Not currently registered for phenotyping at IMPC

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

Gene Summary

chloride channel, voltage-sensitive 7

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Increased bone mineral density OMIM:166450
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Diabetes mellitus, Increased bone mineral density OMIM:602475
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Retinal degeneration, Ataxia, Seizure, Cerebellar atrophy... OMIM:614322
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Retinal atrophy, Cerebral atrophy, Ataxia, Respiratory insufficiency, Status epilepticus, ... OMIM:610127
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Extramedullary hematopoiesis, Mandibular prognathia, Recurrent fractu... OMIM:259710
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Retinal degenerati... OMIM:204500
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fr... ORPHA:2785
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... OMIM:618889
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Basal ga... ORPHA:225154
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature, Increased bone mineral density OMIM:618406
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Neon... OMIM:619057
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Developmental And Epileptic Encephalopathy 28
Rigidity, Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal degeneration, Seizure, Mic... OMIM:616211
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... ORPHA:204
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, S... ORPHA:100070
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic at... OMIM:610951
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Osteoporosis OMIM:166710
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Cerebral atrophy, Retinal degeneration, Ataxia, Seizure, Increased neuronal... OMIM:256730
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinal degeneration OMIM:238340
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Cortical dysplasia, Focal impaired awareness seizure, Focal cortical d... OMIM:607341
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Facial paralysis, Increased bone ... OMIM:259700
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary teeth, Cariou... OMIM:265800
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteopenia, Delayed puberty, Osteoporosis OMIM:615270
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Microcephaly, Abnormality of retinal pigmentation, Ankle clonus OMIM:145290
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Diffuse spongiform leukoencephalopathy, Spastic h... ORPHA:282166
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, B... OMIM:231095
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Progressive spasticity, Tetraplegia/tetraparesis, Progressive spastic p... ORPHA:506353
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum, Ataxia, Generalized myoclonic seizure ORPHA:85334
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, R... OMIM:600333
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Phosphoserine Phosphatase Deficiency
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Seizure, Intrauterine growth retardat... OMIM:614023
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Abnormality of extrapyramidal motor function, Increased extraneuronal aut... OMIM:204200
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Pachygyria, Chorioretinal ... OMIM:251270
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Pyle Disease
Genu valgum, Limited elbow extension, Delayed eruption of teeth, Carious teeth, Hypoplastic front... OMIM:265900
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Tooth agenesis, Micrognathia, Brachydac... ORPHA:2645
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Gliosis, Neuronal loss in the cerebral cortex, Status epi... ORPHA:168486
Eiken Syndrome
Oligodontia, Short philtrum, Thick lower lip vermilion, Delayed ossification of carpal bones, Bro... OMIM:600002
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Retinal degeneration, Ataxia, Seizure, Cerebellar atrophy, Increa... OMIM:256731
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal cells, Abnormal m... ORPHA:86843
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Stillbirth, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia... OMIM:259720
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Pigmentary retinopathy, Growth delay, Seizure, Microcephaly, Spasticity OMIM:617613
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebral atrophy, Cerebellar atrophy, Short stature, Babinski sign, Micro... OMIM:619090
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Hypertonia, Central apnea, Respiratory insufficiency, Cerebral dysmyelinati... OMIM:611722
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimuation test, Severe short stature, Retinal degeneration,... OMIM:225755
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormality of extrapyramidal motor function, Abnormal cerebral white matter morpho... ORPHA:275864
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigidity, Neuronal... OMIM:600795
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Cerebral cortical hemiatrophy, Hyper... ORPHA:33445
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Tremor, Clumsiness, Atonic seizure, Eyelid myoclonus, Abnormal lo... ORPHA:2590
