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Gene: Clcn7 MGI:1347048

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... ORPHA:53
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnor... ORPHA:667

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
Macular degeneration, Retinitis pigmentosa inversa, 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
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... 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
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary 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
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density 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
Osteopoikilosis, Flexion contracture, Joint stiffness 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
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... 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 dystrophy, Macular atrophy, Macular flecks OMIM:600110
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... OMIM:259710
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Increased extrane... OMIM:204200
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... OMIM:256731
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Osteoporosis
Osteoporosis OMIM:166710
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spasticity, Astro... ORPHA:225154
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Pa... OMIM:259700
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal diaphysis morphology, White fore... ORPHA:2779
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized myoclonic seizure, Macular degeneration, Agenesis of corpus callosum, Ataxia ORPHA:85334
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxi... OMIM:610127
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali... OMIM:231095
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic atrophy, Ce... OMIM:256730
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Rigidity, Optic atrophy, Cerebral atrophy, G... OMIM:619057
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Osteoglosphonic Dysplasia
Rhizomelia, Craniosynostosis, Micrognathia, Multiple unerupted teeth, Tooth agenesis, Abnormal bo... ORPHA:2645
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower li... OMIM:600002
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Increased bone mineral density, Short stature, Micrognathia, Macrocephaly,... OMIM:617306
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Bone marrow hypercellularity, Pancytopenia, Megakaryocyte nucleus hypolobulation, ... ORPHA:86843
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Moderately short stature, Central ... ORPHA:506353
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... ORPHA:204
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Short stature, Cortical sclerosis,... OMIM:122860
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Generalized dystonia, Ataxia, Corpu... OMIM:619389
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Short stature, Microcephaly, Postnatal growth retardation,... OMIM:619489
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Osteoporosis OMIM:616937
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... OMIM:259730
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hi... ORPHA:2780
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S... OMIM:604360
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Hyperreflexia
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Hemiatrophy, Advanced pneumatizat... ORPHA:306741
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Intrauterine growth reta... OMIM:600252
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Optic atrophy, Spastic tetraplegia... OMIM:252650
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Retinal pigment epithelial mottling, Seizure, Corticospinal tract atrophy, Rod-cone dystr... OMIM:551500
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal... OMIM:618476
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Short stature, Babinski sign, Cerebral atrophy, Pigmentary retinopathy, Spast... OMIM:619090
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Fa... OMIM:259720
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Ramon Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... ORPHA:3019
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Neonatal respiratory distress, Apnea, Myocloni... ORPHA:168486
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Splenomegaly, Recurrent pneumonia, Optic atro... OMIM:602271
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,... ORPHA:33445
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... OMIM:619322
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplastic toenails, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... OMIM:612301
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... ORPHA:1782
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Myoclonus, Dystonia, Neuronal loss in central nervous syst... OMIM:600795
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Leigh Syndrome
Ataxia, Optic atrophy, Respiratory insufficiency, Seizure, Pigmentary retinopathy, Respiratory fa... OMIM:256000
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Osteoporosis, Hypopigmentation o... ORPHA:2786
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Spastic tetraparesis, Seizure, Pigmentary retinopathy, Neutropenia, Int... OMIM:266130
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Seizure, Spasticity, Pigmentary retinopathy OMIM:617613
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Growth delay, Seizure, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... ORPHA:2228
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Frequent falls, Spasticity, Opisthotonus, Seizure, Pigme... ORPHA:216866
Desmosterolosis
Increased bone mineral density, Severe short stature, Micrognathia, Microcephaly, Splenomegaly, S... ORPHA:35107
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Pontocerebellar Hypoplasia Type 1
Ataxia, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior horn cells, Seizure... ORPHA:2254
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory insufficiency, Seizure, Respiratory failure, Gliosis OMIM:618328
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia ORPHA:1178
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short 3rd metacarpal, Limb undergrowth, Short... OMIM:118651
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Tonic seizure, Respiratory insufficiency, Respiratory failure, Hypertonia, Global ... OMIM:611722
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis OMIM:617441
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... ORPHA:53
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Essential Thrombocythemia
Myelofibrosis, Increased megakaryocyte count, Abnormal bone marrow cell morphology ORPHA:3318
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Oliver-Mcfarlane Syndrome
Central heterochromia, Severe short stature, Pigmentary retinopathy, Delayed puberty, Retinal deg... OMIM:275400
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum ORPHA:71267
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Short stature, Clonus, Babinski sign, Spastic tetraplegia, Cerebra... OMIM:619847
Bardet-Biedl Syndrome 16
Respiratory distress, Rod-cone dystrophy, Short stature, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Relative macrocephaly, Increased bone mineral density, Short stature, Recurrent fract... OMIM:239000
Narp Syndrome
Optic disc pallor, Short stature, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epitheli... ORPHA:644
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Short stature, Joint stiffness, Postnatal growth retardation, Sp... OMIM:620210
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Apnea, Episodic tachypnea,... ORPHA:79264
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Short stature, Macular atrophy, Partial agenesis of the co... OMIM:616171
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Opti... ORPHA:442835
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... ORPHA:2325
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Flared metaphysis, Advanced ossification of... OMIM:215045
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia OMIM:236130
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Delayed eruption of teeth, Failure to thrive, Diffuse cerebral atrophy, Small... OMIM:214150
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin... OMIM:619565
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Pigmentary retinopathy, Status epilept... OMIM:614307
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... OMIM:616505
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... ORPHA:2741
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... OMIM:249710
Pontocerebellar Hypoplasia, Type 4
Seizure, Respiratory failure, Hypertonia, Gliosis, Myoclonus, Spasticity OMIM:225753
Myelofibrosis
Myelofibrosis OMIM:254450
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of ext... ORPHA:275864
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... ORPHA:90117
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Cranial nerve compression, Leukopenia, High palate, Prominence of the zygomatic bon... ORPHA:2785
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short middle phalanx of the 5th finger, Joint hyperflexibility, Short ... ORPHA:63442
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Hsd10 Mitochondrial Disease
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Spasticity, Cerebral cortical atrop... OMIM:300438
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... OMIM:611890
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Joint stiffness ORPHA:1078
Temple-Baraitser Syndrome
Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,... ORPHA:420561
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Microme... ORPHA:93296
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Del... OMIM:218400
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Poor gross motor coordination, Respiratory insufficiency, Pigmentary retinopathy, R... ORPHA:370968
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Cofs Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Seizure, Hypertonia, Intrauter... ORPHA:1466
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetos... OMIM:312170
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, ... ORPHA:98755
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Type I diabetes mell... OMIM:301078
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... ORPHA:2635
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Cherubism
Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar... OMIM:118400
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Gapo Syndrome
Alopecia, Sparse eyelashes, Facial palsy, Micrognathia, Sparse eyebrow, Retinal arteriolar tortuo... OMIM:230740
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... OMIM:113300
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... OMIM:607624
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis OMIM:600561
Developmental And Epileptic Encephalopathy 28
Rigidity, Optic atrophy, Cerebral atrophy, Seizure, Status epilepticus, Spasticity, Retinal degen... OMIM:616211
Microcephaly-Cardiomyopathy Syndrome
Seizure, Abnormality of retinal pigmentation, Short stature, Intrauterine growth retardation ORPHA:2515
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... ORPHA:2026
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy... OMIM:141300
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Pycnodysostosis
Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Micrognathia, A... OMIM:265800
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... ORPHA:2063
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short stature, Small for gestational age, Micrognathia, Postnatal grow... ORPHA:73272
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Seizure, Retinal degeneration OMIM:617173
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormal pyram... ORPHA:816
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paral... OMIM:614399
Ring Chromosome 14 Syndrome
Generalized-onset seizure, Focal-onset seizure, Growth delay, Pigmentary retinopathy, Status epil... OMIM:616606
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene... OMIM:615889
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnor... ORPHA:667
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Cere... OMIM:616081
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stip... ORPHA:177
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B... OMIM:612463
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Micrognathia, Coxa valga, Cleft palate, Hemia... ORPHA:163649
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure with generalized onset, Short stature, Myoclonic seizure, Pigmenta... OMIM:619059
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Choroidal neovascularization, Decreased nerve conduction velocity, ... OMIM:608895
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Rod-cone dystrophy, Retinal degeneration, ... OMIM:615982
Trisomy 9P
Brachydactyly, Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Impacted tooth, Down... ORPHA:236
