Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
caspase 3
Synonyms:
CPP32,  AC-3,  CC3,  Apopain,  Caspase-3,  mldy,  Yama,  A830040C14Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Casp3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Casp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Hearing impairment, Chorioretinal coloboma, Abnormal antihelix morphology, Cryptorchidism OMIM:274205
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Absent brainstem auditory responses, Prelingual sensorineural heari... OMIM:616515
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Parietal Foramina 1
Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Parietal Foramina 3
Encephalocele OMIM:609566
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa... ORPHA:231183
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Cerebral cortical atrophy, Vestibular hypofunction, Sensorineura... ORPHA:231169
Cocaine Embryofetopathy
Intestinal atresia, Encephalocele ORPHA:1911
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto... OMIM:604213
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Hearing impairment OMIM:312910
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615938
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Cataract OMIM:165300
Nathalie Syndrome
Cataract, Sensorineural hearing impairment ORPHA:2663
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... ORPHA:63862
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malfo... ORPHA:1538
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615937
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract, Sensorineural hearing impairment ORPHA:2815
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Parietal Foramina 2
Encephalocele OMIM:609597
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Hydrocephalus OMIM:209970
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft l... OMIM:601357
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Joint hypermobility ORPHA:2787
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Hydrocephalus ORPHA:324416
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Hypoplasia of the antihelix, Hearing impairment, Chorioretinal coloboma, Abnormal antih... ORPHA:2489
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:2117
Meckel Syndrome, Type 5
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly OMIM:611561
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Pai Syndrome
Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Cleft palate ORPHA:1993
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract, Sensorineural hearing impairment OMIM:613076
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Broad philtrum, Cleft palate ORPHA:398156
Meckel Syndrome, Type 8
Cleft upper lip, Occipital encephalocele, Encephalocele, Cleft palate OMIM:613885
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus OMIM:618709
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Conjunctival telangiectasia, Spinocereb... ORPHA:95433
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Encephalocele OMIM:200130
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hearing impairment, Cerebral cortical atrophy ORPHA:401830
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matt... ORPHA:352682
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ... ORPHA:970
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Cofs Syndrome
Optic atrophy, Camptodactyly of finger, Joint stiffness, Abnormality of retinal pigmentation, Apl... ORPHA:1466
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Enlarged Parietal Foramina
Myelomeningocele, Cleft lip, Occipital encephalocele, Cleft palate ORPHA:60015
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cere... OMIM:613153
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Bulbous nose, Colpocephaly, Hydrocep... ORPHA:2185
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Meningocele, Anencephaly, Cleft palate OMIM:603194
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Optic disc pa... OMIM:619389
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypop... OMIM:613155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus call... OMIM:619302
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... OMIM:609637
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Retinopathy, Cerebellar hypoplasia, Ma... OMIM:616171
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Median cleft palate, Median cleft upper l... OMIM:136760
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Hypoplasia o... ORPHA:370959
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy ORPHA:1178
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Hydrocephalus, Death in infancy, Agenesis of corpus callosum OMIM:619301
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Cleft upper lip, Ethmoidal encephalocele, Cleft palate OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Retinal dysplasia OMIM:614830
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Craniotelencephalic Dysplasia
Optic atrophy, Cerebellar hypoplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia, Crani... ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Microphthalm... OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Cerebellar hypoplasia, Retinal detachment, Abn... OMIM:251270
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Median cleft upper lip, Hydrocephalus, Cleft palate OMIM:241800
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate OMIM:164180
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Bone ... OMIM:618889
Joubert Syndrome 18
Occipital encephalocele, Cleft palate, Lobulated tongue OMIM:614815
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:615181
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate OMIM:611134
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Cleft palate OMIM:607361
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Retinopathy OMIM:610951
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Non... ORPHA:1908
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Unilateral Ocular Duplication
Median cleft upper lip, Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Joint hypermobility, Limited pronation/supination o... OMIM:610967
Joubert Syndrome 16
Encephalocele OMIM:614465
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Hearing impairment, Chorioretinal coloboma OMIM:120433
Craniotelencephalic Dysplasia
Frontal encephalocele OMIM:218670
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Ventriculomegaly, Multiple joint contractur... ORPHA:370968
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Ventriculomegaly, Arthrogryposis multiplex congenita, Microphthalmia OMIM:616570
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Meckel Syndrome, Type 10
Bifid uvula, Occipital encephalocele, Cleft palate, Anencephaly OMIM:614175
Joubert Syndrome 22
Retinal dysplasia, Coloboma, Molar tooth sign on MRI, Microphthalmia, Agenesis of cerebellar vermis OMIM:615665
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Sensorineural hearing impairment, Posterior embr... ORPHA:1473
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hydrocephalus, Simplified gyral pattern OMIM:619470
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Adult onset sensorineural hearing impairment ORPHA:329314
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Optic atrophy, Enlarged sylvian cistern, Cryptorchidism, Joint hype... OMIM:600118
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Polymicrogyria ORPHA:83473
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Retinal degeneration, Cerebellar hypoplasia,... OMIM:615249
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Congenital Toxoplasmosis
Ventriculomegaly, Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus, Thrombocyto... ORPHA:858
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Abnormal optic nerve morphology ORPHA:85335
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Flexion contracture, Hydrocephalus OMIM:300884
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract, Brain atrophy, Macrotia OMIM:619420
Alexander Disease
Increased CSF protein concentration, Death in childhood, Death in infancy, Death in adolescence, ... OMIM:203450
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Cataract, Cerebellar vermis atrophy, Macrotia OMIM:616154
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Laurence-Moon Syndrome
Cataract, Low-set, posteriorly rotated ears, Cryptorchidism, Displacement of the urethral meatus,... ORPHA:2377
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Wormian bones, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Frontorhiny
Cranium bifidum occultum, Encephalocele, Basal encephalocele, Bifid tongue, Cleft palate ORPHA:391474
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Distal Deletion 13Q
Anal atresia, Holoprosencephaly, Anencephaly, Encephalocele ORPHA:1590
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked... OMIM:617523
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to fractures, Knee fle... OMIM:609220
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineura... OMIM:619260
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure OMIM:616863
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Frontal encephalocele ORPHA:521308
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Cataract, Sensorineural hearing impairment OMIM:614932
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Joubert Syndrome 9
Encephalocele OMIM:612285
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased ... OMIM:259410
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Joubert Syndrome 14
Tented upper lip vermilion, Open mouth, Encephalocele, Hydrocephalus, Meningocele, Short philtrum... OMIM:614424
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Posteriorly rotated ears, Macrotia OMIM:618392
Infantile Spasms-Broad Thumbs Syndrome
Cerebral cortical atrophy, Cataract, EEG abnormality, Vaginal hernia, Optic disc pallor ORPHA:3173
Stickler Syndrome Type 2
Cataract, Corneal opacity, Sensorineural hearing impairment ORPHA:90654
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Increased susceptibility to fractures, Joint hypermobili... ORPHA:2788
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Kleeblattschaedel
Hydrocephalus OMIM:148800
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Broad philtrum, Encephalocele ORPHA:228390
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Lissencephaly 8
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar... OMIM:617255
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Pentalogy Of Cantrell
Encephalocele, Orofacial cleft, Hydrocephalus, Anencephaly, Non-midline cleft of the upper lip, C... ORPHA:1335
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Senso... OMIM:109120
Bruck Syndrome
Pterygium, Joint stiffness, Wormian bones, Osteoporosis, Arthrogryposis multiplex congenita, Recu... ORPHA:2771
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Anteriorly placed anus ORPHA:280195
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Gingival overgrowth, Open mouth, Ir... OMIM:619148
Idiopathic Uveal Effusion Syndrome
Increased CSF protein concentration, Subretinal fluid, Exudative retinal detachment, Microphthalm... ORPHA:209956
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairme... ORPHA:436174
Osteogenesis Imperfecta, Type Xxii
Wormian bones, Thin bony cortex, Multiple prenatal fractures, Reduced bone mineral density, Recur... OMIM:619795
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Low-set, posteriorly rotated ears, Cataract ORPHA:1373
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairm... OMIM:620469
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Cerebellar atrophy, Decreased testicular size, Cryptorchidism, Polycystic ovaries, Sens... ORPHA:3085
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Cataract, Sensorineural hearing impairment OMIM:204000
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundu... OMIM:204100
Acromelic Frontonasal Dysplasia
Median cleft palate, Encephalocele, Median cleft upper lip, Meningocele, Wide mouth ORPHA:1827
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:304100
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Hydrocephalus, Molar tooth sign o... OMIM:619111
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Orofacial cleft, Hydrocephalus, Cleft palate ORPHA:220497
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Death in childhood, CSF lymphocytic pleiocytosis, Hydrocephalus, Convex nasal r... OMIM:610333
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Cerebellar hypoplasia, Optic atrophy, Hydrocephalus, Hypoplasia of the brainstem OMIM:618174
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqued... ORPHA:705
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Pigmentary retinopathy OMIM:617613
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Chorioretinal coloboma, Abnormal brainstem morpho... ORPHA:163961
Zika Virus Disease
Ankle swelling, Retinal pigment epithelial mottling, Optic disc hypoplasia, Wrist swelling, Chori... ORPHA:448237
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Crouzon Syndrome
Optic atrophy, Chiari malformation, Hypopigmented skin patches, Multiple suture craniosynostosis,... ORPHA:207
Erythrokeratodermia Variabilis
Cataract, Hearing impairment, Protruding ear, Abnormal testis morphology, Corneal opacity ORPHA:317
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Stickler Syndrome, Type V
Cataract, Sensorineural hearing impairment OMIM:614284
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Cerebellar atrophy, Decreased nerve conduction velocity, Subcapsular cat... OMIM:612674
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian bones, Multi... OMIM:259440
Peroxisome Biogenesis Disorder 11B
Cataract, Hearing impairment OMIM:614885
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Hydrocephalus... OMIM:618577
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Decreased response to growth hormone stimulation t... OMIM:275400
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Microphthalmia OMIM:274270
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Constricting Bands, Congenital
Tessier cleft, Cleft palate, Encephalocele, Cleft upper lip OMIM:217100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Cryptorchidism, Neonatal death, Cerebellar hypoplasia, Microphthalmia, Optic di... OMIM:613730
Intestinal Dysmotility Syndrome
Low-set ears, Cataract OMIM:620045
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
1Q21.1 Microduplication Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita, Hip dislocation, Cryptorchidism ORPHA:250994
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Microphthalmia OMIM:601794
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy ORPHA:26
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Hearing impairment ORPHA:67048
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Joubert Syndrome 7
Encephalocele OMIM:611560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Ventriculomegaly, Cryptorchidism, Cerebella... OMIM:613156
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, De... ORPHA:320391
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Olivopontocerebellar atrophy OMIM:164500
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Chorioretinal coloboma, Op... OMIM:608091
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Ventriculomegaly, Congenital contracture, Occipital encephalocele, Hypoplasia of t... OMIM:236670
Grant Syndrome
Joint dislocation, Large fontanelles, Abnormal cortical bone morphology, Joint hypermobility, Dec... ORPHA:2097
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Combined Oxidative Phosphorylation Deficiency 47
Low-set ears, Cataract, Cryptorchidism, Sensorineural hearing impairment, Posteriorly rotated ears OMIM:618958
Melanosis, Neurocutaneous
