Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
Familial Drusen |
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Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
Exudative Vitreoretinopathy 3 |
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Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... |
ORPHA:2502 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... |
ORPHA:93356 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
Léri-Weill Dyschondrosteosis |
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Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
Weismann-Netter Syndrome |
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Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of... |
OMIM:250220 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... |
OMIM:608940 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Developmental And Epileptic Encephalopathy 68 |
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Failure to thrive, Flexion contracture, Exaggerated startle response |
OMIM:618201 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic atrophy, Exaggerated startle response, Flexion contracture, Optic disc pallor |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Multiple joint contractures, Exaggerated startle response, Optic disc pallor |
ORPHA:320406 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short finger, Hip subluxation, Flared metaphysis, Epiphyseal stippling, Triangular shaped distal ... |
OMIM:271665 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond... |
ORPHA:93317 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip contr... |
OMIM:617301 |
Hyperekplexia 1 |
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Inguinal hernia, Umbilical hernia, Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Leukodystrophy, Hypomyelinating, 13 |
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Optic atrophy, Failure to thrive, Joint contracture, Exaggerated startle response |
OMIM:616881 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Abnormal metaphysis morphology, Inguinal hernia, Long fibula |
ORPHA:935 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... |
OMIM:610442 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
Hyperekplexia 2 |
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Hiatus hernia, Exaggerated startle response |
OMIM:614619 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309246 |
Plaa-Associated Neurodevelopmental Disorder |
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Optic atrophy, Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polyda... |
ORPHA:521426 |
Hyperekplexia 3 |
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Hiatus hernia, Exaggerated startle response |
OMIM:614618 |
Gm1 Gangliosidosis Type 1 |
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Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing, Exaggerated sta... |
ORPHA:79255 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Failure to thrive, Optic nerve hypoplasia, Joint contracture, Exaggerated startle response |
OMIM:617864 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Overlapping toe, Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Rocker bottom foot, Exaggerated startle response, Postaxial polydactyly, Failure t... |
OMIM:617527 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Tremor, Clinodactyly of the 5th finger, Exaggerated startle response |
OMIM:618056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Flexion contr... |
OMIM:253800 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Sandhoff Disease, Infantile Form |
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Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Limb joint contracture, Exaggerated startle response |
OMIM:620327 |
Stiff-Person Syndrome |
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Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Tay-Sachs Disease |
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Optic atrophy, Tremor, Exaggerated startle response, Dystonia, Cherry red spot of the macula, Lar... |
ORPHA:845 |
Asparagine Synthetase Deficiency |
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Optic nerve hypoplasia, Tremor, Exaggerated startle response, Failure to thrive, Large hands |
OMIM:615574 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Developmental And Epileptic Encephalopathy 49 |
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Optic atrophy, Exaggerated startle response |
OMIM:617281 |
Sandhoff Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Optic atrophy, Exaggerated startle response |
OMIM:620451 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Short femur, Short humerus, Tapered finger, Exaggerated startle response |
OMIM:618367 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Dystonia, Exaggerated startle response |
OMIM:620423 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Short finger, Clinodactyly of the 5th finger, Broad toe, Short foot, Exaggerated startle response... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Uterine prolapse, Dystonia, Hip dysplasia, Optic disc pallor |
ORPHA:438213 |