment, Microphthalmia, Pigmentary retinopathy, Retinal neovascularization	OMIM:193220
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Polyphagia, Eyelid coloboma, Compulsive behaviors, Advanced eruption ...	OMIM:615873
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Hooded eyelid, Micrognathia, Hydrocephalus, Upslanted palpe...	ORPHA:96170
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Joubert Syndrome 37	Microphthalmia, Micropenis, Hydronephrosis	OMIM:619185
Osteogenesis Imperfecta, Type X	Shallow orbits, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Epicanthus, Ventriculomegaly	OMIM:618547
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Gillespie Syndrome	Cerebellar atrophy, Cerebellar hypoplasia, Ventriculomegaly	OMIM:206700
Rahman Syndrome	Telecanthus, Ventriculomegaly	OMIM:617537
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dysphagia, Ventriculomegaly	OMIM:612389
Oculocerebrocutaneous Syndrome	Hydrocephalus, Eyelid coloboma, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebe...	ORPHA:1647
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Familial Exudative Vitreoretinopathy	Rhegmatogenous retinal detachment, Abnormal optic disc morphology, Retinal neovascularization, Mi...	ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Microphthalmia, Retinal neovascularization	OMIM:305390
Houge-Janssens Syndrome 1	Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly, Ptosis	OMIM:616355
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis	OMIM:610756
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Severe temper tantrums, Ventriculomegaly, Aggressive behavior	OMIM:617710
Fg Syndrome Type 1	Micrognathia, Abnormal cerebellum morphology, Hydrocephalus, Attention deficit hyperactivity diso...	ORPHA:93932
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Cerebellofaciodental Syndrome	Aggressive behavior, Hypoplasia of the pons, Sparse eyebrow, Dental malocclusion, Taurodontia, Ce...	OMIM:616202
Cadds	Cerebellar atrophy, Ventriculomegaly, Micrognathia	ORPHA:369942
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Joubert Syndrome 31	Ventriculomegaly	OMIM:617761
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Sparse eyebrow, Long eyelashes, Cerebellar hypoplasia, Attention deficit...	ORPHA:261349
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Synophrys, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive man...	OMIM:617796
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Dysphagia, Agenesis of corpus ca...	ORPHA:500144
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Thick eyebrow, Aggressive behavior, Long eyelashes, Cerebellar hypoplasia,...	OMIM:212066
Monosomy 22Q13.3	Ptosis, Hyperactivity, Epicanthus, Palpebral edema, Hair-pulling, Dental malocclusion, Long eyela...	ORPHA:48652
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Epicanthus, Micrognathia, Downslanted palpebral fissures, Attention defici...	ORPHA:435638
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Microphthalmia, Optic atrophy	OMIM:152950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Oligosacchariduria	ORPHA:163649
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Hypoplasia of the maxilla, Eruptio...	OMIM:166250
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Epicanthus, Hydrocephalus, Enamel hypoplasia, Retrognathia, Ventriculomegaly	OMIM:614576
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Short attention span, Hyperactivity, Dysphagia, Ventriculomegaly	ORPHA:589821
Muscular Dystrophy, Congenital, With Or Without Seizures	Mental deterioration, Ventriculomegaly, Dysphagia	OMIM:620166
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Rhombencephalosynapsis	Microretrognathia, Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydroceph...	ORPHA:59315
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Epicanthus, Hyperactivity, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Micrognathia, Hydrocephalus, Polyphagia, Denta...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Witteveen-Kolk Syndrome	Microretrognathia, Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Aggressive behavior,...	OMIM:613406
Trisomy 1Q	Microretrognathia, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Downslanted...	ORPHA:261344
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Plasminogen Deficiency, Type I	Hydrocephalus, Conjunctivitis, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Orofaciodigital Syndrome Xvi	Retrognathia, Short palpebral fissure, Ventriculomegaly, Ptosis	OMIM:617563
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:255138
Dentici-Novelli Neurodevelopmental Syndrome	Upslanted palpebral fissure, Abnormal repetitive mannerisms	OMIM:619877
Alkuraya-Kucinskas Syndrome	Micrognathia, Hydrocephalus, Upslanted palpebral fissure, Cerebellar hypoplasia, Dandy-Walker mal...	OMIM:617822
Opsismodysplasia	Long palpebral fissure, Shallow orbits	OMIM:258480
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Downslanted palpebral fissures, Long eyelashes, Shallow orbits	OMIM:601353
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Upslanted palpebral fissure, Epicanthus, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Retinal degeneration, Abnormally large globe	OMIM:615249