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Ataxia, Seizure, Corticospinal tract atrophy, Retinopathy, R... OMIM:551500
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Abnormal periventricular white matter morphology, Abnormal cerebral white matter mo... OMIM:618476
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Abnormal periventricular wh... OMIM:604360
Summitt Syndrome
Craniosynostosis, Obesity OMIM:272350
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Bone marrow hypercellularity OMIM:616937
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventricular leuk... OMIM:615889
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Macrocephaly, Osteopetrosis, Severe short stature, Increased bone mine... ORPHA:2780
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Clumsin... ORPHA:79264
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Myoclonic spasms, Ataxia, Seizure, ... ORPHA:644
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Pigmentary retinopathy, Gliosis, Ataxia, Respiratory in... OMIM:256000
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Seizure, Cerebellar atrophy, Short stature, Simplified gyral p... OMIM:616171
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Optic nerve compression, Anemi... OMIM:259730
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Seizure, Respiratory failure, Myoclonus, Microcephaly, Spasticity OMIM:225753
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Severe short stature, Retinal degeneration, Delaye... OMIM:275400
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Increased bone mi... ORPHA:3352
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Short distal phalanx of finger, Sandal ga... OMIM:311300
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature... OMIM:608278
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Abnormal posturing, Pigmentary retinopathy, Cough, S... ORPHA:216866
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Micro... OMIM:600252
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Narrow mouth, Growth delay, Smooth philtrum, Hypodontia, Reduc... OMIM:619322
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ribs, Flared metaphys... OMIM:215045
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Anemia, Splenomega... ORPHA:37748
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Hypertonia, Neu... OMIM:617248
Mucolipidosis Iv
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Cerebellar atrophy, Sp... OMIM:252650
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Ramon Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Osteolysis, Abnormal dental ename... ORPHA:3019
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Abnormal cerebral white matter morphology, Leukoencephalopathy, Babin... OMIM:300660
Cofs Syndrome
Abnormality of retinal pigmentation, Hypertonia, Seizure, Cerebral cortical atrophy, Cerebral cal... ORPHA:1466
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar... OMIM:617862
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, Short stature, H... OMIM:613849
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Elevated circulating para... OMIM:600785
Hsd10 Mitochondrial Disease
Retinal degeneration, Seizure, Cerebral cortical atrophy, Spastic tetraplegia, Optic atrophy, Cho... OMIM:300438
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition, Synostosis of car... ORPHA:3238
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration OMIM:619256
Glutathione Synthetase Deficiency
Hemolytic anemia, Pigmentary retinopathy, Spastic tetraparesis, Neutropenia, Ataxia, Seizure, Int... OMIM:266130
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Abnormal periventricular white matter morphology, Spastic paraparesis, Hypopl... OMIM:612319
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Spastic tetraparesis, Respiratory insufficiency, Cerebral cort... OMIM:616081
Combined Oxidative Phosphorylation Deficiency 37
Retinal degeneration, Respiratory insufficiency, Seizure, Cerebellar atrophy, Respiratory failure... OMIM:618329
Ring Chromosome 14 Syndrome
Status epilepticus, Microcephaly, Growth delay, Pigmentary retinopathy OMIM:616606
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Seizure, Short stature, Intrauterine growth retardation, Mic... ORPHA:2515
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Cerebral atrophy, Retinal degeneration, Ataxia, Abnormal cor... ORPHA:442835
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Gliosis, Chorea, Slurred speech, Poo... ORPHA:157941
Pachygyria, Gliosis, Atonic seizure, Hemiparesis, Focal tonic seizure, Status epilepticus, Polymi... ORPHA:99802
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Hypopigmentation of hair, Albinism, Abnormal retinal morphology, Hypopigmentation o... ORPHA:2786
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Basal ganglia calcification, Cerebellar atrophy, Respira... OMIM:616505
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy OMIM:250450
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Recurrent fractures, Retinal degeneration, Increased bone ... OMIM:239000
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ... ORPHA:2769
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Seizure, Respiratory failure, Dysmetria, Leukoencephalopa... OMIM:618233
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Decreased circulating IgA level, Anemia, Sple... OMIM:612301
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Rhizomelia, Retinal degeneration, Short stature, Splenomegaly, Optic atrophy... OMIM:602271