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Camptodactyly of finger, T... OMIM:612350
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:614561
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... ORPHA:137834
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Short stature, Retin... OMIM:616108
Pycnodysostosis
Ridged nail, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteo... ORPHA:763
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absence of thum... ORPHA:476126
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus callosum, Retinal pigment epit... OMIM:619517
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon... ORPHA:284289
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Spastic tetraplegia, Respiratory insufficiency, Cerebral atrophy, Seizure, Respira... OMIM:615330
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short stature, Dental crowding, Micrognathia, Persistence of primary teeth, Microcephaly, Thick l... OMIM:618342
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Optic atrophy, Seizure, Pigmentary retinopathy, Hypertonia, Dystonia, Rod-cone dys... OMIM:264470
Diabetes And Deafness, Maternally Inherited
Seizure, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex OMIM:176920
Glycine Encephalopathy 2
Seizure, Respiratory failure OMIM:620398
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... ORPHA:391428
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Neuronal loss in central nervous system, Optic neuritis, Paraplegia ORPHA:71211
Nephronophthisis 15
Seizure, Retinal degeneration OMIM:614845
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Increased overbite, Campto... OMIM:618761
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosinophilia, In... OMIM:147060
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Fasciculations OMIM:613435
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Diaminopentanuria
Neurodegeneration OMIM:222350
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia, Cerebral atrophy OMIM:618637
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Generalized non-motor ... OMIM:617810
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Short stature, Ataxia, Thiamine-responsive megalob... OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Myoclonic seizure, Respiratory failure, Hypertonia, Myoclonus OMIM:618240
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Ost... OMIM:184260
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Short stature, Macular coloboma, Macular atrophy, Abnormal... OMIM:619260
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... OMIM:615491
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal pyramida... OMIM:256600
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Seizure, M... OMIM:270200
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Retinal dystroph... ORPHA:168549
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... ORPHA:309246
Hyperekplexia 4
Cerebral atrophy, Seizure, Respiratory failure, Hypertonia, Myoclonus OMIM:618011
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Autosomal Recessive Spastic Paraplegia Type 15
Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand tremor, Seizure, Pigmentary retino... ORPHA:100996
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Corpus callosum atrophy, Focal-onset ... ORPHA:168491
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Gray Platelet Syndrome
Myelofibrosis OMIM:139090
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Optic atrophy, Seizure, Spasticity, Cerebral cortical atrophy OMIM:300983
Acrofacial Dysostosis, Weyers Type
Abnormal fingernail morphology, Conical tooth, Hypoplastic toenails, Abnormality of the dentition... ORPHA:952
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... ORPHA:189
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Lateral ventricle d... ORPHA:306669
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Hypopigmentation of the skin, Natal tooth, Abnormality of hair texture, De... OMIM:601957
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... OMIM:131300
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral at... ORPHA:391417
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Short stature, Recurrent fractures, Dentinogenesis imperfecta, Os... OMIM:614856
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Micrognathia, Cleft pal... ORPHA:628
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Craniosynostosis, Micro... OMIM:250410
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Sp... ORPHA:397951
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa... OMIM:211380
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Ce... OMIM:615838
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Apnea, Retinal degeneration, Opisthotonus OMIM:616896
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Short metacarpal, Abnormality of retinal pigmentation, Block vertebrae, Tarsal ... OMIM:272460
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Dysostosis, Stanescu Type
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Abnormality of ... ORPHA:1798
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Short stature, Dental crowding, Carious teeth, Sc... OMIM:269300
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast... OMIM:601345
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Bull's eye ... ORPHA:228346
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... OMIM:616809
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Short stature, Ataxia, Babinski sign, Optic atrophy, Seizure, Pigmentary retinopathy, M... OMIM:252011
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Spinal Muscular Atrophy, Type I
Respiratory failure, Tongue fasciculations, Respiratory insufficiency OMIM:253300
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Cleft palate... OMIM:614078
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Relative macrocephaly, Increased body weigh... OMIM:614450
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Spast... OMIM:616239
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Craniolenticulosutural Dysplasia
Smooth philtrum, Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teet... ORPHA:50814
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Optic atrophy, Dysmetria, Seizure, Respiratory failure OMIM:618233
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption... OMIM:277440
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Seizure, Respi... OMIM:614299
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Joint hyperflexibili... ORPHA:166272
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Bowing of the legs, Hirsutis... ORPHA:313855
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Immunodeficiency 54
Chromosome breakage, Short stature, Postnatal growth retardation, Splenomegaly, Respiratory insuf... OMIM:609981
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Astrocytosis OMIM:611087
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... OMIM:610245
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Cli... ORPHA:1452
Hall-Riggs Syndrome
Delayed eruption of teeth, Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Join... ORPHA:2107
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Tremor, Generalized myoclonic seizure, Giant somatosensory evoked... OMIM:601068
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Apnea, Respiratory failure, Brain atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:616277
Immunodeficiency 95
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Ataxia, Retinal dystrophy, Short stature ORPHA:3156
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis OMIM:187900
Aplasia Cutis Congenita
Abnormality of bone mineral density ORPHA:1114
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Melanocytic nevus, Mac... ORPHA:1573
Momo Syndrome
Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D... ORPHA:2563
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex OMIM:615127
Senior-Loken Syndrome 9
Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Polydactyly,... OMIM:616629
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Macular deg... OMIM:270700
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Retinal telangiectasia, Gait ata... ORPHA:438134
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Delayed eruption of permanent tee... OMIM:112350
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat... OMIM:614592
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Respiratory insufficiency due to muscle weakness, Tremor... OMIM:159950
Pelizaeus-Merzbacher Disease
Generalized dystonia, Reduction of oligodendroglia, Short stature, Writer's cramp, Ataxia, Head t... OMIM:312080
Polycythemia Vera
Myelofibrosis, Gingival bleeding ORPHA:729
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Tooth agenesis, Mesomelia, Abnormal palate morphology, Brachydactyly ORPHA:1277
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Corpus Callosum Agenesis-Neuronopathy Syndrome
Seizure, Agenesis of corpus callosum, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis ORPHA:1496
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Tremor, Respiratory insufficiency... ORPHA:97229
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... ORPHA:1133
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thi... OMIM:618506
Retinitis Pigmentosa 6
Immotile cilia, Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst... OMIM:615924
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Persistence of primary teeth, Supernumerary tooth, Increased cir... OMIM:619752
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Infantile spasms, Spastic tetraparesis, Macular degeneration, Dysto... ORPHA:404451
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... OMIM:305620
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Sandal gap,... OMIM:614607
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babi... OMIM:128100
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility OMIM:617952
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... OMIM:617672
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Hemiplegia, Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Short stature, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seiz... OMIM:612438
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Retinal atrophy, Postural tremor, Corp... ORPHA:412057
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... ORPHA:250972
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Leber Congenital Amaurosis
Seizure, Abnormal optic disc morphology, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis ORPHA:65
Ruvalcaba Syndrome
Short metacarpal, Retinal dystrophy, Dental crowding, Micromelia, Limited elbow extension, Short ... OMIM:180870
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Cerebe... OMIM:615157
Joubert Syndrome 3
Central apnea, Retinal dystrophy, Episodic tachypnea, Ataxia, Pigmentary retinopathy, Lateral ven... OMIM:608629
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Sparse hair, Microdon... ORPHA:221016
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Coxa ... ORPHA:166002
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Tonic seizure, Respiratory insufficiency due to muscle weakness, Seizure, Agenesis of corpus call... OMIM:615249
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Dystonia, Bull's eye maculopathy, Parkinsonism, Acanthocytosis, Rigidity, ... ORPHA:157850
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Hig... ORPHA:1327
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis ORPHA:480
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Tachypnea, Diaphragmatic paralysis, Deg... OMIM:604320
Kenny-Caffey Syndrome, Type 2
Papilledema, Increased bone mineral density, Severe short stature, Small for gestational age, Sho... OMIM:127000
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Delayed eruption of teeth, Relative macrocephaly, Dental crowding, Splenomega... OMIM:616354
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:613869
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... ORPHA:170
Leigh Syndrome
Chorea, Choreoathetosis, Abnormal optic nerve morphology, Gliosis, Neutropenia, Agenesis of corpu... ORPHA:506
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic... OMIM:245200
Cleidocranial Dysplasia 2
Osteopenia, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruption of primary... OMIM:620099
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Coffin-Siris Syndrome 3
Joint laxity, Sparse scalp hair, Thick eyebrow, Short distal phalanx of the 5th finger, Cleft pal... OMIM:614608
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... ORPHA:181
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Delayed eruption of teeth, Hyperextensibility of the finger joints, Thick low... OMIM:619797
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Jo... ORPHA:93323
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Hypoplasia of the toot... OMIM:182250
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epi... ORPHA:289157
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involu... ORPHA:48818
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... ORPHA:2314
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Giant somatosensory evoke... OMIM:613608
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Cleft upper lip, Hypoplasi... ORPHA:915
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Craniosynostosis, Micrognathia, Absent... ORPHA:166035
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... ORPHA:2863
Alg6-Cdg
Seizure, Rod-cone dystrophy, Ataxia, Retinal degeneration ORPHA:79320
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the... OMIM:113000
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Hyperconvex fingernails, High palate, Widely spaced teeth, Advanced er... ORPHA:192
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Anemia, Seizure, Intrauterine growth retardation, Thrombocyt... ORPHA:858
Incontinentia Pigmenti
Abnormal hand morphology, Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail mor... ORPHA:464
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy, Ataxia, Head titubation, Oculomotor apraxia ORPHA:370022
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Opti... OMIM:607694
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Retinal detachment, Highly arched eyebrow, Abnormality of the dentitio... ORPHA:2712
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Microcephaly, Decreased bo... OMIM:608747
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth delay, Seizure, Choreoathetosis, Dystonia... OMIM:619422
Achondrogenesis
Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral density, ... ORPHA:932
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernume... ORPHA:1433
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Hypopigm... ORPHA:221008
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Delayed eruption of teeth, Brittle hair, Thin upper lip vermilion, Cari... OMIM:607812
12Q14 Microdeletion Syndrome
Short stature, Micrognathia, Microcephaly, Abnormality of the spleen, Osteopoikilosis, Downturned... ORPHA:94063
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Abnormal respiratory sys... ORPHA:803
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Bilateral tonic-clonic se... ORPHA:496641
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Laurence-Moon Syndrome
Ataxia, Short stature, Spastic paraplegia, Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Mandibular prognathia, Relative macrocephaly, Recurrent fractures, Postnatal growth r... ORPHA:2324
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Tapered finger, Broad fingertip, Small hand, Short m... ORPHA:2896
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Short stature, Optic atrophy, ... ORPHA:1493
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:300717
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Abnormal oral cavity morphology, Narrow ... ORPHA:1355
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Growth... ORPHA:445038
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutane... OMIM:103580
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Micrognathia, Osteoarthritis, Truncal obesity, T... ORPHA:633
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Ataxia, Proportionate short stature, Spastic tetraparesis, Babinski sign, S... ORPHA:3208
Achondrogenesis, Type Ib
Micromelia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies, Malar flattening OMIM:600972
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Cleft palate, ... ORPHA:2631
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Seizure, Optic atrophy, Spastic tetraparesis OMIM:619470
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Optic atrophy, Dysmetria, Seizure, P... ORPHA:289494
Coxoauricular Syndrome
Abnormal femur morphology, Micromelia, Reduced bone mineral density ORPHA:1508
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... ORPHA:884
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,... OMIM:614613
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Tremor, Optic atrophy,... OMIM:617710
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... ORPHA:2484
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth ... OMIM:264700
Achondrogenesis Type 1A
Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Shor... ORPHA:93299
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Seizure, Hypertonia, Intrauter... ORPHA:2518
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Focal-onset seizure, Generalized non-motor (absence) seizure, Resp... ORPHA:258
Kniest Dysplasia
Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femoral head, Aplasia/hypo... ORPHA:485
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Hypoventilation, Ataxia, Paralysis, Cerebral co... OMIM:203700
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... ORPHA:33364
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Persistence of primary teeth, Postnatal growth retardation, Carious t... ORPHA:93325
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, Attenuation of retinal b... OMIM:204000
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Mild postnatal growth retardation, Splenom... ORPHA:90324
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, L... ORPHA:206436
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Micrognathia, Os... ORPHA:1427
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hypertonia, Spas... OMIM:609260
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Microgna... ORPHA:2980
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia, Generalized hypopigmentation,... ORPHA:1816
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P... OMIM:234200
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ... OMIM:101800
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Generalized-onset seizure, Respiratory insufficiency due to muscle weakness... ORPHA:254875
Weismann-Netter Syndrome
Abnormal cortical bone morphology, Anemia ORPHA:3344
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Generalized-onset seizure, Tremor, Retrobulbar optic neuritis, Dysplastic corp... OMIM:619737
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia, Arm dystonia, Neurodegeneration, ... ORPHA:79244
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, ... OMIM:601104
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypertonia, Heterochro... ORPHA:1390
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Protruding tongue, Splenomegaly, Optic atrophy, Gingival overgrowth,... OMIM:230600
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spinal cord, Paraparesis, Seizure, ... ORPHA:2822
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Arthritis, Anemia, Persistence of primary teeth ORPHA:375
Poretti-Boltshauser Syndrome
Retinal thinning, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy OMIM:615960
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Ataxia, Chorea, Seizure, Respiratory failure, Spa... ORPHA:70472
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia, Microcephaly, Postnatal growth retardation, In... OMIM:600546
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic fingernail, Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fi... OMIM:619356
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Retinal pigmen... OMIM:617102
Ollier Disease
Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia ORPHA:296
Canavan Disease
Hypertonia, Seizure, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars... ORPHA:2067
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... OMIM:602557
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Short stature, Splenomegaly, Spastic diplegia, Anemia, Seizu... ORPHA:290
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Cerebral... OMIM:611302
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Axonal degeneration, Poor coordination, Neurode... ORPHA:478029
Achondrogenesis Type 1B
Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Talipes equinovarus, Long... ORPHA:93298
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Se... OMIM:220110
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Axonal degeneration, Gait at... ORPHA:88628
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax... OMIM:615986
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Short palm, Sparse h... OMIM:268400
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Infantile spasms, Tremor, Defective DNA repair after ultraviolet radiation damage, Growth... OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... OMIM:213200
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Limitation of joint mobility, Micromelia, Coxa vara ORPHA:168555
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Cerebral atrophy, Grow... OMIM:222300
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, High palate, Joint laxity OMIM:607721
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm... ORPHA:53271
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Respiratory distress, ... OMIM:615512
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Missing ribs, Joint stiffness, Micrognathia, Limitation of ... ORPHA:1801
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Short stature, Micrognathia, ... OMIM:259775
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, Abnormal pyram... OMIM:248500
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature, Reduced forced expiratory volume in one secon... OMIM:108145
Incontinentia Pigmenti
Ridged nail, Conical tooth, Abnormality of skin pigmentation, Coarse hair, Oligodontia, Sparse ha... OMIM:308300
Familial Adenomatous Polyposis 1
Carious teeth, Supernumerary tooth, Congenital hypertrophy of retinal pigment epithelium, Eruptio... OMIM:175100
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... ORPHA:529665
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Nemaline Myopathy 8
Respiratory failure, Facial palsy OMIM:615348
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Absent... OMIM:609638
Chediak-Higashi Syndrome
Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy... OMIM:214500
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Retinopathy, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Delayed e... OMIM:619269
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Joubert Syndrome 28
Oculomotor apraxia, Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:617121
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P... ORPHA:254881
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... OMIM:300894
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Myoclonic seizure, Respiratory failure,... OMIM:620327
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint hyperflexibility, Short ri... ORPHA:1803
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Abetalipoproteinemia
Ataxia, Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... ORPHA:46627
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micrognathia, Micromelia, Abnorm... ORPHA:93329
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth... ORPHA:10
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Delay... ORPHA:2409
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... ORPHA:50945
Desmosterolosis
Relative macrocephaly, Failure to thrive, Rhizomelia, Micrognathia, Microcephaly, Generalized ost... OMIM:602398
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Sanjad-Sakati Syndrome
Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Postnatal ... ORPHA:2323
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Sialidosis Type 2
Short stature, Ataxia, Tremor, Splenomegaly, Dyspnea, Seizure, Abnormal macular morphology ORPHA:87876
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Ataxia, Short stature, Hemiplegia/hemiparesis, Optic atrophy ORPHA:1173
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... ORPHA:2249
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo... OMIM:607778
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy, Ataxia OMIM:619473
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sagittal craniosynostosis, Micrognathia, Hypopl... OMIM:616901
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Dystonia, Short stature, Ataxia, Incoordinat... ORPHA:209905
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Short stature, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, ... OMIM:617836
Schwartz-Jampel Syndrome, Type 1
Micromelia, Micrognathia, Bowing of the legs, Metaphyseal widening, Deep philtrum, Coxa vara, Ant... OMIM:255800
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cleft palate, Stillbirth, Short middle phala... OMIM:256050
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Jeune Syndrome
Abnormality of retinal pigmentation, Short stature, Respiratory insufficiency ORPHA:474
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Babinski sign, Respiratory insuffi... OMIM:618186
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Severe short stature... OMIM:309900
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Respiratory insufficiency due to muscle weakness, Pigmentary retinopathy, Abnormal pyramidal sign... ORPHA:329336
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Abnormal thumb morpholo... ORPHA:1597
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... ORPHA:429
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Neonatal Adrenoleukodystrophy
Seizure, Optic atrophy, Abnormality of retinal pigmentation, Short stature ORPHA:44
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Castleman Disease
Myelofibrosis ORPHA:160
N Syndrome
Cryptorchidism, Leukemia, Hypospadias, Abnormality of chromosome stability OMIM:310465
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Clinodactyly of th... ORPHA:2108
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... OMIM:615994
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Respiratory failure, Abnor... ORPHA:3226
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Hypertrichosis Cubiti
Rhizomelia, Micromelia, Abnormal eyelash morphology, Joint hyperflexibility, Generalized hirsutis... ORPHA:2220
Acrocraniofacial Dysostosis
Abnormal fingernail morphology, Craniosynostosis, Tapered finger, Micrognathia, Coxa valga, Cleft... ORPHA:949
Vici Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Macular atrophy, Albinism, Postnatal grow... OMIM:242840
Hurler Syndrome
Hypoplasia of the femoral head, Joint stiffness, Coxa valga, Hypoplasia of the odontoid process, ... OMIM:607014
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Cerebral atrophy, Growth delay, Normochromic anemia, Neutropenia, Pulmonary arterial h... OMIM:614857
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... OMIM:616053
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... OMIM:610217
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, G... OMIM:618090
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Joint hypermobility OMIM:620065
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Severe short stature, Respiratory insufficiency OMIM:313420
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Natal tooth, Ankle flexion contracture, Micrognathia, Microcephaly, Cerebral ... OMIM:617802
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short stature, Osteoporosis, Obesity, Enamel hypoplasia OMIM:612462
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv... ORPHA:247234
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic optic chiasm, Dysme... OMIM:210000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Werner Syndrome
Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Alopecia of scalp, Retinal d... OMIM:277700
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Ankle clo... OMIM:617435
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Short toe, Gingival overgrowth, Gingiv... OMIM:225410
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... ORPHA:240103
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, High, narrow palate... OMIM:119600
Gardner Syndrome
Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Congenital hypertrophy of retin... ORPHA:79665
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Short stature, Titubation, Respiratory failure, Gliosis ORPHA:280210
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ... ORPHA:397946
Three M Syndrome 2
Delayed eruption of teeth, Relative macrocephaly, Severe short stature, Small for gestational age... OMIM:612921
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... ORPHA:314632
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Micr... OMIM:241410
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Retinal detachment, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges... OMIM:609616
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... OMIM:619736
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Bradypnea, Respiratory failure... OMIM:617186
Autosomal Recessive Kenny-Caffey Syndrome
Microcephaly, Postnatal growth retardation, Carious teeth, Growth delay, Cortical thickening of l... ORPHA:93324
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Sparse scalp hair, Rocker bo... ORPHA:902
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... OMIM:617284
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al... OMIM:618727
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... ORPHA:2751
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Methylmalonic aciduria, Neutropenia, Lymphopen... ORPHA:859
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft palate, Malar fl... ORPHA:2145
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Micrognathia, Multiple prenatal fractures, Decreased f... OMIM:616897
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... OMIM:617237
Atypical Rett Syndrome
Dystonia, Sudden episodic apnea, Episodic tachypnea, Infantile spasms, Involuntary movements, Tre... ORPHA:3095
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature ORPHA:3085
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Cerebellar hypoplasia, Cerebral atrophy OMIM:272300
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Abnormal T cell morphology, Macular ... ORPHA:3132
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture, Cerebral atrophy, Microcephaly OMIM:617105
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Recurrent fractures, Micrognathia, Hypoplasia of the ma... OMIM:601812
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Retinal dystrophy, Ataxia, Tremor, Dysmetria, Oculomotor apraxia, Rod-cone dy... OMIM:614867
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Macrocephaly,... OMIM:157980
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... OMIM:616331
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Splenomegaly, Short stature, Retinal degeneration OMIM:615630
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Neurodegeneration, Spastic paraparesis, Or... OMIM:615643
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly ORPHA:40
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Tremor, Babinski sign, Optic atrophy, Slurred speech, Cerebra... ORPHA:137898
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Scheie Syndrome
Mandibular prognathia, Retinal degeneration, Genu valgum OMIM:607016
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Short stature, Diaphyseal sclerosis, I... ORPHA:94089
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing... ORPHA:2928
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-mot... OMIM:620166
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... OMIM:234100
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Dental crowding, Cranial hyperostosis, Sclerosis of skull base, Macrocepha... OMIM:123000
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Micromelia, Hepatosplenomegaly OMIM:273680
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent... OMIM:616229
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematur... ORPHA:447788
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Chorioretinal dystrophy, Dyspnea, Optic atrophy, Growth delay, Respiratory ... ORPHA:2707
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Smith-Magenis Syndrome
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Short stature, Failure to ... ORPHA:819
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Macular coloboma, Infantile spasms, Megaloblastic anemia, Pulmonary... ORPHA:79282
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure, Short stature, Asthma, Optic atrophy, Pigmentary retinopathy, Rod... OMIM:300578
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Delayed eruption of teeth, Natal tooth, Short stature, Optic atrophy, Growth ... OMIM:614381
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Arthritis ORPHA:3260
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Macrocephaly, Adva... OMIM:617865
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity, Craniosynostosis ORPHA:3210
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Multiple Pterygium-Malignant Hyperthermia Syndrome
Hyperconvex fingernails, Downturned corners of mouth, Advanced eruption of teeth, Prominence of t... ORPHA:2215
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Craniosynostosis, Bowing... ORPHA:89936
Unilateral Polymicrogyria
Apnea, Epistaxis, Infantile spasms, Involuntary movements, Focal-onset seizure, Spastic tetrapleg... ORPHA:268943
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Decreased cranial base ossifica... OMIM:151210
Waardenburg Syndrome, Type 3
Mandibular prognathia, Partial albinism, Camptodactyly of finger, Aganglionic megacolon, Synophry... OMIM:148820
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Brain atrophy, Intrauterine growth retar... OMIM:620326
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Optic atrophy, Limb ataxia, Ti... ORPHA:98768
Prolidase Deficiency
Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Micrognathia... ORPHA:742
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conductio... OMIM:618733
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Metaphyseal widening, Short ribs, Limb undergrowth, Brachyd... OMIM:618961
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respira... OMIM:610505
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Respiratory insufficiency, Opisthotonus, Respiratory f... OMIM:605711
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Respiratory insufficiency OMIM:613156
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic mega... ORPHA:894
Brittle Cornea Syndrome
Hallux valgus, Retinal detachment, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Ab... ORPHA:90354
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Emphysema, Pneumothorax ORPHA:122
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Calvarial os... OMIM:617994
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Widely-spaced incisors, Fine hair, Woolly scalp hair... ORPHA:79414
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Mi... ORPHA:90652
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Sagittal craniosyn... OMIM:145420
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Temporomandibular joint ankylosis, Lateral ... OMIM:164900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Growth delay, Respira... OMIM:245400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Respiratory insufficiency, Seizure, Respiratory failure, Pigmentary retinopathy, F... ORPHA:746
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia ORPHA:2772
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Atrophy/D... ORPHA:228360
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Natal tooth, Short stature, Increased circulating IgA level, Carious teeth, Neutrope... OMIM:616395
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Multiple Sulfatase Deficiency
Cerebellar atrophy, Short stature, Ataxia, Splenomegaly, Cerebral atrophy, Spasticity, Retinal de... OMIM:272200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Splenomegaly, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdi... ORPHA:309854
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of... ORPHA:2633
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Facial palsy, Restrictive ventilatory defect, Respiratory failure, Frequent f... OMIM:606612
Poems Syndrome
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Metaphyseal sclerosis, Leukonychia, ... ORPHA:2905
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Bab... ORPHA:52368
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, A... OMIM:211750
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Small for gestational age, Increased body weight OMIM:274300
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Macrocephaly, Wide mouth, High palate, Long philtrum OMIM:618825
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Joubert Syndrome 6
Ataxia, Breathing dysregulation, Chorioretinal coloboma, Oculomotor apraxia, Retinal degeneration OMIM:610688
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition, Increased suscept... OMIM:241500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Re... OMIM:618291
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Optic atrophy, Clumsiness, Growth del... OMIM:615673
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis... OMIM:213600
Infantile Systemic Hyalinosis
Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge... ORPHA:2176
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tr... OMIM:610185
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration, Acanthocytosis OMIM:615558
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F... ORPHA:263463
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Chorioretinal hyperpigmentation, Optic atrophy, Respiratory insufficiency, My... OMIM:618329
Gm1 Gangliosidosis
Mandibular prognathia, Camptodactyly of finger, Joint stiffness, Abnormal retinal vascular morpho... ORPHA:354
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Growth delay, Hypertonia,... OMIM:619738
Glutathionuria
Tremor, Asthma, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Micrognathia,... ORPHA:96170
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Microcephaly, Overweight, Carious teeth, Obesity, Yel... OMIM:619229
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Short stature, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Synophrys, Downturned... OMIM:122470
Primary Hyperoxaluria
Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Abnormality of the dentitio... ORPHA:416
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Short stature, Optic atrophy, Oligodontia, Hypodontia, Delayed puberty... ORPHA:447896
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Alg1-Cdg
Cerebellar atrophy, Seizure, Respiratory failure, Cerebral atrophy ORPHA:79327
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Limitation of joint mob... OMIM:224400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Se... ORPHA:5
Dpm1-Cdg
