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,  Yama,  mldy,  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
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
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
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cryptorchidism, Cataract, Hearing impairment, Chorioretinal coloboma OMIM:274205
Syngnathia
Cleft palate OMIM:119550
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment, Progressive cataract 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 upper lip, Encephalocele, Cleft palate OMIM:168500
Parietal Foramina 3
Encephalocele OMIM:609566
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... OMIM:600348
Cocaine Embryofetopathy
Encephalocele, Intestinal atresia ORPHA:1911
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Cataract OMIM:300719
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Partial agene... OMIM:604213
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Astigmatism, Iris hypopigmentation, Ca... ORPHA:231183
Spastic Paraparesis And Deafness
Hearing impairment, Cataract, Hypogonadism OMIM:312910
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Usher Syndrome Type 1
Sensorineural hearing impairment, Cerebral cortical atrophy, Vestibular hypofunction, Iris hypopi... ORPHA:231169
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Cataract OMIM:165300
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:615771
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Unilateral cleft lip, Encepha... ORPHA:63862
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Cerebellar hypoplasia, Optic atrophy, Dandy-Walker malfo... ORPHA:1538
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Parietal Foramina 2
Encephalocele OMIM:609597
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Hypergon... ORPHA:90646
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis ORPHA:2787
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Cryptorchidism, Hypoplasia of the antihelix, Cataract, Hearing imp... ORPHA:2489
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Oral cleft ORPHA:324416
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Meckel Syndrome, Type 8
Cleft upper lip, Encephalocele, Cleft palate OMIM:613885
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Pai Syndrome
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele ORPHA:1993
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Meckel Syndrome, Type 5
Cleft upper lip, Occipital encephalocele, Anencephaly, Cleft palate OMIM:611561
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Cleft palate, Non-midline cleft lip ORPHA:2117
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Encephalocele, Cleft lip, Broad philtrum ORPHA:398156
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation, Goiter OMIM:274600
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Conjunctival telangiectasia, Optic atrophy, Cochlear degeneration, Heari... ORPHA:95433
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Median cleft lip, Microglossia, Occipital encephalocele OMIM:241800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Optic atrophy, Occipital... ORPHA:352682
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Enlarged Parietal Foramina
Myelomeningocele, Cleft lip, Occipital encephalocele, Cleft palate ORPHA:60015
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Autosomal Recessive Spastic Paraplegia Type 69
Hearing impairment, Cerebral cortical atrophy, Cataract ORPHA:401830
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Cofs Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Camptodactyly of finger, Prominent metopic ... ORPHA:1466
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Oste... ORPHA:970
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Nathalie Syndrome
Hearing impairment, Cataract OMIM:255990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... OMIM:613153
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Congenital Hydrocephalus
Hydrocephalus, Bulbous nose, Abnormal cortical gyration, Optic atrophy, Lissencephaly, Ventriculo... ORPHA:2185
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Hypoplasia of the pons, Optic atrophy, Ventriculomegaly, Reti... OMIM:613154
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Bilateral cleft lip and palate, Anterior encephalocele, Holoprosencephaly OMIM:601357
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Iron accumulation in substantia nigra, Retinal pigment epithelial mott... OMIM:619389
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Meningocele, Encephalocele OMIM:603194
Martsolf Syndrome 2
Brain atrophy, Hypogonadotropic hypogonadism, Cataract, Developmental cataract, Macrotia OMIM:619420
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Optic... OMIM:618889
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Frontonasal Dysplasia 1
Median cleft palate, Cranium bifidum occultum, Median cleft lip, Widely-spaced maxillary central ... OMIM:136760