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Optic atrophy, Retinal coloboma, Microp...	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Nail-biting, Epicanthus, Cerebellar vermis hypoplasia, Telecanthus, Aggres...	OMIM:620330
Sotos Syndrome	Mandibular prognathia, Aggressive behavior, Sparse eyebrow, Partial agenesis of the corpus callos...	OMIM:117550
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Retinal coloboma	ORPHA:2328
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Micrognathia, Hypoplasia of the pons, Hydrocephalus, Synophrys, Cerebellar hypoplasia...	OMIM:614969
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Microphthalmia, Macular coloboma	OMIM:615145
White-Sutton Syndrome	Mandibular prognathia, Hyperactivity, Aggressive behavior, Micrognathia, Upslanted palpebral fiss...	OMIM:616364
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Microretrognathia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, A...	ORPHA:468631
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos	OMIM:615085
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Acromelic Frontonasal Dysplasia	Telecanthus, Choroid plexus cyst, Retrocerebellar cyst, Agenesis of corpus callosum, Ventriculome...	ORPHA:1827
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Aggressive behavior, Synophrys,...	OMIM:610253
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Highly arched eyebrow, Sparse eyebrow, Synophrys, Dental malocclusion, Upslan...	OMIM:616737
Xq12-Q13.3 Duplication Syndrome	Epicanthus, Bulimia, Agitation, Ventriculomegaly	ORPHA:314389
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Downslanted palpebral fissures, Ventriculomegaly	ORPHA:420179
Bilateral Polymicrogyria	Cerebellar atrophy, Micrognathia, Pseudobulbar paralysis, Cognitive impairment, Mental deteriorat...	ORPHA:268940
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Self-injurious behavior, Abnormal shape of the palpebral fissure, Cerebellar hypopla...	ORPHA:261652
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Ventriculomegaly, Self-biting	OMIM:618314
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Optic atrophy, Retinal dysplasia, Micropht...	ORPHA:899
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy	OMIM:614219
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Almond-shaped palpebral fissure, Ventriculomegaly	OMIM:619603
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy	OMIM:612379
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias	ORPHA:77298
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Hydrocephalus, Narrow palpebral fissure, Hy...	OMIM:613603
Mucolipidosis Type Ii	Epicanthus, Cognitive impairment, Shallow orbits	ORPHA:576
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly	OMIM:300855
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Shallow orbits	OMIM:277600
X-Linked Lissencephaly With Abnormal Genitalia	Agenesis of corpus callosum, Ventriculomegaly, Micrognathia	ORPHA:452
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Warburg Micro Syndrome 4	Microphthalmia, Micropenis, Optic atrophy	OMIM:615663
Carey-Fineman-Ziter Syndrome	Epicanthus, Micrognathia, Aplasia/Hypoplasia of the cerebellum, Downslanted palpebral fissures, V...	ORPHA:1358
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Dilated third ventricle, Hydrocephalus, Attention deficit hyper...	ORPHA:500055
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Ptosis	ORPHA:1933
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst	OMIM:603194
Neurocutaneous Melanocytosis	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Chiari malformation, Dandy-Walker malform...	ORPHA:2481
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Agenesis of corpus callosum, Colpocephaly, Downslante...	OMIM:615219
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dandy-Walker malformation, Cerebellar vermis hypoplasia, Epicanthus, Micrognathia, Abnormal cereb...	ORPHA:397715
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Ventriculomegaly, Ptosis	ORPHA:66629
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr...	OMIM:221900
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Cerebellar edema, Irritability, Ventriculomegaly	OMIM:617186
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Aggressive behavior, ...	ORPHA:572798
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Epicanthus, Ventriculomegaly, Telecanthus, Upslanted palpebral fissure, Agenesis of corpus callos...	OMIM:617260
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney	OMIM:617244
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal pons morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst	ORPHA:370997
Refsum Disease	Microphthalmia, Renal insufficiency, Abnormality of retinal pigmentation	ORPHA:773
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Carious teeth, Dysplastic corpus callosum, Dental malocclusion, Retrognathia, Ventric...	ORPHA:363444
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Long palpebral fissure, Hydrocephalus, Ventriculomegaly, Ptosis	OMIM:603387
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Glycine Encephalopathy With Normal Serum Glycine	Long eyelashes, Dysphagia, Retrognathia, Ventriculomegaly, Ptosis	OMIM:617301
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Halperin-Birk Syndrome	Micrognathia, Pseudobulbar paralysis, Colpocephaly, Long eyelashes, Agenesis of corpus callosum, ...	OMIM:618651
Koolen-De Vries Syndrome	Overfriendliness, Epicanthus, Abnormal dental enamel morphology, Upslanted palpebral fissure, Ble...	ORPHA:96169
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Hydrocephalus, Partial absence of cerebellar vermis, Cerebellar hypoplasia,...	OMIM:613150
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Synophrys, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Distal Deletion 3P	Epicanthus, Telecanthus, Micrognathia, Cognitive impairment, Blepharophimosis, Ventriculomegaly, ...	ORPHA:1620
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Moebius Syndrome	Microphthalmia, Micropenis	OMIM:157900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly	ORPHA:60040
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Sifrim-Hitz-Weiss Syndrome	Ventriculomegaly, Epicanthus, Upslanted palpebral fissure, Chiari malformation, Short palpebral f...	OMIM:617159
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Agenesis of corpus callosum, Retrognathia, Downslanted palpebral fissures, Ventriculo...	OMIM:616449
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Agene...	ORPHA:87
Peho Syndrome	Cerebellar atrophy, Epicanthus, Palpebral edema, Hydrocephalus, Ventriculomegaly	ORPHA:2836
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Self-injurious behavior, Ventriculomegaly, Abnormal temper tantrums, Aggressive behavior	ORPHA:404473
Toriello-Carey Syndrome	Telecanthus, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Partial agenesis of the corpus...	ORPHA:3338
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Optic atrophy, Multicystic kidney dysplasia	ORPHA:3301
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hydrocephalus, Rapid neurologic deterioration, Ventriculomegaly	OMIM:272200
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Micrognathia, Upslanted palpebral fissure, Colpocephaly, Dysphagia, Ventri...	ORPHA:261250
Warburg Micro Syndrome 3	Microphthalmia, Micropenis, Optic atrophy	OMIM:614222
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hype...	OMIM:619475
Cog8-Cdg	Cerebellar atrophy, Ventriculomegaly	ORPHA:95428
Joubert Syndrome 14	Microphthalmia, Optic atrophy, Renal cyst	OMIM:614424
Kinsship Syndrome	Mandibular prognathia, Short palpebral fissure, Micrognathia, Synophrys, Bruxism, Long palpebral ...	OMIM:619297
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Micrognathia, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Ventric...	OMIM:617193
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia, Ventric...	ORPHA:488627
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly	OMIM:617397
Schinzel-Giedion Midface Retraction Syndrome	Ventriculomegaly, Shallow orbits	OMIM:269150
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst	OMIM:611134
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Irr...	OMIM:615574
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis	OMIM:602361
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Micrognathia, Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Synophrys, Depression, Irritability, Agenesis of corpus callosum, Ventricu...	ORPHA:96147
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Upslanted palpebral fissure, Attention deficit hyperactivi...	ORPHA:1001
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Epicanthus, Thick eyebrow, Dysphagia, Downslanted palpebral fissures, Ventric...	OMIM:615471
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Chiari type I malformation, Compulsive behaviors, Abnormal repetitive mannerisms, H...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Chiari type I malformation, Compulsive behaviors, Abnormal repetitive mannerisms, H...	ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Microretrognathia, Cerebellar vermis hypoplasia, Oral-pharyngeal dysphagia, S...	OMIM:300966
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Shallow orbits	OMIM:608328
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Retinal coloboma, Vesicoureteral reflu...	OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp...	OMIM:614643
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:1553
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Micrognathia, Abnormal eyelid morphology, Trismus, Abnor...	ORPHA:2671
Adnp Syndrome	Aggressive behavior, Oral-pharyngeal dysphagia, Bilateral ptosis, Advanced eruption of teeth, Abn...	ORPHA:404448
Neu-Laxova Syndrome 2	Ablepharon, Cerebellar hypoplasia, Ventriculomegaly, Micrognathia	OMIM:616038
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thick eyebrow, Highly arched eyebrow, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, E...	OMIM:614701
Congenital Fibrinogen Deficiency	Microphthalmia, Micropenis	ORPHA:335
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ventriculomegaly	ORPHA:466934
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Ventriculomegaly	OMIM:616683
Tay-Sachs Disease	Cerebellar atrophy, Short attention span, Depression, Dysphagia, Memory impairment, Mania, Ventri...	ORPHA:845
Cerebrofaciothoracic Dysplasia	Epicanthus, Cerebellar vermis hypoplasia, Thick eyebrow, Synophrys, Downslanted palpebral fissure...	ORPHA:1394