Tented upper lip vermilion, Sandal gap, Micrognathia, High, narrow palate, Optic atrophy, Knee fl... ORPHA:79322
Schwartz-Jampel Syndrome
Micrognathia, High palate, Wrist flexion contracture, Long philtrum, Pursed lips, Increased bone ... ORPHA:800
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, 2-3 finger synd... OMIM:269500
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Intermediate Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171433
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Melanocytic nevus ORPHA:2801
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails... ORPHA:235
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight OMIM:615830
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Hypopigme... ORPHA:177910
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Micrognathia, Conical tooth, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Sparse ha... ORPHA:1071
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:614831
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormal retinal vascular morphology, Optic a... ORPHA:2715
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Tremor, Splenomegaly, Optic atrophy, Seizure, Pontocerebellar atrop... OMIM:608799
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, C... ORPHA:845
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... ORPHA:3214
Refsum Disease, Classic
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:266500
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Recon Progeroid Syndrome
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pro... OMIM:620370
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Dystonia OMIM:614105
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma... ORPHA:436245
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, High palate, Neutropenia, Limb undergrowth, Joint contracture, Retrognathia, Hirsutism OMIM:618005
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Ataxia, Abnormality of Krebs cycle metab... ORPHA:255210
Refsum Disease
Abnormality of retinal pigmentation, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal pyram... ORPHA:773
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ... ORPHA:289
Squalene Synthase Deficiency
Optic nerve hypoplasia, Micrognathia, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality ... OMIM:618156
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... ORPHA:93352
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi... ORPHA:352731
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Microgn... OMIM:309350
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Bronchiectasis, Respiratory ... ORPHA:244
Niemann-Pick Disease Type C
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr... ORPHA:646
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu... ORPHA:811
Kabuki Syndrome 2
Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Microcephal... OMIM:300867
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Short stature, Postnatal growth retardation, Generalized j... ORPHA:2962
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Opt... OMIM:609033
Micro Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Seizure, Retinal coloboma, Del... ORPHA:2510
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Seizure, Retinal degeneration ORPHA:542306
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Sparse hair, Syndactyl... OMIM:614091
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Clonus, Optic atrophy, Respiratory failure, Hypertonia OMIM:617301
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Brachydactyly, Decreased circulating IgG level, Rhizomelia, Ab... OMIM:271510
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Abnormality of the dentition, Synophrys, Small hand, Short foot, Down... ORPHA:238750
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... OMIM:619143
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Clef... ORPHA:2756
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Micromelia ORPHA:93283
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrophy, D... ORPHA:572798
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... OMIM:602080
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Splenomegaly, Respiratory insuffic... OMIM:607625
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Retina... OMIM:209900
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Albinism, Gingival bleeding, Impaired platelet aggregation, Hypopigment... OMIM:614072
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Frequent falls, Torticollis ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Emanuel Syndrome
Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Cerebr... OMIM:609029
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short metatarsal, Macular degeneration, Widely spaced teeth, High palat... OMIM:266920
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Conical tooth, Hypoplasia of the maxilla, Diastem... OMIM:619142
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Abnormal dental morphology, Abnormal dental enamel m... ORPHA:1458
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral den... ORPHA:2720
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Hyposegmentation of neutrophil nuclei, Optic at... OMIM:614800
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Facial palsy, Restrictive ventilatory defect, Respiratory fail... ORPHA:98913
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pigmentary retinopath... OMIM:600462
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Delayed eruption of teeth, Narrow mouth, Small hand, Hirsutism, Gingival overgro... OMIM:235510
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... ORPHA:3429
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Abnormality of the dentition, Reticulated skin pigmentation, Osteo... OMIM:613989
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency OMIM:609015
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, Pa... ORPHA:355
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Growth delay, Seizure, Respiratory failure, Intrauterine growth retardation, Cerebral cortical at... ORPHA:1194
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Rocker bottom foot, Micromelia, Abnormal denta... ORPHA:2616
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Acrocephalopolydactyly
Limb undergrowth, Hepatosplenomegaly, Brachydactyly ORPHA:221054
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Abnor... ORPHA:83629
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Growth delay, Seizure, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Combined Oxidative Phosphorylation Deficiency 52
Seizure, Respiratory failure OMIM:619386
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... OMIM:613848
Ataxia-Telangiectasia
Hypopigmentation of hair, Abnormality of chromosome stability, Short stature, Ataxia, Tremor, Pre... ORPHA:100
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Retinal dystrophy, Apnea, Ataxia, Tremor, Seizure, Retinal coloboma, Oculo... ORPHA:220493
Cockayne Syndrome A
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Retinal atrophy, Short statu... OMIM:216400
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... OMIM:108720
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Congenital hypertrophy of retinal pigment epit... ORPHA:733
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef... ORPHA:158687
Kleefstra Syndrome 1
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Persistence of primary teeth, P... OMIM:610253
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... ORPHA:2796
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c... ORPHA:79474
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Small for gestational... OMIM:619148
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Highly arched eyebrow, Hypoplastic fifth fingernail... OMIM:615866
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Short stature, Exag... ORPHA:261494
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Optic atrophy, Choreoathetosis, Seizure, Dystonia, Spasticity OMIM:617664
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Sparse ey... OMIM:616300
Farber Disease
Respiratory distress, Short stature, Infantile spasms, Thrombocytopenia, Paraparesis, Respiratory... ORPHA:333
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Intrauterine growth retardation, Neonatal respiratory distress, Ret... ORPHA:96179
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Broad nail, Coxa ... ORPHA:63446
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Thick hair, Joint stiffness, Avascular necrosis of the capital femoral... ORPHA:581
Pseudopseudohypoparathyroidism
Ectopic ossification, Obesity ORPHA:79445
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ... ORPHA:175
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Short stature, Stridor, Respiratory failure, Int... OMIM:606071
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing... OMIM:617866
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Spastic tetraparesis, Respiratory insufficiency due to muscle weakness, Optic atrophy, Ab... ORPHA:436271
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Joubert Syndrome 21
Apnea, Ataxia, Splenomegaly, Dyspnea, Optic atrophy, Megalopapilla, Seizure, Respiratory failure,... OMIM:615636
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity ORPHA:77296
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Coxa valga, ... ORPHA:96263
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Failure to thrive, Paranasal sinus hypoplasia, Short stature, Dental crowding, Micro... OMIM:300373
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Microcephaly, Oligodontia... ORPHA:2315
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Frontal balding, Metatarsus ad... ORPHA:3041
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility, High palate ORPHA:1035
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneumonitis, Dy... ORPHA:330021
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Micromelia, Increased skull ossification, Chorioretinal coloboma, Short phalanx... ORPHA:1422
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Patellar aplasia, Kn... ORPHA:85201
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... ORPHA:93357
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Tibial bowing, Limb undergr... ORPHA:453510
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima... OMIM:133540
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Short stature, High palate, Advanced eruption o... OMIM:262190
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Hyperventilation OMIM:612291
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Large for gestational age, Abnormality of the dentition, Microcephaly... ORPHA:261652
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the lon... ORPHA:85167
Short Syndrome
Joint laxity, Delayed eruption of teeth, Small for gestational age, Micrognathia, Dental malocclu... OMIM:269880
Thoracic Dysplasia-Hydrocephalus Syndrome
Seizure, Respiratory failure, Short stature, Ataxia ORPHA:1861
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Degenerative vitreoretinopathy OMIM:607598
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, White hair, Fine hair, Reduced bone mineral density, Agammaglobulinemia, L... ORPHA:935
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Small ... ORPHA:3121
Myopathy, Mitochondrial, And Ataxia
Short stature, Ataxia, Tremor, Dysmetria, Limb ataxia, Growth delay, Pigmentary retinopathy, Dysd... OMIM:617675
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short stature, Bull's eye macul... OMIM:216550
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp... ORPHA:2309
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin... ORPHA:330015
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, T lymphocytopenia, Decreased circulating IgG level, Short p... ORPHA:508533
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... ORPHA:90321
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Productive cough, Bronchiectasis, Decreased nasal nitric oxid... OMIM:615434
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Gliosis, Hypertonia, Retinal degenerati... ORPHA:191
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Apnea, Optic neuropathy, A... OMIM:252010
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Short stature, Ataxia, Poor motor coordination, Tre... ORPHA:1170
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Cerebral atrophy, Gait ataxia, Choreoa... OMIM:618877
Tibial Muscular Dystrophy
Respiratory failure, Clumsiness ORPHA:609
Sialidosis Type 1
Short stature, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Tremor, Slurred speech,... ORPHA:812
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Coxa valga, ... ORPHA:96264
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia ORPHA:35687
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, M... OMIM:612813
Melas
Abnormal central motor function, Bilateral tonic-clonic seizure, Short stature, Ataxia, Focal-ons... ORPHA:550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebr... OMIM:618321
Acromesomelic Dysplasia 4
Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutis... OMIM:619636
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Short stature, Obesity, Ectopic ossifi... ORPHA:79444
