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 |
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Hypoplasia of the iris, Microphthalmia, Peripapillary atrophy, Retinal hemorrhage |
OMIM:175780 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Hypospadias, Hydroureter, Optic disc coloboma, Renal hypoplasia, Microphthalmia |
OMIM:309800 |
Mowat-Wilson Syndrome |
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Microphthalmia, Hypospadias |
OMIM:235730 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Microphthalmia... |
OMIM:164210 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Abnormal repetitive mannerisms |
OMIM:616682 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |