| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epicanthus, Cataract, Micrognathia, Epiphyseal stippling, High palate, Downslanted palpebral fiss... |
OMIM:614882 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Abnormal... |
ORPHA:101082 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Epicanthus, Sensorineural hearing impairment, Optic atrophy, Upslanted palpebral fissure, Iris cy... |
OMIM:620086 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Winchester Syndrome |
|
Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteoly... |
OMIM:277950 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis, Osteoporosis, Microc... |
ORPHA:48431 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, Non-midline clef... |
ORPHA:236 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment |
OMIM:274205 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Epicanthus, Cataract |
ORPHA:85288 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Short neck, Abnormality iri... |
ORPHA:1617 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis, EEG abnormality |
OMIM:300518 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... |
ORPHA:582 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin... |
ORPHA:231178 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, Kyphoscoliosis, Malar flattening, High, narrow palate, Hypermobility of interphalangeal... |
ORPHA:3433 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasi... |
OMIM:253000 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... |
OMIM:136300 |
| Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... |
OMIM:160565 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment |
OMIM:165300 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Posteriorly rotated ears, Kyphosis, Reduced bone mineral density, Delayed ossification ... |
OMIM:618392 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hearing impairment |
OMIM:312910 |
| Short Syndrome |
|
Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormali... |
ORPHA:3163 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyp... |
OMIM:617404 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cataract, Joint hyperflexibility, Ptosis |
ORPHA:1875 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Join... |
OMIM:253010 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Ck Syndrome |
|
Epicanthus, Dental crowding, Posteriorly rotated ears, Hyperlordosis, Almond-shaped palpebral fis... |
OMIM:300831 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
| Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Sco... |
OMIM:601382 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Hy... |
OMIM:163200 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... |
OMIM:615761 |
| Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c... |
OMIM:613684 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent me... |
OMIM:300602 |
| Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Anteverted ears, Widely-spaced incisors, Microcornea, Chorioretinal coloboma, Iri... |
OMIM:300915 |
| Hereditary Fructose Intolerance |
|
Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Micrognathia, Sensorineur... |
OMIM:215100 |
| Distal Deletion 6P |
|
Epicanthus, Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, O... |
ORPHA:96125 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sens... |
OMIM:109120 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Micrognathia, Kyphosis, Sensorineural hearing impairment, P... |
ORPHA:2479 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cataract, Camptodacty... |
ORPHA:2635 |
| Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Thick vermilion border,... |
OMIM:612713 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Dysplastic corpus callosum, Abnormal thalamus morphology, Hypocalcemia |
ORPHA:557003 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, High palate, Scoliosis |
OMIM:611225 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, High palate, Narrow mouth, Retrog... |
ORPHA:2528 |
| Hypomelanosis Of Ito |
|
Epicanthus, Cataract, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis, I... |
OMIM:300337 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita... |
OMIM:609384 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Epicanthus, Kyphoscoliosis, Micrognathia, Grayish enamel, High, narrow... |
ORPHA:2980 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Sensorineural hearing impairment, Prelingual sensorineural hea... |
ORPHA:436174 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn... |
ORPHA:166108 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Short neck, Open bit... |
ORPHA:61 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Hall-Riggs Syndrome |
|
Epicanthus, Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Irre... |
OMIM:234250 |
| Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Cataract, Abnormal de... |
ORPHA:2791 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Hi... |
OMIM:617523 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Sparse lateral eyebrow |
ORPHA:170 |
| Usher Syndrome |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin... |
ORPHA:886 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Cataract, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary central... |
OMIM:608227 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Persistence of primary teeth, Dental malocclusion, Optic atrophy, Ectopi... |
OMIM:618727 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Thick eyebrow, EEG with focal spike waves, Posteriorl... |
OMIM:619229 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, EEG abnormality, Yellow-brown dis... |
ORPHA:1946 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ... |
OMIM:193700 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Achilles tendon contracture, Dental malocclusion,... |
OMIM:619719 |
| Duane Retraction Syndrome |
|
Central heterochromia, Short neck, Micrognathia, Abnormal pupil morphology, Abnormal form of the ... |
ORPHA:233 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Irregular dentition, Optic disc pallor, Cataract, Abnormal auditory evoked potent... |
OMIM:619260 |
| Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, ... |
OMIM:277720 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Elevated circulating pristanic acid concentration |
OMIM:613724 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Epicanthus, Posteriorly rotated ears, Cleft palate, Thin vermilion border, Long ey... |
OMIM:615502 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2409 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bone... |
ORPHA:2617 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Conductive hearing impairment, Abnormality of dental color, Aplasia/... |
ORPHA:1006 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Highly arched eyebrow, Micrognathia, Kyphosis, Deep philtrum, Upslante... |
OMIM:615834 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... |
OMIM:609115 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb... |
OMIM:600175 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral... |
OMIM:271530 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the l... |
ORPHA:85194 |
| Linear Verrucous Nevus Syndrome |
|
Astrocytoma, Hypophosphatemia |
ORPHA:2611 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Short neck, Micrognathia, Kyphosis, Facial diplegia, High palate, Scoliosis, Low-set ea... |
OMIM:611890 |
| Proteus-Like Syndrome |
|
Mandibular prognathia, Cataract, Open bite, Abnormal pupil morphology, Hyperostosis, Limbal dermo... |
ORPHA:2969 |
| Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Kyphosis, Syno... |
ORPHA:2471 |
| Baralle-Macken Syndrome |
|
Cataract, Kyphosis, High, narrow palate, Upslanted palpebral fissure, Dystonia |
OMIM:619255 |
| Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... |
OMIM:141300 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Bethlem Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxity, Flexion contra... |
OMIM:616471 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck |
ORPHA:2744 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia |
ORPHA:89937 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Elevated circulating creatine kinase concentration, Cervical kyphosis, Short neck, Micrognathia, ... |
OMIM:255800 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis |
OMIM:175500 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Erythrodontia, Loss of eyelashes, Osteolysis, Corneal scarring, Conju... |
OMIM:263700 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Epicanthus, Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the an... |
ORPHA:2489 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Accessory oral frenulum, Ptosis |
ORPHA:1373 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Elevated circulating creatine kinase concentration, Hypomagnesemia, Bilateral ptosis,... |
OMIM:619743 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, S... |
OMIM:615704 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Chorioretinal dystrophy, Micrognathia, H... |
OMIM:216550 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis |
OMIM:244460 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Kyphosis, Thick lower lip ver... |
OMIM:619797 |
| Adenohypophysitis |
|
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:95512 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip a... |
ORPHA:1473 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:40 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Panhypophysitis |
|
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:95513 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Astigmatism, Widely... |
OMIM:618067 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Thin upper lip vermilion, Cataract, Highly arched eyebrow, Long philtrum, Macrotia, Ptosis |
OMIM:616154 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
| Woolly Hair Nevus |
|
Widely-spaced incisors, Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary ... |