Rett Syndrome, Congenital Variant	Tongue thrusting, Irritability, Impaired social interactions, Bruxism, Abnormal repetitive manner...	OMIM:613454
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Micrognathia, Upslanted palpebral fissure, Cerebellar hypoplasia, Retrognathia, Ventriculomegaly,...	OMIM:618343
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Short attention span, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:88618
Microcephaly 30, Primary, Autosomal Recessive	Long palpebral fissure, Epicanthus, Ventriculomegaly	OMIM:620183
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dementia, Cognitive impairment, Dysphagia, Subependymal nodules, Ven...	ORPHA:25
Cerebellar-Facial-Dental Syndrome	Micrognathia, Hypoplasia of the pons, Sparse eyebrow, Dental malocclusion, Taurodontia, Cerebella...	ORPHA:444072
Marshall-Smith Syndrome	Retrognathia, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:561
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Micrognathia, Sparse eyebrow, Upslanted palpebral fissure, Dysphagia, Abnorma...	ORPHA:496641
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Optic disc coloboma, Microphthalmia, Hydronephrosis	ORPHA:568
Fanconi Anemia, Complementation Group W	Chiari malformation, Ventriculomegaly	OMIM:617784
Warburg Micro Syndrome 2	Microphthalmia, Micropenis, Optic atrophy	OMIM:614225
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Micrognathia, Hydrocephalus, Upslanted palpebral fissure, Cerebellar hypoplasia, Dand...	OMIM:257300
Transketolase Deficiency	Self-injurious behavior, Conjunctivitis, Attention deficit hyperactivity disorder, Compulsive beh...	ORPHA:488618
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Abnormal repetitive mannerisms	OMIM:619428
Weaver Syndrome	Mandibular prognathia, Epicanthus, Lateral ventricle dilatation, Downslanted palpebral fissures, ...	OMIM:277590
Monosomy 18P	Microphthalmia	ORPHA:1598
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Trichothiodystrophy	Epicanthus, Hypoplasia of mandible relative to maxilla, Carious teeth, Partial agenesis of the co...	ORPHA:33364
Paternal Uniparental Disomy Of Chromosome 6	Shallow orbits, Retrognathia, Micrognathia	ORPHA:96191
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Micrognathia, Lagophthalmos, Trismus, Dysphagia, Retrognathia, Downslanted palpebral ...	OMIM:254940
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Ventriculomegaly, Narrow palpebral fissure, Attention deficit hyperactivity disorder, Retrognathi...	ORPHA:2637
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
De Sanctis-Cacchione Syndrome	Entropion, Conjunctivitis, Mental deterioration, Olivopontocerebellar atrophy, Ventriculomegaly, ...	OMIM:278800
Kapur-Toriello Syndrome	Microphthalmia, Micropenis, Retinal coloboma	OMIM:244300
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Downslanted palpebral fissures, Compulsive behaviors, Agenesis of corpus...	ORPHA:261236
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Highly arched eyebrow, Micrognathia, Trichiasis, Epiblepharon, Colp...	OMIM:618460
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hydrocephalus, Agenesis of corpus callosum, Chiari malformation, Downslanted palpebr...	OMIM:123790
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Telecanthus, Micrognathia, Chiari type I malformation, Upslanted palpebral fissure, Ventriculomeg...	OMIM:620224
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Opitz Gbbb Syndrome	Short attention span, Natal tooth, Telecanthus, Aplasia/Hypoplasia of the cerebellar vermis, Micr...	ORPHA:2745
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney	OMIM:603467
Desmosterolosis	Epicanthus, Micrognathia, Hydrocephalus, Agenesis of corpus callosum, Retrognathia, Downslanted p...	ORPHA:35107
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Ventriculomegaly	OMIM:618052
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Desmosterolosis	Epicanthus, Micrognathia, Hydrocephalus, Partial agenesis of the corpus callosum, Downslanted pal...	OMIM:602398
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Monosomy 9Q22.3	Delayed eruption of teeth, Hyperactivity, Epicanthus, Hydrocephalus, Chiari malformation, Downsla...	ORPHA:77301
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Chiari malform...	ORPHA:2462
Pitt-Hopkins Syndrome	Upslanted palpebral fissure, Self-injurious behavior, Sparse medial eyebrow, Abnormal repetitive ...	OMIM:610954
Roifman-Chitayat Syndrome	Lacrimal duct stenosis, Ventriculomegaly	OMIM:613328
Megalocornea-Intellectual Disability Syndrome	Downslanted palpebral fissures, Epicanthus, Abnormal repetitive mannerisms, Micrognathia	ORPHA:2479
Stromme Syndrome	Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst	OMIM:616538
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Mandibular prognathia, Sparse eyebrow, Upslanted...	OMIM:617011
Joubert Syndrome 2	Renal insufficiency, Optic disc coloboma, Renal cyst, Nephronophthisis, Microphthalmia	OMIM:608091
Holoprosencephaly 14	Cerebellar atrophy, Aqueductal stenosis, Hydrocephalus, Partial absence of cerebellar vermis, Par...	OMIM:619895
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Self-injurious behavior, Retrognathia, Abnormal repetitive mannerisms, Bro...	ORPHA:457351
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Micrognathia, Long eyelashes, Attention deficit hyperactivity disorder, Ab...	OMIM:619005
