Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chloride channel, voltage-sensitive 7
Synonyms:
ClC-7

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 Clcn7 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.

The table below shows human diseases associated to Clcn7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Clcn7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Periapical bone loss, Mandibul... ORPHA:83451
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy OMIM:603649
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy OMIM:136550
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Facial paralysis, ... OMIM:259710
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth OMIM:166350
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Retinal degeneration, Increased extraneuronal autof... OMIM:204500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Seizure, Cerebral atrophy, Increased neuronal autofluorescen... OMIM:204200
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Dysmetria, Retinal deg... OMIM:256731
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Tetraparesis, Astrocytosis, Myoclonus, Cogwheel rigidity, Gait ataxia,... ORPHA:225154
Osteoporosis
Osteoporosis OMIM:166710
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, Abnormal metaphysis morpholo... ORPHA:2779
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration, Generalized myoclonic seizure, Agenesis of corpus callosum ORPHA:85334
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Carious teeth, Facial paralysis, Flared metaphysis, Pathologic fracture, Osteomyel... OMIM:259700
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Myelofibrosis, Increased bone mineral density, Hyperostosis craniali... OMIM:231095
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, Spasticity, Macular degeneration, Seizure, Cerebral atrophy, Myoclonus, Re... OMIM:256730
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... OMIM:610951
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Eruption failure, Thick lower ... OMIM:600002
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Osteoglosphonic Dysplasia
Rhizomelia, Tooth agenesis, Micrognathia, Multiple unerupted teeth, Brachydactyly, Abnormal bone ... ORPHA:2645
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Respiratory insufficiency, Ce... OMIM:610127
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Decreased body weight, Osteopetrosis, Macrocephaly, Short stature, Increased bone m... OMIM:617306
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the dentition, Macular degeneration, Reduced terminal:vellus ratio, Choriocapillar... OMIM:601553
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... ORPHA:100070
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Seizure, Hyporeflective spaces on macular OCT, Progressive s... ORPHA:506353
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Optic atrophy, Neonatal respiratory distress, Cerebral atrophy, Intrauterin... OMIM:619057
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Pancytopenia, Bone marrow ... ORPHA:86843
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil... ORPHA:210110
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Abnormal low... ORPHA:2590
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Cor... OMIM:122860
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Seizure, Generalized dystonia, Cerebella... OMIM:619389
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Progressive cereb... ORPHA:282166
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Postnatal growth retardation, Microcephaly, Short stature,... OMIM:619489
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Bone marrow hypercellularity OMIM:616937
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Opti... OMIM:259730
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, High, narrow palate, Bifid uvula, Coarse metaphyseal trabecularization, Del... ORPHA:2780
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Macular degeneration, Agenesis of corpus callosum,... OMIM:604360
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Retinal pigment epithelial mottling, Seizure, Retinopathy, Rod-cone dystrophy, Corticospi... OMIM:551500
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Dysplastic corpus callosum, Babinski sig... OMIM:252650
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Microcephaly, Craniosynostosis, Cleft... OMIM:600252
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula... OMIM:608161
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Neurodegeneration, Tented upper lip ve... OMIM:618476
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Stillbirth, Cranial hyperostosis, Flared metaphysis, Long philtrum, Extramedullary... OMIM:259720
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Short st... OMIM:619090
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation... ORPHA:3019
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,... OMIM:619322
Hemidystonia-Hemiatrophy Syndrome
Hemiatrophy, Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Advanced pneumatizat... ORPHA:306741
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo... OMIM:166250
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Stxbp1-Related Encephalopathy
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... ORPHA:599373
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Spasticity, Abnormal opti... ORPHA:33445
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ... ORPHA:1782
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica... ORPHA:1426
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Neuronal loss in cen... OMIM:600795
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Abnormal retinal morphology, Albinism, Osteoporosis, Hypopigmentati... ORPHA:2786
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Seizure, Retinal degeneration, Ataxia, Growth delay ORPHA:3363
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Seizure, Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detach... OMIM:251270
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Spasticity, Seizure, Respiratory insufficiency, Gliosis, A... OMIM:256000
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Seizure, Neutropenia, Ataxia, Spastic tetraparesis, Hemolytic anemia, Int... OMIM:266130