Choroid plexus papilloma, Dandy-Walker malformation, Hydrocephalus, Death in infancy OMIM:249400
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Senior-Loken Syndrome
Abnormality of bone mineral density, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Orofacial cleft, Hydrocephalus, Cleft palate ORPHA:220493
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Dilated third ventricle, Ventriculomegaly, Hypoplasia of t... OMIM:613154
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Cerebral cortical atrophy, Chorioretinal coloboma, Sensorineural hearing... ORPHA:163937
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Occipital encephalocele, Neonatal death OMIM:224410
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Cataract, Hearing impairment, Hypsarrhythmia, Macrotia OMIM:619877
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ventriculomegaly, Increased CSF lactate, Abnormal brainstem morphology, Abnormal CSF pyruvate fam... ORPHA:255182
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Iniencephaly
Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, Orofacial cleft, Hydrocephalus,... ORPHA:63259
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Patent ductus arteriosus, Hydrocephalus, Underdeveloped nasal alae ORPHA:1516
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Coach Syndrome 1
Encephalocele, Wide mouth, Occipital encephalocele, Esophageal varix OMIM:216360
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Encephalocele, Solitary median maxilla... OMIM:605627
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Hypopigmentation of the fundus, Delayed patellar ossification, Retinal detachment, Abnormality of... ORPHA:163649
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Depressed nasal bridge, Dilated fourth ventricle, Hydrocephalus, Patent ductus... OMIM:220220
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Abnormal ... ORPHA:53
Neurocutaneous Melanocytosis
Ventriculomegaly, Chiari malformation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyp... ORPHA:2481
Walker-Warburg Syndrome
Optic atrophy, Ventriculomegaly, Abnormal optic nerve morphology, Microphthalmia, Cryptorchidism,... ORPHA:899
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Increased CSF lactate, Death in childhood, Death in infancy, Inc... OMIM:616034
Srd5A3-Cdg
Optic atrophy, Cerebellar atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Microcytic an... ORPHA:324737
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Encephalocele, Incomplete cleft of the upper lip, St... OMIM:616300
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele, Cleft palate OMIM:224400
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity,... OMIM:162400
Pierpont Syndrome
Ventriculomegaly, Chiari malformation, Cryptorchidism, Joint hypermobility, Microphthalmia ORPHA:487825
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract, Hearing impairment OMIM:301075
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Retinal dysplasia, Flexi... ORPHA:272
Temtamy Syndrome
Chorioretinal coloboma, Joint hypermobility, Microphthalmia, Iris coloboma, Genu varum ORPHA:1777
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Griscelli Syndrome
Hydrocephalus, Encephalocele, Pyloric stenosis ORPHA:381
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cataract, Cerebral cortical atrophy, Cerebellar atrophy, Protruding ear, Macrotia OMIM:617481
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Encephalocele, Median cleft upper lip, Hydrocephalus, Anal ... OMIM:264480
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cataract, Ectopia lentis, Uterine rupture, Cerebral cor... ORPHA:649
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Oste... OMIM:259710
Wagr Syndrome
Cataract, Hearing abnormality, Cryptorchidism, Aplasia/Hypoplasia of the iris, Displacement of th... ORPHA:893
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Wormian bones, Reduced bone miner... OMIM:112240
Neonatal Adrenoleukodystrophy
Optic atrophy, Cataract, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, EEG... ORPHA:44
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Prune1-Related Neurological Syndrome
Low-set ears, Optic atrophy, Cataract, Cerebellar atrophy, Cerebral atrophy, EEG abnormality ORPHA:544469
Full Schwannomatosis
Cataract, Hearing impairment, Tinnitus, Neoplasm of the anterior pituitary, Uterine leiomyoma ORPHA:93921
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Hydroce... OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Hydrocephalus, Wide nasal bridge OMIM:616521
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Joubert Syndrome
Hydrocephalus, Aganglionic megacolon, Orofacial cleft, Encephalocele ORPHA:475
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Ventriculomegaly, Cerebellar atrophy, Elbow flexion contracture, C... OMIM:214150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Narrow mouth, Encephalocele, Cleft palate ORPHA:1865
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Hypoplasia of the pons, Lateral ventricle dilatation, Bicoronal syno... OMIM:618736
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Abnormal brainstem morpho... ORPHA:2720
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Conductive hearing impairment OMIM:132450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:602501
