| 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 |