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Spastic paraplegia, Pigmentary retinopathy, Retinal flecks, Abnormality o... ORPHA:100996
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spastic diplegia, Seizure, Short st... ORPHA:816
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnorma... ORPHA:397951
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Anterior rib punctate calcifications, Abnormal pelvis bon... ORPHA:1426
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Pachygyria, Narrow mouth, Absent septum pellucidum, Growth delay, Osteopetrosis, Severe short sta... ORPHA:35107
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Osteoglophonic Dysplasia
Long philtrum, Craniosynostosis, Short metatarsal, Short phalanx of finger, Hypoplastic toenails,... OMIM:166250
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Neurod... OMIM:615491
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short tibia, ... OMIM:118651
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Mandibular prognathia, Increased bone mineral density, Abnorma... ORPHA:2658
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Respiratory failure, Ataxia OMIM:618637
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis OMIM:617441
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Essential Thrombocythemia
Increased megakaryocyte count, Myelofibrosis, Abnormality of bone marrow cell morphology ORPHA:3318
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Hypochromic microcytic anemia, Gliosis, Growth delay, Head titubation, Subc... ORPHA:3240
Albers-Schönberg Osteopetrosis
Carious teeth, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Generalized oste... ORPHA:53
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Dyspnea, Cough, Respiratory failure requiring a... ORPHA:90117
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Atonic seizure, Brain atrophy, Myoclonic seizure, Bilateral tonic-clonic ... OMIM:619059
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Respiratory insufficiency due to muscle... OMIM:611890
Spastic paraplegia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration, Respiratory distress OMIM:615993
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Neur... OMIM:300894
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Postnatal growth retardation, Frontotemporal cerebr... ORPHA:391417
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Apnea, Rigidity, Gliosis, Clonus, Hypertonia, Myoclonic spasms, Abnormal aut... OMIM:614498
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Gapo Syndrome
Joint hypermobility, Sparse eyebrow, Sparse hair, Thick lower lip vermilion, Breast hypoplasia, A... OMIM:230740
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip osteoarthritis, Short middle phalanx of finger, Joint hyperflexibi... ORPHA:63442
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Diaphragmatic paralysis, Respiratory distress, Respiratory insuff... OMIM:614399
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Abnormality of extrapyramidal motor function, Ataxia, Respiratory insufficiency, Seizure, Respira... OMIM:614299
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Focal-onset seizure, Delayed menarche, Bilateral tonic-clonic seizure, Status epilepticus... ORPHA:330050
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Optic atro... OMIM:300983
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormality of skin pigmentation, Abnormal han... OMIM:300244
Myelofibrosis OMIM:254450
Oligodontia, Natal tooth, Increased susceptibility to fractures, High palate, Micrognathia, Scler... OMIM:224300
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Increased waist to hip ratio, Obesity OMIM:601665
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Ivory epiphyses of the distal phalan... OMIM:190350
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Hyperekplexia 4
Hypertonia, Cerebral atrophy, Seizure, Respiratory failure, Myoclonus OMIM:618011
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:615838
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation, Microdontia, Widely spaced teeth, ... OMIM:233810
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Hsd10 Disease, Infantile Type
Cerebral atrophy, Spastic diplegia, Poor coordination, Retinal degeneration, Frontotemporal cereb... ORPHA:391428
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Long philtrum, Thin vermilion border, Joint hypermobility, Decreased body weight, I... OMIM:614856
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Abnormality of retinal pigmentation, Anemia ORPHA:655
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Macular degeneration, Agenesis of corpus callosum OMIM:612948
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Ataxia, Seizure, Progressive leukoencephalopathy, Myoclonus, Leukoencepha... OMIM:252011
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Obesity OMIM:144800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Postnatal growth retardation, ... ORPHA:73272
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Corpus callosum atrophy, Atonic seizure, Focal-onset seizure, Cerebral atroph... ORPHA:168491
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physiology, Brad... ORPHA:329284
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Club-shaped distal femur, Patchy sclerosis of finger phalanx, Metaphyseal ... OMIM:218400