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Ptosis, Highly arched eyebrow, Sparse eyebrow, Synophrys, Dental malocclusion...	ORPHA:487796
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,...	OMIM:312870
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Keppen-Lubinsky Syndrome	Shallow orbits, Micrognathia	ORPHA:435628
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Cerebellar atrophy, Ventriculomegaly	OMIM:616430
Rodrigues Blindness	Microphthalmia	OMIM:268320
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Absent eyebrow, Persistence of primary teeth, Micrognathia, Nocturnal ...	ORPHA:740
Cardiac-Urogenital Syndrome	Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus	OMIM:618280
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Short attention span, Hyperactivity, Otosclerosis, Impulsivity, Aggr...	ORPHA:580
Oculofaciocardiodental Syndrome	Retinal detachment, Microphthalmia	ORPHA:2712
Mandibuloacral Dysplasia Progeroid Syndrome	Shallow orbits, Sparse eyebrow, Micrognathia	OMIM:619127
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Optic atrophy	OMIM:234050
Developmental And Epileptic Encephalopathy 100	Short palpebral fissure, Micrognathia, Synophrys, Dysphagia, Enamel hypoplasia, Abnormal repetiti...	OMIM:619777
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Epicanthus, Micrognathia, Downslanted palpebral fissures, Ventriculomegaly	OMIM:617729
Tuberous Sclerosis Complex	Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,...	ORPHA:805
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Micrognathia, Wide anterior fontanel, Hooded upper eyelid, Ventriculomegaly, Ptosis	OMIM:618548
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Acromelic Frontonasal Dysostosis	Telecanthus, Choroid plexus cyst, Retrocerebellar cyst, Agenesis of corpus callosum, Downslanted ...	OMIM:603671
Larsen Syndrome	Shallow orbits	OMIM:150250
Distal Deletion 6P	Epicanthus, Micrognathia, Self-injurious behavior, Downslanted palpebral fissures, Ventriculomegaly	ORPHA:96125
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Epicanthus, Thick eyebrow, Aggressive behavior, Synophrys, Self-injurious behavior, Attention def...	ORPHA:466950
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the i...	OMIM:251300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Upper eyelid entropion, Olivopontocerebellar hypoplasia, Hydrocephalus, Agenesis o...	ORPHA:457284
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis	OMIM:241410
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Repetitive compulsive behavior, Stereotypical body rocking, Cerebellar hypoplasia, ...	ORPHA:513456
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Hyperactivity, Impulsivity, Aggressive behavior, Carious teeth, Abnormal fear-induce...	ORPHA:353281
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Retinal coloboma	OMIM:618571
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Cerebellar malformation, Dandy-Walker malform...	OMIM:236670
Mucopolysaccharidosis Type 3	Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Hypersexuality, Hydroce...	ORPHA:581
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias	ORPHA:2505
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Microphthalmia, Optic atrophy, Retinal dysplasia	OMIM:253800
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Pigmentary retinopathy	OMIM:614230
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Self-injurious be...	ORPHA:468678
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad eyebrow, Epicanthus, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Up...	OMIM:616975
Congenital Myopathy 13	Telecanthus, Ventriculomegaly, Micrognathia, Blepharophimosis, Downslanted palpebral fissures, Sh...	OMIM:255995
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Curry-Jones Syndrome	Chiari type I malformation, Agenesis of corpus callosum, Ventriculomegaly, Blepharophimosis	OMIM:601707
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Cerebellar vermis hypoplasia, Synophrys, Upslanted palpebral fissure, Downsla...	OMIM:617330
Cerebrooculonasal Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Dandy-...	OMIM:605627
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Pseudotrisomy 13 Syndrome	Microphthalmia, Micropenis, Renal hypoplasia	OMIM:264480
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Highly arched eyebrow, Micrognathia, Aqueductal stenosis, Hypoplasi...	OMIM:620305
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Unilateral ptosis, Short palpebral fissure, Micrognathi...	ORPHA:508498
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Epicanthus, Abnormal location of the eyebrow, Almond-shaped palpebral fissure, Repetitive compuls...	ORPHA:522077
Saethre-Chotzen Syndrome	Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Cleft of chin, Shallow orbits...	OMIM:101400
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Retinal atrophy, Neurogenic bladder, Hydroureter, Unilate...	ORPHA:90324
Pyruvate Carboxylase Deficiency	Anorexia, Cerebellar gliosis, Subependymal cysts, Abnormal temper tantrums, Compulsive behaviors,...	ORPHA:3008
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Ventriculomegaly, Micrognathia, Upslanted palpebral fissure, Downslanted palpebral...	OMIM:309590