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Dysmetria, Tremo... OMIM:164500
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Myoclonic seizure, Cerebellar atrophy, Spasticity, Seizure, Abnorm... ORPHA:168486
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Growth delay, Seizure, Spasticity OMIM:617613
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen... ORPHA:2769
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of... ORPHA:2228
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Desmosterolosis
Severe short stature, Bifid uvula, Failure to thrive, Retrognathia, Intrauterine growth retardati... ORPHA:35107
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Oliver-Mcfarlane Syndrome
Severe short stature, Pigmentary retinopathy, Central heterochromia, Retinal degeneration, Delaye... OMIM:275400
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Steatocystoma Multiplex
Natal tooth OMIM:184500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, ... ORPHA:330050
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Retinal degen... OMIM:602271
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... ORPHA:90650
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Retinal pigment epithelial mottling, Seizure, Retinal arteriol... ORPHA:644
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Short philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta ORPHA:71267
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Intrauterine growth retardation, Re... OMIM:616171
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia ORPHA:1178
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,... ORPHA:2658
Hip Dysplasia, Beukes Type
Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality of bone mi... ORPHA:2114
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Seizure, Cerebral atrophy, Abnormality of coord... ORPHA:442835
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis OMIM:617441
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Seizure, Febrile seizure (within t... OMIM:619847
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Neurodegeneration, Postnatal growth retardation, Joint stiffness... OMIM:620210
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Spastic tetraplegia, Seizure, Retinal degen... OMIM:300438
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Increased bone mineral density, Angioid streaks of the fundus, Ret... OMIM:239000
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Albers-Schönberg Osteopetrosis
Optic atrophy, Abnormality of the dentition, Mandibular osteomyelitis, Carious teeth, Osteomyelit... ORPHA:53
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Tongue fasciculations, Spasticity, Seizure, Ataxia, Res... ORPHA:2254
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel mo... ORPHA:2325
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Homocarnosinosis
Spastic paraplegia, Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Cerebellar atrophy, Failure to thrive, Delayed erup... OMIM:214150
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Parkinsonism, Craniofacial ... OMIM:619565
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Intention tremor, B... OMIM:616505
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia, Respiratory failure OMIM:225753
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, ... OMIM:614307
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto... ORPHA:275864
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Tonic seizure, Hypertonia, Respiratory failure OMIM:611722
Developmental And Epileptic Encephalopathy 71
Gliosis, Respiratory failure, Seizure, Respiratory insufficiency OMIM:618328
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... ORPHA:2741
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Achondrogenesis Type 2
Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossification, Short ribs, Ab... ORPHA:93296
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Recurrent fractures, Thin bony cortex, Multiple prenatal fractures OMIM:619795
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Short 1st metacarpal, Delayed eruption of teeth, Short middle phalanx of fing... ORPHA:63442
Developmental And Epileptic Encephalopathy 28
Ataxia, Optic atrophy, Spasticity, Generalized non-motor (absence) seizure, Seizure, Cerebral atr... OMIM:616211
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar flattening, Short ribs, Generalize... OMIM:215045
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Seizure, Neurodegeneration, Dysmetria, Ank... OMIM:612319
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowing, Advanced pneuma... ORPHA:85188
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Seizure... ORPHA:157941
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, High palate, Cranial... ORPHA:2785
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Microcephaly, Decreased mean corpuscular vol... OMIM:616943
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Spasticity, Abnormal posturing, Seizure, Generalized dystonia, Opisthoton... ORPHA:216866
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Absent toenail, Everted lower ... ORPHA:420561
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Seizure, Retinal degeneration OMIM:617173
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Delayed eruption of teeth, Bo... OMIM:613849
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Seizure, Cerebral atrophy, Facial diplegia, Respiratory i... OMIM:611890
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Acc... OMIM:300244
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Pigmentary retinopathy, Respiratory insufficiency, Facial palsy, Poor ... ORPHA:370968
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Cofs Syndrome
Optic atrophy, Cerebral cortical atrophy, Seizure, Intrauterine growth retardation, Abnormality o... ORPHA:1466
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Bardet-Biedl Syndrome 16
Short stature, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Hemophago... OMIM:301078
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613660
Cherubism
Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge over... OMIM:118400
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Pigmentary retinopathy, Cerebellar atrophy, Seizure, Cerebral atrophy, R... ORPHA:79264