ORPHA:79414 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... |
OMIM:259450 |
| Flynn-Aird Syndrome |
|
Cataract, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, EEG abnormality, Scoliosis, Progre... |
ORPHA:2047 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcorn... |
ORPHA:3374 |
| Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
| Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Flexion contracture ... |
ORPHA:2712 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morph... |
ORPHA:1764 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Abn... |
ORPHA:534 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Wagr Syndrome |
|
Cataract, Micrognathia, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion, Scoliosis, P... |
ORPHA:893 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Synophrys, Wide mouth, Short philtrum,... |
ORPHA:2429 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Uplifted earlobe, Kyphosis, Narrow palate, Short upper lip, ... |
ORPHA:364028 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Nance-Horan Syndrome |
|
Diastema, Macrotia, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cata... |
OMIM:302350 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Cataract, Developmental cataract |
OMIM:613076 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Oligodontia, Everted lower lip vermilion, Scoliosis, Downslanted palpebral fissures, An... |
ORPHA:276630 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Narrow palpebral fissure, EEG abnormality, Scoliosis, B... |
OMIM:301900 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Cataract, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stip... |
ORPHA:177 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Micrognathia, Abnormal pupil morphology, Abnormal form of the ver... |
ORPHA:52 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Filippi Syndrome |
|
Optic atrophy, Thin vermilion border, Short philtrum, Hypodontia, Dystonia, Microdontia, Serrated... |
OMIM:272440 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Cataract, Foot joint contracture, Del... |
ORPHA:90321 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Focal T2 hyperintense... |
OMIM:619046 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Highly arched eyebrow, Micrognathia, Bilateral ptosis, Kyphosis, Retrognathia, Upslan... |
ORPHA:352490 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Cataract, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth... |
OMIM:616108 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Jalili Syndrome |
|
Abnormality of dental color, Optic atrophy, Abnormal dental enamel morphology, Amelogenesis imper... |
ORPHA:1873 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Delayed proximal ... |
ORPHA:93296 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Increased blood urea nitrogen, High palate, Hypomagnesemia, Joint hyperm... |
OMIM:223360 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Kyphosis, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:101075 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Kypho... |
ORPHA:137834 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Cataract, Increased bone mineral density, Ovoid vertebral bodies, Short neck, Microgn... |
ORPHA:163649 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp... |
ORPHA:75840 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Deep philtrum, Multifocal epileptiform discharges, Thick vermilion border, E... |
ORPHA:505652 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Micrognathia, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Widel... |
OMIM:619694 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Synophrys, Flexion contracture, Thick lower lip vermilion, Gingival overgrowth, Long ey... |
OMIM:618658 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Lim... |
OMIM:300280 |
| Marshall Syndrome |
|
Epicanthus, Cataract, Malar flattening, Lens luxation, Micrognathia, Absent frontal sinuses, Sens... |
OMIM:154780 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Scoliosis, Hearing impairment |
OMIM:617087 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Hypernatremia, Neonata... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Hypernatremia, Neonata... |
ORPHA:529799 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Peters anomaly, Cl... |
OMIM:613150 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Talon cusp, Optic a... |
OMIM:605282 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma, Hearing impairment |
OMIM:120433 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Spinocerebellar Ataxia With Epilepsy |
|
Hyperalaninemia, Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Epicanthus, Limited wrist extension, Kyphosis, Protruding ear, Keratoglobus, Astigma... |
OMIM:108145 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Sialidosis Type 2 |
|
Corneal opacity, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Hearing impairment |
ORPHA:87876 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Cataract, Carious teeth, Hemive... |
ORPHA:377 |
| Autosomal Recessive Stickler Syndrome |
|
Cataract, Micrognathia, Sensorineural hearing impairment, Cleft palate, Irregular vertebral endpl... |
ORPHA:250984 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... |
ORPHA:2114 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cataract, Abnormal dental morphology, Abnormal dental enam... |
ORPHA:1458 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... |
OMIM:602400 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis... |
OMIM:106210 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... |
ORPHA:666 |
| Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification... |
OMIM:230650 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
| Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Micrognathia, Short neck, Kyphosis, High palate, Low-set ears, Camptoda... |
OMIM:618393 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis, Hearing impairment |
ORPHA:101078 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Kyphoscoliosis, Micrognathia, Carious teeth, Sensorineural h... |
OMIM:214150 |
| Gitelman Syndrome |
|
Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Tinnitus |
ORPHA:358 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cataract, Increased bone mineral density, Facial palsy, Po... |
ORPHA:2780 |
| Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scolio... |
OMIM:252605 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Epicanthus, Scoliosis |
OMIM:300434 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration, Loss of eyelashes, Osteo... |
ORPHA:95159 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Mic... |
OMIM:620157 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Optic atrophy, EEG ab... |
ORPHA:544469 |
| Renpenning Syndrome |
|
Mandibular prognathia, Epicanthus, Cataract, Macrodontia, Joint stiffness, High, narrow palate, S... |
ORPHA:3242 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermilion, Exaggerated startl... |
ORPHA:438216 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia |
ORPHA:251393 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials,... |
OMIM:125250 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Cataract, Abnormal dental morpholog... |
ORPHA:568 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... |
OMIM:602482 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Cataract, Hypoplasia of the odontoid process, Platyspondyly, Ma... |
ORPHA:85172 |
| East Syndrome |
|
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... |
ORPHA:199343 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Micrognathia, Hyperlordosis, Furrowed tongue, Abnorm... |
ORPHA:1387 |
| Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation, Nonketotic hyperglycinemia, Hepatosplenome... |
ORPHA:135 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Synophrys, Cleft palate, Protruding ear, Short philtrum, Scoliosis |
ORPHA:85317 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Hearing impairment, Kyphosis, Flexion c... |
ORPHA:90322 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis |
ORPHA:2598 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Gliosis |
ORPHA:88619 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cataract, Corneal opacity, Chorioret... |
OMIM:152950 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Synophrys, Deep philtrum, Sensorineural hearing impairment, Gingival overgr... |
OMIM:616455 |
| Cerebellofaciodental Syndrome |
|
Cataract, Short neck, Sparse eyebrow, Dental malocclusion, Taurodontia, Scoliosis, Low-set ears, ... |
OMIM:616202 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... |
ORPHA:2771 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Kyphosis, Hand tremor, Scoliosis, Head tremor, Hearing impairment |
OMIM:614409 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating ... |
OMIM:270800 |
| Jalili Syndrome |
|
Carious teeth, Optic disc pallor, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft pala... |
ORPHA:90653 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Cataract, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspondyly, ... |
OMIM:618958 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, High palate, Sc... |
ORPHA:178148 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Zimmermann-Laband Syndrome |
|
Telecanthus, Cataract, Joint hypermobility, Short neck, Micrognathia, Supernumerary tooth, Sensor... |
ORPHA:3473 |
| Sjƶgren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Corneal erosion, Scoliosis |
ORPHA:816 |
| Wieacker-Wolff Syndrome |
|
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Congenital foot contra... |
OMIM:314580 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Mi... |
OMIM:222765 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Epicanthus, Narrow mouth, Sensorineural hearing impairment, Spina bifi... |
OMIM:235510 |
| Alg2-Cdg |
|
Epicanthus, Cataract, Hypsarrhythmia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:79326 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Scoliosis, Dystonia |