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias	ORPHA:1692
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Horseshoe kidney	ORPHA:65286
Mosaic Trisomy 9	Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Microphthalmia, Hydronephrosis	ORPHA:99776
Pallister-Hall Syndrome	Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Renal cyst, Microphth...	OMIM:146510
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Koolen-De Vries Syndrome Due To A Point Mutation	Ptosis, Epicanthus, Short palpebral fissure, Hydrocephalus, Chiari type I malformation, Upslanted...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ptosis, Epicanthus, Short palpebral fissure, Hydrocephalus, Chiari type I malformation, Upslanted...	ORPHA:363958
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Optic disc coloboma, Horseshoe kidney, Bladder diverticulum, Vesicouretera...	ORPHA:959
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Mental deterioration, Hydrocephalus, Ventriculomegaly, Cognitive impairment	ORPHA:395
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Telecanthus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:2612
Fraser Syndrome 2	Ureteral agenesis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis	OMIM:617666
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Penoscrotal transposition, Hypospadias	OMIM:619148
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis	ORPHA:2059
Caribbean Parkinsonism	Frontal lobe dementia, Dementia, Ventriculomegaly	ORPHA:97355
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Retinal coloboma, Hydronephrosis	ORPHA:2839
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis	OMIM:206900
Martsolf Syndrome 1	Microphthalmia, Micropenis	OMIM:212720
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Epicanthus, Abnormal nasolacrimal...	ORPHA:141099
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Epicanthus, Aggressive behavior, Synophrys, Self-injurious behavior, Attention deficit hyperactiv...	ORPHA:466943
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Epicanthus, Aggressive behavior, Synophrys, Downslanted palpebral fissures,...	OMIM:301066
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Retinal atrophy, Abnormality of retinal pigmentation, Macular atrophy	ORPHA:85167
Oculoauricular Syndrome	Retinal detachment, Phthisis bulbi, Retinal coloboma, Macular hypoplasia, Microphakia, Microphtha...	OMIM:612109
Fanconi Anemia, Complementation Group E	Microphthalmia, Horseshoe kidney, Ectopic kidney	OMIM:600901
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Gapo Syndrome	Epicanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Eruption fail...	OMIM:230740
Coffin-Siris Syndrome 12	Epicanthus, Highly arched eyebrow, Micrognathia, Abnormal repetitive mannerisms, Synophrys, Nonco...	OMIM:619325
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis	OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Atelis Syndrome 2	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:620185
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydron...	OMIM:601186
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
14Q22Q23 Microdeletion Syndrome	Epicanthus, Micrognathia, Agenesis of corpus callosum, Downslanted palpebral fissures, Ventriculo...	ORPHA:264200
Fanconi Anemia, Complementation Group A	Microphthalmia, Horseshoe kidney, Ectopic kidney	OMIM:227650
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Skin Creases, Congenital Symmetric Circumferential, 2	Ventriculomegaly, Epicanthus, Micrognathia, Carious teeth, Synophrys, Upslanted palpebral fissure...	OMIM:616734
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:284160
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Micrognathia, Oral-pharyngeal dysphagia, Sparse eyebrow, Dow...	ORPHA:506358
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Optic atrophy	OMIM:618727
Cat Eye Syndrome	Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Horseshoe kidney	OMIM:115470
Cohen Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:193
Jacobsen Syndrome	Epicanthus, Ectropion, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, Downslanted palpebral ...	ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia...	ORPHA:534
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Hypoplasia of the iris, Microphthalmia, Hydroneph...	ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Agenesis of cerebellar vermis, Hydrocephalus, Cerebellar hemisphere ...	OMIM:615287
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Roberts-Sc Phocomelia Syndrome	Micrognathia, Hydrocephalus, Eyelid coloboma, Shallow orbits, Downslanted palpebral fissures, Hyp...	OMIM:268300
Phace Association	Microphthalmia, Optic atrophy, Optic nerve hypoplasia	OMIM:606519
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia	OMIM:619879
Nmda Receptor Encephalitis	Short attention span, Confusion, Hypersexuality, Depression, Agitation, Memory impairment, Mania,...	ORPHA:217253
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal hypoplasia, Renal cyst	OMIM:616300
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Microphthalmia, Hydronephrosis	ORPHA:250989
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Neurogenic bladder, Urin...	ORPHA:191