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Microphthalmia, Retinal dysplasia OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Cerebellar hypoplasia, R... OMIM:251270
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy ORPHA:1178
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy OMIM:616171
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Abnormal cerebellum morphology, Hydrocephalus, Optic nerve hypoplasia,... ORPHA:370959
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate OMIM:164180
Anencephaly 2
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral patter... OMIM:619302
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Craniotelencephalic Dysplasia
Frontal encephalocele, Arrhinencephaly OMIM:218670
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:607361
Meckel Syndrome, Type 4
Hydrocephalus, Cleft palate, Anencephaly, Meningocele, Encephalocele OMIM:611134
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hearing impairment, Cataract OMIM:608763
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebellar hypoplasia ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy, Cerebellar atrophy OMIM:610951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hyp... OMIM:615181
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Bifid uvula, Cleft palate OMIM:614175
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Chorioretinal coloboma OMIM:300864
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Non-... ORPHA:1908
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Subependymal Nodular Heterotopia
Myelomeningocele, Occipital encephalocele, Nasofrontal encephalocele, Meningocele ORPHA:101030
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Ethmoidal encephalocele OMIM:607597
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormal pons morphology, Cerebellar hypoplasia, Pigmentary retinopa... ORPHA:370968
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Encephalocele, Cleft palate OMIM:603671
Joubert Syndrome 16
Encephalocele OMIM:614465
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cerebral atrophy, Cataract, Developmental cataract, Cerebellar atrophy, Hearing impairment OMIM:614482
Alexander Disease
Hydrocephalus, Death in childhood, Death in adolescence, Increased CSF protein, Death in infancy OMIM:203450
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... OMIM:609637
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Joubert Syndrome 14
Hydrocephalus, Short philtrum, Tented upper lip vermilion, Open mouth, Encephalocele OMIM:614424
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Optic atrophy, Iris col... ORPHA:1473
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Frontal encephalocele ORPHA:521308
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Joubert Syndrome 22
Agenesis of cerebellar vermis, Coloboma, Microphthalmia, Molar tooth sign on MRI, Retinal dysplasia OMIM:615665
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Distal Monosomy 13Q
Anal atresia, Encephalocele, Anencephaly, Holoprosencephaly ORPHA:1590
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Optic atrophy, Prominent nose, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Warburg Micro Syndrome 1
Microphthalmia, Osteoporosis, Cerebellar hypoplasia, Optic atrophy, Enlarged sylvian cistern, Cer... OMIM:600118
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Retinal degeneration, Flexion contracture, Abnormally large globe, Cerebellar hypo... OMIM:615249
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism ORPHA:1875
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Adult onset sensorineural hearing impairment ORPHA:329314
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
External genital hypoplasia, Hearing impairment, Cataract, Cryptorchidism, Global brain atrophy OMIM:612947
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Anencephaly, Non-midline cleft lip, Spina bifida ORPHA:2476
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Hydrocephalus OMIM:619470
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Thrombocytopenia, Ventriculomegaly, Microphth... ORPHA:858
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Abnormality of the optic nerve ORPHA:85335
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Aganglionic megacolon OMIM:304100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge, Polymicrogyria ORPHA:83473
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebellar vermis atrophy, Cataract, Cerebral atrophy, Macrotia OMIM:616154
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Laurence-Moon Syndrome
Sensorineural hearing impairment, Hypoplasia of penis, Low-set, posteriorly rotated ears, Iris co... ORPHA:2377
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Triopia
Median cleft lip, Encephalocele, Cleft palate ORPHA:3374
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Hypoplasia of penis, Optic atrop... ORPHA:791