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hypermelanotic macule, Global brain atrophy, Bilateral tonic-cl... OMIM:609056
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... ORPHA:363400
Leukodystrophy, Hypomyelinating, 14
Growth delay, Cerebral atrophy, Respiratory insufficiency, Seizure, Cerebellar atrophy, Microceph... OMIM:617899
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Leigh Syndrome With Leukodystrophy
Apnea, Focal T2 hyperintense basal ganglia lesion, Pigmentary retinopathy, Seizure, Progressive c... ORPHA:255241
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Myoclo... OMIM:615362
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Synoph... ORPHA:2026
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Pelizaeus-Merzbacher Disease
Tremor, Reduction of oligodendroglia, Congenital laryngeal stridor, Progressive spastic quadriple... OMIM:312080
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Ataxia, Seizure, Cerebellar atrophy, Short stature, Microcephaly, Optic ... OMIM:612438
Temple-Baraitser Syndrome
Broad thumb, Open mouth, Short phalanx of the thumb, Short distal phalanx of finger, High palate,... ORPHA:420561
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia, Cerebral... ORPHA:309246
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tetraparesis, Hemiparesis, Ankle clonus, Respiratory failure, Short stature, Tongue fasciculations OMIM:600561
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Seizure, Cerebella... OMIM:256600
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Macular scar, Oligodontia, Narrow palate, Jaw swelling, Optic neuropathy, Alveolar ridge overgrow... OMIM:118400
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Hypoplasia of the corpus callosum, Growth ... OMIM:619260
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Poliosis, Tongue atrophy, Patchy alopecia, Short mandibular rami, Dent... OMIM:141300
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence o... ORPHA:2410
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormal bone ossification, Abnormality of femur morphology, Poo... ORPHA:1263
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Hypoplasia of the corpus callosum, Neurodegeneration, Status epilepticus, Seizure, Cereb... OMIM:616239
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Tooth agenesis, Crowded maxillary incisors, Micrognath... ORPHA:2063
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Abnormal nerve conduction velocity, Chorea, Slurred speech, ... ORPHA:98755
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Seizure, Short stature, Macular degeneratio... OMIM:270200
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short stature, Obesity OMIM:612463
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Multiple impacted teet... OMIM:113300
Developmental And Epileptic Encephalopathy 71
Seizure, Respiratory failure, Respiratory insufficiency OMIM:618328
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea, Cerebral... OMIM:617672
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Joint hypermobility, Choroidal neovascularization, Peripheral axonal neuropathy, Decreased nerve ... OMIM:608895
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Rhizomelia, Abnormality of the dentition, Limb undergrowth, Alopecia, Abnor... ORPHA:177
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Retinal degeneration, Ataxia, Spastic gait... OMIM:270700
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Joint st... ORPHA:750
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Nephropathy OMIM:172500
Intellectual Developmental Disorder With Cardiac Arrhythmia
Seizure, Retinal degeneration OMIM:617173
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Absent pubertal growth spurt, Neurodegeneration, Retinal telangiectasia, Cerebellar ... ORPHA:438134
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Leigh Syndrome With Cardiomyopathy
Basal ganglia gliosis, Global brain atrophy, Hypertonia, Neuronal loss in basal ganglia, Anemia, ... ORPHA:70474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Delayed eruption of teeth, Short phalanx of fing... OMIM:612350
Riboflavin Transporter Deficiency
Iris hypopigmentation, Tremor, Abnormal cranial nerve morphology, Sleep apnea, Abnormal autonomic... ORPHA:97229
Trisomy 9P
Hypoplastic toenails, Impacted tooth, Downturned corners of mouth, Dental crowding, Fingernail dy... ORPHA:236
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Decreased calvarial ossification, Extramedullary hematopoiesis,... ORPHA:313855
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Cerebral cor... OMIM:618291
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Foxg1 Syndrome
Choreoathetosis, Pachygyria, Abnormal respiratory system physiology, Optic disc hypoplasia, Hypop... ORPHA:561854
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Clonus, Hypertonia, Respiratory insufficiency, Brain atrophy, Seizure, Myoclonus, Secondar... OMIM:617290
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Ataxia, Seizure, Agyria, Agenesis of corpus callosum, L... OMIM:300067
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia ORPHA:480
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Degeneration of anterior horn cells, Ataxia, Respiratory insufficiency, Ne... OMIM:607596
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Respiratory insufficiency due to muscle weakness, Se... OMIM:159950