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microcephaly-Cardiomyopathy Syndrome
Short stature, Intrauterine growth retardation, Abnormality of retinal pigmentation, Seizure ORPHA:2515
Gapo Syndrome
High, narrow palate, Optic atrophy, Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Th... OMIM:230740
Brachydactyly, Type E1
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ... OMIM:113300
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit... OMIM:607624
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Tetraparesis, Hemiparesis, Ankle clonus, Short stature, Respiratory failure OMIM:600561
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, A... OMIM:615362
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Mandibular prognathia, Flared metaphysis, Facial hyperostosis, Patchy sclerosis of... OMIM:218400
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Hirs... ORPHA:2026
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Retinal degeneration, Brachydactyly, Rod-cone dystroph... OMIM:615982
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Joint hy... OMIM:608895
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... ORPHA:2063
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Delayed eruption of teeth, Postnatal growth retardation, Intrauterine growth r... ORPHA:73272
Sjögren-Larsson Syndrome
Spasticity, Macular degeneration, Seizure, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:816
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Horner syndrome, Tongue atrophy,... OMIM:141300
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, Focal impaired awareness seizure, Generalized-onset seizure, Focal-onset ... OMIM:616606
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Pycnodysostosis
Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of pri... OMIM:265800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Dysto... OMIM:312170
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab... OMIM:615889
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Thin nail... OMIM:190350
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Tongue fasciculations, Respiratory insufficiency, Spastic tetraparesis... OMIM:616081
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Cerebellar atrophy, Dysdiadochokinesis, Abnorm... ORPHA:98755
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar flattening,... OMIM:616108
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatarsal, Shor... OMIM:612463
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Alopecia, Limitation of joint mobility, Sparse body hai... ORPHA:177
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Optic nerve compression, Abnormal metaphysis morphology, Premature los... ORPHA:667
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Seizure, Retinal degeneration OMIM:520000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Hypopigmentation of the fundus, Downturned corners of ... ORPHA:163649
Trisomy 9P
Dental crowding, Downturned corners of mouth, Hypoplastic fingernail, Impacted tooth, Fingernail ... ORPHA:236
Myelofibrosis
Myelofibrosis OMIM:254450
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neu... ORPHA:391428
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Wide mouth, Gingival overgro... ORPHA:137834
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Hepatosplenomegaly, Micrognathia, Delayed eruption of prima... ORPHA:763
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Macular degeneration, Cerebellar atrophy, Fasciculations, Generali... ORPHA:284289
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Nephronophthisis 15
Seizure, Retinal degeneration OMIM:614845
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint contracture of the hand, Bifid uvula, Broad femoral neck, Dental malocclusion, ... OMIM:612350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Ankle clonus, Abnormal l... OMIM:613954
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif... ORPHA:1263
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Unilateral radial aplasia, Eruption failure, Long philtrum, Dental ... ORPHA:476126
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Seizure, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Retinal d... OMIM:249270
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Cerebral atrophy, Tetraparesis, Myoclonus, Limb dys... ORPHA:363400
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Retinopathy, Tremor, Rigidity, Upper motor neur... ORPHA:216873
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Spasticity, Myoclonic seizure, Lateral ventricle dilatation, Retinal pigment epithelial mottling,... OMIM:619517
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Abnormal auditory evoked potentials, Growth delay, Cerebellar atrophy, Cerebral atrophy, ... OMIM:619260
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Spastic tetraplegia, Seizure, Diffuse cerebral atrophy, Absent brainstem auditory responses, Head... ORPHA:3240
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Spastic tetraplegia, Seizure, Respiratory insufficiency, Cerebral atrophy, Intraut... OMIM:615330
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Respiratory failure, Neuronal loss in central nervous system, Paraplegia ORPHA:71211
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Hyperekplexia 4
Cerebral atrophy, Seizure, Infantile spasms, Myoclonus, Hypertonia, Respiratory failure OMIM:618011
Glycine Encephalopathy 2
Respiratory failure, Seizure OMIM:620398
Nephronophthisis 14
Retinal degeneration OMIM:614844
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... OMIM:615400
Majeed Syndrome
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... ORPHA:77297
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Axial Spondylometaphyseal Dysplasia
Flattened femoral head, Optic atrophy, Peripheral retinal degeneration, Osteopenia, Aplasia/Hypop... ORPHA:168549
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt... OMIM:618761
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Respiratory failure, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Micromelia, Delayed eruption of teeth,... OMIM:184260
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)... OMIM:617810
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures ORPHA:1486