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I... OMIM:113650
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of... ORPHA:290
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Cataract, Hearing impairment OMIM:302950
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Epiphyseal stippling, Cryptorchidism, Poorl... OMIM:619135
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Abnormality of retinal pigmentation ORPHA:2515
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Pigmentary retinopathy, Cryptorchidism, Re... ORPHA:3363
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Gombo Syndrome
Microphthalmia OMIM:233270
Diencephalic Syndrome
Optic atrophy, Hydrocephalus ORPHA:1672
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma, Camptodactyly of finger ORPHA:1617
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Vici Syndrome
Optic atrophy, Decreased circulating IgG level, Hypopigmentation of the skin, Hypoplasia of the p... ORPHA:1493
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Cataract, Cerebral cortical atrophy ORPHA:29
Sjögren-Larsson Syndrome
Macular degeneration, Joint stiffness, Generalized hyperpigmentation, Abnormality of retinal pigm... ORPHA:816
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Microphthalmia ORPHA:141333
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Cataract OMIM:616108
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral v... OMIM:608629
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hydrocephalus OMIM:618302
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Encephalocele, Hydrocephalus, Macroglossia, Cleft palate OMIM:613150
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Warburg Micro Syndrome 2
Optic atrophy, Small scrotum, Cataract, Microcornea, Global brain atrophy, Undetectable visual ev... OMIM:614225
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, ... OMIM:614643
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Low-set, posteriorly rotated ears, Cryptorchidism, Ambiguous genitalia, Hypoplasia of p... ORPHA:2772
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Aqueductal stenosis, Abnormality of retinal pigmentation ORPHA:1496
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Chiari malformation, Large fontanelles, Cryptorchidism, Radioulnar synostosis, Hydrocephalus, Cra... ORPHA:171839
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Optic atrophy, Depressed nasal bridge, Myelomeningocele, Anteverted nares, Hydro... ORPHA:1914
Otopalatodigital Syndrome Type 2
Myelomeningocele, Narrow mouth, Encephalocele, Oligodontia, Anodontia, Hydrocephalus, Glossoptosi... ORPHA:90652
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormality of the fontanelles or cranial sutures, Microphthalmia ORPHA:2432
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Duplication Of The Pituitary Gland
Volvulus, Encephalocele, Supernumerary tooth, Wide mouth, Cleft palate ORPHA:314621
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Communicating hydrocephalus, Patent ductus arteriosus, Wide nose ORPHA:2184
Infantile Sialic Acid Storage Disease
Osteopenia, Hypopigmentation of the skin, Fair hair, Splenomegaly, Hydrocephalus, Vacuolated lymp... OMIM:269920
Juvenile Paget Disease
Optic atrophy, Coarse metaphyseal trabecularization, Cranial hyperostosis, Melanocytic nevus, Abn... ORPHA:2801
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Vacterl/Vater Association
Occipital encephalocele, Tracheoesophageal fistula, Anal atresia, Anencephaly, Non-midline cleft ... ORPHA:887
Microphthalmia, Syndromic 13
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Trisomy 13
Low-set ears, Optic atrophy, Abnormal helix morphology, Cataract, Abnormal morphology of female i... ORPHA:3378
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Cataract, Hearing impairment, Developmental cataract, Micropenis OMIM:610756
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Os... OMIM:259700
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Hydroceph... ORPHA:2166
Edinburgh Malformation Syndrome
Choanal atresia, Anteverted nares, Abnormality of neuronal migration, Hydrocephalus, Short nose ORPHA:1895
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Flexion contracture, Hydrocephalus, Increased laxity of ankles ORPHA:99947
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Wormian bones, Osteoporosis, Generalized osteoporosis, R... OMIM:613849
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Brain atrophy, Crypt... OMIM:620327
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Retinal detachment, Hydrocephalus, Retinal te... OMIM:620157
Frontonasal Dysplasia 2
Conical tooth, Widely spaced teeth, Tessier number 13 facial cleft, Encephalocele, Broad philtrum OMIM:613451
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Foveal Hypoplasia 2
Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia OMIM:609218
Micro Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Retinal coloboma, Joint stiffness, Abnormal cerebell... ORPHA:2510
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Abnormal pons morp... ORPHA:370997
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Cerebral cortical atrophy, Sensorineural hearing impairment, Abn... ORPHA:231178