Frontorhiny
Basal encephalocele, Cleft palate, Bifid tongue, Cranium bifidum occultum, Encephalocele ORPHA:391474
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hydrocephalus, Flexion contracture OMIM:300884
Diprosopus
Anencephaly, Cleft palate, Non-midline cleft lip ORPHA:1681
Hyperreflexia
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Bruck Syndrome 2
Flexion contracture, Osteopenia, Wormian bones, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Cerebral cortical atrophy, Optic disc pallor, Cataract, Vaginal hernia ORPHA:3173
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioreti... OMIM:212550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Wormian bones, Multi... OMIM:259410
Kleeblattschaedel
Hydrocephalus OMIM:148800
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... OMIM:601596
Osteogenesis Imperfecta, Type Xii
Wormian bones, Generalized osteoporosis, Osteoporosis OMIM:613849
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Cataract, Decreased nerve conduction velocity OMIM:614932
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles OMIM:616863
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Cataract ORPHA:90654
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Cerebellar vermis hy... ORPHA:163961
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Joubert Syndrome 9
Encephalocele OMIM:612285
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Retinal detachment, Wormian bones, Osteoporosis, Joint l... ORPHA:2788
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Peroxisome Biogenesis Disorder 11B
Hearing abnormality, Hearing impairment, Cataract OMIM:614885
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Reduced bone mineral dens... ORPHA:891
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Broad philtrum, Conical tooth, Encephalocele ORPHA:228390
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Anal atresia, Gingival overgrowth, Short philtrum, Anencephaly, Delayed eruption of ... OMIM:619148
Lissencephaly 8
Retrocerebellar cyst, Cerebellar hypoplasia, Optic atrophy, Ventriculomegaly, Microphthalmia, Occ... OMIM:617255
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Prelingu... ORPHA:436174
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Frontofacionasal Dysplasia
Encephalocele, Cleft palate, Non-midline cleft lip ORPHA:1791
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Increased CSF protein, Retinal fold, Microphthalmia ORPHA:209956
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Cerebral atrophy, Optic disc pallor, Cataract, A... OMIM:619260
Pentalogy Of Cantrell
Hydrocephalus, Cleft palate, Anencephaly, Oral cleft, Non-midline cleft lip, Encephalocele ORPHA:1335
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Wormian bones, Thin bony cortex, Multiple pren... OMIM:619795
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Cataract, Decreased testicular ... ORPHA:3085
Peroxisome Biogenesis Disorder 8B
Sensorineural hearing impairment, Cerebellar vermis atrophy, Corpus callosum atrophy, Optic atrop... OMIM:614877
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Ethmoidal encephalocele ORPHA:280195
Achondroplasia
Limited hip extension, Hydrocephalus, Generalized joint laxity, Genu varum, Limited elbow extensi... OMIM:100800
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Low-set, posteriorly rotated ears ORPHA:1373
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Bruck Syndrome
Recurrent fractures, Joint stiffness, Wormian bones, Osteoporosis, Arthrogryposis multiplex conge... ORPHA:2771
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Zika Virus Disease
Absent foveal reflex, Abnormality of the cerebrospinal fluid, Retinal pigment epithelial mottling... ORPHA:448237
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Bulbous nose, Gray matter heterotopia, Communicating hydrocephalus, Optic atrophy, Lissencephaly,... OMIM:615219
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Retinal degeneration, Pigmentary retinopat... OMIM:275400
Coach Syndrome 2
Hydrocephalus, Coloboma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Chorioretinal col... OMIM:619111
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Ventriculomegaly OMIM:617613
Joubert Syndrome With Renal Defect
Hydrocephalus, Cleft palate, Oral cleft, Encephalocele, Aganglionic megacolon ORPHA:220497
Pendred Syndrome
Sensorineural hearing impairment, Goiter, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation, Death in infancy OMIM:249400
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Keratoconus, Cataract, Optic disc drusen OMIM:204000
Erythrokeratodermia Variabilis
Corneal opacity, Protruding ear, Cataract, Hearing impairment, Abnormal testis morphology ORPHA:317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Optic nerve dysplasia, Type II lissencephaly... OMIM:615287
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Occipital encephalocele OMIM:612284