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowi... ORPHA:1855
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Delayed eruption of teeth, Limb joint contracture, Short stature, Microcephal... OMIM:301072
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... ORPHA:101
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia, Pigmentary retinopathy ORPHA:79095
Cole-Carpenter Syndrome
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel ... ORPHA:2050
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Ataxia ORPHA:578
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Craniosynostosis, Optic atrophy, Gingival overgrowth, Narrow palate... OMIM:123790
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... ORPHA:1842
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardat... ORPHA:96180
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Decreased circulatin... OMIM:618162
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Tibial bowing,... OMIM:166210
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... ORPHA:3206
Mulibrey Nanism
Growth delay, Pigmentary retinopathy, Short stature, Intrauterine growth retardation OMIM:253250
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Short stature, Splenomegaly, Optic atrophy, Seizure, Abnorma... ORPHA:585
Cartilage-Hair Hypoplasia
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Spa... OMIM:250250
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Osteoporosis, Obesity, Flexion contracture of toe ORPHA:3409
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Retinal detachment, Poliosis, Abnormal eyelash mo... ORPHA:3437
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Severe short stature, Retinal dystroph... ORPHA:2556
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Flexion contracture, Tibial bowing, High palate, Widely spaced teeth, Micr... OMIM:143095
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Growth delay, Seizur... ORPHA:765
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Abnormal eyelash... ORPHA:2671
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Short stature, Obesity, Reduced bone m... ORPHA:79443
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Papillorenal Syndrome
Retinal detachment, Short stature, Morning glory anomaly, Macular hyperpigmentation, Optic disc c... OMIM:120330
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Spasticity, Opisthotonus OMIM:610678
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Apnea, Clonus, Tremor, Cerebral atrophy, Growth delay, Seizure, Hypopnea, Respiratory f... OMIM:617248
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Brushfield spots, Non-midline cleft lip, Hypopigmented skin ... ORPHA:1784
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Ataxia, Myoclonus, Mottled pigmentation of photoexposed areas OMIM:560000
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Seizure, Bradykinesia, Dystoni... ORPHA:70594
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... OMIM:617337
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Flexio... ORPHA:90322
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Snakebite Envenomation
Epistaxis, Paralysis, Respiratory failure, Pseudobulbar paralysis, Respiratory paralysis, Thrombo... ORPHA:449285
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Kearns-Sayre Syndrome
Sideroblastic anemia, Short stature, Ataxia, Seizure, Pigmentary retinopathy OMIM:530000
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Gliosis, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod dystroph... ORPHA:404454
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Dubowitz Syndrome
Delayed eruption of teeth, Aplastic anemia, Short stature, Micrognathia, Postnatal growth retarda... OMIM:223370
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye... OMIM:167210
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Osteopathia striata, Short metatarsal, Oligo... OMIM:305600
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos... ORPHA:828
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Hypopigmentation of hair, Wide mouth, Hypopigmentation of the skin, Iris h... ORPHA:411515
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Micrognathia, Long fingers, Synophrys, High, narrow palate, Abnormality of denta... ORPHA:96092
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Limitation of joint mobility, ... ORPHA:1865
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... ORPHA:37553
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Gait ata... OMIM:616878
Metatropic Dysplasia
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... OMIM:156530
Sotos Syndrome
Joint laxity, Mandibular prognathia, Sparse eyebrow, High, narrow palate, Long metacarpals, Narro... OMIM:117550
Icf Syndrome
Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Micrognathia, Pro... ORPHA:2268
Perrault Syndrome 4
Disproportionate tall stature, Osteoporosis, Obesity OMIM:615300
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Thick hair, Onychauxis, Abnormality of the dentition, Low... ORPHA:769
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Short stature, Tremor, Seizure, Hyperkinetic movements, Gliosis, ... ORPHA:457240
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Disproporti... OMIM:616482
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Apnea, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia,... OMIM:300055
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival... OMIM:618529
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Respiratory failure, Myoclonus, Tongue fasciculations, Cerebral cortical atrophy OMIM:614922
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Respiratory distress, Dystonia, Rhizomelia, Ataxia, Tremor, Recurrent pneumon... OMIM:616271
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence... ORPHA:97360
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Seizure, Status epile... OMIM:607426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Tachypnea, Respiratory i... OMIM:618278
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Rhizomelia, Abnormality of the nail, Mesomelia, Broad thumb,... ORPHA:171866
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Widely spaced teeth, Short philtrum, Chorioretinal coloboma, Sparse hair, Clinodactyly of the 5th... OMIM:280000
Kagami-Ogata Syndrome
Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contracture, Splenomeg... OMIM:608149
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Short stature, Tremor, Dysmetria, Growth delay, Pigmentary retinopathy, Progre... ORPHA:502423
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Abnormal dental morphology, Abnormal o... ORPHA:2136
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Hypopigmentation of the ski... ORPHA:125
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Frequent falls, Nocturnal hypoventilation OMIM:603689
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... OMIM:135500
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Deep philtrum, Gin... ORPHA:534
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Severe postnata... ORPHA:98905
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Overweight, Persistence of hemoglobin F, Macrocephaly OMIM:619769
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Sple... ORPHA:580
Xeroderma Pigmentosum, Complementation Group F
Short stature, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Numerous ... OMIM:278760
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density ORPHA:2235
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Infantile spasms, Hemiplegia/hemiparesis... ORPHA:50
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... ORPHA:1775
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Deep philtrum, Short... OMIM:613320
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Seizure, Restrictive ventilatory defect, Respiratory failure, ... ORPHA:26791
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Tremor, Seizure, Pigmentary retinopathy, Abnormality of extrapyramidal moto... OMIM:277400
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restrictive ventilatory defect, Re... ORPHA:99931
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Gingival overgrowth... ORPHA:508542
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Brushfield spots, Optic nerve dysplasia, Seizure, Pigmentary retinopathy, Hypoplasia of th... OMIM:214110
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... OMIM:209885
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Coxa valga, Synophrys,... OMIM:619297
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Abetalipoproteinemia
Abnormality of retinal pigmentation, Reticulocytosis, Ataxia, Acanthocytosis, Upper motor neuron ... ORPHA:14
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Decre... ORPHA:666
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy,... ORPHA:2526
Lowry-Wood Syndrome
Pigmentary retinopathy, Short stature, Restrictive ventilatory defect, Intrauterine growth retard... OMIM:226960
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Short stature, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pi... OMIM:610651
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Sparse hair, Clinod... ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Lateral ventricle dilatation, Optic atrophy, Retinal dysplasia OMIM:613154
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Thick eyebrow, Mandibular prognathia, Tented upper lip vermilion, Hi... ORPHA:488632
Craniosynostosis And Dental Anomalies
Hallux valgus, Papilledema, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Denta... OMIM:614188
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Hyposegmentation o... OMIM:618019
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigid... ORPHA:25
Glutamine Deficiency, Congenital
Micromelia, Flexion contracture, Thin vermilion border, Camptodactyly, Neonatal death OMIM:610015
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Osteoporosis, Small hand, Short f... ORPHA:398079
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand polydactyly, Cleft pal... OMIM:241800
Nephronophthisis 11
Anemia, Growth delay, Retinal degeneration OMIM:613550
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Clin... OMIM:618870
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... ORPHA:2221
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... OMIM:601356
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, Downturned corners of ... ORPHA:79500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Short stature, Chronic neutropenia, Carious teeth, Osteoporosis, Oral ulcer, Gout, In... ORPHA:79259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Respiratory insufficiency, Seizure, Respiratory failure, Ag... OMIM:608836
Prader-Willi Syndrome
Osteopenia, Syndactyly, Hypopigmentation of hair, Thin upper lip vermilion, Carious teeth, Acromi... OMIM:176270
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Micrognathia, Splenomegaly, Osteolytic defects of the ... ORPHA:280365
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Neurodegen... OMIM:300100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft lip, Preaxial polyda... OMIM:617925
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Retinal telangiectasia, Postnatal growth retardation, Thrombocytopenia, Tr... OMIM:612199
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Generalized-onset seizure, Brushfield spots, Splenomegaly, Optic nerve dyspla... OMIM:614866
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia... ORPHA:99027
Ramon Syndrome
Delayed eruption of teeth, Optic disc pallor, Short stature, Gingival fibromatosis, Narrow palate... OMIM:266270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Achondroplasia
Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Short ... ORPHA:15
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor ... OMIM:617013
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Seizure, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Ataxia, Babinski sign, Abnormal fundus morphology, C... ORPHA:94147
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Abnormality of skin pigmentation, Lateral ventricle dilatation, Respirator... OMIM:300868
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Glioma, Short stature, Retinal pigment epithelial mottlin... OMIM:251260
Laron Syndrome
Limb undergrowth OMIM:262500
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Metaphyseal dysplasia, Proximal place... OMIM:600373
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Apnea, Truncal titubation, Tremor, Dysmetria, G... OMIM:618056
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... ORPHA:435638
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Microcephaly, Cleft palate, Jo... OMIM:247200
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Rhizome... ORPHA:818
Malignant Atrophic Papulosis
Seizure, Pleural effusion, Abnormal optic nerve morphology, Respiratory failure ORPHA:679
Chromosome 6Pter-P24 Deletion Syndrome
Seizure, Agenesis of corpus callosum, Pigmentary retinopathy OMIM:612582
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thick eyebrow, Small hand, Short foot, Retrognathia, Thickened cortex of long bones, ... ORPHA:488434