OMIM:616756 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Narrow palate, Cleft pala... |
OMIM:618223 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Stickler Syndrome, Type I |
|
Cataract, Joint stiffness, Micrognathia, Kyphosis, Osteoarthritis, Submucous cleft hard palate, P... |
OMIM:108300 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ach... |
OMIM:615290 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
| Cerebellar-Facial-Dental Syndrome |
|
Cataract, Foot joint contracture, Short neck, Sparse eyebrow, Micrognathia, Dental malocclusion, ... |
ORPHA:444072 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Micrognathia, EEG abnormality, Downslanted palpebral fissures |
ORPHA:3173 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
| 4Q21 Microdeletion Syndrome |
|
Hearing impairment, Short neck, Abnormality of the dentition, Kyphosis, Synophrys, Tremor, Downtu... |
ORPHA:238750 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Micrognathia, Cupped ear, Hypoplasia of the iris, Large fle... |
OMIM:249310 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration, Loss of eyelashes, Osteo... |
ORPHA:79277 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, EEG abnormali... |
ORPHA:1858 |
| Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Abnormality of the philtrum, Recurrent fractures, Camptodactyly of finger, Short neck... |
ORPHA:3409 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... |
OMIM:130060 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sens... |
OMIM:617306 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Long philtrum,... |
OMIM:615877 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Kyphosis, Sensorineural hearing i... |
ORPHA:812 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
| Jaberi-Elahi Syndrome |
|
Cataract, Sparse eyelashes, Dystonia, Joint stiffness, Sparse eyebrow, Kyphosis, Tremor, Optic at... |
OMIM:617988 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Mend Syndrome |
|
Telecanthus, Sacral dimple, Cataract, Abnormal auditory evoked potentials, Micrognathia, Asymmetr... |
ORPHA:401973 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnorm... |
ORPHA:35173 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Coarse metaphyseal trabecularization, Kyphosis, Synophrys,... |
ORPHA:3219 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Generalized dystonia, Kyphosis, Sensorineural hearing impairment, Orofacial cleft, Macr... |
ORPHA:79107 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Ptosis |
ORPHA:3454 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Trisomy 13 |
|
Cataract, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Kyphosis, ... |
ORPHA:3378 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Micrognathia, Short neck, Downturned corners of mouth, Platyspondyly, Short philtrum, L... |
ORPHA:93267 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Microcornea, Conducti... |
ORPHA:2710 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital s... |
ORPHA:45358 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Synophrys, Reduced bone mineral density,... |
ORPHA:2983 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, W... |
OMIM:136760 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Epicanthus, Cataract, Sensorineural hearing impairment, Hypsarrhythmia, Upslanted p... |
OMIM:607906 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short neck, Diap... |
ORPHA:94089 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Short neck, Camptodac... |
ORPHA:284160 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Ptosis, Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Macrodontia of permanent maxillary central... |
ORPHA:466722 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Cataract, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Cleft palate, Platyspon... |
ORPHA:1856 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee... |
OMIM:313420 |
| Usher Syndrome Type 1 |
|
Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m... |
ORPHA:231169 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
| Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... |
ORPHA:193 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Short neck, Micrognathia, Kyphosis, Scoliosis, Mic... |
ORPHA:3191 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Elevated circulating creatine kinase concentration, Ankle flexion contract... |
OMIM:619040 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Hearing impairment, Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scolio... |
OMIM:610743 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Dystonia, Hearing impairment |
OMIM:618237 |
| Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... |
OMIM:310600 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Cleft upper lip, Sensorineural... |
OMIM:607371 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Short neck, Osteoporosis, Enamel hypoplasia |
OMIM:612463 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Abnormal dental enamel morphology, Abnormality of the den... |
ORPHA:96169 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Kyphosis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:99014 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... |
OMIM:601455 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:428 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Scoliosis, Bifid uvula, Thick eyebrow |
OMIM:617768 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Non-midline cleft lip, Upper eyelid co... |
ORPHA:1791 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Limb dystonia, Kyphosis, Hearing impairment, Joint hyperflexibility |
ORPHA:319199 |
| Distal Duplication 6P |
|
Sacral dimple, Cataract, Short neck, Abnormal eyelash morphology, Micrognathia, Aplasia/Hypoplasi... |
ORPHA:1745 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Cataract, Hypsarrhythmia, Upslanted palpebral fissure, Wide mouth, Wide... |
OMIM:619877 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macrotia, Maxi... |
ORPHA:1193 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Astigmatism, Hypomagnesemia |
OMIM:248190 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Cataract, Osteomyelitis, Sensorine... |
OMIM:162400 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, High palate, Wi... |
ORPHA:192 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Short neck, Craniosynostosis, Abnormality of the dentition, Deep philtrum... |
ORPHA:251038 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Stickler Syndrome, Type Ii |
|
Cataract, Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin seque... |
OMIM:604841 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Abnormal pinna morphology, Kyphoscoliosis, Short neck, Sparse eyebrow... |
OMIM:302960 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyph... |
OMIM:618443 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Aplasia/Hypoplasia of the lens, Hypoplasia of the od... |
ORPHA:485 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... |
ORPHA:94093 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Cataract, Joint stiffness, Osteoarthritis, Platyspondyly |
ORPHA:1345 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Abnormal thalamus morphology, Lateral ventricle dilatation |
ORPHA:300570 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Cataract, Elevated circulating creatine kinase concentration, Optic nerve h... |
ORPHA:370959 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca... |
ORPHA:36913 |
| X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:163937 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... |
OMIM:180500 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy, Low-set ears, Scoliosis, Ptosis |
OMIM:619527 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ... |
ORPHA:2522 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Cataract, Posteriorly rotated ears, Elevated circulating hexacosanoic acid concentration, Epiphys... |
OMIM:614872 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Tongue atrophy, Sensor... |
ORPHA:99949 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Abnormal pinna morphology, Delayed eruption of primary teeth, Abnormal aud... |
OMIM:133540 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Corneal opacity, Exaggerated cupid's bow, Small earlobe,... |
ORPHA:364577 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Elevated circulating creatine kinase concentration, Hyperlordosis, Cranial nerve compre... |
ORPHA:52430 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia, Cataract, Downslanted palpebral fissures |
ORPHA:2643 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... |
ORPHA:261318 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Cenani-Lenz Syndrome |
|
Ptosis, Cataract, Abnormal dental enamel morphology, Hearing impairment, High, narrow palate, Abn... |
ORPHA:3258 |
| Trisomy 17P |
|
Smooth philtrum, Cataract, Hearing impairment, Short neck, Micrognathia, Flexion contracture, Oro... |
ORPHA:261290 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Micrognathia, Delayed epiphyseal ossification, Flexion contrac... |
OMIM:616007 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sm... |
OMIM:181270 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... |
ORPHA:2916 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of f... |
ORPHA:391474 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Japanese Encephalitis |
|
Hyponatremia, Focal T2 hyperintense thalamic lesion, Neutrophilia, Abnormal thalamus morphology |
ORPHA:79139 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Sy... |
OMIM:619503 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Punctate vertebral calcifications, Optic atrophy, Macroglossia, Epiphyseal ... |
ORPHA:1914 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
| Miller Fisher Syndrome |
|
Ptosis, Facial palsy, Mydriasis, Anisocoria, EEG with generalized slow activity |
ORPHA:98919 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Bilateral pt... |
OMIM:620351 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Short neck, Micrognathia, Microcornea, High p... |
ORPHA:800 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Abnormal thalamus morphology, Microcytic anemia |
ORPHA:2959 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Epicanthus, Dental crowding, Micrognathia, Tremor, Kyphosis, Synophrys,... |
OMIM:617061 |
| Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph... |
ORPHA:171436 |
| Myopathy, Centronuclear, 2 |
|
Facial palsy, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Ptosis |
OMIM:255200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Synophrys, Protruding ear, Scoliosis |
OMIM:300861 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Resting tremor, Ab... |
ORPHA:909 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Joint contracture, Cataract, Elevated circulating creatine kinase concentration, Ptosis |
OMIM:615351 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Tented upper lip vermilion, Uplifted earlobe, Kyphosis, Cleft palate, Furro... |
OMIM:616449 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Cataract, Short neck, Osteoporosis, Hyperphosphatemia, Hypocalcemia, H... |
OMIM:612462 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Kyphosis, Elbow flexion contracture, Elevated circulating cr... |
OMIM:618138 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Epicanthus, Cataract, Short neck, Cleft lip, Deep philtrum, Cleft palate, Prot... |
OMIM:618571 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Kyphosis, High palate, Short philtrum, Low-set ears, Macrotia, Downslanted palpebral ... |
OMIM:615433 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Facial palsy,... |
OMIM:615084 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cataract, Exaggerated cupid's bow, Highly arched eyebrow, Synophrys, Long eyelashes, Widely space... |
OMIM:619286 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Hip osteoart... |
OMIM:313400 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... |
OMIM:251750 |
| Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Kyphosis, Protrud... |
ORPHA:261144 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Epicanthus, Hyperlordosis, Micrognathia, Synophrys, Dental malocclusion... |
ORPHA:73223 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Conductive ... |
OMIM:102500 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Downslanted palpebral fissures |
OMIM:618512 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Developmental cataract, Hearing ... |
OMIM:610756 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Carious teeth, Conjunctivitis, Enamel hypo... |
OMIM:612843 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atr... |
ORPHA:496790 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Cataract, Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor... |
ORPHA:99956 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
| Pearson Syndrome |
|
Cataract, Median cleft lip and palate, Hearing impairment, Hypomagnesemia, Corneal stromal edema,... |
ORPHA:699 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior... |
OMIM:601552 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Kyphosis, ... |
OMIM:617190 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Torticollis, Dental crowding, Delayed eruption of primary teeth, Microg... |
OMIM:609029 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased skull ossif... |
OMIM:618476 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Cataract, Sensorineural hearing impairment, Optic atrophy, EEG... |
ORPHA:44 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Abnormal circulating creatine kinase concentration... |
OMIM:618484 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Cataract, Hyperlordosis |
ORPHA:3085 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
| Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... |
ORPHA:628 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Platyspondyly, Lens subluxation, Scoli... |
ORPHA:85167 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Upper lip pit, Abnormal pinna morphology, Conductive... |
ORPHA:1297 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormality of the dentition, Scoliosis, Joint stiffness |
ORPHA:1548 |
| Oculoauricular Syndrome |
|
Posterior embryotoxon, Cataract, Short mandibular rami, Sclerocornea, Absent earlobe, Chorioretin... |
OMIM:612109 |
| Harrod Syndrome |
|
Cataract, Kyphosis, Dental malocclusion, Protruding ear, Joint hyperflexibility, High palate, Sco... |
ORPHA:2115 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... |
OMIM:606612 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Cataract, Short neck, Osteoporosis, Hyperphosphatemia, Subcutaneous os... |
OMIM:103580 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,... |
ORPHA:90658 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Epicanthus, Cataract, Telecanthus, Micrognathia, Abnormality of the dentition, Sensorineural hear... |
ORPHA:85321 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Downturned corners of mo... |
ORPHA:955 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnorm... |
OMIM:612394 |
| Cardiofaciocutaneous Syndrome 4 |
|
Joint laxity, Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Cataract, Optic nerve hy... |
OMIM:615280 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... |
OMIM:612780 |
| Schaaf-Yang Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Kyphosis, Flexion contracture, Scoliosis, Cam... |
OMIM:615547 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Decreased circulating ferritin concentration, Abnormal thalamic MRI sign... |
ORPHA:157846 |
| Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Micrognathia, Flexion contracture, Optic atrophy, Narrow palate, Develo... |
OMIM:614222 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion ... |
OMIM:254090 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Cataract, Abnormal pinna morphology, Delayed eruption of ... |
OMIM:216400 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hy... |
OMIM:618183 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Posteriorly rotated ears, Facial palsy, Short neck, Kyphosis,... |
OMIM:301041 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Joint stiffness, Hyp... |
OMIM:608328 |
| Knobloch Syndrome 1 |
|
Optic disc pallor, Epicanthus, Telecanthus, Band keratopathy, Chorioretinal atrophy, Developmenta... |
OMIM:267750 |
| Desbuquois Dysplasia 1 |
|
Joint laxity, Microretrognathia, Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Ost... |
OMIM:251450 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Microcornea, High palate, Microdontia, Absent eyebrow, Under... |
OMIM:268400 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Kyphoscoliosis, Cleft u... |
OMIM:601701 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Abnormal size of the palpebral fissures, Macrodontia, High, narrow pal... |
ORPHA:3214 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Mic... |
OMIM:620155 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Sparse lateral eyebrow |
OMIM:614564 |
| Neu-Laxova Syndrome |
|
Osteopenia, Abnormal eyelid morphology, Micrognathia, Flexion contracture, Opisthotonus, Pterygiu... |
ORPHA:2671 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Cataract, Elevated circulating creatine kinase concentration, Facial palsy, Lagophtha... |
OMIM:254940 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly |
ORPHA:309155 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Camptodactyly of finger, Short neck, Open bite, Kyphosis, Synophrys, Thick lower lip ... |
ORPHA:85293 |
| Trisomy 10P |
|
Epicanthus, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, EEG with... |
ORPHA:171929 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... |
ORPHA:79102 |
| Marinesco-Sjogren Syndrome |
|
Elevated circulating creatine kinase concentration, Kyphosis, Flexion contracture, Developmental ... |
OMIM:248800 |
| Srd5A3-Cdg |
|
Cataract, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Oligodontia, Hearing impairment |
ORPHA:324737 |
| Sandhoff Disease |
|
Kyphosis, Hearing impairment |
ORPHA:796 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Abnormality of the vertebral column, Hearing impairment, Cataract |
OMIM:302950 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Distal Triplication 15Q |
|
Telecanthus, Corneal dystrophy, Craniosynostosis, Micrognathia, Kyphosis, Sensorineural hearing i... |
ORPHA:314588 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Calcification of the auricular cartilage, Kyphosis, Synophrys, Flexion... |
ORPHA:3042 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, ... |
OMIM:615381 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Osteomyelitis, Truncal titubation, Kyphosis, Abnormal sensory nerve conduction velocity... |
ORPHA:88628 |
| Monilethrix |
|
Abnormal eyelash morphology, Abnormal eyebrow morphology, Cataract, Abnormality of the dentition |
ORPHA:573 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Kyphosis, Aplasia/Hypoplasia of the earlobes, Up... |
ORPHA:3082 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Cataract, Malar prominence, Optic atrophy, Wide mouth, Joint hyperflexibil... |
ORPHA:2715 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Choreoathetosis, High palate, Chorio... |
OMIM:234100 |
| Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Total... |
OMIM:600501 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Hearing impairment, Optic neuropathy, Increased intervertebral space, Thick lower lip... |
OMIM:619727 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, High palate, Lambdoi... |
OMIM:616294 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Anisocoria, Narrow palpebral fissure, High palate, Scoliosis, ... |
OMIM:618653 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Smooth philtrum, Epicanthus, Hearing impairment, Abnormality of the dentition, Kyph... |
ORPHA:94065 |
| Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity, Gliosis, Neutropenia, Hyperalaninemia, Agenesis of corpus... |