Crouzon Syndrome
Hydrocephalus, Cerebellar hypoplasia, Optic atrophy, Multiple suture craniosynostosis, Iris colob... ORPHA:207
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Coloboma OMIM:274270
Pettigrew Syndrome
Hydrocephalus, Prominent nose, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Intestinal Dysmotility Syndrome
Low-set ears, Cataract OMIM:620045
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy, Olivopontocerebellar atrophy OMIM:164500
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge OMIM:600991
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Hearing impairment, Cataract ORPHA:67048
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Cryptorchidism OMIM:601794
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Convex nasal ridge, Death in childhood, Ventriculomegaly, CSF lymphocytic pleiocyt... OMIM:610333
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrophy ORPHA:3156
Acromelic Frontonasal Dysplasia
Wide mouth, Median cleft palate, Median cleft lip, Meningocele, Encephalocele ORPHA:1827
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Decreased calvarial ossification, Wormian bones, Bowing of limbs due to mult... OMIM:259440
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Limited elbow extension, Hyperostosis, Delayed closure of the anterior fontanelle,... OMIM:604922
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Cerebral atrophy, Abnormal sperm morphology, Corpus callosum atrophy, ... ORPHA:320391
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Subcapsular cataract, Decreased nerve conduction velocity, Opti... OMIM:612674
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Microphthalmia, Cryptorchidism, Buphthalmos, Optic nerve hypoplasia, Retinal detac... OMIM:236670
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Depressed nasal bridge, Dilated fourth ventricle, Wide nasal bridge, Patent ductus... OMIM:220220
Grant Syndrome
Joint dislocation, Wormian bones, Decreased skull ossification, Large fontanelles, Abnormal corti... ORPHA:2097
1Q21.1 Microduplication Syndrome
Hip dislocation, Hydrocephalus, Cryptorchidism, Arthrogryposis multiplex congenita ORPHA:250994
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Wide ... OMIM:618577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Pigmentary retinopathy, Cerebellar hypoplasia, Ventriculomegaly, Hip disloca... OMIM:613156
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Joubert Syndrome 7
Encephalocele OMIM:611560
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Abnormal cerebellum morphology, Increased ... ORPHA:255182
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Cataract, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cleft palate, Oral cleft, Encephalocele, Aganglionic megacolon ORPHA:220493
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Join... ORPHA:53
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1516
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Encephalocele... OMIM:608091
Chondrodysplasia Punctata 1, X-Linked Recessive
Hearing impairment, Cataract, Hypogonadism OMIM:302950
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellum, Numerous congenital me... ORPHA:2481
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma OMIM:616428
Iniencephaly
Myelomeningocele, Anal atresia, Narrow mouth, Hydrocephalus, Duodenal atresia, Holoprosencephaly,... ORPHA:63259
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Combined Oxidative Phosphorylation Deficiency 47
Sensorineural hearing impairment, Cryptorchidism, Cataract, Low-set, posteriorly rotated ears OMIM:618958
Coach Syndrome 1
Occipital encephalocele, Wide mouth, Encephalocele, Esophageal varix OMIM:216360
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Hydrocephalus, Narrow palate, Cleft palate, Encephaloc... OMIM:605627
Walker-Warburg Syndrome
Hydrocephalus, Microphthalmia, Abnormal cerebellar vermis morphology, Retinal detachment, Cerebel... ORPHA:899
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Cataract, Decreased ... OMIM:162400
Pierpont Syndrome
Joint laxity, Chiari malformation, Ventriculomegaly, Microphthalmia, Cryptorchidism ORPHA:487825
Srd5A3-Cdg
Abnormal cerebellum morphology, Spotty hyperpigmentation, Decreased response to growth hormone st... ORPHA:324737
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract OMIM:618195
X-Linked Intellectual Disability, Najm Type
Sensorineural hearing impairment, Cerebral cortical atrophy, Optic nerve hypoplasia, Optic atroph... ORPHA:163937
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal bone ossification, Increased bone mineral density, Retinal detac... ORPHA:163649
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Optic atrophy, Ventriculomegaly, Ret... ORPHA:272
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Protruding ear, Cerebral cortical atrophy, Optic atrophy, Cataract, Cerebellar atrophy, Macrotia OMIM:617481