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Micrognathia, Open bite, Widow's peak, Dee... ORPHA:1974
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter... OMIM:613845
Jaberi-Elahi Syndrome
Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait a... OMIM:617988
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Growth delay, Hypochloremia, Hypokalemia, Increased circulating renin level OMIM:214700
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Cousin Syndrome
Micrognathia, Low anterior hairline, Clinodactyly of the 5th finger, Wrist flexion contracture, D... OMIM:260660
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped... ORPHA:3144
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Cleft pala... ORPHA:1318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Retinal dystrophy OMIM:616538
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Narrow ... ORPHA:77301
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Amyloid deposition in the vitreous humor, Abnormal pyramidal sign, Paraplegia, Li... OMIM:105210
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... OMIM:168600
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Flexion contr... OMIM:619124
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty... ORPHA:999
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Generalized joint laxity, Increased body weight ORPHA:589905
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... OMIM:300990
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Short stature, Optic atrophy, Abnor... ORPHA:193
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Short stature, Bilateral tonic-clonic seizure with focal onset... OMIM:614947
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Hamartoma of to... OMIM:269860
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Bilateral cleft lip, Mi... OMIM:612651
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Anemia OMIM:620296
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Short stature, Postnatal growth retardation, Carious teeth... ORPHA:2834
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Thin upper lip vermilion, Absent platelet dense granules, Albinis... OMIM:608233
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,... ORPHA:713
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Large for gest... ORPHA:226313
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Ab... ORPHA:96169
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Hypopigmented skin patches, Coxa vara, Multiple cafe-au-lait spots, Fine hair, Joint ... ORPHA:2637
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:1824
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Retinal pigment epithelial mottling, Babinski sign, Respiratory insufficiency, Dysmetria,... OMIM:607459
Bohring-Opitz Syndrome
Retinal atrophy, Short stature, Apnea, Optic atrophy, Seizure, Lower limb hypertonia, Intrauterin... ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Seizure, Retinal dysp... OMIM:236670
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense gra... OMIM:619172
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Limited e... OMIM:602875
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Flared metaphysis, Short ribs, Neonatal death, Meta... OMIM:187601
Mucopolysaccharidosis, Type Vii
Severe short stature, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly,... OMIM:253220
Nocardiosis
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Nonproductive co... ORPHA:31204
Wrinkly Skin Syndrome
Osteopenia, Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Short stature, Microce... OMIM:278250
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Angelman Syndrome
Optic disc pallor, Hypopigmentation of the skin, Ataxia, Infantile spasms, Tremor, Optic atrophy,... ORPHA:72
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Tremor, Opisthotonus, Choreoathe... ORPHA:79139
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Asparagine Synthetase Deficiency
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, Clonic sei... OMIM:615574
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Arachnodactyly, Abnormal thumb morphology, Limitation of joint mobility... ORPHA:2719
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Optic atrophy, Rod-con... OMIM:268315
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:2163
Coffin-Siris Syndrome
Joint laxity, Sparse scalp hair, Thick eyebrow, Delayed eruption of teeth, Thin upper lip vermili... ORPHA:1465
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Sparse eyelashes, Micrognathia, Absent e... OMIM:275210
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Riddle Syndrome
Short stature, Pneumonia, Ataxia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive... ORPHA:420741
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... ORPHA:3322
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Microcephaly, Neurodegeneration,... OMIM:615919
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Brittle Cornea Syndrome 1
Joint laxity, Red hair, Dentinogenesis imperfecta OMIM:229200
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... ORPHA:79138
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Khan-Khan-Katsanis Syndrome
Short stature, Pigmentary retinopathy, Colpocephaly, Hypertonia, Neutropenia, Intrauterine growth... OMIM:618460
Gaucher Disease, Type I
Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Epistaxis, Hypersplenism, Splenomeg... OMIM:230800
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Tuberous Sclerosis Complex
Respiratory distress, Epileptic spasm, Retinal astrocytic hamartoma, Infantile spasms, Retinal ha... ORPHA:805
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Laterally curved eye... OMIM:300166
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, Micrognat... ORPHA:96334
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... ORPHA:793
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Flexion contracture, Osteoporosis... ORPHA:398069
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Neutrophilia, Overlapping toe, Severe periodontitis, Protruding tongue, Lo... ORPHA:99843
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail mo... ORPHA:1908
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... ORPHA:2912
Listeriosis
Respiratory distress, Brain abscess, Liver abscess, Ataxia, Abscess, Pneumonia, Tremor, Abnormal ... ORPHA:533
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Splenomegaly, Generalized hirsutism, Abnormality of the nail ORPHA:2348
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... ORPHA:3440
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Flexion contracture ORPHA:79243
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Hypercalcemia, Hyp... OMIM:601678
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Short phalanx of finger, Syndactyly... OMIM:263650
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... ORPHA:98795
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Apnea, Ataxia, Tremor, Seizure, Oculomotor apraxia, Agenesis of corpus cal... ORPHA:220497
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Joint hyperflexibility, Abnormal metaphysis morphology, Brachydactyly ORPHA:2655
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo... OMIM:607876
Usher Syndrome
Abnormality of retinal pigmentation, Vestibular areflexia, Ataxia, Cerebral cortical atrophy ORPHA:886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Thanatophoric Dysplasia Type 2
Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,... ORPHA:93274
Adnp Syndrome
Joint laxity, Sparse scalp hair, Smooth philtrum, Thin upper lip vermilion, Broad hallux, Sandal ... ORPHA:404448
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Pallister-Hall Syndrome
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... OMIM:146510
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna ORPHA:2491
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Limited ... OMIM:608728
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Tapered finger, Long finge... ORPHA:521445
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Titubation, Dysmetria OMIM:619405
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion co... OMIM:609945
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Short stature, Small for gestational age, Dental crowding, Delayed eruption o... OMIM:617799
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, G... OMIM:616586
Boutonneuse Fever
Leukopenia, Respiratory failure, Thrombocytopenia ORPHA:83313
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Prader-Willi Syndrome Due To Translocation
Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Hypopigme... ORPHA:177907
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Rhizomelia, Micrognathia, Postnatal growth retardation, Pie... ORPHA:263508
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Dystonia, Neuronal loss in central nervou... ORPHA:683
Perry Syndrome
Hypoventilation, Central hypoventilation, Parkinsonism, Tremor, Rigidity, Respiratory insufficien... OMIM:168605
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Smooth philtrum, Laterally extended eyebrow, Synophrys, Tented philtrum, Low anterior hairline, L... OMIM:618479
Adult Syndrome
Sparse scalp hair, Premature loss of permanent teeth, Toe syndactyly, Absent nipple, Fair hair, S... OMIM:103285
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Postnatal growth retardati... ORPHA:1435
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw, Macro... ORPHA:199276
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Poorly ossified ver... ORPHA:3003
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Short nail, Micromelia, Deep philtrum, Macular hypoplasia, Long eyelas... ORPHA:1675
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Smooth philtrum, Thin upper lip vermilion, Dental crowd... ORPHA:261323
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Protruding ton... ORPHA:98794
Williams Syndrome
Osteopenia, Micrognathia, Microdontia, Joint laxity, Increased bone mineral density, Short statur... ORPHA:904
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171430
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Joint stiffness, Carious teeth, Hypoplasia of the odontoid process, Me... OMIM:253200
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs, Multiple prenatal fr... OMIM:610682
Congenital Varicella Syndrome
Micromelia ORPHA:291
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ... ORPHA:238468
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Increased body weight, Large for gestational age ORPHA:263455
Image Syndrome
Metaphyseal dysplasia, Micromelia ORPHA:85173
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Myeloid leu... ORPHA:798
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Abnormality of retinal pigmentation, Thrombocytopenia, Optic atrophy, Hepat... ORPHA:505248
Opitz Gbbb Syndrome
Natal tooth, Short stature, Craniosynostosis, Micrognathia, Cryptorchidism, Cleft lip, Cleft pala... ORPHA:2745
Carney Complex, Type 1
Palatine myxoma, Schwannoma, Multiple lentigines, Pheochromocytoma, Red hair, Freckling, Profuse ... OMIM:160980
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Osteoporosis, Obesity, Tall stature ORPHA:91
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di... ORPHA:233
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... ORPHA:411511
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Pulmonary embolism, Hemiplegia/hemipares... ORPHA:394
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Abnormality of the dentition, Small hand, Osteoporosis, Inc... ORPHA:739
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodact... OMIM:135900
Pelviscapular Dysplasia
Short femur, Hypoplastic scapulae, Humeroradial synostosis, Elbow flexion contracture, Low poster... ORPHA:93333
Bardet-Biedl Syndrome
Pigmentary retinopathy, Short stature ORPHA:110
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Ataxia-Telangiectasia
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor... OMIM:208900
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Sandifer Syndrome
Abnormal posturing, Torticollis, Anemia ORPHA:71272
Charge Syndrome
Delayed eruption of teeth, Facial palsy, Highly arched eyebrow, Cleft upper lip, Abnormal soft pa... ORPHA:138
Menkes Disease
Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f... ORPHA:565
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Talipes equinovarus, Narrow mouth, Neonatal d... OMIM:224410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Delayed ossification of carpal bones, Obesity OMIM:618395
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Glioma, Short... ORPHA:647
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta... ORPHA:85170
Hydrolethalus
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft... ORPHA:2189
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Seizure, Colpocephaly, Pigmentary retinopathy, Agenesis of corpus callosum OMIM:309801
Cranioectodermal Dysplasia 2
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Sparse hair, Joint laxi... OMIM:613610
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Optic disc coloboma, Nail dysplasia, Short phalanx of finger, Brach... OMIM:600092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Seizure, Hypoplasia of the retina, Retinal dysplasia, Myoclonus, ... OMIM:253280