ORPHA:506 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostos... |
OMIM:259720 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis, Ptosis |
ORPHA:254509 |
| Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Pancytopenia, Elevated circulating growth hormone ... |
ORPHA:562 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, High palate, Conductive hearing impairment, Vertebral ... |
OMIM:130720 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Kyphosis, Protruding ear, Upslanted ... |
ORPHA:261250 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Sensorineural hearing... |
OMIM:612674 |
| Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Micrognathia, Brushfiel... |
ORPHA:912 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, High palate, Megalocornea, Bifid uvu... |
OMIM:211380 |
| 19P13.12 Microdeletion Syndrome |
|
Epicanthus, Craniosynostosis, Short neck, External ear malformation, Kyphosis, Hyperlipidemia, Sy... |
ORPHA:254346 |
| Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Iris hypopigmentation, Vertebral fusion, Cleft... |
OMIM:610443 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... |
ORPHA:414 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Ptosis, Orthostatic hypotension, Anisocoria, Downturned corners of mouth, Short philtrum, Hearing... |
OMIM:615510 |
| Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Joint stif... |
OMIM:253220 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, ... |
OMIM:259770 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Short neck, ... |
ORPHA:98863 |
| Ruvalcaba Syndrome |
|
Dental crowding, Kyphosis, Downslanted palpebral fissures, Scoliosis, Limited elbow extension |
OMIM:180870 |
| Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis, Ptosis |
ORPHA:178478 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... |
ORPHA:1798 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Dental crowding, Hypercalcemia, Micrognathia, Abnormality of the dentition, Kyphosis,... |
ORPHA:476126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi... |
OMIM:619194 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Thick vermilion border, Macrodontia of permanent maxillary central ... |
OMIM:620114 |
| Intestinal Botulism |
|
Mydriasis, Ptosis |
ORPHA:178481 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Short neck, Micrognathia, Sensorineu... |
OMIM:614230 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Limitation of joint mobility, Flexion contractur... |
ORPHA:1545 |
| Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R... |
ORPHA:828 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Abnormality ... |
ORPHA:861 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Rickets, Corneal crystals, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalem... |
OMIM:219800 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... |
OMIM:156530 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Microdon... |
ORPHA:363611 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Ptosis |
ORPHA:230800 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Conjunctivitis, Microdontia, Corneal perforation, Hypop... |
OMIM:149730 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Cataract, Ectopia lentis, Joint stiffness, Hypoplasia of the maxilla, Micro... |
OMIM:277600 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, High, narrow palate, Leukocoria, Cleft palate, Thickened helices, Macrotia, Joint hyper... |
ORPHA:2714 |
| Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Kyphosis, Lens subluxation, Scoli... |
OMIM:609008 |
| Fibrous Dysplasia Of Bone |
|
Elevated circulating growth hormone concentration, Hypercalcemia, Hyperpituitarism, Hypophosphatemia |
ORPHA:249 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalce... |
OMIM:241410 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Oculogyric crisis, Hyperphenylalaninemia, Tremor, A... |
ORPHA:1578 |
| Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:615108 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Cario... |
OMIM:164200 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Hurler Syndrome |
|
Corneal opacity, Short neck, Joint stiffness, Bilateral ptosis, Hypoplasia of the odontoid proces... |
OMIM:607014 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Bilateral ptosis, Sensorineural hearing impairment, Optic at... |
ORPHA:1215 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal art... |
OMIM:609128 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D... |
ORPHA:37042 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Posteriorly rotated ears, Short ne... |
ORPHA:1427 |
| Cutis Marmorata Telangiectatica Congenita |
|
Micrognathia, Leukocoria, Orofacial cleft, Reduced bone mineral density, Scoliosis |
ORPHA:1556 |
| Marden-Walker Syndrome |
|
Epicanthus, Short neck, Micrognathia, Kyphosis, High, narrow palate, Narrow mouth, Cleft palate, ... |
OMIM:248700 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98853 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, High palate, ... |
OMIM:249420 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Optic nerve dysplasia, Cle... |
OMIM:214110 |
| Doors Syndrome |
|
Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal... |
ORPHA:79500 |
| Hypomagnesemia 3, Renal |
|
Astigmatism, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Camptodactyly of finger, Posteriorly rotated ears, Kyphosis, Narrow mout... |
ORPHA:2215 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Hydroxyprolinemia, Ank... |
OMIM:239000 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cle... |
ORPHA:77300 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, Synophrys, Deep philtrum... |
ORPHA:251014 |
| Kniest Dysplasia |
|
Hip contracture, Cataract, Short neck, Conductive hearing impairment, Delayed epiphyseal ossifica... |
OMIM:156550 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Thick lower lip vermili... |
ORPHA:583 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Micrognathia, Posterior subcapsular cataract, Elbow flexion co... |
OMIM:616200 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Everted upper lip vermilion, Posteriorly rotated ears, Camptodactyly of fin... |
OMIM:619951 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Generalized dystonia, Corneal opacity, Camptodactyly of finger, Dystonia, ... |
ORPHA:354 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Cataract, Abnormality of the dentition, Absent eyelashes, Hyperlipid... |
ORPHA:90153 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Abnormality iris morphology, Cleft palate, Upslanted palpebral fissu... |
ORPHA:250999 |
| Trichinellosis |
|
Facial palsy, Trismus, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjunctival hyperem... |
ORPHA:863 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Micrognathia, Tremor, Flexion contracture, Hypsarrhythmia, Hypoproteinemia |
OMIM:608093 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ectropion, Sensorineural hearing impairment, Limitation of joint mobil... |
ORPHA:2719 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Anodontia, S... |
ORPHA:90652 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, ... |
OMIM:211900 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Long uvula, Kyphoscoliosis, ... |
ORPHA:536532 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibil... |
OMIM:166220 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil... |
OMIM:261540 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Long eyebrows, Cleft upper lip, Op... |
OMIM:201180 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2050 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi... |
ORPHA:352447 |
| Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:615109 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t... |
OMIM:613195 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola... |
ORPHA:2751 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Conjunctivitis, Short philtr... |
OMIM:616268 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
| Down Syndrome |
|
Joint laxity, Epicanthus, Cataract, Aganglionic megacolon, Short neck, Protruding tongue, Abnorma... |
ORPHA:870 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Gliosis, Abnormal thalamic MRI signal intensity, Hepatosplen... |
ORPHA:845 |
| Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
| 3C Syndrome |
|
Short neck, Micrognathia, Kyphosis, High, narrow palate, Hemivertebrae, Optic atrophy, Orofacial ... |
ORPHA:7 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| 2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, High palate, Facial palsy, Sparse eyebrow, EEG abnormality, Scoliosis, Narrow mou... |
ORPHA:261349 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Cataract, Odontogenic keratocysts of the jaw, Short neck, ... |
ORPHA:77301 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Sparse ey... |
ORPHA:464738 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Dystonia, Joint hyperflexibility |
OMIM:614898 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
| Lathosterolosis |
|
Thick upper lip vermilion, Epicanthus, Cataract, Lumbosacral meningocele, Micrognathia, Conductiv... |
OMIM:607330 |
| Wound Botulism |
|
Mydriasis, Ptosis |
ORPHA:178475 |
| Short Syndrome |
|
Joint laxity, Delayed eruption of teeth, Telecanthus, Cataract, Rieger anomaly, Micrognathia, Sen... |
OMIM:269880 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Carious teeth, Kyphosis, Sensorineural hearing impairment, Joint contrac... |
ORPHA:1883 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Joint stiffness, Micrognathia, Kyphosis, Optic atrop... |
ORPHA:2510 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... |
OMIM:609136 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cataract, Posteriorly rotated ears, Prominent ear helix, Developmental glaucoma, Flex... |
OMIM:614438 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Cataract, Posteriorly rotated ears, Hearing impairment, Narrow mouth, C... |