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Diaminopentanuria
Neurodegeneration OMIM:222350
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Cerebellar atrophy, Seizure, Cere... ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Hypertonia, Optic disc pallor, Respiratory failure OMIM:618240
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Seizure, Babinski sign, Rod-cone dystrophy, Hypertonia, Dy... OMIM:264470
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Cerebral atrophy, Ataxia OMIM:618637
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Seizure, Respiratory insufficiency, Abnormal motor nerve conduction veloci... OMIM:614399
Gm2 Gangliosidosis, Ab Variant
Seizure, Cherry red spot of the macula, Neurodegeneration, Postnatal growth retardation, Cerebral... ORPHA:309246
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Sjogren-Larsson Syndrome
Spasticity, Macular degeneration, Spastic paraparesis, Seizure, Retinal thinning, Macular dots, S... OMIM:270200
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor, Respiratory failure,... ORPHA:90117
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the... OMIM:617406
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Amyotrophic Lateral Sclerosis 28
Babinski sign, Chaddock reflex, Respiratory failure, Fasciculations OMIM:620452
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Small nail, Hypoautofluor... OMIM:250410
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Autosomal Recessive Spastic Paraplegia Type 15
Spastic paraplegia, Pigmentary retinopathy, Spasticity, Seizure, Hand tremor, Pseudobulbar paraly... ORPHA:100996
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Ataxia OMIM:300983
Gray Platelet Syndrome
Myelofibrosis OMIM:139090
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Myoclonic seizure, Spasticity, Bilateral tonic-clonic seizure with genera... OMIM:619059
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Small hand, Conical tooth, Toenail dysplasia, Small nail, Abnormal ... ORPHA:952
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Dental malocc... OMIM:601957
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation, Tremor, Hemiparesis, Dystonia, Cerebral cortical... ORPHA:306669
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Increased cup-t... OMIM:211380
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Camurati-Engelmann Disease
Bone marrow hypocellularity, Mandibular prognathia, Carious teeth, Slender build, Sclerosis of sk... OMIM:131300
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Seizure, Tremor, Rigidi... ORPHA:329284
Hsd10 Disease
Optic atrophy, Frontotemporal cerebral atrophy, Spastic paraparesis, Seizure, Postnatal growth re... ORPHA:391417
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Knee flexion contracture, Hip contracture,... OMIM:616809
Diastrophic Dysplasia
Neonatal short-limb short stature, Camptodactyly of finger, Joint stiffness, Intrauterine growth ... ORPHA:628
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Small nail, Alopecia totalis, Aplasia/Hypoplasia of the patella, ... ORPHA:2909
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Spasticity, Cerebral atrophy, Abnormality of retinal pigmentation, Babinski sign, Abnormal pyrami... ORPHA:397951
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Metaphyseal irregularity, Ulnar meta... ORPHA:174
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Increased bone mineral density, Joint hypermobility, De... OMIM:614856
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Opto-chiasmatic atrophy,... OMIM:615491
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Macroglossia, Hypoplasia ... ORPHA:1798
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of permanent teeth, Carp... OMIM:272460
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse eyebrow, Sparse scalp hair, Natal tooth, Cranial hyperostosis, Oligodontia, Sparse eyelash... OMIM:601345
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s... OMIM:269300
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Respiratory insufficiency OMIM:253300
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Sho... OMIM:252011
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Retinal degeneration, Abnormality of extrapyramidal mot... OMIM:604290
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body weight, Increased body mass index, Anemia, Macroglossia... OMIM:614450
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal,... ORPHA:1350
Odontochondrodysplasia
Dentinogenesis imperfecta, Micromelia, Delayed eruption of teeth, Retrognathia, Joint hypermobili... ORPHA:166272
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Agenesis of corpus cal... OMIM:616239
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Alopecia universalis, Carious tee... OMIM:277440
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ... ORPHA:50814
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Limited elbow extension, Narrow m... OMIM:614078
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Macular degeneration, Paraplegia, Retinal degeneration, Babinski sign, Lower ... OMIM:270700
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Fine hair, Melanocytic nevus, Pili tor... ORPHA:1573
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Respiratory insufficiency, Postnatal grow... OMIM:609981
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... ORPHA:1452
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Atrophy/De... OMIM:615838
Senior-Loken Syndrome 9
Osteopenia, Macular degeneration, Hypoplasia of the femoral head, Polydactyly, Rod-cone dystrophy... OMIM:616629
Hall-Riggs Syndrome
Coarse hair, Downturned corners of mouth, Delayed eruption of teeth, Abnormal dental enamel morph... ORPHA:2107
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology OMIM:605808
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Astrocytosis OMIM:611087
Spinocerebellar Ataxia 23
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Tremor, Bab... OMIM:610245
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal... OMIM:614592
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex, Bilateral tonic-cloni... OMIM:601068
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Long philtrum, Thick uppe... ORPHA:2563
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal taper