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness OMIM:277600
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Slc39A8-Cdg
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... ORPHA:468699
Restrictive Dermopathy
Osteopenia, Aplasia/Hypoplasia of the clavicles, Natal tooth, Multiple joint contractures, Campto... ORPHA:1662
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agen... OMIM:616894
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, High, nar... ORPHA:2879
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Osteoporosis, Small hand, Short foot, Downturned corners of... ORPHA:98754
Barber-Say Syndrome
Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni... ORPHA:1231
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Osteoporosis, Small hand, Short f... ORPHA:177901
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Neonatal respiratory distress, Brushfield spots, Seizure, Pigmentary retinopat... OMIM:214100
Alstrom Syndrome
Cone/cone-rod dystrophy, Short stature, Asthma, Recurrent pneumonia, Pigmentary retinopathy OMIM:203800
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Hypochloremia, Hyp... OMIM:241200
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Broad hallux, Facial palsy,... OMIM:620186
Short Stature, Microcephaly, And Endocrine Dysfunction
Tooth malposition, Sparse hair, Limb undergrowth, Clinodactyly, Lymphopenia, Sensory axonal neuro... OMIM:616541
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Astrocytoma, Short stature, Generalized hyperpigmentation, A... ORPHA:636
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Alternating Hemiplegia Of Childhood
Respiratory distress, Bilateral tonic-clonic seizure, Apnea, Ataxia, Tremor, Rigidity, Chorea, Ep... ORPHA:2131
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Split hand, Femoral bowing, A... ORPHA:1860
Geleophysic Dysplasia 3
Limited elbow movement, Limited wrist movement, Short foot, Thick vermilion border, Long philtrum... OMIM:617809
Degcags Syndrome
Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pre... OMIM:619488
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Osteoporosis, Small hand, Short foot, Downturned corners of... ORPHA:98793
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Osteoporosis, Small hand, Short foot, Downturned corners of... ORPHA:177904
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va... OMIM:264090
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Osteoporosis, Obesity OMIM:219090
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot... ORPHA:1969
Fibrochondrogenesis
Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, ... ORPHA:2021
Cornelia De Lange Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Synophrys, Low anterior hairline, Downturn... ORPHA:199
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth OMIM:300952
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Arthrogryposis Multiplex Congenita 6
Respiratory failure OMIM:619334
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Proportionate short stature, Hypoglycemic seizures, Intrauterine growth r... ORPHA:71212
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Synophrys, Hypoplastic vertebral bodies, Downturned corners of... ORPHA:3455
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Optic nerve hypoplasia, Proportionate short stature, Dysplastic corpus... ORPHA:500150
Pyruvate Carboxylase Deficiency
Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Cerebellar gliosis, Tachypnea, Abno... ORPHA:3008
Alexander Disease
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Respiratory insufficiency,... ORPHA:58
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Postnatal growth retardation, Splenopancreatic fusion, Cerebral ... OMIM:269150
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency OMIM:276950
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Short stature, Tachypnea, Cerebral atrophy, Respiratory insufficiency, Growth delay... OMIM:613658
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Sy... OMIM:619503
S-Adenosylhomocysteine Hydrolase Deficiency
Growth delay, Respiratory failure ORPHA:88618
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M... ORPHA:79430
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Natal tooth, Short stature, Dental crowding, Carious teeth, Supernumerary tooth, Ta... ORPHA:353281
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia ORPHA:79107
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of... OMIM:271665
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia, Adducted thumb, Generalized hypertrichosis, Long philtrum ORPHA:50810
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Abnormality of skin pigmentation, Hypertonia, Chorioretinal coloboma, Hyp... OMIM:619475
Peroxisome Biogenesis Disorder 4A (Zellweger)
Seizure, Respiratory failure OMIM:614862
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Becker Nevus Syndrome
Supernumerary nipple, Abnormal tibia morphology, Hypermelanotic macule, Micromelia ORPHA:64755
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Knobloch Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Seizure, Macular degeneration, Vitreoreti... ORPHA:1571
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures ORPHA:189427
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Retinitis, Hamartoma of tongue, Micrognathia, Cleft... OMIM:615948
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Sple... ORPHA:217085
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia ORPHA:1765
Wilson Disease
Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive ORPHA:905
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure ORPHA:254528
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Sple... ORPHA:217093
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Meckel Syndrome, Type 1
Accessory spleen, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Micrognathia, C... OMIM:249000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Dystonia, Short stature, Ataxia, Tremor, Chorea, Cerebral atr... OMIM:615356
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Mesomelic Dysplasia, Savarirayan Type
Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia OMIM:605274
Retinoblastoma
Abnormality of retinal pigmentation, Glioma, Subretinal pigment epithelium hemorrhage, Retinal ca... ORPHA:790
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Growth delay, Hypertonia, Intrauterine growth... ORPHA:3380
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, In... ORPHA:555874
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Mosaic Trisomy 9
Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Asplenia, Limitation of jo... ORPHA:99776
Alport Syndrome
Dyspnea, Stridor, Macular degeneration, Retinal flecks, Cough ORPHA:63
Schisis Association
Cleft palate, Unilateral cleft lip, Micromelia ORPHA:63862
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal... OMIM:606002
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... ORPHA:1934
Primrose Syndrome
Hip contracture, Short stature, Joint hypermobility, Hypoplasia of the maxilla, Narrow mouth, Fle... OMIM:259050
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Ataxia, Postnatal growth retardatio... ORPHA:699
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, Hypoplastic toenails, High, narrow pal... ORPHA:2753
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Absent eyelashes... OMIM:256520
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Generalized-onset seizure, Macular atrophy, Splenomegaly, Growth delay, Polyspl... OMIM:619418
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness OMIM:608328
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Osteoporosis, Increased body weight ORPHA:264580
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Pigmentary retinopathy OMIM:614230
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Increased body weight ORPHA:79240
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Highly arched eyebrow, Short toe, Widow's peak, Orofacial cleft, Thin vermilio... ORPHA:1519
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Myhre Syndrome
Short stature, Ataxia, Respiratory insufficiency, Birth length less than 3rd percentile, Seizure,... OMIM:139210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Joint laxity, Natal tooth, Short stature, Dental crowding, Micrognathia, Postnatal growth retarda... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Joint laxity, Natal tooth, Short stature, Dental crowding, Micrognathia, Postnatal growth retarda... ORPHA:353277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Retinal dystrophy, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ha... OMIM:263520
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinopathy, Retinal pigment epithelial mottling, Metaphyseal widening,... OMIM:219800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Anemia, Respiratory failure, C... ORPHA:340
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... ORPHA:84064
Aspartylglucosaminuria
Splenomegaly, Arthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:93
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu... OMIM:616546
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Hypop... ORPHA:163746
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Cleft maxillary alveolar ridge, Finger clinodactyly, Clinodactyly of ... ORPHA:508488
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Seizure, Stridor, Respirato... ORPHA:79404
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Narrow mouth, Optic atrophy, Macroglossia, High palate, Mesomelia, Long philtrum OMIM:613457
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Bilateral breast hypoplasia, Limb undergrowth, Clinodactyly of the 5t... ORPHA:319675
Costello Syndrome
Short stature, Pneumothorax, Respiratory insufficiency, Cerebral atrophy, Vestibular schwannoma, ... OMIM:218040
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane... ORPHA:261537
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Flexion contracture, Hyperpigmented streaks, Camptodact... OMIM:601803
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Polysplenia, Craniosynostosis, Micromelia OMIM:200995
Mitochondrial Complex I Deficiency, Nuclear Type 32
Seizure, Respiratory failure, Cerebral atrophy OMIM:618252
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane... ORPHA:261552
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
C Syndrome
Toe syndactyly, Micromelia, Micrognathia, Abnormal hair pattern, Accessory oral frenulum, Limitat... ORPHA:1308
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a... ORPHA:2036
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact... OMIM:270400
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Insulinoma
Increased body weight ORPHA:97279
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane... ORPHA:2152
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Short stature, Hyperkalemia, Testicular adrenal rest tumor, Hypochloremia, Decrease... ORPHA:90794
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... ORPHA:93271
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Persistence of primary teeth, Avascular necros... ORPHA:2044
Pallister-Hall Syndrome
Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl... ORPHA:672
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Clonus, Babinski sign, Dysmetria, Gait ataxia,... OMIM:606721
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ... ORPHA:3404
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Infantile Nephropathic Cystinosis
Growth delay, Pigmentary retinopathy ORPHA:411629
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepa... ORPHA:731
Sotos Syndrome
Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis... ORPHA:821
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... ORPHA:744
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Micrognathia, Cryptorchidism, Knee flexion contractur... OMIM:606170
Mowat-Wilson Syndrome
Delayed eruption of teeth, Short stature, Cryptorchidism, Submucous cleft hard palate, Cleft pala... OMIM:235730
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Cushing Disease
Truncal obesity, Abdominal obesity, Osteoporosis, Increased body weight ORPHA:96253
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Hardikar Syndrome
Short stature, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Growth delay, Pigmentary retinopa... OMIM:301068
Peters Plus Syndrome
Thin upper lip vermilion, Toe syndactyly, Rhizomelia, Exaggerated cupid's bow, Micromelia, Microg... ORPHA:709
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decreased body we... ORPHA:2298
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Respiratory failure, Short stature, Respiratory insufficiency OMIM:304120
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Abnormality of dental color, Retinal pigment epitheli... ORPHA:64
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clcn7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clcn7.

No publications found that use IMPC mice or data for Clcn7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Clcn7tm48684(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Clcn7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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