OMIM:601353 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Low-set ears, An... |
OMIM:612469 |
| Nail-Patella Syndrome |
|
Back pain, Keratoconus, Lester's sign, Lumbar hyperlordosis, Cataract, Cleft upper lip, Sensorine... |
OMIM:161200 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, EEG with abnormally slow frequencies, Kyphosis, Elbow fle... |
OMIM:618493 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Ost... |
OMIM:619718 |
| Marshall Syndrome |
|
Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Micrognathia, Osteoarthritis, Hypopla... |
ORPHA:560 |
| Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo... |
ORPHA:2655 |
| Ruvalcaba Syndrome |
|
Dental crowding, Kyphosis, Thin vermilion border, Synostosis of carpal bones, Scoliosis, Narrow m... |
ORPHA:3121 |
| Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Short neck, Kyphosis, Limitation of joint mobility, Abnormality of the tongue, Abno... |
ORPHA:3098 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ptosis, Facial palsy, Abnormal cranial nerve morpholog... |
ORPHA:79138 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Cataract, Micrognathia, Short neck, Non-midline cleft lip, Cle... |
ORPHA:3376 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, S... |
ORPHA:280 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Microcornea, Eyelid col... |
OMIM:229400 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Sensorineural hearing impairment, Optic ... |
ORPHA:79330 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Short neck, Tremor, High, narrow palate, Synophrys, Prominent protruding coccyx, Prot... |
OMIM:300966 |
| Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Hypoplasi... |
ORPHA:558 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation, Scoliosis |
ORPHA:171844 |
| Atelis Syndrome 2 |
|
Epicanthus, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Developme... |
OMIM:620185 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Mandibular prognathia, Abnormal pinna morphology, Tremor, Kyphosis, Thick lower lip... |
OMIM:300354 |
| Codas Syndrome |
|
Delayed eruption of teeth, Cataract, Hypoplasia of the odontoid process, Generalized joint laxity... |
OMIM:600373 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the dentition, Kyph... |
OMIM:203800 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum |
ORPHA:289483 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Epicanthus, Kyphosis, Synophrys, Bilateral ptosis, Bilateral camptodact... |
OMIM:619557 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis |
OMIM:300676 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Scoliosis, Dystonia |
OMIM:617435 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Inhalational Botulism |
|
Mydriasis, Ptosis |
ORPHA:254504 |
| Cdags Syndrome |
|
Ptosis, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Sensorineural hear... |
OMIM:603116 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Camptodactyly of finger, Joint stiffness, Micrognathia, Kyphosis, Contracture of... |
OMIM:607015 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Low-set ears |
OMIM:620062 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Hearing impairment, Joint stiffness, ... |
ORPHA:2588 |
| Witteveen-Kolk Syndrome |
|
Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, Short philtrum, High palate, S... |
OMIM:613406 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... |
ORPHA:98855 |
| 3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increase... |
ORPHA:2616 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, ... |
ORPHA:1005 |
| Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Orofacial cleft, Microcornea, Abnormality of the maxi... |
ORPHA:141099 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Downturned corners of mouth, Scoliosis, Dystonia |
ORPHA:464282 |
| Atypical Rett Syndrome |
|
Tremor, Kyphosis, Pill-rolling tremor, EEG abnormality, Scoliosis, Dystonia |
ORPHA:3095 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cataract, Septo-optic dysplasia, Micrognathia, Optic atrophy, Orof... |
ORPHA:3301 |
| Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
| AymƩ-Gripp Syndrome |
|
Oligodontia, Shallow orbits, Megalocornea, EEG abnormality, Microtia, Scoliosis, Narrow mouth, Lo... |
ORPHA:1272 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, Sc... |
OMIM:609541 |
| Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short neck, Hype... |
ORPHA:79444 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cataract, Posteriorly rotated ears, Micrognathia, Narrow mouth, Malar flattening, Pterygium, Anis... |
OMIM:224410 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short neck, Band... |
ORPHA:79443 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Incre... |
OMIM:241200 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract, Ptosis |
ORPHA:1069 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr... |
OMIM:610706 |
| De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Epicanthus, Cataract, Corneal opacity, Kyphoscoliosis, Gen... |
ORPHA:2962 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific... |
ORPHA:93314 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Paroxysmal dystonia, Epicanthus, Kyphosis, Upslanted palpebral fissure |
OMIM:619909 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... |
OMIM:607326 |
| Neu-Laxova Syndrome 2 |
|
Ablepharon, Cataract, Micrognathia, Short neck, Cleft palate, High palate, Scoliosis, Low-set ears |
OMIM:616038 |
| Premature Aging Syndrome, Okamoto Type |
|
Abnormal pinna morphology, Cataract, Osteoporosis, Low-set ears |
OMIM:601811 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
| Multiple Sulfatase Deficiency |
|
Thick eyebrow, Cataract, Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Opti... |
ORPHA:585 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Micrognathia, Cleft upper lip, Kyphosis, Cleft palate, Corneal ulceration, Conjunctivitis... |
OMIM:153400 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Micrognathia, Downturned corners of mouth, Cleft lip, Gingival overgrowth, Agenesis o... |
OMIM:616894 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Joint hyperflexibility,... |
ORPHA:65286 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Microcornea, Downturned corner... |
OMIM:619539 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Conductiv... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Conductiv... |
ORPHA:353277 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyelash morphology, Abnormal eyebrow morphology, Sensorineural hearing impairment, Cataract |
ORPHA:3437 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Develop... |
OMIM:175780 |
| Foodborne Botulism |
|
Mydriasis, Ptosis |
ORPHA:228371 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:231550 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Osteoporosis, Xanthelasma, Abnormal circulating cholesterol concentr... |
OMIM:213700 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Craniosynostosis, Ectopia lentis, Kyphosis, High, narrow... |
OMIM:616914 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Sensorineural hearing impairment, ... |
OMIM:609944 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Cleft palate |
OMIM:257910 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Posteriorly rotated ears, Craniosynostosis, Ky... |
OMIM:618050 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Cadds |
|
Cataract, Micrognathia, Sensorineural hearing impairment, Increased circulating very long-chain f... |
ORPHA:369942 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Protruding ear, Microcor... |
ORPHA:1806 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Abnormal pupil morph... |
ORPHA:261552 |
| Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:158350 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Decreased thalamic volume, Hepatospl... |
ORPHA:168577 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormal pupil morphology, Osteoarthritis, Abnormality of the gingiva, Gingi... |
ORPHA:286 |
| X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Mandibular prognathia, Dental crowding, Synophrys, High palate, Short philtrum... |
ORPHA:3063 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, High, narrow palate, Scoliosis |
OMIM:618124 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal sti... |
OMIM:118650 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Dental crowding, Carious teeth, Kyphosis, Upslant... |
OMIM:617602 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Cataract, Recurrent fractures, Sensorineural hearing impairment, Rickets, Opti... |
OMIM:268315 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunct... |
OMIM:278730 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila... |
ORPHA:89938 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Fusion of the left and right thalami |
OMIM:619306 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, Micrognathia, Kyphosis, Fl... |
OMIM:618291 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Cataract, Dental crowding, Carious teeth, Supernumerary tooth, Talon c... |
ORPHA:353281 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, High, narrow palate, Scoliosis, Joint hyperflexibility |
ORPHA:2181 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Abnormal dental morphology, Tarsal synostosis, Abnormal dental enamel morphology,... |
ORPHA:85199 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Kyphoscoli... |
OMIM:109400 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Classic Homocystinuria |
|
Cataract, Dental crowding, Recurrent fractures, Ectopia lentis, Joint stiffness, Kyphosis, Osteop... |
ORPHA:394 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy, Exaggerated sta... |
OMIM:616881 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita, Ptosis |
OMIM:617143 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Uplifted earlobe, Submucous cleft har... |
OMIM:235730 |
| Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, High palate, Short p... |