Frank-Ter Haar Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Short philtrum, Mandibular progna... ORPHA:137834
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Abnormal cerebral white matter morphology, Hy... OMIM:615905
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Seizure, Thrombocytopenia, Cerebral calcification, Anemia, I... ORPHA:858
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Retinal degeneration, Syndactyly, Brachydactyly, Rod-c... OMIM:615982
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Hypertonia, Seizure, Babinski sign, Optic atrophy, Rod-cone dystrophy OMIM:264470
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:613660
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... ORPHA:163649
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Craniosynostosis, Abnormality of hair texture, Bowing of the long bone... ORPHA:667
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Respiratory failure, Neuronal loss in central nervous system, Optic neuritis ORPHA:71211
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Aplasia of the 1st metacarpal, Dental crowding, Micrognathia, 2-3 toe syndactyly, ... ORPHA:476126
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Hypertonia, Seizure, Cerebral cortical atrophy, Short statur... ORPHA:2518
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:1486
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Increased circulating IgE level, High palate, Recurrent fr... OMIM:147060
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Abnor... OMIM:618587
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... ORPHA:950
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Megalencephaly, Astrocytosis OMIM:611087
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Neur... OMIM:615924
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Increased overbite, C... OMIM:618761
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Long philtrum, Delayed eruption of teeth, Short phalanx of fin... OMIM:184260
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Respiratory failure, Intrauterine growth retardation, Microcephaly ORPHA:1832
Krabbe Disease
Autoimmune thrombocytopenia, Hypertonia, Neurodegeneration, Seizure, Decerebrate rigidity, Diffus... OMIM:245200
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,... OMIM:607317
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Generalize... ORPHA:36387
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Abnormal ... OMIM:607208
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Retinal degeneration, Ataxia, Cone/cone-rod dystrophy, ... OMIM:249270
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic sweat glands, Abnormality of the nail, Oligodontia, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Thin vermilion border, Joint laxity, Metaphyseal irregularity, Central vert... OMIM:602557
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Reticular hyperpigmentation, Hy... ORPHA:2909
Neurodegeneration OMIM:222350
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Small nail, Hypoplastic toenails, Abnormality of... ORPHA:952
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Diabetes And Deafness, Maternally Inherited
Seizure, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis OMIM:187900
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Oculomotor apraxia, Retinal th... OMIM:615960
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Everted lower lip vermilion, Truncal obesity... ORPHA:181393
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Cerebral atrophy, Oculomotor apraxia, Respiratory insufficiency, Retinal dystrophy,... OMIM:614678
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Nephronophthisis 15
Seizure, Retinal degeneration OMIM:614845
Gray Platelet Syndrome
Myelofibrosis OMIM:139090
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, Short 5th metaca... ORPHA:1350
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity OMIM:617018
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Mandibular prognathia, Natal tooth, Thick verm... OMIM:601957
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Ataxia, Brain atrophy, Seizure, Respiratory insufficiency, Cerebellar atrophy, Leukoenceph... OMIM:618226
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Abnormality of extrapyramidal motor function, Global brain atro... OMIM:236792
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Respiratory insufficiency OMIM:253300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Sclerosis of skull base, Shor... OMIM:269300
Hypochromic microcytic anemia, Abnormality of retinal pigmentation, Tremor, Gait ataxia, Rigidity... ORPHA:48818
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Craniosynostosis, Metaphyseal chondrodysplasia, Sparse eyebrow, Small nail, Sparse hair, High ant... OMIM:250410
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Enamel hypoplasia, Carious teeth, Subperiosteal bone resorption, Delayed eruption... OMIM:277440
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Spastic tetraparesis, Choroidal neovascularization, Cerebral cortical atrophy, Macular degenerati... ORPHA:404451
Nephronophthisis 14
Retinal degeneration OMIM:614844
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Sparse hair, Osteopenia, Micrognathia, Brachyda... OMIM:601812
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral tonic-clonic seizure, Bra... OMIM:300423
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12