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ocular albinism, Generalized hypopigmentation, Reduced bone mineral density, Hypoc... ORPHA:2720
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Congenital Rubella Syndrome
Abnormality of the fontanelles or cranial sutures, Abnormality of retinal pigmentation, Splenomeg... ORPHA:290
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Wagr Syndrome
Hearing abnormality, Ambiguous genitalia, Cataract, Displacement of the urethral meatus, Cryptorc... ORPHA:893
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Microphthalmia OMIM:616570
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Death in infancy, Communicating hydrocephalus OMIM:600559
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, Cerebral atrophy OMIM:619851
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Cataract OMIM:132450
Griscelli Syndrome
Pyloric stenosis, Hydrocephalus, Encephalocele ORPHA:381
Temtamy Syndrome
Genu varum, Iris coloboma, Microphthalmia, Joint hyperflexibility, Chorioretinal coloboma ORPHA:1777
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Vici Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmen... ORPHA:1493
Norrie Disease
Sensorineural hearing impairment, Protruding ear, Corneal opacity, Abnormal helix morphology, Abn... ORPHA:649
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Increased bone mineral density, Wormian bones, Osteoporosis, Joint hyperm... OMIM:614856
Duplication Of The Pituitary Gland
Wide mouth, Abnormality of the tongue, Supernumerary tooth, Cleft palate, Encephalocele, Volvulus ORPHA:314621
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:602501
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Joint contracture of the hand, Flexion contracture, Cerebellar hypoplasia, Osteop... OMIM:214150
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Decreased resp... ORPHA:1435
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Joubert Syndrome
Encephalocele, Hydrocephalus, Aganglionic megacolon, Oral cleft ORPHA:475
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Microphthalmia, Coloboma ORPHA:1617
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Ventriculomegaly ORPHA:2515
Neonatal Adrenoleukodystrophy
Sensorineural hearing impairment, EEG abnormality, Low-set, posteriorly rotated ears, Optic atrop... ORPHA:44
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Poorly ossified vertebrae, Cerebellar vermis hypoplasia, Microphthalmia, ... OMIM:619135
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Gombo Syndrome
Microphthalmia OMIM:233270
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Euthyroid goiter, Dilatated inte... OMIM:113650
Diencephalic Syndrome
Optic atrophy, Hydrocephalus ORPHA:1672
Sjögren-Larsson Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Generali... ORPHA:816
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Myopathy, Distal, 7, Adult-Onset, X-Linked
Hearing impairment, Cataract OMIM:301075
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Cleft palate, Encephalocele OMIM:224400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Hypoplasia of the pons, Spina bifida occulta, Bicoronal synostosis, Delay... OMIM:618736
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Cataract OMIM:614879
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Low-set, posteriorly rotated ears, Ambiguous genitalia, Cataract, Cryptorchi... ORPHA:2772
Mevalonic Aciduria
Cerebral cortical atrophy, Cataract, Low-set, posteriorly rotated ears ORPHA:29
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Natal tooth, Encephalocele OMIM:616300
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Coloboma ORPHA:141333
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge ORPHA:380
Warburg Micro Syndrome 2
Hypoplastic labia majora, Micropenis, Microcornea, Optic atrophy, Asymmetry of the ears, Cataract... OMIM:614225
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Cataract, Developmental cataract, Hearing impairment, Small scrotum OMIM:610756
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Constricting Bands, Congenital
Cleft upper lip, Encephalocele, Cleft palate OMIM:217100
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Hydrocephalus, Cleft palate, Encephalocele ORPHA:1865
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal bridge, Wide nasal base OMIM:616521
Juvenile Paget Disease
Recurrent fractures, Abnormality of retinal pigmentation, Osteoporosis, Optic atrophy, Melanocyti... ORPHA:2801
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Ankle clonus, Central retinal vessel vascular tortuosity, Hy... ORPHA:506353
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Radioulnar synostosis, Patent ductus arteriosus, Chiari malforma... ORPHA:171839
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Pigmentary retinopathy, Retinal dystrophy, Cerebellar ver... OMIM:608629
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Trisomy 13
Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal helix morphology, Abnor... ORPHA:3378
Pseudotrisomy 13 Syndrome
Cleft upper lip, Anal atresia, Hydrocephalus, Holoprosencephaly, Median cleft lip and palate, Enc... OMIM:264480
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis, Craniosynostosis ORPHA:1496
Otopalatodigital Syndrome Type 2
Myelomeningocele, Anodontia, Narrow mouth, Hydrocephalus, Cleft palate, Glossoptosis, Oligodontia... ORPHA:90652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hydrocephalus, Macroglossia, Cleft palate, Encephalocele OMIM:613150
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Joint hyperflexibility, Abnormality o... ORPHA:1390
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormality of the fontanelles or cranial sutures, Microphthalmia ORPHA:2432
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Edinburgh Malformation Syndrome
Hydrocephalus, Short nose, Anteverted nares, Choanal atresia, Abnormality of neuronal migration ORPHA:1895
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Vacterl/Vater Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Non-midline cleft lip, Occipi... ORPHA:887
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Sp... OMIM:259700
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:225790
Infantile Sialic Acid Storage Disease
Hydrocephalus, Fair hair, Vacuolated lymphocytes, Splenomegaly, Hypopigmentation of the skin, Ost... OMIM:269920
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Micro Syndrome
Joint stiffness, Abnormal cerebellum morphology, Abnormality of retinal pigmentation, Retinal col... ORPHA:2510
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hydrocephalus, Flexion contracture, Increased laxity of ankles ORPHA:99947
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Cohen Syndrome
Neutropenia, Decreased response to growth hormone stimulation test, Leukopenia, Cerebellar hypopl... OMIM:216550
Temple Syndrome
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide nose OMIM:616222
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Cerebellar hypoplasia, Retrocerebellar cyst OMIM:614219
Joubert Syndrome 30
Superior cerebellar dysplasia, Retinal dystrophy, Ventriculomegaly, Cerebellar atrophy, Molar too... OMIM:617622
Autosomal Recessive Spastic Paraplegia Type 15
Abnormal cerebellum morphology, Yellow/white lesions of the retina, Pigmentary retinopathy, Retin... ORPHA:100996
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... OMIM:305390
Bresek Syndrome
Hydrocephalus, Optic nerve hypoplasia, Neonatal death, Iris coloboma, Decreased testicular size, ... ORPHA:85284
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Patent ductus arteriosus, Communicating hydrocephalus ORPHA:2184
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Macular atrophy OMIM:267760
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Buphthalmos, Abnormal brainstem morphology, Retinal dystrophy, Cerebell... ORPHA:370997
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Camptodactyly of finger, Cerebellar hypoplasia, Steep acetabular roof, Wr... OMIM:610758
Fanconi Anemia, Complementation Group I
Neutropenia, Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Fused... OMIM:609053
Ramon Syndrome
Osteolysis, Abnormality of retinal pigmentation ORPHA:3019
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Joubert Syndrome 28
Optic disc pallor, Joint laxity, Pigmentary retinopathy, Molar tooth sign on MRI OMIM:617121
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment, Cataract, Astigmatism ORPHA:250984
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Short nose, Aganglionic megacolon, Wide nasal bridge OMIM:613603
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypo... OMIM:614222
Metatropic Dysplasia
Joint stiffness, Hydrocephalus, Coarse metaphyseal trabecularization, Camptodactyly of finger, Ab... ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Hydrocephalus, Optic nerve hypoplasia, Retinal detachmen... OMIM:614643
Holoprosencephaly-Postaxial Polydactyly Syndrome
Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Holoprosencephaly, Intestinal malrotatio... ORPHA:2166
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Craniosynostosis, Camptodactyly of toe, Delayed cra... OMIM:175700
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Hydrocephalus, Short nose, Prominent nasal bridge OMIM:300558
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Depressed nasal bridge, Optic atrophy, Short nose, Choanal atres... ORPHA:1914
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy, Cerebellar vermis hypoplasia, Microcytic anemia, Abnormality of skin pig... OMIM:612379
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... OMIM:207950
Microphthalmia With Brain And Digit Anomalies
Sensorineural hearing impairment, Microcornea, Iris coloboma, Cataract, Cryptorchidism, Sclerocor... ORPHA:139471