OMIM:618332 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Telecanthus, Cataract, Increased bone mineral density, Micrognathia, Protruding tong... |
ORPHA:50945 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Hearing impairment, Ocular albinism, Reduced bone mineral density, High palate, Iris hy... |
ORPHA:2720 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Oculogyric crisis, Bilateral ptosis, Kyphosis, Open mouth, Tremor b... |
ORPHA:97349 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Dystonia, EEG abnormality |
ORPHA:500180 |
| Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Advanced eruption ... |
ORPHA:818 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Epicanthus, Posteriorly rotated ears, Kyphoscoliosis, Protruding tongue, A... |
OMIM:301040 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy... |
OMIM:610915 |
| Werner Syndrome |
|
Low back pain, Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bon... |
OMIM:277700 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Elbow ankylosis, Bifid uvula, Increased bone mineral ... |
ORPHA:2658 |
| Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Posteriorly rotated ears, Short neck, Sparse eyebrow, Kyphosi... |
OMIM:619745 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Hooded eyelid, Uplifted earlobe, Micrognathia, Syno... |
OMIM:619841 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Mixed hearing impairment, Cataract, Block vertebrae, Tarsal synostosis, Hyperlo... |
OMIM:272460 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Telecanthus, Cataract, Hypocalcemia |
ORPHA:1563 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Catara... |
OMIM:135500 |
| Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Tremor, Downturned corners of mouth, EEG abnormality, Choreoathetosis, A... |
ORPHA:2131 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Short neck, Micrognathia, Ky... |
ORPHA:958 |
| Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca |
OMIM:619016 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Fucosidosis |
|
Corneal opacity, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, He... |
ORPHA:349 |
| Pelizaeus-Merzbacher Disease |
|
Joint stiffness, Kyphosis, Optic atrophy, Choreoathetosis, Scoliosis, Dystonia, Hearing impairment |
ORPHA:702 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Cataract, Hearing impairment, Micrognathia, Gingi... |
ORPHA:46059 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess |
ORPHA:289176 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Cataract, Posteriorly rotated ears, Micrognathia, Kyphosis, Ups... |
OMIM:300960 |
| Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... |
OMIM:177170 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generalized joint laxity... |
ORPHA:93360 |
| 15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, L... |
ORPHA:261190 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Kyphosis, High palat... |
OMIM:619244 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Cataract, Recurrent fractures, Hearing impairment, Abnormality of th... |
ORPHA:1775 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Increased bone mineral de... |
OMIM:119600 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Scolios... |
ORPHA:2075 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Aganglionic megacolon, Radial club hand, Sensorineural he... |
ORPHA:959 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Facial palsy, Hearing impairment, Kyphosis, Sensorineural hearing impairment, Ton... |
OMIM:211530 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Weismann-Netter Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Epicanthus, Cataract, Macrotia, Flexion contracture, Long ear, Scoliosi... |
OMIM:617561 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Synophrys, Glossopto... |
OMIM:602535 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Arachnoid Cyst |
|
Back pain, Ptosis, Facial palsy, Cranial nerve compression, Sciatica, Mydriasis |
ORPHA:2356 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Hearing impairment, Short neck, Kyphosis, Flexion contrac... |
OMIM:309900 |
| W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, B... |
ORPHA:2804 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel... |
OMIM:257980 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Dental c... |
OMIM:300990 |
| Coloboma, Ocular, Autosomal Recessive |
|
Optic disc coloboma, Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis, Knee flexion contracture, Long palpebral fissure, Ptosis |
OMIM:603387 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Oral mucosal blisters, Flexion contracture, Corneal scarring, Conjunctivitis, Narrow mo... |
OMIM:226600 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Axe... |
OMIM:266270 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Hearing impairment, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, C... |
ORPHA:1724 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p... |
ORPHA:98977 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat... |
OMIM:143095 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Mgat2-Cdg |
|
Osteopenia, Low-set, posteriorly rotated ears, Dental crowding, Posteriorly rotated ears, Kyphosi... |
ORPHA:79329 |
| Superficial Siderosis |
|
Back pain, Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of the brachial ne... |
ORPHA:247245 |
| Pituitary Apoplexy |
|
Hyponatremia, Mydriasis, Ptosis |
ORPHA:95613 |
| Prader-Willi Syndrome |
|
Osteopenia, Thin upper lip vermilion, Almond-shaped palpebral fissure, Kyphosis, Carious teeth, O... |
OMIM:176270 |
| Revesz Syndrome |
|
Oral leukoplakia, Megalocornea, Leukocoria |
OMIM:268130 |
| X-Linked Hypophosphatemia |
|
Tooth abscess, Hypophosphatemia |
ORPHA:89936 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
| Alexander Disease |
|
Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, EEG abnormality, High pala... |
ORPHA:58 |
| Cockayne Syndrome |
|
Congenital contracture, Lentiglobus, Intention tremor, Abnormal dental morphology, Agenesis of pe... |
ORPHA:191 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Carious teeth, Kyphosis, Macrotia, Flexion contracture, Microcornea,... |
ORPHA:90324 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2311 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Aganglionic megacolon, Hyperuricemia, Narrow mouth |
ORPHA:261222 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Protruding... |
OMIM:619475 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Micrognathia |
OMIM:618272 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Cataract, Cleft upper lip, Corneal erosion, Cleft palate, Conjunctivitis, Distichiasis, E... |
ORPHA:33001 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Almond-shaped palpebral fissure, Kyphosis, Tremor, Flexion ... |
OMIM:212065 |
| Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Tremor, Mydriasis |
ORPHA:43116 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Hearing impairment |
ORPHA:93274 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone... |
OMIM:259050 |
| Achondroplasia |
|
Lumbar hyperlordosis, Hearing impairment, Hip joint hypermobility, Kyphosis, Spinal canal stenosi... |
ORPHA:15 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Cataract, Micrognathia, Optic atrophy, Hypokalemia, High pa... |
OMIM:617913 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:146500 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Mandibular prognathia, Posteriorly rotated ears, Hyperlordosis, Sparse eyebrow, Kyp... |
OMIM:617011 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Agenesis of corpus callosum, Partial agenesis of the corpus... |
OMIM:610828 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Wide mouth, Low-set ears, Long philtrum |
OMIM:608776 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Scoliosis, Narr... |
OMIM:309500 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Protruding ear, Interictal epileptiform activity, Joint laxity, Abnormal dental morphology, Hyper... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Protruding ear, Interictal epileptiform activity, Joint laxity, Abnormal dental morphology, Hyper... |
ORPHA:363958 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finge... |
ORPHA:306542 |
| Rett Syndrome |
|
Abnormality of the dentition, Kyphosis, EEG abnormality, Scoliosis, Dystonia |
OMIM:312750 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Hyperphosphatemia |
OMIM:101800 |
| Spondyloocular Syndrome |
|
Osteopenia, Cataract, Posteriorly rotated ears, Abnormality of the dentition, Posterior subcapsul... |
OMIM:605822 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphy... |
OMIM:223800 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:181405 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Kyphosis, Cleft lip, Cleft palate, Protruding ear, Upslanted palpebral fissure, Cam... |
OMIM:619123 |
| Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Abnormal fo... |
ORPHA:904 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Short neck, Micrognathia, Tremor, Synophrys, Protruding ear, Widely spaced... |
OMIM:612474 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ... |
OMIM:150400 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Kyphosis, EEG abnormality, Long eyelashes, ... |
OMIM:619005 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... |
ORPHA:508533 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Gingival bleedi... |
ORPHA:77259 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Arm dystonia, Scoliosis, Ptosis |
ORPHA:88644 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Micrognathia, Kyphosis, Clef... |
ORPHA:140 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Micrognathia, High, narrow palate, Flexion contracture, Low-set ear... |
ORPHA:284979 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia |
ORPHA:93325 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Almond-shaped palpebral fissure, Kyphosis, Flexion contract... |
ORPHA:398069 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Synoph... |