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Ventriculomegaly, Delayed cranial suture closure, Cryptorchidism, ... OMIM:175700
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Patellar subluxation, Hydrocephalus OMIM:248000
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Sensorineural hearing impairment ORPHA:250984
Pontocerebellar Hypoplasia, Type 16
Low-set ears, Optic atrophy, Cerebral cortical atrophy, Cataract OMIM:619527
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Neonatal death, Hydrocephalus, Microphthalmia, Iris co... ORPHA:85284
Leukodystrophy, Hypomyelinating, 24
Cataract, Decreased motor nerve conduction velocity, Cerebral atrophy OMIM:619851
Craniosynostosis 6
Cerebellar atrophy, Right unilambdoid synostosis, Lateral ventricle dilatation, Delayed cranial s... OMIM:616602
Microphthalmia, Isolated 4
Absent testis, Coloboma, Microphthalmia OMIM:613094
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Abnormal cerebellum morphology, Retin... ORPHA:100996
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Bowing of limbs due to multiple fractures, Decreased calvarial ossificati... OMIM:259420
Adams-Oliver Syndrome 2
Depressed nasal bridge, Optic atrophy, Lateral ventricle dilatation, Polymicrogyria, Bulbous nose... OMIM:614219
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Chiari malformation, Decreased response to g... OMIM:609053
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Infantile Refsum Disease
Optic atrophy, Cataract, Hearing impairment, Sensorineural hearing impairment, Facial palsy ORPHA:772
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Sensorineural hearing impairment, ... ORPHA:139471
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Optic atrophy, Microcytic anemia, Coloboma, Abnormality of skin pig... OMIM:612379
Kearns-Sayre Syndrome
Anterior hypopituitarism, Abnormality of retinal pigmentation ORPHA:480
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Molar tooth sign on MRI, Joint hypermobility OMIM:617121
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Camptodactyly of finger, Elbow flexion contracture, Steep acetabular ro... OMIM:610758
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplas... OMIM:253800
Craniosynostosis 2
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Metopic synostosis, Craniosynostosis OMIM:604757
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:2318
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Ramon Syndrome
Abnormality of retinal pigmentation, Osteolysis ORPHA:3019
Nasu-Hakola Disease
Acute leukemia, Ventriculomegaly, Limitation of joint mobility, Bone cyst, Hydrocephalus, Reduced... ORPHA:2770
Cohen Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Leukopenia, Bull's eye macu... OMIM:216550
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Focal T2 hyperintense thalamic lesion, Retinal degene... ORPHA:79264
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Pigmentary retinopathy OMIM:618234
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Large fontanelles, Elbow dislocation, Delayed cranial suture closure ORPHA:2249
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventriculomegaly, Genu valgum, Splenomegaly, Retinal degeneration, ... OMIM:615630
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Cataract, Hearing impairment, Large earlobe, Decreased testicular size, Hypogonadi... ORPHA:127
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso... ORPHA:529808
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose OMIM:300558
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso... ORPHA:529799
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Decreased testicular size, Cryptorchidism, Joint hypermobility, Mol... OMIM:619185
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal thalamus morphology, Hypoplasia of the p... ORPHA:467166
Proteus-Like Syndrome
Genu recurvatum, Irregular hyperpigmentation, Thymus hyperplasia, Abnormality of the parathyroid ... ORPHA:2969
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Retinal dystrophy, Superior cerebe... OMIM:617622
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Radial dysplasia, Chiari type I malformation, Hydrocephalus, Microph... OMIM:617244
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Lateral ventricle dilatation, Cerebellar atrophy, Hypoplasia of th... ORPHA:300573
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Chorioretinal coloboma, Hypoplasi... OMIM:610688
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Cupped ear, Hearing impairment, Optic disc coloboma OMIM:613398
Joubert Syndrome 15
Retinopathy, Exencephaly, Coloboma, Molar tooth sign on MRI, Retinal dystrophy OMIM:614464
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Kapur-Toriello Syndrome
Low-set ears, Cataract, Conductive hearing impairment, Retinal coloboma, Cryptorchidism, Hypoplas... OMIM:244300
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Sturge-Weber Syndrome
Optic atrophy, Chiari malformation, Hyperostosis, Abnormal choroid morphology, Heterochromia irid... ORPHA:3205
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Finger joint contracture, Microphthalmia, Osteoporosis, Flexion contracture of toe ORPHA:48431
Spondylo-Ocular Syndrome
Iris hypopigmentation, Joint hypermobility, Retinal detach