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Optic atrophy, Retinal hemorrhage, Microphthalmia	OMIM:308300
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Niemann-Pick Disease, Type C2	Dementia, Abnormal repetitive mannerisms, Dysphagia	OMIM:607625
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Optic atrophy, Aplasia/Hypoplas...	ORPHA:564
Fanconi Anemia, Complementation Group C	Microphthalmia, Horseshoe kidney, Ectopic kidney	OMIM:227645
Trisomy 18	Microphthalmia, Abnormality of retinal pigmentation, Hydronephrosis	ORPHA:3380
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Pigmentary retinopathy, Chordee, Microphthalmia, Micropenis	OMIM:309801
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing	ORPHA:778
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms, Ventriculomegaly, Micrognathia	ORPHA:508533
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:2250
Jacobsen Syndrome	Microphthalmia, Optic atrophy, Macular hypoplasia, Hypospadias	OMIM:147791
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Aicardi Syndrome	Prominence of the premaxilla, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	ORPHA:50
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney	ORPHA:268249
Histiocytoid Cardiomyopathy	Microphthalmia, Renal cyst, Optic atrophy, Congenital aphakia	ORPHA:137675
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Horseshoe kidney, Microphthalmia, Micropenis, Pelvic kidney	OMIM:227646
Meckel Syndrome, Type 1	Dilated fourth ventricle, Natal tooth, Micrognathia, Hydrocephalus, Chiari malformation, Cerebell...	OMIM:249000
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos	OMIM:618874
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventriculomegaly, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:464311
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Epicanthus, Abnormal repetitive mannerisms	OMIM:301040
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema	OMIM:127000
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Anophthalmia, Horseshoe kidney, Microphthalmia, Crossed fused renal...	ORPHA:2538
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Cousin Syndrome	Microphthalmia, Hydronephrosis	OMIM:260660
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Epicanthus, Lacrimal duct stenosis, Highly arched eyebr...	OMIM:616268
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Optic atrophy, Retinal dys...	ORPHA:2526
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Optic atrophy, Microphthalmia	ORPHA:2162
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Palpebral edema, Aggressive behavior, Micrognathia, Long eyelashes, Cerebellar hyp...	OMIM:614756
Incontinentia Pigmenti	Retinal detachment, Microphthalmia, Retinal hemorrhage	ORPHA:464
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:251014
Ring Chromosome 7 Syndrome	Mandibular prognathia, Unilateral ptosis, Epicanthus, Highly arched eyebrow, Abnormal cerebellum ...	ORPHA:1449
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Frontorhiny	Microphthalmia	ORPHA:391474
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the iris, Pigmentary retinopathy, ...	OMIM:133540
Steinfeld Syndrome	Microphthalmia, Retinal coloboma	OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Microph...	OMIM:253280
Costello Syndrome	Epicanthus, Micrognathia, Wide anterior fontanel, Hydrocephalus, Chiari type I malformation, Down...	OMIM:218040
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia, Horseshoe kidney	ORPHA:1106
Hallermann-Streiff Syndrome	Microphthalmia, Optic disc coloboma	OMIM:234100
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy	OMIM:201180
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Hypospadias	OMIM:223370
Primrose Syndrome	Restlessness, Epicanthus, Aggressive behavior, Hypoplasia of the maxilla, Synophrys, Self-injurio...	OMIM:259050
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Polyphagia, Self-injurious behavior, Agenesis of corpus ...	ORPHA:1606
Holoprosencephaly 9	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Micrognathia, Abnormal repetitive mannerisms, Hydrocephalus, A...	OMIM:194190
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Phthisis ...	OMIM:300166
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Epispa...	ORPHA:2556
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Ventriculomegaly	ORPHA:464306
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Narrow palpebral fissure, Epicanthus, Abnormal repetitive mannerisms, Highly arched eyebrow	OMIM:618653
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypoplasia of penis, Hypospadias	ORPHA:2166
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Neu-Laxova Syndrome 1	Ablepharon, Micrognathia, Absent eyelashes, Choroid plexus cyst, Cerebellar hypoplasia, Pterygium...	OMIM:256520
Aicardi Syndrome	Retinal detachment, Microphthalmia, Optic disc coloboma, Optic atrophy	OMIM:304050
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Renal hypoplasia	OMIM:620005
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Downslanted pal...	OMIM:301044
22Q11.2 Deletion Syndrome	Hypospadias, Optic atrophy, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, ...	ORPHA:567
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Multicystic kidney dysplasia	ORPHA:1052