OMIM:603457 |
| Marden-Walker Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Micrognathia, Kyphosis, Submu... |
ORPHA:2461 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Kyp... |
ORPHA:457359 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Underdeveloped antitragus, Abn... |
ORPHA:2036 |
| Branchiooculofacial Syndrome |
|
Short neck, Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Iris colobom... |
OMIM:113620 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia,... |
OMIM:617527 |
| Monosomy 13Q14 |
|
Epicanthus, Cataract, Short neck, Micrognathia, Protruding ear, Low-set ears, Thickened helices, ... |
ORPHA:1587 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Abnormal vertebral morphology, Absent eyebro... |
ORPHA:2273 |
| Weaver Syndrome |
|
Mandibular prognathia, Epicanthus, Kyphosis, Macrotia, Limited elbow extension, Retrognathia, Sco... |
OMIM:277590 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Cataract, Kyphoscoliosis, Macrotia, Protruding ear, Low-set ears, Camptodactyly, Bleph... |
OMIM:617403 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Abnormal eyebrow morphology, Thin upper lip vermilion, Lumbar hyperlordosis, Sparse e... |
ORPHA:2232 |
| Marfan Syndrome |
|
Cataract, Dental crowding, Kyphoscoliosis, Ectopia lentis, Micrognathia, Microspherophakia, Flexi... |
OMIM:154700 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Telecanthus, Highly arched eyebro... |
OMIM:303600 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... |
OMIM:617140 |
| Pelger-Huet Anomaly |
|
Kyphosis, Abnormality of the dentition, Median cleft palate, Gingival overgrowth |
OMIM:169400 |
| Cowden Syndrome |
|
Cataract, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High palate, Scoliosis, Conjunctiva... |
ORPHA:201 |
| Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Thoracic scoliosis, Cataract, Allergic conjunctivitis, Sensorineural hearing... |
OMIM:176690 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Aganglionic megacolon, Hyperlordosis, Kyphosis, High, narrow palate, Thick lower li... |
OMIM:162300 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Chorioretinal co... |
OMIM:309800 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Scolios... |
OMIM:230500 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:219080 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
| Alstrƶm Syndrome |
|
Optic disc pallor, Thoracic scoliosis, Hypertriglyceridemia, Cataract, Abnormality of dental colo... |
ORPHA:64 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip oste... |
OMIM:106300 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Facial palsy, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial ost... |
ORPHA:1328 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Retinoblastoma |
|
Leukocoria, Cleft palate, Uveitis, Hypopyon, Heterochromia iridis |
ORPHA:790 |
| Occipital Horn Syndrome |
|
Joint laxity, Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreas... |
OMIM:304150 |
| Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Protruding ear, EEG abnormality, Athetosis, Scoliosis, Dystonia |
OMIM:613454 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Epicanthus, Cataract, Micrognathia, Cleft palate, Downturned corners of mo... |
ORPHA:85276 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Dental crowding, Kyphoscoliosis, Tremor, Kyphosis, High, narrow palate, Narrow mout... |
OMIM:300967 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... |
OMIM:271700 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Recurrent fractures, Abnormal eyelid morphology, Joint stiffness, Kyph... |
ORPHA:636 |
| Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
| Mucolipidosis Type Ii |
|
Hip contracture, Epicanthus, Craniosynostosis, Limited wrist movement, Kyphosis, Sensorineural he... |
ORPHA:576 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
| Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Hearing impairment |
ORPHA:1860 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Abnormality iris morphology, Scoliosis |
ORPHA:91387 |
| Aspartylglucosaminuria |
|
Joint laxity, Cataract, Kyphosis, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wide mo... |
OMIM:208400 |
| Proteus Syndrome |
|
Central heterochromia, Cataract, Narrow internal auditory canal, Abnormal dental enamel morpholog... |
ORPHA:744 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum |
ORPHA:314621 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Head titubation, Kyphosis, Optic atrophy, Knee flexion contracture, Dystonia, Absen... |
OMIM:619708 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Uveitis... |
OMIM:186580 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Microdontia, Spina bifida occulta, Joint laxity, Asti... |
OMIM:135900 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Cataract, Cleft soft palate, Kyphosis, Supernumerary tooth, Protruding ear, Upslan... |
ORPHA:268261 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Epicanthus, Smooth philtrum, Delayed eruption of teeth, Carious te... |
OMIM:278250 |
| 1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Epicanthus, Cataract, Camptodacty... |
ORPHA:1606 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Joint hypermobility |
OMIM:617821 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Tremor, Hypokalemia, Increased circulating creatin... |
ORPHA:466677 |
| Cocaine Intoxication |
|
Tremor, Elevated circulating creatine kinase concentration, Mydriasis |
ORPHA:90068 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Thin vermili... |
OMIM:619869 |
| Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness |
ORPHA:392 |
| Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Kyphosis, High, narrow palate, Osteoporosis, Rickets, Osteolysis, Joint... |
ORPHA:198 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
| Sotos Syndrome |
|
Tremor, No permanent dentition, Flexion contracture, Conductive hearing impairment, Abnormal vert... |
ORPHA:821 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Kyphosis, Dental malocclusion, Arthritis, Platyspondyly, Juvenile rheu... |
ORPHA:1855 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Corneal opacity, Ankle flexion contracture, Kyphosis, Protruding ear, Astigmat... |
ORPHA:464311 |
| Neurooculorenal Syndrome |
|
Iris atrophy, Mixed hearing impairment, Highly arched eyebrow, Micrognathia, Conjugated hyperbili... |
OMIM:620305 |
| Retinoblastoma |
|
Leukocoria, Cleft palate |
OMIM:180200 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy, Sensorineural hearing impairment |
OMIM:115250 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... |
ORPHA:91500 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Corneal opacity, Kyphosis, Protruding ear, Astigm... |
ORPHA:464306 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Short hard palate, Scoliosis, Ptosis |
ORPHA:1969 |
| Chand Syndrome |
|
Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Ag... |
ORPHA:1401 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Hearing impairment |
OMIM:616482 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Scoliosis, Hearing impairment |
ORPHA:500055 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, High palate, High, narrow palate, Scoliosis |
OMIM:177850 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Epicanthus, Hearing impairment, Short neck, Abnormality of the dentition, Kyphosis, H... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Epicanthus, Hearing impairment, Short neck, Abnormality of the dentition, Kyphosis, H... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Epicanthus, Hearing impairment, Short neck, Abnormality of the dentition, Kyphosis, H... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Epicanthus, Hearing impairment, Short neck, Abnormality of the dentition, Kyphosis, H... |
ORPHA:881 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Sensorineural hearing impairment, Mydriasis |
OMIM:619351 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Widely spaced teeth |
OMIM:300942 |
| Yunis-Varon Syndrome |
|
Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia, Protruding ear, Short philt... |
OMIM:216340 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, 4-5 metacarpal synostosi... |
OMIM:268305 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the sphenoid sinus, Abnormality of... |
ORPHA:97685 |
| Plague |
|
Chapped lip, Hearing impairment, Arthritis, Conjunctival hyperemia, Glossitis, Mydriasis |
ORPHA:707 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
| Shprintzen Omphalocele Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis |
OMIM:182210 |
| Cerebrocostomandibular Syndrome |
|
Micrognathia, Kyphosis, Conductive hearing impairment, Cleft palate, Glossoptosis, Atresia of the... |
ORPHA:1393 |
| Acromegaly |
|
Mandibular prognathia, Broad jaw, Palpebral edema, Abnormality of the dentition, Kyphosis, Synoph... |
ORPHA:963 |
| Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Palpebral edema, Abnormality of the dentition, Kyphosis, Synoph... |
ORPHA:314769 |
| Cono-Spondylar Dysplasia |
|
Low-set ears, Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Athetosis, Tremor, Dystonia |
OMIM:213600 |
| Triosephosphate Isomerase Deficiency |
|
Tremor, Kyphosis, Optic disc pallor, Dystonia |
OMIM:615512 |
| Poland Syndrome |
|
Short neck, Retinal hamartoma, Kyphosis, Hemivertebrae, Finger symphalangism, Reduced bone minera... |
ORPHA:2911 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Granuloma, Increased red blood cell count |
ORPHA:68 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Astigmatism, Scoliosis |
OMIM:619482 |
| Bloom Syndrome |
|
Malar flattening, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Protruding ear |
OMIM:210900 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Generalized dystonia, Optic atrophy |
ORPHA:171629 |
| Viss Syndrome |
|
Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid uvul... |
OMIM:619472 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process... |
OMIM:300106 |