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Delayed cranial suture closure, Elbow dislocation, Large fontanelles ORPHA:2249
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Wide anterior fontanel, Decreased calvarial ossification, Wormian bones, Pro... OMIM:259420
Infantile Refsum Disease
Sensorineural hearing impairment, Facial palsy, Optic atrophy, Cataract, Hearing impairment ORPHA:772
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:2318
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Cleft palate, Bifid uvula, Unilateral cleft lip, Cleft soft palate ORPHA:2736
Glutathione Synthetase Deficiency
Hemolytic anemia, Pigmentary retinopathy, Neutropenia OMIM:266130
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Cat-Eye Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:195
Curry-Jones Syndrome
Craniosynostosis, Coloboma, Ventriculomegaly, Microphthalmia, Chiari type I malformation OMIM:601707
Borjeson-Forssman-Lehmann Syndrome
Large earlobe, Hypoplasia of penis, Cryptorchidism, Cataract, Decreased testicular size, Hypogona... ORPHA:127
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Reduced bone mineral density, Ventriculomegaly, Acute leukemia, Limitat... ORPHA:2770
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... ORPHA:137902
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Retinal degeneration, Pigmentary retinopathy, Optic disc p... ORPHA:79264
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Atrophy/Degenerat... ORPHA:98755
Kapur-Toriello Syndrome
Conductive hearing impairment, Cryptorchidism, Micropenis, Retinal coloboma, Iris coloboma, Catar... OMIM:244300
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Wormian bones, Thin bony cortex, Joint laxity, Joint hypermobility, Generali... OMIM:617952
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Retinal degeneration, Splenomegaly, Cerebellar vermis hypoplasia, Genu valgum, Ven... OMIM:615630
Warsaw Breakage Syndrome
Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma OMIM:613398
Joubert Syndrome 37
Joint hypermobility, Prominent metopic ridge, Cerebellar vermis hypoplasia, Decreased testicular ... OMIM:619185
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Spondylo-Ocular Syndrome
Retinal detachment, Osteoporosis, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Micropht... ORPHA:85194
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Usher Syndrome Type 2
Sensorineural hearing impairment, Cerebral cortical atrophy, Iris hypopigmentation, Cataract, Sub... ORPHA:231178
Proteus-Like Syndrome
Hydrocephalus, Irregular hyperpigmentation, Genu recurvatum, Splenomegaly, Retinal detachment, Ab... ORPHA:2969
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Hip dislocation, Delayed cranial suture closure, Wormian bones OMIM:616603
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Retinal degeneration, Dilate... OMIM:610688
47,Xyy Syndrome
Hydrocephalus, Congenital stationary night blindness, Cryptorchidism, Dysgenesis of the cerebella... ORPHA:8
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Sturge-Weber Syndrome
Hydrocephalus, Abnormal retinal vascular morphology, Retinal detachment, Abnormal choroid morphol... ORPHA:3205
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Frontonasal Dysplasia 2
Widely spaced teeth, Broad philtrum, Conical tooth, Encephalocele OMIM:613451
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Low-set ears, Cerebral cortical atrophy, Cataract OMIM:619527
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Microphthalmia, Osteoporosis, Ventriculomegaly ORPHA:48431
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Prominent nose, Anteverted nares, Wide nasal... ORPHA:2180
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Hydrocephalus, Prominent nose, Wide nasal bridge OMIM:249630
Mulibrey Nanism
Thickened cortex of long bones, Pigmentary retinopathy, Iris coloboma, Ventriculomegaly OMIM:253250
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Cataract, ... ORPHA:280679
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Adams-Oliver Syndrome
Hydrocephalus, Esophageal varix, Encephalocele ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Flexion contracture, Encephalocele, Holoprosencephaly, Retinal detachment, Cerebel... OMIM:253800
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Osteopetrosis, Cerebellar hypoplasia, Optic atrophy, Ventriculomegaly OMIM:618476
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Chromosome 17P13.1 Deletion Syndrome
Anteverted nares, Hydrocephalus, Prominent nasal bridge OMIM:613776
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Large posterior fontanelle, Delayed proximal femoral epiphyseal o... ORPHA:95717
Premature Aging Syndrome, Penttinen Type
Osteolytic defects of the phalanges of the hand, Osteopenia, Delayed cranial suture closure, Worm... OMIM:601812
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Osteoporosis, Wormian bones, Arthritis, Osteolytic defects of the phalanges of the ha... OMIM:259100