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Bartsocas-Papas Syndrome 1	Microphthalmia, Micropenis, Ectopic kidney	OMIM:263650
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal cyst, Microphthalmia, Hydronephrosis	OMIM:229850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney	OMIM:609945
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Oculodentodigital Dysplasia	Microphthalmia, Neurogenic bladder	OMIM:164200
Charge Syndrome	Anophthalmia, Optic atrophy, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis,...	ORPHA:138
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Micropenis, Hypospadias	OMIM:603457
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Micropenis	OMIM:617925
Monosomy 9P	Microphthalmia, Ureteropelvic junction obstruction, Hypospadias	ORPHA:261112
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Abnormal preputium morphology, Aplasia/Hypoplasia ...	ORPHA:84
Roberts Syndrome	Microphthalmia, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:861
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Epicanthus, Highly arched eyebrow, Micrognathia, Synophrys, Upslanted palp...	OMIM:612474
Degcags Syndrome	Hypospadias, Abnormal renal medulla morphology, Chronic kidney disease, Bilateral renal hypoplasi...	OMIM:619488
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Microphthalmia, Phthisis bulbi	OMIM:259770
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U...	ORPHA:2052
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Optic atrophy, Horseshoe kidney, Aniridia, Microphthalmia, Bi...	OMIM:305600
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Homocystinuria	OMIM:601552
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis	OMIM:309500
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Agenesis of cerebellar vermis, Cer...	ORPHA:2152
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Agenesis of cerebellar vermis, Cer...	ORPHA:261537
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Epicanthus, Telecanthus, Carious teeth, Narrow palpebral fissure, Downslanted palpebral fissures,...	OMIM:619522
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Opti...	ORPHA:649
Tetraamelia Syndrome 1	Microphthalmia, Urethral atresia	OMIM:273395
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Agenesis of cerebellar vermis, Cer...	ORPHA:261552
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Abnormal repetitive mannerisms, Ventriculomegaly, Aggressive behavior	OMIM:309000
Yunis-Varon Syndrome	Hypospadias, Bilateral microphthalmos, Renovascular hypertension, Renal artery stenosis, Micropht...	ORPHA:3472
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Remnants of the hyaloid vascular system	OMIM:619539
Charge Syndrome	Anophthalmia, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Retinal coloboma, Mi...	OMIM:214800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma	OMIM:620186
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos	ORPHA:93325
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis	OMIM:613884
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Micrognathia, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus ca...	ORPHA:93271
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Ectopic kidney, Renal hypo...	ORPHA:857
Mend Syndrome	Microphthalmia	ORPHA:401973
Fontaine Progeroid Syndrome	Microphthalmia, Micropenis	OMIM:612289
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Bilateral renal hypo...	ORPHA:508488
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Myhre Syndrome	Microphthalmia	OMIM:139210
Fraser Syndrome 1	Anophthalmia, Hypospadias, Bilateral microphthalmos, Renal hypoplasia, Micropenis	OMIM:219000
Holoprosencephaly 2	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:157170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal cyst, Retinal coloboma, Microphthalmia	OMIM:113620
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Hydrolethalus Syndrome 1	Microphthalmia, Hypospadias, Hydronephrosis	OMIM:236680
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Renal hypoplasia	OMIM:607932
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Microphthalmia, Micropenis	ORPHA:672
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Peripapillary atrophy, Retinal hemorrhage	OMIM:175780
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Hydroureter, Optic disc coloboma, Renal hypoplasia, Microphthalmia	OMIM:309800
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias	OMIM:235730
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Microphthalmia...	OMIM:164210
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms	OMIM:616682
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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 Bex3

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 Bex3.

No publications found that use IMPC mice or data for Bex3.

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

MGI Allele	Allele Type	Produced
Bex3^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Bex3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Bex3^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

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: Bex3 MGI:1338016

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Bex3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data